Incidental Mutation 'R8788:Tcaf2'
| ID |
670750 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcaf2
|
| Ensembl Gene |
ENSMUSG00000029851 |
| Gene Name |
TRPM8 channel-associated factor 2 |
| Synonyms |
Fam115c |
| MMRRC Submission |
068607-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R8788 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
42599950-42622134 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42606472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 494
(L494P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031879]
|
| AlphaFold |
Q921K8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031879
AA Change: L494P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031879
Gene: ENSMUSG00000029851
AA Change: L494P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
515 |
526 |
N/A |
INTRINSIC |
|
M60-like
|
543 |
842 |
4.85e-138 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
All alleles(1) : Targeted(1)
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
A |
T |
10: 69,718,256 (GRCm39) |
L502F |
unknown |
Het |
| Btbd8 |
A |
G |
5: 107,618,853 (GRCm39) |
*252W |
probably null |
Het |
| Btnl9 |
T |
A |
11: 49,066,614 (GRCm39) |
M336L |
probably benign |
Het |
| Cd72 |
T |
C |
4: 43,450,185 (GRCm39) |
E241G |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,324,372 (GRCm39) |
N296I |
probably damaging |
Het |
| Celf6 |
C |
A |
9: 59,485,750 (GRCm39) |
S30R |
possibly damaging |
Het |
| Crxos |
T |
C |
7: 15,632,499 (GRCm39) |
Y102H |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,470,513 (GRCm39) |
S2477T |
|
Het |
| Evi2a |
T |
A |
11: 79,418,531 (GRCm39) |
R26S |
probably benign |
Het |
| Ezr |
T |
C |
17: 7,021,392 (GRCm39) |
M182V |
probably benign |
Het |
| Fat2 |
G |
T |
11: 55,171,929 (GRCm39) |
A2928D |
possibly damaging |
Het |
| Fetub |
A |
T |
16: 22,758,182 (GRCm39) |
K322* |
probably null |
Het |
| Fscb |
T |
C |
12: 64,518,395 (GRCm39) |
T1024A |
unknown |
Het |
| Gdpd1 |
A |
G |
11: 86,950,318 (GRCm39) |
V85A |
probably damaging |
Het |
| Gm38119 |
G |
T |
3: 92,645,537 (GRCm39) |
P19H |
unknown |
Het |
| Gpr182 |
T |
C |
10: 127,586,529 (GRCm39) |
T141A |
probably benign |
Het |
| Inpp5d |
G |
A |
1: 87,611,484 (GRCm39) |
G312D |
probably damaging |
Het |
| Kif26b |
G |
A |
1: 178,357,090 (GRCm39) |
|
probably benign |
Het |
| Krtap5-1 |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
7: 141,850,333 (GRCm39) |
|
probably benign |
Het |
| Lcor |
C |
T |
19: 41,573,698 (GRCm39) |
R818W |
probably damaging |
Het |
| Maf |
T |
A |
8: 116,432,612 (GRCm39) |
I331F |
probably damaging |
Het |
| Mark3 |
C |
A |
12: 111,613,124 (GRCm39) |
S529R |
probably benign |
Het |
| Mmp10 |
A |
G |
9: 7,502,687 (GRCm39) |
|
probably benign |
Het |
| Mrps30 |
T |
C |
13: 118,523,538 (GRCm39) |
E78G |
possibly damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nhsl3 |
A |
G |
4: 129,119,743 (GRCm39) |
V97A |
probably benign |
Het |
| Or4c116 |
T |
C |
2: 88,942,626 (GRCm39) |
T77A |
probably benign |
Het |
| Pcdh12 |
G |
A |
18: 38,416,109 (GRCm39) |
L339F |
probably benign |
Het |
| Pdgfd |
A |
G |
9: 6,377,000 (GRCm39) |
S365G |
probably benign |
Het |
| Piezo1 |
T |
C |
8: 123,228,533 (GRCm39) |
M281V |
|
Het |
| Prkg2 |
C |
T |
5: 99,117,839 (GRCm39) |
E501K |
probably damaging |
Het |
| Recql5 |
T |
C |
11: 115,786,628 (GRCm39) |
I563V |
probably benign |
Het |
| Rfx7 |
T |
C |
9: 72,524,795 (GRCm39) |
S662P |
probably benign |
Het |
| Ric8a |
A |
G |
7: 140,438,806 (GRCm39) |
T252A |
probably benign |
Het |
| Sbf1 |
C |
T |
15: 89,186,062 (GRCm39) |
R984H |
probably damaging |
Het |
| Sel1l3 |
G |
T |
5: 53,332,148 (GRCm39) |
Y412* |
probably null |
Het |
| Slc17a6 |
G |
A |
7: 51,298,908 (GRCm39) |
A224T |
probably damaging |
Het |
| Slco1a8 |
A |
T |
6: 141,933,570 (GRCm39) |
V425D |
probably benign |
Het |
| Smarca4 |
T |
C |
9: 21,550,024 (GRCm39) |
I378T |
probably damaging |
Het |
| Tatdn1 |
T |
C |
15: 58,762,543 (GRCm39) |
*265W |
probably null |
Het |
| Tcl1b2 |
T |
C |
12: 105,113,380 (GRCm39) |
L11P |
probably benign |
Het |
| Thrb |
A |
G |
14: 18,002,558 (GRCm38) |
E119G |
probably damaging |
Het |
| Tll2 |
T |
C |
19: 41,109,814 (GRCm39) |
T317A |
probably benign |
Het |
| Tob2 |
AGATGATGA |
AGATGA |
15: 81,735,928 (GRCm39) |
|
probably benign |
Het |
| Upk1b |
A |
G |
16: 38,607,463 (GRCm39) |
L88P |
probably damaging |
Het |
| Uri1 |
T |
C |
7: 37,661,003 (GRCm39) |
I30V |
|
Het |
| Ush2a |
A |
T |
1: 188,475,816 (GRCm39) |
R2918* |
probably null |
Het |
| Vax1 |
T |
C |
19: 59,158,247 (GRCm39) |
D72G |
unknown |
Het |
| Vmn2r38 |
C |
A |
7: 9,078,482 (GRCm39) |
M633I |
probably benign |
Het |
| Vmn2r95 |
A |
G |
17: 18,671,790 (GRCm39) |
D581G |
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,813,305 (GRCm39) |
F3324L |
|
Het |
| Xrcc6 |
C |
T |
15: 81,911,583 (GRCm39) |
L309F |
probably damaging |
Het |
| Xrra1 |
A |
G |
7: 99,555,761 (GRCm39) |
Y376C |
probably benign |
Het |
| Zfp329 |
T |
C |
7: 12,544,490 (GRCm39) |
T345A |
possibly damaging |
Het |
| Zfp574 |
T |
A |
7: 24,779,816 (GRCm39) |
N279K |
unknown |
Het |
| Zfp804b |
T |
C |
5: 6,822,635 (GRCm39) |
M143V |
probably benign |
Het |
|
| Other mutations in Tcaf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00333:Tcaf2
|
APN |
6 |
42,606,970 (GRCm39) |
nonsense |
probably null |
|
|
IGL00909:Tcaf2
|
APN |
6 |
42,601,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01448:Tcaf2
|
APN |
6 |
42,607,262 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01870:Tcaf2
|
APN |
6 |
42,601,411 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02133:Tcaf2
|
APN |
6 |
42,604,330 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02208:Tcaf2
|
APN |
6 |
42,606,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02666:Tcaf2
|
APN |
6 |
42,606,058 (GRCm39) |
splice site |
probably benign |
|
|
jiaozhi
|
UTSW |
6 |
42,603,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4260001:Tcaf2
|
UTSW |
6 |
42,619,739 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4382001:Tcaf2
|
UTSW |
6 |
42,601,300 (GRCm39) |
makesense |
probably null |
|
|
R0029:Tcaf2
|
UTSW |
6 |
42,607,093 (GRCm39) |
nonsense |
probably null |
|
|
R0029:Tcaf2
|
UTSW |
6 |
42,607,093 (GRCm39) |
nonsense |
probably null |
|
|
R0047:Tcaf2
|
UTSW |
6 |
42,606,547 (GRCm39) |
missense |
probably benign |
|
|
R0047:Tcaf2
|
UTSW |
6 |
42,606,547 (GRCm39) |
missense |
probably benign |
|
|
R0255:Tcaf2
|
UTSW |
6 |
42,619,838 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0617:Tcaf2
|
UTSW |
6 |
42,619,445 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1387:Tcaf2
|
UTSW |
6 |
42,601,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1523:Tcaf2
|
UTSW |
6 |
42,601,385 (GRCm39) |
nonsense |
probably null |
|
|
R1529:Tcaf2
|
UTSW |
6 |
42,606,440 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1698:Tcaf2
|
UTSW |
6 |
42,604,951 (GRCm39) |
nonsense |
probably null |
|
|
R1992:Tcaf2
|
UTSW |
6 |
42,606,791 (GRCm39) |
missense |
probably benign |
|
|
R2065:Tcaf2
|
UTSW |
6 |
42,604,981 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2144:Tcaf2
|
UTSW |
6 |
42,619,738 (GRCm39) |
missense |
probably benign |
0.45 |
|
R2435:Tcaf2
|
UTSW |
6 |
42,607,298 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2519:Tcaf2
|
UTSW |
6 |
42,606,365 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3979:Tcaf2
|
UTSW |
6 |
42,619,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4093:Tcaf2
|
UTSW |
6 |
42,619,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4532:Tcaf2
|
UTSW |
6 |
42,603,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4780:Tcaf2
|
UTSW |
6 |
42,604,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4906:Tcaf2
|
UTSW |
6 |
42,606,679 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4993:Tcaf2
|
UTSW |
6 |
42,619,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5076:Tcaf2
|
UTSW |
6 |
42,606,401 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5643:Tcaf2
|
UTSW |
6 |
42,619,707 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5644:Tcaf2
|
UTSW |
6 |
42,619,707 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5975:Tcaf2
|
UTSW |
6 |
42,619,712 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6234:Tcaf2
|
UTSW |
6 |
42,607,308 (GRCm39) |
missense |
probably benign |
|
|
R6269:Tcaf2
|
UTSW |
6 |
42,604,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6276:Tcaf2
|
UTSW |
6 |
42,606,687 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6375:Tcaf2
|
UTSW |
6 |
42,603,112 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6523:Tcaf2
|
UTSW |
6 |
42,619,953 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6825:Tcaf2
|
UTSW |
6 |
42,606,452 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7039:Tcaf2
|
UTSW |
6 |
42,603,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7099:Tcaf2
|
UTSW |
6 |
42,607,275 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7284:Tcaf2
|
UTSW |
6 |
42,606,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7822:Tcaf2
|
UTSW |
6 |
42,606,033 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7964:Tcaf2
|
UTSW |
6 |
42,606,640 (GRCm39) |
missense |
probably benign |
|
|
R8270:Tcaf2
|
UTSW |
6 |
42,606,958 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8505:Tcaf2
|
UTSW |
6 |
42,606,475 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8702:Tcaf2
|
UTSW |
6 |
42,619,701 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8979:Tcaf2
|
UTSW |
6 |
42,601,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9374:Tcaf2
|
UTSW |
6 |
42,619,728 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9379:Tcaf2
|
UTSW |
6 |
42,619,517 (GRCm39) |
missense |
probably benign |
0.00 |
|
Y4339:Tcaf2
|
UTSW |
6 |
42,606,406 (GRCm39) |
missense |
probably benign |
|
|
Y4341:Tcaf2
|
UTSW |
6 |
42,606,406 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Tcaf2
|
UTSW |
6 |
42,606,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAGAATACTCTGGGCATTCTC -3'
(R):5'- AGGGGCTCTTTCTGAGTTCC -3'
Sequencing Primer
(F):5'- CTGCTCACTCCGTACCTGGATTG -3'
(R):5'- CTGAGTTCCAAGCTATGTTGAACCAC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation