Incidental Mutation 'R0378:Tcam1'
| ID |
36483 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcam1
|
| Ensembl Gene |
ENSMUSG00000020712 |
| Gene Name |
testicular cell adhesion molecule 1 |
| Synonyms |
4930570F09Rik |
| MMRRC Submission |
038584-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0378 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
106167498-106179571 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 106174904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 120
(E120K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044757
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044462]
[ENSMUST00000142472]
|
| AlphaFold |
Q99NB3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044462
AA Change: E120K
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000044757
Gene: ENSMUSG00000020712
AA Change: E120K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:ICAM_N
|
22 |
112 |
5.4e-30 |
PFAM |
|
IG_like
|
117 |
214 |
1.66e2 |
SMART |
|
IG_like
|
316 |
397 |
5.04e1 |
SMART |
|
IG
|
408 |
478 |
2.79e0 |
SMART |
|
transmembrane domain
|
488 |
510 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142472
AA Change: E120K
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000115544
Gene: ENSMUSG00000020712
AA Change: E120K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:ICAM_N
|
22 |
112 |
3.2e-30 |
PFAM |
|
Pfam:Ig_2
|
109 |
214 |
1.7e-2 |
PFAM |
|
Pfam:Ig_2
|
311 |
396 |
5.1e-3 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
95% (40/42) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal male fertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
C |
A |
8: 114,469,749 (GRCm39) |
R651L |
probably damaging |
Het |
| Amd1 |
T |
C |
10: 40,165,380 (GRCm39) |
D317G |
possibly damaging |
Het |
| Artn |
A |
G |
4: 117,784,815 (GRCm39) |
|
probably benign |
Het |
| Bub1b |
T |
A |
2: 118,471,604 (GRCm39) |
V988E |
probably benign |
Het |
| Cyp2c65 |
G |
T |
19: 39,061,662 (GRCm39) |
C216F |
probably benign |
Het |
| Cyp3a11 |
T |
C |
5: 145,805,417 (GRCm39) |
E200G |
probably benign |
Het |
| Cyp3a25 |
T |
A |
5: 145,923,652 (GRCm39) |
K330N |
probably damaging |
Het |
| Duox2 |
C |
A |
2: 122,115,064 (GRCm39) |
V1138L |
probably benign |
Het |
| Erc2 |
A |
G |
14: 27,733,651 (GRCm39) |
D567G |
probably damaging |
Het |
| Eri2 |
A |
G |
7: 119,393,139 (GRCm39) |
|
probably null |
Het |
| Foxa3 |
A |
G |
7: 18,757,294 (GRCm39) |
Y17H |
probably damaging |
Het |
| Fto |
T |
C |
8: 92,200,940 (GRCm39) |
S324P |
probably damaging |
Het |
| Get3 |
A |
T |
8: 85,751,893 (GRCm39) |
M1K |
probably null |
Het |
| Gls2 |
T |
G |
10: 128,043,180 (GRCm39) |
L457R |
probably benign |
Het |
| Gstcd |
A |
T |
3: 132,692,169 (GRCm39) |
L582H |
probably damaging |
Het |
| Gtf3c1 |
G |
A |
7: 125,246,786 (GRCm39) |
R1508* |
probably null |
Het |
| Kif21a |
T |
C |
15: 90,853,977 (GRCm39) |
|
probably null |
Het |
| Klra5 |
A |
T |
6: 129,883,577 (GRCm39) |
D93E |
possibly damaging |
Het |
| Lgr5 |
T |
C |
10: 115,290,404 (GRCm39) |
D456G |
probably damaging |
Het |
| Mau2 |
A |
G |
8: 70,483,305 (GRCm39) |
S186P |
probably damaging |
Het |
| Msr1 |
T |
C |
8: 40,042,423 (GRCm39) |
D384G |
possibly damaging |
Het |
| Ncf4 |
T |
C |
15: 78,137,503 (GRCm39) |
V93A |
probably damaging |
Het |
| Oas1f |
T |
G |
5: 120,994,489 (GRCm39) |
C337G |
probably damaging |
Het |
| Or10al3 |
A |
G |
17: 38,011,932 (GRCm39) |
M124V |
probably damaging |
Het |
| Or5p58 |
A |
T |
7: 107,694,429 (GRCm39) |
F116Y |
probably benign |
Het |
| Or6c33 |
T |
A |
10: 129,853,872 (GRCm39) |
L214H |
probably damaging |
Het |
| Pwwp3a |
C |
A |
10: 80,074,713 (GRCm39) |
|
probably null |
Het |
| Rasl10b |
T |
C |
11: 83,309,519 (GRCm39) |
S159P |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Smg8 |
C |
A |
11: 86,971,249 (GRCm39) |
D841Y |
probably damaging |
Het |
| Sox7 |
T |
C |
14: 64,181,398 (GRCm39) |
V65A |
probably damaging |
Het |
| Sp140 |
C |
T |
1: 85,547,772 (GRCm39) |
|
probably benign |
Het |
| Srsf10 |
A |
G |
4: 135,590,501 (GRCm39) |
Y142C |
possibly damaging |
Het |
| Tcerg1l |
A |
G |
7: 137,878,384 (GRCm39) |
V326A |
probably benign |
Het |
| Tcl1b5 |
T |
A |
12: 105,145,326 (GRCm39) |
W97R |
probably damaging |
Het |
| Tmem108 |
T |
C |
9: 103,376,856 (GRCm39) |
R198G |
possibly damaging |
Het |
| Ube2ql1 |
T |
A |
13: 69,887,017 (GRCm39) |
Q148L |
possibly damaging |
Het |
| Vmn1r5 |
A |
T |
6: 56,962,570 (GRCm39) |
I82L |
probably benign |
Het |
| Wdr6 |
A |
T |
9: 108,453,063 (GRCm39) |
S273R |
probably damaging |
Het |
| Ylpm1 |
C |
T |
12: 85,043,850 (GRCm39) |
|
probably benign |
Het |
| Zfp90 |
G |
A |
8: 107,152,138 (GRCm39) |
R617Q |
possibly damaging |
Het |
|
| Other mutations in Tcam1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03189:Tcam1
|
APN |
11 |
106,176,212 (GRCm39) |
missense |
probably benign |
|
|
IGL03396:Tcam1
|
APN |
11 |
106,176,212 (GRCm39) |
missense |
probably benign |
|
|
IGL03397:Tcam1
|
APN |
11 |
106,176,212 (GRCm39) |
missense |
probably benign |
|
|
R0241:Tcam1
|
UTSW |
11 |
106,174,904 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0241:Tcam1
|
UTSW |
11 |
106,174,904 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0306:Tcam1
|
UTSW |
11 |
106,174,904 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0313:Tcam1
|
UTSW |
11 |
106,174,904 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0380:Tcam1
|
UTSW |
11 |
106,174,904 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0381:Tcam1
|
UTSW |
11 |
106,174,904 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0382:Tcam1
|
UTSW |
11 |
106,174,904 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0393:Tcam1
|
UTSW |
11 |
106,175,040 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0401:Tcam1
|
UTSW |
11 |
106,174,904 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0448:Tcam1
|
UTSW |
11 |
106,174,904 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0537:Tcam1
|
UTSW |
11 |
106,174,904 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0602:Tcam1
|
UTSW |
11 |
106,174,904 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0669:Tcam1
|
UTSW |
11 |
106,176,252 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0706:Tcam1
|
UTSW |
11 |
106,174,904 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2307:Tcam1
|
UTSW |
11 |
106,174,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4957:Tcam1
|
UTSW |
11 |
106,173,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5050:Tcam1
|
UTSW |
11 |
106,176,278 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5269:Tcam1
|
UTSW |
11 |
106,176,353 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5437:Tcam1
|
UTSW |
11 |
106,176,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6235:Tcam1
|
UTSW |
11 |
106,174,880 (GRCm39) |
nonsense |
probably null |
|
|
R6248:Tcam1
|
UTSW |
11 |
106,173,652 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6302:Tcam1
|
UTSW |
11 |
106,177,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7399:Tcam1
|
UTSW |
11 |
106,174,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8236:Tcam1
|
UTSW |
11 |
106,177,243 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8402:Tcam1
|
UTSW |
11 |
106,177,731 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8751:Tcam1
|
UTSW |
11 |
106,176,443 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8801:Tcam1
|
UTSW |
11 |
106,173,618 (GRCm39) |
missense |
probably benign |
|
|
R9228:Tcam1
|
UTSW |
11 |
106,177,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9233:Tcam1
|
UTSW |
11 |
106,175,018 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9621:Tcam1
|
UTSW |
11 |
106,176,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tcam1
|
UTSW |
11 |
106,173,676 (GRCm39) |
missense |
probably benign |
0.20 |
|
Z1177:Tcam1
|
UTSW |
11 |
106,173,673 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAGCTTCTTATGCCTCTGAGACC -3'
(R):5'- AGAAATTACGCCTGTCATTGTCCCG -3'
Sequencing Primer
(F):5'- GCCTCTGAGACCTCTCTGATAAG -3'
(R):5'- CGGTGGGCTCTGACAGTG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation