Incidental Mutation 'IGL02208:Tcaf2'
| ID |
284603 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tcaf2
|
| Ensembl Gene |
ENSMUSG00000029851 |
| Gene Name |
TRPM8 channel-associated factor 2 |
| Synonyms |
Fam115c |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
IGL02208
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
42599950-42622134 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 42606020 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 551
(Y551F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031879]
|
| AlphaFold |
Q921K8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031879
AA Change: Y551F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031879
Gene: ENSMUSG00000029851
AA Change: Y551F
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(1) : Targeted(1)
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,950,772 (GRCm39) |
Y898H |
probably damaging |
Het |
| Abr |
T |
C |
11: 76,346,471 (GRCm39) |
T484A |
probably damaging |
Het |
| Ahsg |
G |
A |
16: 22,711,060 (GRCm39) |
V66I |
possibly damaging |
Het |
| Arhgef5 |
T |
G |
6: 43,252,064 (GRCm39) |
D938E |
probably benign |
Het |
| Asap1 |
T |
A |
15: 63,993,882 (GRCm39) |
E731V |
probably damaging |
Het |
| Cdca2 |
C |
T |
14: 67,950,589 (GRCm39) |
R114Q |
probably damaging |
Het |
| Dock5 |
A |
G |
14: 68,065,899 (GRCm39) |
I368T |
probably benign |
Het |
| Dse |
T |
A |
10: 34,028,433 (GRCm39) |
M886L |
probably benign |
Het |
| Efcab11 |
A |
G |
12: 99,820,861 (GRCm39) |
|
probably benign |
Het |
| Eri2 |
G |
A |
7: 119,385,158 (GRCm39) |
P448S |
probably benign |
Het |
| Iffo1 |
A |
G |
6: 125,122,329 (GRCm39) |
D37G |
possibly damaging |
Het |
| Lrrc39 |
A |
T |
3: 116,371,923 (GRCm39) |
Q230L |
probably damaging |
Het |
| Macrod2 |
C |
A |
2: 142,216,196 (GRCm39) |
S443Y |
possibly damaging |
Het |
| Map4 |
T |
A |
9: 109,807,938 (GRCm39) |
M1K |
probably null |
Het |
| Misfa |
T |
C |
7: 46,633,572 (GRCm39) |
|
probably benign |
Het |
| Myh4 |
G |
A |
11: 67,142,760 (GRCm39) |
A974T |
possibly damaging |
Het |
| Npm3 |
T |
C |
19: 45,737,299 (GRCm39) |
T72A |
probably benign |
Het |
| Or14j1 |
T |
C |
17: 38,146,415 (GRCm39) |
F175S |
probably damaging |
Het |
| P3h4 |
T |
C |
11: 100,304,901 (GRCm39) |
N162S |
probably damaging |
Het |
| Pcnx2 |
G |
T |
8: 126,478,894 (GRCm39) |
T2118N |
probably benign |
Het |
| Pla2r1 |
G |
T |
2: 60,258,932 (GRCm39) |
P1152Q |
possibly damaging |
Het |
| Pole2 |
C |
T |
12: 69,269,936 (GRCm39) |
E63K |
possibly damaging |
Het |
| Polr3e |
T |
A |
7: 120,531,363 (GRCm39) |
F151I |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,862,313 (GRCm39) |
T326A |
probably benign |
Het |
| Prdm8 |
G |
T |
5: 98,331,324 (GRCm39) |
A59S |
possibly damaging |
Het |
| Reps1 |
A |
G |
10: 17,994,770 (GRCm39) |
N538S |
probably damaging |
Het |
| Scube1 |
T |
C |
15: 83,587,741 (GRCm39) |
D76G |
probably damaging |
Het |
| Senp6 |
T |
C |
9: 80,021,225 (GRCm39) |
F302L |
probably damaging |
Het |
| Skic2 |
A |
T |
17: 35,060,651 (GRCm39) |
I822N |
probably damaging |
Het |
| Slc17a7 |
T |
C |
7: 44,820,367 (GRCm39) |
I299T |
probably damaging |
Het |
| Slc25a26 |
T |
A |
6: 94,484,520 (GRCm39) |
V20E |
probably damaging |
Het |
| Spem2 |
T |
C |
11: 69,708,089 (GRCm39) |
|
probably null |
Het |
| Stat5b |
A |
C |
11: 100,695,739 (GRCm39) |
F81C |
probably damaging |
Het |
| Taf6 |
A |
T |
5: 138,179,169 (GRCm39) |
V423E |
probably damaging |
Het |
| Tgm6 |
A |
T |
2: 129,977,790 (GRCm39) |
D43V |
probably benign |
Het |
| Tubb3 |
G |
T |
8: 124,147,603 (GRCm39) |
V179L |
probably damaging |
Het |
| Ubr1 |
G |
A |
2: 120,776,830 (GRCm39) |
H304Y |
probably benign |
Het |
| Vmn2r56 |
T |
G |
7: 12,449,408 (GRCm39) |
M277L |
probably benign |
Het |
| Wdr72 |
G |
A |
9: 74,064,581 (GRCm39) |
V538M |
probably damaging |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation