Incidental Mutation 'R4532:Tcaf2'
| ID |
333143 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcaf2
|
| Ensembl Gene |
ENSMUSG00000029851 |
| Gene Name |
TRPM8 channel-associated factor 2 |
| Synonyms |
Fam115c |
| MMRRC Submission |
041772-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R4532 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
42599950-42622134 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 42603371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Aspartic acid
at position 730
(Y730D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031879]
|
| AlphaFold |
Q921K8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031879
AA Change: Y730D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031879
Gene: ENSMUSG00000029851
AA Change: Y730D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
515 |
526 |
N/A |
INTRINSIC |
|
M60-like
|
543 |
842 |
4.85e-138 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131341
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
All alleles(1) : Targeted(1)
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
T |
A |
5: 4,093,948 (GRCm39) |
F2157I |
probably damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,955,101 (GRCm39) |
E647G |
possibly damaging |
Het |
| Ap3b1 |
A |
G |
13: 94,702,243 (GRCm39) |
K1099E |
unknown |
Het |
| Arhgap42 |
T |
C |
9: 9,011,433 (GRCm39) |
D451G |
probably damaging |
Het |
| Cd19 |
C |
T |
7: 126,011,281 (GRCm39) |
C301Y |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,370,202 (GRCm39) |
T198A |
probably benign |
Het |
| Cdt1 |
T |
C |
8: 123,298,495 (GRCm39) |
S407P |
probably benign |
Het |
| Cyp26c1 |
A |
G |
19: 37,674,227 (GRCm39) |
T34A |
probably damaging |
Het |
| Dbh |
C |
A |
2: 27,067,343 (GRCm39) |
H409Q |
possibly damaging |
Het |
| Eif5 |
T |
A |
12: 111,506,318 (GRCm39) |
C52* |
probably null |
Het |
| Fhod3 |
A |
G |
18: 25,243,278 (GRCm39) |
Y1212C |
probably damaging |
Het |
| Ggh |
T |
A |
4: 20,046,225 (GRCm39) |
F44L |
probably benign |
Het |
| Gm12185 |
T |
C |
11: 48,798,747 (GRCm39) |
Y582C |
probably damaging |
Het |
| Gm12185 |
T |
C |
11: 48,798,921 (GRCm39) |
N524S |
possibly damaging |
Het |
| Gm21095 |
A |
G |
Y: 84,131,953 (GRCm39) |
N149S |
probably damaging |
Het |
| Gys2 |
T |
A |
6: 142,400,867 (GRCm39) |
H311L |
probably damaging |
Het |
| Hcn4 |
C |
T |
9: 58,765,081 (GRCm39) |
R558C |
unknown |
Het |
| Heatr6 |
T |
C |
11: 83,660,498 (GRCm39) |
L546P |
probably damaging |
Het |
| Lin54 |
G |
A |
5: 100,594,419 (GRCm39) |
T582I |
possibly damaging |
Het |
| Lpin1 |
C |
T |
12: 16,603,963 (GRCm39) |
G623S |
probably benign |
Het |
| Lrfn2 |
A |
G |
17: 49,377,564 (GRCm39) |
D215G |
probably damaging |
Het |
| Lrrc3c |
C |
A |
11: 98,489,859 (GRCm39) |
S72* |
probably null |
Het |
| Me3 |
G |
A |
7: 89,282,108 (GRCm39) |
|
probably benign |
Het |
| Msln |
A |
G |
17: 25,969,698 (GRCm39) |
I344T |
probably damaging |
Het |
| Oma1 |
G |
A |
4: 103,176,571 (GRCm39) |
V112I |
probably benign |
Het |
| Or5al6 |
A |
T |
2: 85,976,274 (GRCm39) |
L268Q |
possibly damaging |
Het |
| Or5p4 |
T |
C |
7: 107,680,756 (GRCm39) |
Y252H |
probably benign |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Pdgfra |
A |
G |
5: 75,341,744 (GRCm39) |
N659S |
probably damaging |
Het |
| Rmnd5a |
A |
T |
6: 71,376,109 (GRCm39) |
|
probably null |
Het |
| Slc12a8 |
C |
A |
16: 33,371,403 (GRCm39) |
R180S |
probably damaging |
Het |
| Slc6a15 |
G |
A |
10: 103,245,648 (GRCm39) |
V544M |
possibly damaging |
Het |
| Slco5a1 |
T |
A |
1: 12,949,447 (GRCm39) |
T648S |
probably damaging |
Het |
| Snx13 |
T |
C |
12: 35,194,219 (GRCm39) |
F921L |
probably damaging |
Het |
| Stard6 |
A |
C |
18: 70,616,605 (GRCm39) |
D88A |
probably damaging |
Het |
| Svep1 |
G |
T |
4: 58,068,886 (GRCm39) |
H2967N |
possibly damaging |
Het |
| Tes |
G |
A |
6: 17,097,407 (GRCm39) |
V172M |
possibly damaging |
Het |
| Ttc3 |
T |
A |
16: 94,267,736 (GRCm39) |
|
probably benign |
Het |
| Vmn1r23 |
A |
G |
6: 57,902,914 (GRCm39) |
I288T |
probably benign |
Het |
| Vmn1r38 |
G |
T |
6: 66,754,016 (GRCm39) |
H33Q |
probably benign |
Het |
| Vmn2r75 |
G |
T |
7: 85,797,349 (GRCm39) |
C821* |
probably null |
Het |
| Zfp282 |
C |
T |
6: 47,867,567 (GRCm39) |
P248S |
probably benign |
Het |
| Zfp655 |
T |
A |
5: 145,181,507 (GRCm39) |
I455N |
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 |
|
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 |
|
R8788:Tcaf2
|
UTSW |
6 |
42,606,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GGACGGTCTCATGAACATAGACTG -3'
(R):5'- AAGGCCAAAGCTCAGTTGGG -3'
Sequencing Primer
(F):5'- GGTCTCATGAACATAGACTGACCAG -3'
(R):5'- CCAAAGCTCAGTTGGGAGAATCTG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation