Incidental Mutation 'R0706:Tcam1'
| ID |
63142 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcam1
|
| Ensembl Gene |
ENSMUSG00000020712 |
| Gene Name |
testicular cell adhesion molecule 1 |
| Synonyms |
4930570F09Rik |
| MMRRC Submission |
038889-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0706 (G1)
|
| Quality Score |
129 |
|
Status
|
Not 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: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 92.0%
|
| Validation Efficiency |
|
| 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: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef15 |
C |
T |
11: 68,845,402 (GRCm39) |
R150H |
probably damaging |
Het |
| Btnl2 |
T |
A |
17: 34,587,636 (GRCm39) |
N493K |
probably benign |
Het |
| Ccdc175 |
G |
A |
12: 72,186,722 (GRCm39) |
T374I |
probably benign |
Het |
| Dock4 |
A |
G |
12: 40,752,922 (GRCm39) |
S419G |
probably damaging |
Het |
| Ireb2 |
A |
G |
9: 54,799,770 (GRCm39) |
T404A |
probably benign |
Het |
| Klk1b5 |
C |
T |
7: 43,867,938 (GRCm39) |
P37S |
probably damaging |
Het |
| Lrrc32 |
C |
T |
7: 98,148,917 (GRCm39) |
R566W |
probably damaging |
Het |
| Med12l |
A |
G |
3: 59,169,401 (GRCm39) |
N1597S |
probably damaging |
Het |
| Mrpl50 |
T |
C |
4: 49,514,198 (GRCm39) |
S158G |
probably benign |
Het |
| Mycbpap |
G |
T |
11: 94,404,612 (GRCm39) |
Y110* |
probably null |
Het |
| Nphp4 |
G |
A |
4: 152,640,074 (GRCm39) |
A987T |
probably damaging |
Het |
| Reln |
C |
T |
5: 22,101,809 (GRCm39) |
V3374I |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Sis |
T |
C |
3: 72,859,864 (GRCm39) |
Q297R |
probably damaging |
Het |
| Tprn |
A |
G |
2: 25,154,503 (GRCm39) |
I602V |
probably damaging |
Het |
| Xpo1 |
T |
A |
11: 23,230,441 (GRCm39) |
V276E |
probably benign |
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 |
|
R0378: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 |
|
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 |
2013-07-30 |
Incidental Mutation