Incidental Mutation 'R1344:Cntn4'
| ID |
200723 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntn4
|
| Ensembl Gene |
ENSMUSG00000064293 |
| Gene Name |
contactin 4 |
| Synonyms |
BIG-2A, Axcam |
| MMRRC Submission |
039409-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.313)
|
| Stock # |
R1344 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
105654621-106676271 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 106321831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079416]
[ENSMUST00000079416]
[ENSMUST00000079416]
[ENSMUST00000079416]
[ENSMUST00000089208]
[ENSMUST00000089208]
[ENSMUST00000089208]
[ENSMUST00000089208]
[ENSMUST00000113258]
[ENSMUST00000113258]
[ENSMUST00000113260]
[ENSMUST00000113260]
[ENSMUST00000113261]
[ENSMUST00000113261]
[ENSMUST00000113264]
[ENSMUST00000113264]
[ENSMUST00000113264]
[ENSMUST00000113264]
|
| AlphaFold |
Q69Z26 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000079416
|
| SMART Domains |
Protein: ENSMUSP00000078385
Gene: ENSMUSG00000064293
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
41 |
107 |
2.32e-8 |
SMART |
|
IG
|
129 |
215 |
3.4e-6 |
SMART |
|
IGc2
|
238 |
302 |
8.76e-18 |
SMART |
|
IGc2
|
328 |
391 |
2.91e-14 |
SMART |
|
IGc2
|
420 |
484 |
1.58e-10 |
SMART |
|
IG
|
504 |
594 |
9.55e-10 |
SMART |
|
FN3
|
597 |
683 |
1.54e-11 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000079416
|
| SMART Domains |
Protein: ENSMUSP00000078385
Gene: ENSMUSG00000064293
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
41 |
107 |
2.32e-8 |
SMART |
|
IG
|
129 |
215 |
3.4e-6 |
SMART |
|
IGc2
|
238 |
302 |
8.76e-18 |
SMART |
|
IGc2
|
328 |
391 |
2.91e-14 |
SMART |
|
IGc2
|
420 |
484 |
1.58e-10 |
SMART |
|
IG
|
504 |
594 |
9.55e-10 |
SMART |
|
FN3
|
597 |
683 |
1.54e-11 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000079416
|
| SMART Domains |
Protein: ENSMUSP00000078385
Gene: ENSMUSG00000064293
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
41 |
107 |
2.32e-8 |
SMART |
|
IG
|
129 |
215 |
3.4e-6 |
SMART |
|
IGc2
|
238 |
302 |
8.76e-18 |
SMART |
|
IGc2
|
328 |
391 |
2.91e-14 |
SMART |
|
IGc2
|
420 |
484 |
1.58e-10 |
SMART |
|
IG
|
504 |
594 |
9.55e-10 |
SMART |
|
FN3
|
597 |
683 |
1.54e-11 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000079416
|
| SMART Domains |
Protein: ENSMUSP00000078385
Gene: ENSMUSG00000064293
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
41 |
107 |
2.32e-8 |
SMART |
|
IG
|
129 |
215 |
3.4e-6 |
SMART |
|
IGc2
|
238 |
302 |
8.76e-18 |
SMART |
|
IGc2
|
328 |
391 |
2.91e-14 |
SMART |
|
IGc2
|
420 |
484 |
1.58e-10 |
SMART |
|
IG
|
504 |
594 |
9.55e-10 |
SMART |
|
FN3
|
597 |
683 |
1.54e-11 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000089208
|
| SMART Domains |
Protein: ENSMUSP00000086616
Gene: ENSMUSG00000064293
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
41 |
107 |
2.32e-8 |
SMART |
|
IG
|
129 |
215 |
3.4e-6 |
SMART |
|
IGc2
|
238 |
302 |
8.76e-18 |
SMART |
|
IGc2
|
328 |
391 |
2.91e-14 |
SMART |
|
IGc2
|
420 |
484 |
1.58e-10 |
SMART |
|
IG
|
504 |
594 |
9.55e-10 |
SMART |
|
FN3
|
597 |
683 |
1.54e-11 |
SMART |
|
FN3
|
700 |
786 |
8.39e0 |
SMART |
|
FN3
|
801 |
886 |
1.33e-6 |
SMART |
|
FN3
|
901 |
981 |
9.85e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000089208
|
| SMART Domains |
Protein: ENSMUSP00000086616
Gene: ENSMUSG00000064293
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
41 |
107 |
2.32e-8 |
SMART |
|
IG
|
129 |
215 |
3.4e-6 |
SMART |
|
IGc2
|
238 |
302 |
8.76e-18 |
SMART |
|
IGc2
|
328 |
391 |
2.91e-14 |
SMART |
|
IGc2
|
420 |
484 |
1.58e-10 |
SMART |
|
IG
|
504 |
594 |
9.55e-10 |
SMART |
|
FN3
|
597 |
683 |
1.54e-11 |
SMART |
|
FN3
|
700 |
786 |
8.39e0 |
SMART |
|
FN3
|
801 |
886 |
1.33e-6 |
SMART |
|
FN3
|
901 |
981 |
9.85e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000089208
|
| SMART Domains |
Protein: ENSMUSP00000086616
Gene: ENSMUSG00000064293
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
41 |
107 |
2.32e-8 |
SMART |
|
IG
|
129 |
215 |
3.4e-6 |
SMART |
|
IGc2
|
238 |
302 |
8.76e-18 |
SMART |
|
IGc2
|
328 |
391 |
2.91e-14 |
SMART |
|
IGc2
|
420 |
484 |
1.58e-10 |
SMART |
|
IG
|
504 |
594 |
9.55e-10 |
SMART |
|
FN3
|
597 |
683 |
1.54e-11 |
SMART |
|
FN3
|
700 |
786 |
8.39e0 |
SMART |
|
FN3
|
801 |
886 |
1.33e-6 |
SMART |
|
FN3
|
901 |
981 |
9.85e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000089208
|
| SMART Domains |
Protein: ENSMUSP00000086616
Gene: ENSMUSG00000064293
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
41 |
107 |
2.32e-8 |
SMART |
|
IG
|
129 |
215 |
3.4e-6 |
SMART |
|
IGc2
|
238 |
302 |
8.76e-18 |
SMART |
|
IGc2
|
328 |
391 |
2.91e-14 |
SMART |
|
IGc2
|
420 |
484 |
1.58e-10 |
SMART |
|
IG
|
504 |
594 |
9.55e-10 |
SMART |
|
FN3
|
597 |
683 |
1.54e-11 |
SMART |
|
FN3
|
700 |
786 |
8.39e0 |
SMART |
|
FN3
|
801 |
886 |
1.33e-6 |
SMART |
|
FN3
|
901 |
981 |
9.85e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113258
|
| SMART Domains |
Protein: ENSMUSP00000108883
Gene: ENSMUSG00000064293
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
41 |
107 |
2.32e-8 |
SMART |
|
IG
|
129 |
215 |
3.4e-6 |
SMART |
|
IGc2
|
238 |
302 |
8.76e-18 |
SMART |
|
IGc2
|
328 |
391 |
2.91e-14 |
SMART |
|
IGc2
|
420 |
484 |
1.58e-10 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113258
|
| SMART Domains |
Protein: ENSMUSP00000108883
Gene: ENSMUSG00000064293
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
41 |
107 |
2.32e-8 |
SMART |
|
IG
|
129 |
215 |
3.4e-6 |
SMART |
|
IGc2
|
238 |
302 |
8.76e-18 |
SMART |
|
IGc2
|
328 |
391 |
2.91e-14 |
SMART |
|
IGc2
|
420 |
484 |
1.58e-10 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113260
|
| SMART Domains |
Protein: ENSMUSP00000108885
Gene: ENSMUSG00000064293
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
41 |
107 |
2.32e-8 |
SMART |
|
IG
|
129 |
215 |
3.4e-6 |
SMART |
|
IGc2
|
238 |
302 |
8.76e-18 |
SMART |
|
IGc2
|
328 |
391 |
2.91e-14 |
SMART |
|
IGc2
|
420 |
484 |
1.58e-10 |
SMART |
|
IG
|
504 |
594 |
9.55e-10 |
SMART |
|
FN3
|
597 |
683 |
1.54e-11 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113260
|
| SMART Domains |
Protein: ENSMUSP00000108885
Gene: ENSMUSG00000064293
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
41 |
107 |
2.32e-8 |
SMART |
|
IG
|
129 |
215 |
3.4e-6 |
SMART |
|
IGc2
|
238 |
302 |
8.76e-18 |
SMART |
|
IGc2
|
328 |
391 |
2.91e-14 |
SMART |
|
IGc2
|
420 |
484 |
1.58e-10 |
SMART |
|
IG
|
504 |
594 |
9.55e-10 |
SMART |
|
FN3
|
597 |
683 |
1.54e-11 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113261
|
| SMART Domains |
Protein: ENSMUSP00000108886
Gene: ENSMUSG00000064293
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
41 |
107 |
2.32e-8 |
SMART |
|
IG
|
129 |
215 |
3.4e-6 |
SMART |
|
IGc2
|
238 |
302 |
8.76e-18 |
SMART |
|
IGc2
|
328 |
391 |
2.91e-14 |
SMART |
|
IGc2
|
420 |
484 |
1.58e-10 |
SMART |
|
IG
|
504 |
594 |
9.55e-10 |
SMART |
|
FN3
|
597 |
683 |
1.54e-11 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113261
|
| SMART Domains |
Protein: ENSMUSP00000108886
Gene: ENSMUSG00000064293
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
41 |
107 |
2.32e-8 |
SMART |
|
IG
|
129 |
215 |
3.4e-6 |
SMART |
|
IGc2
|
238 |
302 |
8.76e-18 |
SMART |
|
IGc2
|
328 |
391 |
2.91e-14 |
SMART |
|
IGc2
|
420 |
484 |
1.58e-10 |
SMART |
|
IG
|
504 |
594 |
9.55e-10 |
SMART |
|
FN3
|
597 |
683 |
1.54e-11 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113264
|
| SMART Domains |
Protein: ENSMUSP00000108889
Gene: ENSMUSG00000064293
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
41 |
107 |
2.32e-8 |
SMART |
|
IG
|
129 |
215 |
3.4e-6 |
SMART |
|
IGc2
|
238 |
302 |
8.76e-18 |
SMART |
|
IGc2
|
328 |
391 |
2.91e-14 |
SMART |
|
IGc2
|
420 |
484 |
1.58e-10 |
SMART |
|
IG
|
504 |
594 |
9.55e-10 |
SMART |
|
FN3
|
597 |
683 |
1.54e-11 |
SMART |
|
FN3
|
700 |
786 |
8.39e0 |
SMART |
|
FN3
|
801 |
886 |
1.33e-6 |
SMART |
|
FN3
|
901 |
981 |
9.85e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113264
|
| SMART Domains |
Protein: ENSMUSP00000108889
Gene: ENSMUSG00000064293
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
41 |
107 |
2.32e-8 |
SMART |
|
IG
|
129 |
215 |
3.4e-6 |
SMART |
|
IGc2
|
238 |
302 |
8.76e-18 |
SMART |
|
IGc2
|
328 |
391 |
2.91e-14 |
SMART |
|
IGc2
|
420 |
484 |
1.58e-10 |
SMART |
|
IG
|
504 |
594 |
9.55e-10 |
SMART |
|
FN3
|
597 |
683 |
1.54e-11 |
SMART |
|
FN3
|
700 |
786 |
8.39e0 |
SMART |
|
FN3
|
801 |
886 |
1.33e-6 |
SMART |
|
FN3
|
901 |
981 |
9.85e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113264
|
| SMART Domains |
Protein: ENSMUSP00000108889
Gene: ENSMUSG00000064293
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
41 |
107 |
2.32e-8 |
SMART |
|
IG
|
129 |
215 |
3.4e-6 |
SMART |
|
IGc2
|
238 |
302 |
8.76e-18 |
SMART |
|
IGc2
|
328 |
391 |
2.91e-14 |
SMART |
|
IGc2
|
420 |
484 |
1.58e-10 |
SMART |
|
IG
|
504 |
594 |
9.55e-10 |
SMART |
|
FN3
|
597 |
683 |
1.54e-11 |
SMART |
|
FN3
|
700 |
786 |
8.39e0 |
SMART |
|
FN3
|
801 |
886 |
1.33e-6 |
SMART |
|
FN3
|
901 |
981 |
9.85e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113264
|
| SMART Domains |
Protein: ENSMUSP00000108889
Gene: ENSMUSG00000064293
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
41 |
107 |
2.32e-8 |
SMART |
|
IG
|
129 |
215 |
3.4e-6 |
SMART |
|
IGc2
|
238 |
302 |
8.76e-18 |
SMART |
|
IGc2
|
328 |
391 |
2.91e-14 |
SMART |
|
IGc2
|
420 |
484 |
1.58e-10 |
SMART |
|
IG
|
504 |
594 |
9.55e-10 |
SMART |
|
FN3
|
597 |
683 |
1.54e-11 |
SMART |
|
FN3
|
700 |
786 |
8.39e0 |
SMART |
|
FN3
|
801 |
886 |
1.33e-6 |
SMART |
|
FN3
|
901 |
981 |
9.85e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125904
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130040
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuronal membrane protein that may play a role in the formation of axon connections in the developing nervous system. Deletion or mutation of this gene may play a role in 3p deletion syndrome and autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit aberrant projection of olfactory axons to multiple glomeruli in the olfactory bulb. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730596B20Rik |
T |
G |
6: 52,156,131 (GRCm39) |
|
probably benign |
Het |
| Aco1 |
T |
C |
4: 40,179,008 (GRCm39) |
Y336H |
probably damaging |
Het |
| Adamts12 |
T |
A |
15: 11,286,890 (GRCm39) |
W832R |
probably damaging |
Het |
| Asxl2 |
A |
G |
12: 3,543,790 (GRCm39) |
K320E |
probably damaging |
Het |
| Atrnl1 |
G |
A |
19: 57,924,137 (GRCm39) |
|
probably null |
Het |
| B4galnt2 |
A |
C |
11: 95,760,181 (GRCm39) |
I282S |
probably benign |
Het |
| Bcl2l13 |
T |
C |
6: 120,853,288 (GRCm39) |
I191T |
probably benign |
Het |
| Bltp3a |
A |
G |
17: 28,113,551 (GRCm39) |
K1241R |
probably benign |
Het |
| Cd101 |
A |
T |
3: 100,926,091 (GRCm39) |
Y209* |
probably null |
Het |
| Cd109 |
A |
T |
9: 78,579,832 (GRCm39) |
|
probably null |
Het |
| Cdc34 |
G |
A |
10: 79,521,134 (GRCm39) |
A128T |
probably damaging |
Het |
| Cdk12 |
T |
A |
11: 98,132,611 (GRCm39) |
S1013R |
unknown |
Het |
| Cntd1 |
T |
A |
11: 101,176,566 (GRCm39) |
L221Q |
possibly damaging |
Het |
| Col12a1 |
T |
A |
9: 79,606,837 (GRCm39) |
K529* |
probably null |
Het |
| Col17a1 |
T |
A |
19: 47,659,944 (GRCm39) |
D336V |
probably damaging |
Het |
| Creb3l4 |
A |
G |
3: 90,146,045 (GRCm39) |
I193T |
possibly damaging |
Het |
| Cyp2d10 |
A |
T |
15: 82,290,106 (GRCm39) |
|
probably null |
Het |
| Dcun1d3 |
A |
G |
7: 119,457,158 (GRCm39) |
F185L |
probably damaging |
Het |
| Dlec1 |
G |
A |
9: 118,959,085 (GRCm39) |
E910K |
probably benign |
Het |
| Dnajc19 |
T |
A |
3: 34,112,161 (GRCm39) |
N128I |
probably damaging |
Het |
| Dusp1 |
A |
G |
17: 26,727,293 (GRCm39) |
V2A |
probably benign |
Het |
| Eea1 |
G |
A |
10: 95,830,861 (GRCm39) |
|
probably null |
Het |
| Elf1 |
T |
C |
14: 79,798,215 (GRCm39) |
V34A |
probably damaging |
Het |
| Extl1 |
T |
C |
4: 134,086,552 (GRCm39) |
D501G |
probably damaging |
Het |
| Fcgr2b |
T |
C |
1: 170,788,650 (GRCm39) |
Y319C |
probably damaging |
Het |
| Fhip2a |
G |
A |
19: 57,359,594 (GRCm39) |
A45T |
possibly damaging |
Het |
| Fxr2 |
A |
G |
11: 69,539,710 (GRCm39) |
H247R |
possibly damaging |
Het |
| Gask1a |
A |
T |
9: 121,807,452 (GRCm39) |
H532L |
probably damaging |
Het |
| Gfra1 |
A |
C |
19: 58,226,849 (GRCm39) |
S461A |
possibly damaging |
Het |
| Gli2 |
T |
G |
1: 118,769,666 (GRCm39) |
I629L |
probably damaging |
Het |
| Gpx3 |
G |
A |
11: 54,800,422 (GRCm39) |
V207I |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,879,389 (GRCm39) |
D743G |
possibly damaging |
Het |
| Hormad2 |
A |
G |
11: 4,359,005 (GRCm39) |
|
probably null |
Het |
| Ifitm1 |
C |
T |
7: 140,548,263 (GRCm39) |
T32M |
probably benign |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Lrit2 |
A |
G |
14: 36,790,513 (GRCm39) |
N64S |
probably benign |
Het |
| Lsm14a |
A |
T |
7: 34,052,982 (GRCm39) |
D322E |
probably damaging |
Het |
| Macf1 |
T |
G |
4: 123,327,246 (GRCm39) |
R4752S |
probably damaging |
Het |
| Mark3 |
T |
C |
12: 111,594,271 (GRCm39) |
I307T |
possibly damaging |
Het |
| Mpdz |
T |
A |
4: 81,226,556 (GRCm39) |
T1360S |
probably benign |
Het |
| Mtif2 |
G |
A |
11: 29,495,002 (GRCm39) |
V701I |
probably benign |
Het |
| Myh3 |
A |
G |
11: 66,983,158 (GRCm39) |
E895G |
probably benign |
Het |
| Ncan |
A |
C |
8: 70,560,819 (GRCm39) |
I716R |
probably benign |
Het |
| Ncor2 |
C |
T |
5: 125,102,510 (GRCm39) |
R1867K |
probably damaging |
Het |
| Oas1d |
C |
T |
5: 121,052,959 (GRCm39) |
L5F |
probably damaging |
Het |
| Or10s1 |
T |
A |
9: 39,985,768 (GRCm39) |
L59H |
probably damaging |
Het |
| Or11h4b |
T |
A |
14: 50,918,315 (GRCm39) |
M259L |
probably benign |
Het |
| Or13a17 |
T |
C |
7: 140,271,712 (GRCm39) |
V298A |
probably damaging |
Het |
| Or3a4 |
A |
T |
11: 73,945,038 (GRCm39) |
C182* |
probably null |
Het |
| Otog |
G |
T |
7: 45,924,039 (GRCm39) |
A1133S |
probably damaging |
Het |
| Oxtr |
C |
T |
6: 112,454,138 (GRCm39) |
R42Q |
probably benign |
Het |
| Pcdhb2 |
G |
A |
18: 37,428,710 (GRCm39) |
V228I |
possibly damaging |
Het |
| Pdcd11 |
A |
G |
19: 47,118,516 (GRCm39) |
D1794G |
probably damaging |
Het |
| Pde1c |
T |
C |
6: 56,338,752 (GRCm39) |
I27V |
probably benign |
Het |
| Pde4d |
C |
A |
13: 110,086,921 (GRCm39) |
S609* |
probably null |
Het |
| Piezo2 |
T |
A |
18: 63,154,325 (GRCm39) |
I2485F |
probably damaging |
Het |
| Plekhd1 |
A |
G |
12: 80,739,659 (GRCm39) |
T3A |
probably benign |
Het |
| Plscr1 |
C |
T |
9: 92,141,357 (GRCm39) |
T15I |
unknown |
Het |
| Rd3 |
T |
C |
1: 191,717,262 (GRCm39) |
*106R |
probably null |
Het |
| Rnf125 |
A |
G |
18: 21,114,288 (GRCm39) |
I97V |
possibly damaging |
Het |
| Sec24b |
T |
C |
3: 129,801,072 (GRCm39) |
N408S |
probably damaging |
Het |
| Sf3b3 |
G |
C |
8: 111,564,935 (GRCm39) |
A291G |
probably damaging |
Het |
| Simc1 |
T |
C |
13: 54,698,292 (GRCm39) |
V403A |
probably damaging |
Het |
| Slc38a9 |
T |
C |
13: 112,826,714 (GRCm39) |
C151R |
probably benign |
Het |
| Slco1a8 |
A |
G |
6: 141,931,344 (GRCm39) |
S474P |
probably damaging |
Het |
| Slitrk5 |
A |
G |
14: 111,917,821 (GRCm39) |
S482G |
probably benign |
Het |
| Smyd1 |
G |
A |
6: 71,239,151 (GRCm39) |
T13I |
probably benign |
Het |
| Speer4a3 |
T |
A |
5: 26,158,107 (GRCm39) |
T82S |
probably benign |
Het |
| Stoml2 |
T |
A |
4: 43,028,197 (GRCm39) |
I344F |
probably benign |
Het |
| Tet1 |
C |
T |
10: 62,650,300 (GRCm39) |
R1636H |
probably damaging |
Het |
| Thap12 |
A |
G |
7: 98,366,037 (GRCm39) |
D735G |
probably damaging |
Het |
| Tnip3 |
T |
C |
6: 65,574,413 (GRCm39) |
V88A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,565,755 (GRCm39) |
V28199A |
possibly damaging |
Het |
| Ube3b |
T |
C |
5: 114,556,636 (GRCm39) |
F989S |
probably damaging |
Het |
| Ubox5 |
A |
G |
2: 130,442,210 (GRCm39) |
L159P |
probably damaging |
Het |
| Uevld |
A |
T |
7: 46,587,758 (GRCm39) |
V314E |
possibly damaging |
Het |
| Urb1 |
T |
C |
16: 90,566,354 (GRCm39) |
M1478V |
probably damaging |
Het |
| Ust |
C |
A |
10: 8,173,954 (GRCm39) |
V184F |
possibly damaging |
Het |
| Wdr95 |
G |
A |
5: 149,511,563 (GRCm39) |
C421Y |
probably damaging |
Het |
|
| Other mutations in Cntn4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00092:Cntn4
|
APN |
6 |
106,483,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00725:Cntn4
|
APN |
6 |
106,639,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01062:Cntn4
|
APN |
6 |
106,595,239 (GRCm39) |
splice site |
probably benign |
|
|
IGL01432:Cntn4
|
APN |
6 |
106,655,295 (GRCm39) |
splice site |
probably benign |
|
|
IGL01585:Cntn4
|
APN |
6 |
106,595,289 (GRCm39) |
nonsense |
probably null |
|
|
IGL01710:Cntn4
|
APN |
6 |
106,527,392 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01870:Cntn4
|
APN |
6 |
106,466,676 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01933:Cntn4
|
APN |
6 |
106,671,345 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01937:Cntn4
|
APN |
6 |
106,414,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01945:Cntn4
|
APN |
6 |
106,414,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02007:Cntn4
|
APN |
6 |
106,632,490 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02506:Cntn4
|
APN |
6 |
106,595,349 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02561:Cntn4
|
APN |
6 |
106,500,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03080:Cntn4
|
APN |
6 |
106,632,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03338:Cntn4
|
APN |
6 |
106,632,550 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03097:Cntn4
|
UTSW |
6 |
106,330,673 (GRCm39) |
missense |
probably benign |
0.10 |
|
LCD18:Cntn4
|
UTSW |
6 |
106,530,901 (GRCm39) |
intron |
probably benign |
|
|
R0083:Cntn4
|
UTSW |
6 |
106,502,330 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0098:Cntn4
|
UTSW |
6 |
106,595,385 (GRCm39) |
splice site |
probably benign |
|
|
R0501:Cntn4
|
UTSW |
6 |
106,595,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0626:Cntn4
|
UTSW |
6 |
106,639,539 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0633:Cntn4
|
UTSW |
6 |
106,656,209 (GRCm39) |
splice site |
probably null |
|
|
R0730:Cntn4
|
UTSW |
6 |
106,527,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0849:Cntn4
|
UTSW |
6 |
106,644,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0883:Cntn4
|
UTSW |
6 |
106,644,501 (GRCm39) |
splice site |
probably benign |
|
|
R0926:Cntn4
|
UTSW |
6 |
106,632,542 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1199:Cntn4
|
UTSW |
6 |
106,330,558 (GRCm39) |
splice site |
probably benign |
|
|
R1293:Cntn4
|
UTSW |
6 |
106,330,685 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1296:Cntn4
|
UTSW |
6 |
106,486,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1418:Cntn4
|
UTSW |
6 |
106,321,831 (GRCm39) |
splice site |
probably null |
|
|
R1660:Cntn4
|
UTSW |
6 |
106,656,258 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1751:Cntn4
|
UTSW |
6 |
106,595,371 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1883:Cntn4
|
UTSW |
6 |
106,656,353 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1884:Cntn4
|
UTSW |
6 |
106,656,353 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1899:Cntn4
|
UTSW |
6 |
106,652,774 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1906:Cntn4
|
UTSW |
6 |
106,330,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2048:Cntn4
|
UTSW |
6 |
106,414,825 (GRCm39) |
splice site |
probably benign |
|
|
R2113:Cntn4
|
UTSW |
6 |
106,466,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3177:Cntn4
|
UTSW |
6 |
106,414,925 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3277:Cntn4
|
UTSW |
6 |
106,414,925 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3944:Cntn4
|
UTSW |
6 |
106,595,375 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4401:Cntn4
|
UTSW |
6 |
106,466,625 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4540:Cntn4
|
UTSW |
6 |
106,652,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4688:Cntn4
|
UTSW |
6 |
106,414,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4697:Cntn4
|
UTSW |
6 |
106,502,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4810:Cntn4
|
UTSW |
6 |
106,632,572 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4816:Cntn4
|
UTSW |
6 |
106,527,458 (GRCm39) |
missense |
probably benign |
|
|
R4873:Cntn4
|
UTSW |
6 |
106,414,874 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4875:Cntn4
|
UTSW |
6 |
106,414,874 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4953:Cntn4
|
UTSW |
6 |
106,502,379 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5288:Cntn4
|
UTSW |
6 |
106,158,765 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5336:Cntn4
|
UTSW |
6 |
106,639,595 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5386:Cntn4
|
UTSW |
6 |
106,158,765 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5477:Cntn4
|
UTSW |
6 |
106,650,911 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5514:Cntn4
|
UTSW |
6 |
106,649,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5668:Cntn4
|
UTSW |
6 |
106,656,397 (GRCm39) |
splice site |
silent |
|
|
R6334:Cntn4
|
UTSW |
6 |
106,321,747 (GRCm39) |
missense |
probably benign |
|
|
R6334:Cntn4
|
UTSW |
6 |
106,483,153 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6904:Cntn4
|
UTSW |
6 |
106,674,544 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6985:Cntn4
|
UTSW |
6 |
106,656,378 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7246:Cntn4
|
UTSW |
6 |
106,483,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7282:Cntn4
|
UTSW |
6 |
106,502,421 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7585:Cntn4
|
UTSW |
6 |
106,466,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7667:Cntn4
|
UTSW |
6 |
106,656,856 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7781:Cntn4
|
UTSW |
6 |
106,500,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7882:Cntn4
|
UTSW |
6 |
106,330,684 (GRCm39) |
missense |
probably benign |
|
|
R8081:Cntn4
|
UTSW |
6 |
106,651,568 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8105:Cntn4
|
UTSW |
6 |
106,330,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8221:Cntn4
|
UTSW |
6 |
106,486,471 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8910:Cntn4
|
UTSW |
6 |
106,632,497 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8911:Cntn4
|
UTSW |
6 |
106,330,743 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8916:Cntn4
|
UTSW |
6 |
106,652,915 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9249:Cntn4
|
UTSW |
6 |
106,466,722 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9376:Cntn4
|
UTSW |
6 |
106,639,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9616:Cntn4
|
UTSW |
6 |
106,674,525 (GRCm39) |
nonsense |
probably null |
|
|
R9767:Cntn4
|
UTSW |
6 |
106,655,395 (GRCm39) |
missense |
probably benign |
0.40 |
|
Z1176:Cntn4
|
UTSW |
6 |
106,500,524 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Cntn4
|
UTSW |
6 |
106,486,425 (GRCm39) |
missense |
probably benign |
0.28 |
|
Z1177:Cntn4
|
UTSW |
6 |
106,639,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cntn4
|
UTSW |
6 |
106,527,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGGAGCCCTGTCTTAACTTCCTAC -3'
(R):5'- CAGAACCTCCGTGCTTTTGTTTTGATG -3'
Sequencing Primer
(F):5'- CTGAGAAAAAATCTTGGGCATCC -3'
(R):5'- CAGAATTCCTCACATTGCCTAC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation