Incidental Mutation 'R4449:Cadm1'
| ID |
377707 |
| 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 |
041710-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4449 (G1)
|
| Quality Score |
64 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
47441471-47769413 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 47441735 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 22
(A22V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124119
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034581]
[ENSMUST00000085909]
[ENSMUST00000114547]
[ENSMUST00000114548]
[ENSMUST00000143026]
[ENSMUST00000152459]
[ENSMUST00000214542]
|
| AlphaFold |
Q8R5M8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034581
AA Change: A22V
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000034581
Gene: ENSMUSG00000032076
AA Change: A22V
| 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 |
possibly damaging
Transcript: ENSMUST00000085909
AA Change: A22V
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000083073
Gene: ENSMUSG00000032076
AA Change: A22V
| 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 |
possibly damaging
Transcript: ENSMUST00000114547
AA Change: A22V
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110194
Gene: ENSMUSG00000032076
AA Change: A22V
| 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 |
possibly damaging
Transcript: ENSMUST00000114548
AA Change: A22V
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110195
Gene: ENSMUSG00000032076
AA Change: A22V
| 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: A22V
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124555
Gene: ENSMUSG00000032076
AA Change: A22V
| 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: ENSMUST00000148925
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151624
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000152459
AA Change: A22V
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124119
Gene: ENSMUSG00000032076
AA Change: A22V
| 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: ENSMUST00000179708
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000214542
AA Change: A22V
|
| Meta Mutation Damage Score |
0.0612 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
98% (47/48) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgap3 |
A |
T |
15: 83,218,759 (GRCm39) |
Y105N |
probably damaging |
Het |
| Arid3b |
T |
A |
9: 57,705,404 (GRCm39) |
K266* |
probably null |
Het |
| Bend3 |
A |
G |
10: 43,388,079 (GRCm39) |
E824G |
possibly damaging |
Het |
| Bpifb6 |
A |
G |
2: 153,748,688 (GRCm39) |
E228G |
possibly damaging |
Het |
| Cntrob |
C |
A |
11: 69,196,375 (GRCm39) |
D687Y |
probably benign |
Het |
| Dap3 |
A |
T |
3: 88,857,185 (GRCm39) |
|
probably benign |
Het |
| Ddc |
T |
C |
11: 11,785,802 (GRCm39) |
D295G |
probably damaging |
Het |
| Fut10 |
T |
A |
8: 31,726,285 (GRCm39) |
Y347N |
probably damaging |
Het |
| Galnt2 |
A |
G |
8: 125,022,116 (GRCm39) |
D14G |
probably benign |
Het |
| Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
| Helz |
T |
C |
11: 107,494,989 (GRCm39) |
V321A |
probably benign |
Het |
| Hnrnpul1 |
T |
C |
7: 25,421,709 (GRCm39) |
|
probably benign |
Het |
| Hsdl2 |
T |
A |
4: 59,617,692 (GRCm39) |
I353K |
possibly damaging |
Het |
| Igkv3-2 |
G |
A |
6: 70,675,825 (GRCm39) |
A45T |
probably benign |
Het |
| Kcnh6 |
A |
G |
11: 105,909,762 (GRCm39) |
Y429C |
probably damaging |
Het |
| Luzp1 |
T |
A |
4: 136,268,174 (GRCm39) |
N132K |
probably damaging |
Het |
| Mlycd |
T |
A |
8: 120,137,144 (GRCm39) |
Y455N |
probably damaging |
Het |
| Myl7 |
C |
T |
11: 5,847,354 (GRCm39) |
D115N |
probably damaging |
Het |
| Or52s1 |
A |
T |
7: 102,861,687 (GRCm39) |
I196F |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 57,877,827 (GRCm39) |
T461A |
probably damaging |
Het |
| Pi4kb |
C |
T |
3: 94,892,046 (GRCm39) |
S254L |
probably benign |
Het |
| Pitpnc1 |
A |
G |
11: 107,107,535 (GRCm39) |
V257A |
probably benign |
Het |
| Prpf40b |
A |
G |
15: 99,212,544 (GRCm39) |
D596G |
probably damaging |
Het |
| Rngtt |
T |
C |
4: 33,330,865 (GRCm39) |
F156S |
probably damaging |
Het |
| Sema3c |
A |
G |
5: 17,781,844 (GRCm39) |
|
probably benign |
Het |
| Shisa6 |
T |
C |
11: 66,416,244 (GRCm39) |
T183A |
probably benign |
Het |
| Skint3 |
T |
A |
4: 112,127,206 (GRCm39) |
V287E |
possibly damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Slc17a3 |
A |
T |
13: 24,040,715 (GRCm39) |
S392C |
probably damaging |
Het |
| Snx14 |
T |
C |
9: 88,305,052 (GRCm39) |
I81V |
probably benign |
Het |
| Tdrd6 |
C |
T |
17: 43,940,626 (GRCm39) |
G141S |
probably benign |
Het |
| Trappc12 |
A |
T |
12: 28,797,234 (GRCm39) |
D99E |
probably benign |
Het |
| Trim34b |
T |
C |
7: 103,984,935 (GRCm39) |
C318R |
probably benign |
Het |
| Ttc39a |
T |
C |
4: 109,299,500 (GRCm39) |
I449T |
possibly damaging |
Het |
| Twsg1 |
A |
C |
17: 66,233,305 (GRCm39) |
V215G |
possibly damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Ubr1 |
A |
G |
2: 120,776,862 (GRCm39) |
V293A |
possibly damaging |
Het |
| Unk |
G |
A |
11: 115,944,460 (GRCm39) |
G404S |
probably damaging |
Het |
| Virma |
T |
C |
4: 11,498,828 (GRCm39) |
|
probably null |
Het |
| Vps13b |
T |
C |
15: 35,876,939 (GRCm39) |
V2864A |
possibly damaging |
Het |
| Wdfy4 |
T |
A |
14: 32,818,040 (GRCm39) |
R1492W |
probably damaging |
Het |
| Zcchc3 |
G |
C |
2: 152,256,642 (GRCm39) |
P19R |
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 |
|
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 |
47,725,286 (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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATATTTGCATAGGCCCCGC -3'
(R):5'- CGCCGCTTTGGATTTAGGAAG -3'
Sequencing Primer
(F):5'- TCGAGGTGCCACGATTGGTC -3'
(R):5'- AAGTGGGGGAAGGTTGTCATG -3'
|
| Posted On |
2016-03-21 |
Incidental Mutation