Incidental Mutation 'R1418:Cntn4'
ID |
159916 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntn4
|
Ensembl Gene |
ENSMUSG00000064293 |
Gene Name |
contactin 4 |
Synonyms |
BIG-2A, Axcam |
MMRRC Submission |
039474-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.313)
|
Stock # |
R1418 (G1)
|
Quality Score |
225 |
Status
|
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: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.5%
|
Validation Efficiency |
97% (92/95) |
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: 90 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730596B20Rik |
T |
G |
6: 52,156,131 (GRCm39) |
|
probably benign |
Het |
Abtb3 |
C |
A |
10: 85,481,442 (GRCm39) |
T948K |
probably damaging |
Het |
Adamts12 |
T |
A |
15: 11,286,890 (GRCm39) |
W832R |
probably damaging |
Het |
Alb |
A |
G |
5: 90,612,061 (GRCm39) |
|
probably benign |
Het |
Arnt |
A |
G |
3: 95,377,710 (GRCm39) |
|
probably benign |
Het |
Asap2 |
A |
C |
12: 21,289,586 (GRCm39) |
N501H |
probably damaging |
Het |
Asap2 |
A |
G |
12: 21,289,590 (GRCm39) |
E499G |
probably damaging |
Het |
Atp5f1b |
C |
T |
10: 127,919,167 (GRCm39) |
|
probably benign |
Het |
Atrnl1 |
G |
A |
19: 57,924,137 (GRCm39) |
|
probably null |
Het |
AW554918 |
T |
G |
18: 25,472,756 (GRCm39) |
|
probably null |
Het |
Bhmt1b |
A |
G |
18: 87,775,458 (GRCm39) |
K327R |
probably damaging |
Het |
Bltp3a |
A |
G |
17: 28,113,551 (GRCm39) |
K1241R |
probably benign |
Het |
Bod1l |
G |
A |
5: 41,976,814 (GRCm39) |
T1500I |
probably damaging |
Het |
Cd101 |
A |
T |
3: 100,926,091 (GRCm39) |
Y209* |
probably null |
Het |
Cdk12 |
T |
A |
11: 98,132,611 (GRCm39) |
S1013R |
unknown |
Het |
Cntd1 |
T |
A |
11: 101,176,566 (GRCm39) |
L221Q |
possibly damaging |
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 |
Dnah17 |
T |
A |
11: 117,964,849 (GRCm39) |
N2365Y |
probably damaging |
Het |
Dnah7a |
T |
A |
1: 53,686,395 (GRCm39) |
|
probably benign |
Het |
Dnajc16 |
G |
T |
4: 141,495,052 (GRCm39) |
S520* |
probably null |
Het |
Dsg1b |
G |
T |
18: 20,530,487 (GRCm39) |
E381* |
probably null |
Het |
Dusp1 |
A |
G |
17: 26,727,293 (GRCm39) |
V2A |
probably benign |
Het |
Elf1 |
T |
C |
14: 79,798,215 (GRCm39) |
V34A |
probably damaging |
Het |
Endou |
A |
T |
15: 97,616,854 (GRCm39) |
|
probably benign |
Het |
Epn2 |
A |
G |
11: 61,413,912 (GRCm39) |
S419P |
probably benign |
Het |
Fat4 |
T |
C |
3: 38,944,962 (GRCm39) |
I1285T |
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 |
Gfra1 |
A |
C |
19: 58,226,849 (GRCm39) |
S461A |
possibly damaging |
Het |
Gli2 |
T |
G |
1: 118,769,666 (GRCm39) |
I629L |
probably damaging |
Het |
Gm17661 |
GA |
GAA |
2: 90,917,709 (GRCm38) |
|
noncoding transcript |
Het |
Gnas |
C |
T |
2: 174,187,007 (GRCm39) |
|
probably benign |
Het |
Gpx3 |
G |
A |
11: 54,800,422 (GRCm39) |
V207I |
probably damaging |
Het |
Hormad2 |
A |
G |
11: 4,359,005 (GRCm39) |
|
probably null |
Het |
Hsd17b4 |
G |
T |
18: 50,263,254 (GRCm39) |
|
probably benign |
Het |
Kmt2b |
A |
G |
7: 30,276,385 (GRCm39) |
|
probably benign |
Het |
Lrch1 |
T |
C |
14: 75,041,709 (GRCm39) |
|
probably benign |
Het |
Mark3 |
T |
C |
12: 111,594,271 (GRCm39) |
I307T |
possibly damaging |
Het |
Mroh8 |
G |
A |
2: 157,083,774 (GRCm39) |
|
probably benign |
Het |
Mtch2 |
A |
T |
2: 90,683,359 (GRCm39) |
|
probably benign |
Het |
Mtif2 |
G |
A |
11: 29,495,002 (GRCm39) |
V701I |
probably benign |
Het |
Mug1 |
C |
T |
6: 121,815,635 (GRCm39) |
S13L |
probably benign |
Het |
Naa25 |
T |
G |
5: 121,561,797 (GRCm39) |
L450R |
probably damaging |
Het |
Nr4a2 |
A |
T |
2: 56,998,336 (GRCm39) |
N543K |
probably damaging |
Het |
Nrp2 |
C |
T |
1: 62,822,491 (GRCm39) |
R695* |
probably null |
Het |
Or10ag53 |
G |
T |
2: 87,082,766 (GRCm39) |
G162C |
probably benign |
Het |
Or10s1 |
T |
A |
9: 39,985,768 (GRCm39) |
L59H |
probably damaging |
Het |
Or2z9 |
T |
C |
8: 72,854,231 (GRCm39) |
L209P |
probably damaging |
Het |
Otog |
G |
T |
7: 45,924,039 (GRCm39) |
A1133S |
probably damaging |
Het |
Pclo |
A |
T |
5: 14,728,144 (GRCm39) |
|
probably benign |
Het |
Pdcd11 |
A |
G |
19: 47,118,516 (GRCm39) |
D1794G |
probably damaging |
Het |
Pde4d |
C |
A |
13: 110,086,921 (GRCm39) |
S609* |
probably null |
Het |
Pkn3 |
T |
A |
2: 29,973,059 (GRCm39) |
V323E |
probably damaging |
Het |
Plekhd1 |
A |
G |
12: 80,739,659 (GRCm39) |
T3A |
probably benign |
Het |
Plekhg4 |
G |
A |
8: 106,105,742 (GRCm39) |
A736T |
probably benign |
Het |
Plppr2 |
C |
T |
9: 21,859,085 (GRCm39) |
P401S |
possibly damaging |
Het |
Poln |
A |
G |
5: 34,236,319 (GRCm39) |
V604A |
probably benign |
Het |
Pramel21 |
T |
A |
4: 143,342,604 (GRCm39) |
I237K |
probably benign |
Het |
Prkd2 |
A |
G |
7: 16,603,470 (GRCm39) |
D800G |
probably benign |
Het |
Ptprb |
A |
G |
10: 116,155,375 (GRCm39) |
T710A |
probably benign |
Het |
Qrfpr |
C |
A |
3: 36,234,244 (GRCm39) |
G366W |
probably damaging |
Het |
Qser1 |
C |
A |
2: 104,607,776 (GRCm39) |
A1471S |
probably damaging |
Het |
Ralbp1 |
A |
T |
17: 66,166,143 (GRCm39) |
|
probably benign |
Het |
Rars1 |
A |
T |
11: 35,700,567 (GRCm39) |
Y505N |
probably damaging |
Het |
Sec24b |
T |
C |
3: 129,801,072 (GRCm39) |
N408S |
probably damaging |
Het |
Slc38a9 |
T |
C |
13: 112,826,714 (GRCm39) |
C151R |
probably benign |
Het |
Smcr8 |
T |
C |
11: 60,668,858 (GRCm39) |
I2T |
probably damaging |
Het |
Smtnl2 |
T |
C |
11: 72,292,247 (GRCm39) |
T301A |
probably damaging |
Het |
Smyd1 |
G |
A |
6: 71,239,151 (GRCm39) |
T13I |
probably benign |
Het |
Sp110 |
G |
A |
1: 85,522,106 (GRCm39) |
H66Y |
probably benign |
Het |
Szt2 |
A |
T |
4: 118,244,976 (GRCm39) |
S1187T |
probably benign |
Het |
Tdo2 |
A |
G |
3: 81,868,775 (GRCm39) |
|
probably null |
Het |
Tfap2a |
T |
A |
13: 40,870,680 (GRCm39) |
M405L |
possibly damaging |
Het |
Thap12 |
A |
G |
7: 98,366,037 (GRCm39) |
D735G |
probably damaging |
Het |
Tmem132b |
C |
A |
5: 125,715,313 (GRCm39) |
Q341K |
probably benign |
Het |
Tnip3 |
T |
C |
6: 65,574,413 (GRCm39) |
V88A |
probably benign |
Het |
Trim45 |
G |
T |
3: 100,834,614 (GRCm39) |
M432I |
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 |
Utrn |
C |
T |
10: 12,589,094 (GRCm39) |
V871I |
probably benign |
Het |
Vat1l |
T |
C |
8: 115,009,101 (GRCm39) |
|
probably benign |
Het |
Vmn1r205 |
T |
C |
13: 22,777,049 (GRCm39) |
K18E |
probably benign |
Het |
Zfp518a |
T |
A |
19: 40,902,803 (GRCm39) |
Y911N |
probably damaging |
Het |
Zfyve28 |
A |
G |
5: 34,374,590 (GRCm39) |
C475R |
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 |
R1344: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 |
2014-03-14 |