Incidental Mutation 'IGL01697:Cadm1'
| ID |
104315 |
| 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 # |
IGL01697
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
47441471-47769413 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 47761622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 435
(D435E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083073
(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: D396E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034581
Gene: ENSMUSG00000032076
AA Change: D396E
| 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: D435E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083073
Gene: ENSMUSG00000032076
AA Change: D435E
| 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: D424E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110194
Gene: ENSMUSG00000032076
AA Change: D424E
| 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: D407E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110195
Gene: ENSMUSG00000032076
AA Change: D407E
| 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 |
probably damaging
Transcript: ENSMUST00000152459
AA Change: D453E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124119
Gene: ENSMUSG00000032076
AA Change: D453E
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430015G10Rik |
T |
A |
4: 156,203,613 (GRCm39) |
|
probably benign |
Het |
| Arid2 |
A |
C |
15: 96,259,453 (GRCm39) |
|
probably null |
Het |
| Dagla |
A |
G |
19: 10,248,562 (GRCm39) |
F33L |
probably benign |
Het |
| Edrf1 |
A |
G |
7: 133,245,459 (GRCm39) |
H199R |
probably benign |
Het |
| F5 |
T |
A |
1: 164,021,621 (GRCm39) |
N1365K |
probably benign |
Het |
| Gipc2 |
T |
G |
3: 151,843,245 (GRCm39) |
I131L |
probably benign |
Het |
| Gpc1 |
C |
T |
1: 92,786,132 (GRCm39) |
S507F |
possibly damaging |
Het |
| Grid1 |
A |
G |
14: 35,031,214 (GRCm39) |
D269G |
probably benign |
Het |
| Ighv12-3 |
A |
T |
12: 114,330,573 (GRCm39) |
M1K |
probably null |
Het |
| Kif5b |
T |
C |
18: 6,226,871 (GRCm39) |
H129R |
possibly damaging |
Het |
| Lipo3 |
A |
T |
19: 33,536,965 (GRCm39) |
C252S |
probably damaging |
Het |
| Mast4 |
A |
C |
13: 102,904,401 (GRCm39) |
N645K |
probably damaging |
Het |
| Megf9 |
T |
A |
4: 70,351,709 (GRCm39) |
T471S |
possibly damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,953,477 (GRCm39) |
D586G |
possibly damaging |
Het |
| Ninl |
A |
T |
2: 150,781,867 (GRCm39) |
L1206Q |
probably damaging |
Het |
| Oog2 |
T |
A |
4: 143,921,754 (GRCm39) |
N221K |
possibly damaging |
Het |
| Or13a17 |
T |
C |
7: 140,271,565 (GRCm39) |
V249A |
possibly damaging |
Het |
| Or5b96 |
T |
A |
19: 12,867,831 (GRCm39) |
T37S |
probably benign |
Het |
| Or6c8b |
C |
A |
10: 128,882,371 (GRCm39) |
C187F |
probably damaging |
Het |
| Pik3ap1 |
G |
A |
19: 41,313,018 (GRCm39) |
A365V |
probably damaging |
Het |
| Ppwd1 |
T |
C |
13: 104,356,972 (GRCm39) |
E181G |
probably benign |
Het |
| Scaf11 |
A |
C |
15: 96,321,504 (GRCm39) |
|
probably benign |
Het |
| Skic3 |
C |
T |
13: 76,276,852 (GRCm39) |
L479F |
probably benign |
Het |
| Skint7 |
T |
A |
4: 111,837,654 (GRCm39) |
|
probably benign |
Het |
| Sox14 |
T |
C |
9: 99,757,716 (GRCm39) |
I8V |
probably benign |
Het |
| Spata31f3 |
T |
A |
4: 42,874,163 (GRCm39) |
M2L |
probably benign |
Het |
| Stim1 |
A |
T |
7: 102,075,176 (GRCm39) |
|
probably benign |
Het |
| Ttll3 |
T |
C |
6: 113,376,690 (GRCm39) |
S357P |
probably benign |
Het |
| Vmn1r178 |
T |
A |
7: 23,593,114 (GRCm39) |
I54N |
probably damaging |
Het |
| Zdhhc2 |
T |
C |
8: 40,920,460 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Cadm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation