Incidental Mutation 'IGL03196:Cadm1'
| ID |
412822 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cadm1
|
| Ensembl Gene |
ENSMUSG00000032076 |
| Gene Name |
cell adhesion molecule 1 |
| Synonyms |
RA175N, RA175B, 2900073G06Rik, 3100001I08Rik, Tslc1, Igsf4, RA175A, SgIGSF, SynCam, Necl2, RA175C, Igsf4a |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03196
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
47441471-47769413 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47710675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 193
(S193P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124119
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034581]
[ENSMUST00000085909]
[ENSMUST00000114547]
[ENSMUST00000114548]
[ENSMUST00000143026]
[ENSMUST00000152459]
|
| AlphaFold |
Q8R5M8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034581
AA Change: S193P
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000034581
Gene: ENSMUSG00000032076
AA Change: S193P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
41 |
N/A |
INTRINSIC |
|
IG
|
52 |
144 |
3.33e-9 |
SMART |
|
IG_like
|
160 |
230 |
8.08e-1 |
SMART |
|
IGc2
|
261 |
323 |
2.08e-10 |
SMART |
|
low complexity region
|
345 |
360 |
N/A |
INTRINSIC |
|
4.1m
|
370 |
388 |
1.5e-3 |
SMART |
|
low complexity region
|
389 |
396 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085909
AA Change: S193P
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000083073
Gene: ENSMUSG00000032076
AA Change: S193P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
41 |
N/A |
INTRINSIC |
|
IG
|
52 |
144 |
3.33e-9 |
SMART |
|
IG_like
|
160 |
230 |
8.08e-1 |
SMART |
|
IGc2
|
261 |
323 |
2.08e-10 |
SMART |
|
low complexity region
|
336 |
368 |
N/A |
INTRINSIC |
|
low complexity region
|
384 |
399 |
N/A |
INTRINSIC |
|
4.1m
|
409 |
427 |
1.5e-3 |
SMART |
|
low complexity region
|
428 |
435 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114547
AA Change: S193P
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000110194
Gene: ENSMUSG00000032076
AA Change: S193P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
41 |
N/A |
INTRINSIC |
|
IG
|
52 |
144 |
3.33e-9 |
SMART |
|
IG_like
|
160 |
230 |
8.08e-1 |
SMART |
|
IGc2
|
261 |
323 |
2.08e-10 |
SMART |
|
low complexity region
|
336 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
388 |
N/A |
INTRINSIC |
|
4.1m
|
398 |
416 |
1.5e-3 |
SMART |
|
low complexity region
|
417 |
424 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114548
AA Change: S193P
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000110195
Gene: ENSMUSG00000032076
AA Change: S193P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
41 |
N/A |
INTRINSIC |
|
IG
|
52 |
144 |
3.33e-9 |
SMART |
|
IG_like
|
160 |
230 |
8.08e-1 |
SMART |
|
IGc2
|
261 |
323 |
2.08e-10 |
SMART |
|
low complexity region
|
356 |
371 |
N/A |
INTRINSIC |
|
4.1m
|
381 |
399 |
1.5e-3 |
SMART |
|
low complexity region
|
400 |
407 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124073
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143026
AA Change: S193P
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000124555
Gene: ENSMUSG00000032076
AA Change: S193P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
41 |
N/A |
INTRINSIC |
|
IG
|
52 |
144 |
3.33e-9 |
SMART |
|
IG_like
|
160 |
230 |
8.08e-1 |
SMART |
|
IGc2
|
261 |
323 |
2.08e-10 |
SMART |
|
transmembrane domain
|
349 |
371 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151624
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000152459
AA Change: S193P
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124119
Gene: ENSMUSG00000032076
AA Change: S193P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
47 |
N/A |
INTRINSIC |
|
IG
|
52 |
144 |
3.33e-9 |
SMART |
|
IG_like
|
160 |
230 |
8.08e-1 |
SMART |
|
IGc2
|
261 |
323 |
2.08e-10 |
SMART |
|
low complexity region
|
336 |
368 |
N/A |
INTRINSIC |
|
low complexity region
|
402 |
417 |
N/A |
INTRINSIC |
|
4.1m
|
427 |
445 |
1.5e-3 |
SMART |
|
low complexity region
|
446 |
453 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutant male show infertility due to block in maturation of spermatogenesis. Mice homozygous for a gene trap allele exhibit decreased body size, impaired T cell development, and impaired T cell response to anti-CD3/CD28 antibody stimulation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
T |
C |
6: 83,138,045 (GRCm39) |
V57A |
probably damaging |
Het |
| Adck1 |
T |
C |
12: 88,397,885 (GRCm39) |
V173A |
probably damaging |
Het |
| Adgrv1 |
C |
A |
13: 81,594,597 (GRCm39) |
R4139L |
probably benign |
Het |
| Aqp4 |
T |
G |
18: 15,526,566 (GRCm39) |
D305A |
probably benign |
Het |
| Ccdc88a |
T |
C |
11: 29,432,340 (GRCm39) |
S377P |
possibly damaging |
Het |
| Clic5 |
C |
A |
17: 44,552,960 (GRCm39) |
H71Q |
possibly damaging |
Het |
| Col20a1 |
G |
A |
2: 180,649,671 (GRCm39) |
|
probably null |
Het |
| Col5a1 |
A |
G |
2: 27,865,610 (GRCm39) |
D759G |
unknown |
Het |
| Cplane1 |
A |
T |
15: 8,230,826 (GRCm39) |
K1034N |
probably damaging |
Het |
| Cpt1b |
A |
G |
15: 89,308,598 (GRCm39) |
V110A |
probably benign |
Het |
| Cts8 |
C |
T |
13: 61,401,272 (GRCm39) |
G85S |
probably benign |
Het |
| Cul5 |
T |
A |
9: 53,537,180 (GRCm39) |
M551L |
probably damaging |
Het |
| Eno1b |
T |
A |
18: 48,180,558 (GRCm39) |
D245E |
probably damaging |
Het |
| Fgf1 |
A |
T |
18: 38,975,028 (GRCm39) |
Y140* |
probably null |
Het |
| Flt1 |
A |
G |
5: 147,551,937 (GRCm39) |
|
probably null |
Het |
| Fndc7 |
A |
G |
3: 108,790,760 (GRCm39) |
Y89H |
probably damaging |
Het |
| Gm3127 |
A |
T |
14: 15,432,259 (GRCm39) |
M254L |
probably benign |
Het |
| Gm5849 |
T |
C |
3: 90,685,089 (GRCm39) |
E32G |
probably damaging |
Het |
| Gys1 |
T |
C |
7: 45,104,241 (GRCm39) |
|
probably benign |
Het |
| H2ap |
A |
G |
X: 9,713,349 (GRCm39) |
Q27R |
possibly damaging |
Het |
| Hdgfl2 |
T |
C |
17: 56,400,607 (GRCm39) |
V125A |
probably benign |
Het |
| Igkv6-32 |
C |
T |
6: 70,051,042 (GRCm39) |
V105I |
probably benign |
Het |
| Lmo3 |
T |
C |
6: 138,342,993 (GRCm39) |
T140A |
probably benign |
Het |
| Marf1 |
A |
G |
16: 13,958,123 (GRCm39) |
V793A |
possibly damaging |
Het |
| Mep1b |
A |
C |
18: 21,228,121 (GRCm39) |
I575L |
probably benign |
Het |
| Mtmr4 |
T |
A |
11: 87,491,609 (GRCm39) |
I155N |
possibly damaging |
Het |
| Muc2 |
T |
C |
7: 141,301,367 (GRCm39) |
F361L |
probably damaging |
Het |
| Ncoa7 |
T |
A |
10: 30,523,510 (GRCm39) |
|
probably benign |
Het |
| Nme6 |
C |
T |
9: 109,670,561 (GRCm39) |
R71W |
probably damaging |
Het |
| Or56b1b |
T |
C |
7: 108,164,061 (GRCm39) |
S314G |
probably benign |
Het |
| Or9g4b |
G |
A |
2: 85,616,365 (GRCm39) |
G170D |
possibly damaging |
Het |
| Or9m2 |
A |
T |
2: 87,820,826 (GRCm39) |
I124F |
possibly damaging |
Het |
| Osbpl9 |
C |
T |
4: 108,930,061 (GRCm39) |
V357I |
probably damaging |
Het |
| Ppp4r3a |
A |
G |
12: 101,015,913 (GRCm39) |
|
probably benign |
Het |
| Rnf216 |
T |
C |
5: 143,066,766 (GRCm39) |
R474G |
probably damaging |
Het |
| Rpp25l |
A |
G |
4: 41,712,541 (GRCm39) |
V78A |
possibly damaging |
Het |
| Sh3bp2 |
C |
A |
5: 34,714,687 (GRCm39) |
P245Q |
probably damaging |
Het |
| Slc33a1 |
A |
G |
3: 63,871,151 (GRCm39) |
F154S |
possibly damaging |
Het |
| Wasf2 |
T |
A |
4: 132,921,732 (GRCm39) |
S284T |
unknown |
Het |
| Wdtc1 |
T |
C |
4: 133,022,648 (GRCm39) |
E566G |
probably damaging |
Het |
| Zcchc14 |
C |
T |
8: 122,335,877 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Cadm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01697:Cadm1
|
APN |
9 |
47,761,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01899:Cadm1
|
APN |
9 |
47,721,389 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02154:Cadm1
|
APN |
9 |
47,725,201 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0053:Cadm1
|
UTSW |
9 |
47,710,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0053:Cadm1
|
UTSW |
9 |
47,710,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0058:Cadm1
|
UTSW |
9 |
47,761,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0058:Cadm1
|
UTSW |
9 |
47,761,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0671:Cadm1
|
UTSW |
9 |
47,725,104 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0717:Cadm1
|
UTSW |
9 |
47,721,366 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1622:Cadm1
|
UTSW |
9 |
47,725,139 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1817:Cadm1
|
UTSW |
9 |
47,740,668 (GRCm39) |
splice site |
probably benign |
|
|
R1958:Cadm1
|
UTSW |
9 |
47,761,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3124:Cadm1
|
UTSW |
9 |
47,710,775 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4214:Cadm1
|
UTSW |
9 |
47,708,741 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4449:Cadm1
|
UTSW |
9 |
47,441,735 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4449:Cadm1
|
UTSW |
9 |
47,725,286 (GRCm39) |
intron |
probably benign |
|
|
R4701:Cadm1
|
UTSW |
9 |
47,730,120 (GRCm39) |
splice site |
probably benign |
|
|
R5932:Cadm1
|
UTSW |
9 |
47,710,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6013:Cadm1
|
UTSW |
9 |
47,768,572 (GRCm39) |
unclassified |
probably benign |
|
|
R6315:Cadm1
|
UTSW |
9 |
47,721,417 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6481:Cadm1
|
UTSW |
9 |
47,699,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7121:Cadm1
|
UTSW |
9 |
47,710,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7582:Cadm1
|
UTSW |
9 |
47,708,740 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8710:Cadm1
|
UTSW |
9 |
47,759,466 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8943:Cadm1
|
UTSW |
9 |
47,701,136 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9258:Cadm1
|
UTSW |
9 |
47,710,730 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9300:Cadm1
|
UTSW |
9 |
47,708,821 (GRCm39) |
nonsense |
probably null |
|
|
R9675:Cadm1
|
UTSW |
9 |
47,441,752 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2016-08-02 |
Incidental Mutation