Incidental Mutation 'IGL01899:Cadm1'
| ID |
179476 |
| 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 # |
IGL01899
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
47441471-47769413 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 47721389 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 260
(T260A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110195
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034581]
[ENSMUST00000085909]
[ENSMUST00000114547]
[ENSMUST00000114548]
[ENSMUST00000143026]
[ENSMUST00000152459]
|
| AlphaFold |
Q8R5M8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034581
AA Change: T260A
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000034581
Gene: ENSMUSG00000032076
AA Change: T260A
| 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 damaging
Transcript: ENSMUST00000085909
AA Change: T260A
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000083073
Gene: ENSMUSG00000032076
AA Change: T260A
| 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 damaging
Transcript: ENSMUST00000114547
AA Change: T260A
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110194
Gene: ENSMUSG00000032076
AA Change: T260A
| 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 damaging
Transcript: ENSMUST00000114548
AA Change: T260A
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110195
Gene: ENSMUSG00000032076
AA Change: T260A
| 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 |
possibly damaging
Transcript: ENSMUST00000143026
AA Change: T260A
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124555
Gene: ENSMUSG00000032076
AA Change: T260A
| 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 |
probably damaging
Transcript: ENSMUST00000152459
AA Change: T260A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124119
Gene: ENSMUSG00000032076
AA Change: T260A
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bicral |
G |
A |
17: 47,135,600 (GRCm39) |
P537S |
probably benign |
Het |
| Ddr2 |
C |
A |
1: 169,811,991 (GRCm39) |
G744C |
probably damaging |
Het |
| Epha6 |
A |
C |
16: 59,659,666 (GRCm39) |
N817K |
probably benign |
Het |
| Far2 |
A |
G |
6: 148,047,527 (GRCm39) |
K69E |
probably benign |
Het |
| Fasn |
G |
A |
11: 120,710,975 (GRCm39) |
|
probably benign |
Het |
| Ficd |
A |
G |
5: 113,875,158 (GRCm39) |
T76A |
probably benign |
Het |
| Flot1 |
A |
T |
17: 36,141,573 (GRCm39) |
I327L |
probably benign |
Het |
| Fscn3 |
A |
T |
6: 28,436,078 (GRCm39) |
E458V |
probably damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Lepr |
A |
G |
4: 101,637,184 (GRCm39) |
E691G |
possibly damaging |
Het |
| Ly9 |
T |
A |
1: 171,434,815 (GRCm39) |
Q26L |
probably damaging |
Het |
| Or5p60 |
T |
C |
7: 107,724,048 (GRCm39) |
T141A |
probably benign |
Het |
| Pisd |
C |
A |
5: 32,896,476 (GRCm39) |
|
probably null |
Het |
| Plxna2 |
C |
T |
1: 194,433,796 (GRCm39) |
S615L |
probably damaging |
Het |
| Ppfia2 |
T |
C |
10: 106,751,612 (GRCm39) |
|
probably null |
Het |
| Ppox |
A |
G |
1: 171,104,655 (GRCm39) |
V470A |
probably benign |
Het |
| Rptor |
T |
A |
11: 119,748,279 (GRCm39) |
S4T |
probably benign |
Het |
| Sf3a1 |
T |
A |
11: 4,121,063 (GRCm39) |
I218N |
probably damaging |
Het |
| Stxbp5l |
T |
C |
16: 37,020,954 (GRCm39) |
S647G |
probably benign |
Het |
| Sytl1 |
C |
T |
4: 132,986,167 (GRCm39) |
|
probably null |
Het |
| Tbx6 |
C |
T |
7: 126,383,704 (GRCm39) |
|
probably benign |
Het |
| Thg1l |
C |
A |
11: 45,845,018 (GRCm39) |
R78L |
probably damaging |
Het |
| Tlr1 |
T |
C |
5: 65,084,359 (GRCm39) |
K73E |
probably damaging |
Het |
| Trpm1 |
T |
A |
7: 63,884,742 (GRCm39) |
F808I |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
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 |
|
IGL02154:Cadm1
|
APN |
9 |
47,725,201 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03196:Cadm1
|
APN |
9 |
47,710,675 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
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 |
2014-05-07 |
Incidental Mutation