Incidental Mutation 'R0058:Cadm1'
ID |
16915 |
Institutional Source |
Beutler Lab
|
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 |
MMRRC Submission |
038352-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0058 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
47441471-47769413 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 47761629 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 427
(I427L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110194
(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: I399L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000034581 Gene: ENSMUSG00000032076 AA Change: I399L
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: I438L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000083073 Gene: ENSMUSG00000032076 AA Change: I438L
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: I427L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110194 Gene: ENSMUSG00000032076 AA Change: I427L
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: I410L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000110195 Gene: ENSMUSG00000032076 AA Change: I410L
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 |
probably benign
Transcript: ENSMUST00000143026
|
SMART Domains |
Protein: ENSMUSP00000124555 Gene: ENSMUSG00000032076
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 |
possibly damaging
Transcript: ENSMUST00000152459
AA Change: I456L
PolyPhen 2
Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000124119 Gene: ENSMUSG00000032076 AA Change: I456L
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 |
|
Meta Mutation Damage Score |
0.2023 |
Coding Region Coverage |
- 1x: 87.4%
- 3x: 82.9%
- 10x: 66.9%
- 20x: 41.4%
|
Validation Efficiency |
85% (62/73) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
G |
13: 81,330,791 (GRCm39) |
V6088A |
possibly damaging |
Het |
Ankrd36 |
A |
G |
11: 5,580,691 (GRCm39) |
|
probably benign |
Het |
Anxa1 |
A |
T |
19: 20,361,141 (GRCm39) |
Y84N |
probably damaging |
Het |
Arnt2 |
G |
A |
7: 83,996,738 (GRCm39) |
R63C |
probably damaging |
Het |
Avpr1b |
A |
G |
1: 131,527,524 (GRCm39) |
T16A |
probably benign |
Het |
Cables1 |
A |
G |
18: 12,056,470 (GRCm39) |
E316G |
possibly damaging |
Het |
Dazap1 |
T |
C |
10: 80,097,415 (GRCm39) |
|
probably benign |
Het |
Dip2b |
A |
G |
15: 100,113,121 (GRCm39) |
E1512G |
probably benign |
Het |
Dock1 |
G |
A |
7: 134,710,490 (GRCm39) |
V1171M |
possibly damaging |
Het |
Dock5 |
A |
T |
14: 68,018,485 (GRCm39) |
F1230Y |
probably benign |
Het |
Dst |
T |
C |
1: 34,045,305 (GRCm39) |
S13P |
possibly damaging |
Het |
Dym |
G |
A |
18: 75,176,243 (GRCm39) |
E15K |
possibly damaging |
Het |
Faf1 |
A |
G |
4: 109,593,821 (GRCm39) |
Q133R |
probably benign |
Het |
Fcer2a |
T |
C |
8: 3,738,111 (GRCm39) |
|
probably benign |
Het |
Fmo2 |
A |
T |
1: 162,713,893 (GRCm39) |
S204R |
probably benign |
Het |
Ghitm |
A |
G |
14: 36,853,549 (GRCm39) |
L97P |
probably damaging |
Het |
Gins4 |
A |
G |
8: 23,719,526 (GRCm39) |
|
probably benign |
Het |
Gm10573 |
G |
A |
4: 121,754,005 (GRCm39) |
|
|
Het |
Golga3 |
T |
A |
5: 110,350,643 (GRCm39) |
F766Y |
possibly damaging |
Het |
Hapln1 |
T |
C |
13: 89,755,997 (GRCm39) |
I267T |
probably benign |
Het |
Helz |
A |
T |
11: 107,563,384 (GRCm39) |
|
probably benign |
Het |
Igll1 |
A |
T |
16: 16,681,740 (GRCm39) |
V5E |
probably benign |
Het |
Kif16b |
A |
G |
2: 142,699,225 (GRCm39) |
|
probably null |
Het |
Limk1 |
A |
T |
5: 134,688,725 (GRCm39) |
W507R |
probably damaging |
Het |
Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
Mtif3 |
C |
A |
5: 146,893,731 (GRCm39) |
V159F |
probably benign |
Het |
Ncoa7 |
T |
A |
10: 30,523,537 (GRCm39) |
D887V |
probably damaging |
Het |
Pkd1 |
G |
C |
17: 24,783,677 (GRCm39) |
A162P |
probably benign |
Het |
Plce1 |
A |
G |
19: 38,513,628 (GRCm39) |
D309G |
possibly damaging |
Het |
Plk4 |
T |
C |
3: 40,760,307 (GRCm39) |
V401A |
probably benign |
Het |
Prrc2c |
C |
T |
1: 162,526,453 (GRCm39) |
V253I |
unknown |
Het |
Ranbp2 |
T |
A |
10: 58,316,353 (GRCm39) |
S2358T |
probably damaging |
Het |
Setd2 |
T |
A |
9: 110,423,494 (GRCm39) |
V2183E |
probably damaging |
Het |
Sgsm1 |
T |
A |
5: 113,432,953 (GRCm39) |
S232C |
probably damaging |
Het |
Skint6 |
A |
T |
4: 112,904,012 (GRCm39) |
|
probably benign |
Het |
Slc15a2 |
A |
G |
16: 36,574,909 (GRCm39) |
I531T |
probably benign |
Het |
Slc36a1 |
C |
T |
11: 55,112,820 (GRCm39) |
|
probably benign |
Het |
Sptan1 |
T |
C |
2: 29,883,708 (GRCm39) |
|
probably null |
Het |
Tex15 |
C |
T |
8: 34,071,530 (GRCm39) |
|
probably benign |
Het |
Tlr9 |
T |
G |
9: 106,102,164 (GRCm39) |
L485R |
possibly damaging |
Het |
Tmem207 |
A |
G |
16: 26,343,579 (GRCm39) |
|
probably benign |
Het |
Triml2 |
T |
C |
8: 43,638,306 (GRCm39) |
|
probably benign |
Het |
Tspear |
T |
C |
10: 77,705,465 (GRCm39) |
F288L |
probably benign |
Het |
Zfp644 |
A |
T |
5: 106,784,869 (GRCm39) |
S559R |
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 |
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 |
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 |
2013-01-20 |