Incidental Mutation 'IGL01094:Cadm4'
| ID |
51509 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cadm4
|
| Ensembl Gene |
ENSMUSG00000054793 |
| Gene Name |
cell adhesion molecule 4 |
| Synonyms |
SynCAM 4, Tsll2, Igsf4c, Necl-4 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.702)
|
| Stock # |
IGL01094
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
24181448-24203958 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24202184 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 341
(L341P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066880
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068023]
[ENSMUST00000071361]
[ENSMUST00000176880]
[ENSMUST00000177205]
[ENSMUST00000177228]
|
| AlphaFold |
Q8R464 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068023
AA Change: L341P
PolyPhen 2
Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000066880
Gene: ENSMUSG00000054793
AA Change: L341P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
IG
|
29 |
121 |
3.18e-6 |
SMART |
|
IG
|
130 |
221 |
7.89e-2 |
SMART |
|
IGc2
|
236 |
298 |
1.54e-13 |
SMART |
|
4.1m
|
344 |
362 |
3.37e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071361
|
| SMART Domains |
Protein: ENSMUSP00000071318
Gene: ENSMUSG00000064264
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
70 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
134 |
N/A |
INTRINSIC |
|
low complexity region
|
138 |
147 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
149 |
171 |
2.67e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176880
|
| SMART Domains |
Protein: ENSMUSP00000135601
Gene: ENSMUSG00000064264
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
147 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177205
|
| SMART Domains |
Protein: ENSMUSP00000135750
Gene: ENSMUSG00000064264
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
160 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
162 |
184 |
2.67e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177228
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205820
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for one null allele do not display myelination abnormalities. Mice with ubiquitous conditional deletion of the gene show myelination abnormalities, decreased nerve conduction velocity, hindlimb rigidity, limb grasping, and impaired coordination. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adss2 |
A |
T |
1: 177,612,508 (GRCm39) |
H80Q |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,847,959 (GRCm39) |
N456D |
probably damaging |
Het |
| Alpk2 |
T |
G |
18: 65,439,673 (GRCm39) |
E573D |
probably damaging |
Het |
| Axin2 |
G |
A |
11: 108,814,501 (GRCm39) |
V130M |
probably damaging |
Het |
| Col20a1 |
G |
A |
2: 180,641,559 (GRCm39) |
C625Y |
probably damaging |
Het |
| Col6a3 |
T |
G |
1: 90,731,655 (GRCm39) |
I1533L |
possibly damaging |
Het |
| Dusp10 |
A |
T |
1: 183,769,697 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
A |
6: 84,171,368 (GRCm39) |
I1837N |
probably damaging |
Het |
| Fbxw19 |
A |
G |
9: 109,322,614 (GRCm39) |
S119P |
probably benign |
Het |
| Il22ra1 |
C |
A |
4: 135,478,395 (GRCm39) |
P489T |
possibly damaging |
Het |
| Il7r |
A |
T |
15: 9,508,085 (GRCm39) |
N412K |
possibly damaging |
Het |
| Kdr |
A |
T |
5: 76,122,420 (GRCm39) |
Y502N |
probably benign |
Het |
| Med12l |
T |
A |
3: 59,001,076 (GRCm39) |
L713H |
probably damaging |
Het |
| Nfxl1 |
A |
G |
5: 72,707,771 (GRCm39) |
|
probably benign |
Het |
| Or4a70 |
A |
G |
2: 89,324,182 (GRCm39) |
V158A |
probably benign |
Het |
| Piezo1 |
T |
A |
8: 123,208,877 (GRCm39) |
E2495D |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,410,325 (GRCm39) |
F2611L |
probably benign |
Het |
| Pld2 |
T |
C |
11: 70,432,132 (GRCm39) |
C84R |
probably damaging |
Het |
| Prss3l |
A |
G |
6: 41,420,357 (GRCm39) |
V123A |
possibly damaging |
Het |
| Scfd2 |
G |
T |
5: 74,691,707 (GRCm39) |
P192T |
possibly damaging |
Het |
| Tm4sf19 |
A |
G |
16: 32,224,772 (GRCm39) |
N40S |
possibly damaging |
Het |
| Tmc2 |
T |
C |
2: 130,102,086 (GRCm39) |
|
probably benign |
Het |
| Tmem217 |
T |
C |
17: 29,745,566 (GRCm39) |
R55G |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,734,592 (GRCm39) |
D3205G |
possibly damaging |
Het |
| Vps13c |
A |
G |
9: 67,793,566 (GRCm39) |
N440D |
probably damaging |
Het |
| Wdr35 |
T |
C |
12: 9,055,838 (GRCm39) |
|
probably benign |
Het |
| Zfp110 |
T |
A |
7: 12,583,723 (GRCm39) |
H790Q |
probably damaging |
Het |
|
| Other mutations in Cadm4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01369:Cadm4
|
APN |
7 |
24,198,947 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02134:Cadm4
|
APN |
7 |
24,198,986 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03037:Cadm4
|
APN |
7 |
24,200,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03086:Cadm4
|
APN |
7 |
24,200,240 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0024:Cadm4
|
UTSW |
7 |
24,202,169 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1444:Cadm4
|
UTSW |
7 |
24,203,046 (GRCm39) |
makesense |
probably null |
|
|
R6177:Cadm4
|
UTSW |
7 |
24,202,186 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6389:Cadm4
|
UTSW |
7 |
24,198,959 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7143:Cadm4
|
UTSW |
7 |
24,198,992 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7822:Cadm4
|
UTSW |
7 |
24,202,970 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8134:Cadm4
|
UTSW |
7 |
24,203,030 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
X0026:Cadm4
|
UTSW |
7 |
24,199,349 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Posted On |
2013-06-21 |
Incidental Mutation