Incidental Mutation 'IGL02154:Cadm1'
ID |
282173 |
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 # |
IGL02154
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
47441471-47769413 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 47725201 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 321
(I321L)
|
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: I321L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000034581 Gene: ENSMUSG00000032076 AA Change: I321L
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: I321L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000083073 Gene: ENSMUSG00000032076 AA Change: I321L
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: I321L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110194 Gene: ENSMUSG00000032076 AA Change: I321L
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: I321L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110195 Gene: ENSMUSG00000032076 AA Change: I321L
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: I321L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000124555 Gene: ENSMUSG00000032076 AA Change: I321L
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 |
probably benign
Transcript: ENSMUST00000152459
AA Change: I321L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000124119 Gene: ENSMUSG00000032076 AA Change: I321L
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151624
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Armc3 |
G |
A |
2: 19,290,948 (GRCm39) |
|
probably null |
Het |
Armh4 |
G |
A |
14: 50,010,399 (GRCm39) |
T436I |
possibly damaging |
Het |
AW551984 |
G |
A |
9: 39,500,398 (GRCm39) |
R787C |
possibly damaging |
Het |
Cfap57 |
A |
G |
4: 118,470,214 (GRCm39) |
L222P |
probably damaging |
Het |
Cox20 |
A |
G |
1: 178,150,119 (GRCm39) |
I98V |
probably benign |
Het |
Dmrta1 |
A |
G |
4: 89,580,150 (GRCm39) |
N370S |
probably benign |
Het |
Dnah17 |
A |
G |
11: 118,015,087 (GRCm39) |
F386L |
probably benign |
Het |
Fam135b |
T |
C |
15: 71,320,559 (GRCm39) |
I1323V |
probably benign |
Het |
Fndc3b |
A |
G |
3: 27,592,266 (GRCm39) |
S211P |
probably damaging |
Het |
Galnt10 |
T |
G |
11: 57,675,531 (GRCm39) |
L597V |
probably damaging |
Het |
Gtf2e2 |
T |
C |
8: 34,245,989 (GRCm39) |
|
probably null |
Het |
Inpp4b |
T |
A |
8: 82,696,130 (GRCm39) |
|
probably benign |
Het |
Irag2 |
T |
G |
6: 145,083,967 (GRCm39) |
M44R |
possibly damaging |
Het |
Lacc1 |
A |
G |
14: 77,270,727 (GRCm39) |
V269A |
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,740,395 (GRCm39) |
D3750G |
probably benign |
Het |
Mme |
A |
T |
3: 63,250,976 (GRCm39) |
Q339L |
probably benign |
Het |
Mmp3 |
A |
T |
9: 7,453,662 (GRCm39) |
I428L |
probably benign |
Het |
Myrf |
A |
T |
19: 10,193,482 (GRCm39) |
I558N |
probably damaging |
Het |
Or52e8 |
C |
T |
7: 104,625,188 (GRCm39) |
M1I |
probably null |
Het |
Phb1 |
A |
G |
11: 95,565,997 (GRCm39) |
I94V |
possibly damaging |
Het |
Prg4 |
T |
A |
1: 150,330,613 (GRCm39) |
|
probably benign |
Het |
Sirpb1a |
T |
C |
3: 15,475,504 (GRCm39) |
T344A |
probably damaging |
Het |
Skap2 |
T |
C |
6: 51,989,308 (GRCm39) |
|
probably benign |
Het |
Slc29a1 |
A |
G |
17: 45,897,089 (GRCm39) |
I399T |
probably damaging |
Het |
Sorl1 |
C |
T |
9: 41,915,330 (GRCm39) |
V1300I |
probably benign |
Het |
Tas2r117 |
T |
C |
6: 132,780,678 (GRCm39) |
V272A |
probably benign |
Het |
Tctn2 |
C |
A |
5: 124,746,624 (GRCm39) |
|
noncoding transcript |
Het |
Tmem51 |
T |
C |
4: 141,759,089 (GRCm39) |
N220D |
probably damaging |
Het |
Trak2 |
T |
C |
1: 58,947,888 (GRCm39) |
D584G |
probably damaging |
Het |
Vmn1r78 |
A |
G |
7: 11,886,472 (GRCm39) |
I28V |
probably benign |
Het |
Vmn2r95 |
A |
C |
17: 18,672,248 (GRCm39) |
I662L |
probably benign |
Het |
Vwa8 |
C |
A |
14: 79,086,733 (GRCm39) |
R4S |
possibly damaging |
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 |
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 |
2015-04-16 |