Incidental Mutation 'R5031:Tcaf3'
ID |
391687 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tcaf3
|
Ensembl Gene |
ENSMUSG00000018656 |
Gene Name |
TRPM8 channel-associated factor 3 |
Synonyms |
Eapa2, Fam115e |
MMRRC Submission |
042622-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
R5031 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
42564147-42574306 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 42573867 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 115
(V115A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064060
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069023]
[ENSMUST00000134707]
|
AlphaFold |
Q6QR59 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000069023
AA Change: V115A
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000064060 Gene: ENSMUSG00000018656 AA Change: V115A
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
26 |
194 |
9.98e-16 |
PROSPERO |
low complexity region
|
210 |
221 |
N/A |
INTRINSIC |
internal_repeat_1
|
234 |
402 |
9.98e-16 |
PROSPERO |
low complexity region
|
509 |
518 |
N/A |
INTRINSIC |
M60-like
|
533 |
832 |
3.49e-130 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134707
AA Change: V115A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000123321 Gene: ENSMUSG00000018656 AA Change: V115A
Domain | Start | End | E-Value | Type |
low complexity region
|
210 |
221 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0638 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 89.9%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,247,678 (GRCm39) |
N2475I |
probably damaging |
Het |
Acnat2 |
T |
C |
4: 49,380,631 (GRCm39) |
K231R |
probably damaging |
Het |
Ank1 |
C |
T |
8: 23,589,696 (GRCm39) |
P599L |
probably damaging |
Het |
Arhgef19 |
A |
G |
4: 140,978,121 (GRCm39) |
E580G |
probably damaging |
Het |
Atr |
A |
G |
9: 95,747,755 (GRCm39) |
K346E |
probably damaging |
Het |
AU021092 |
T |
C |
16: 5,030,468 (GRCm39) |
K309E |
probably damaging |
Het |
Baz2b |
T |
C |
2: 59,743,151 (GRCm39) |
R1607G |
probably benign |
Het |
Cct8 |
C |
T |
16: 87,284,426 (GRCm39) |
V254M |
probably damaging |
Het |
Cdca2 |
T |
A |
14: 67,950,602 (GRCm39) |
I110F |
probably damaging |
Het |
Csmd3 |
A |
T |
15: 47,522,588 (GRCm39) |
C2694S |
probably damaging |
Het |
Dmkn |
A |
G |
7: 30,463,661 (GRCm39) |
I105V |
probably benign |
Het |
Dock1 |
A |
G |
7: 134,753,975 (GRCm39) |
D1584G |
probably benign |
Het |
Epg5 |
G |
A |
18: 78,072,163 (GRCm39) |
V2392I |
probably benign |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Gsap |
G |
A |
5: 21,447,824 (GRCm39) |
S294N |
possibly damaging |
Het |
Hectd2 |
A |
G |
19: 36,577,004 (GRCm39) |
N142D |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,464,008 (GRCm39) |
C5091R |
probably damaging |
Het |
Ifitm5 |
G |
A |
7: 140,530,017 (GRCm39) |
R36* |
probably null |
Het |
Ints2 |
G |
A |
11: 86,147,026 (GRCm39) |
P40L |
probably damaging |
Het |
Irs1 |
A |
T |
1: 82,264,688 (GRCm39) |
L1176* |
probably null |
Het |
Klhl29 |
C |
T |
12: 5,141,334 (GRCm39) |
R550Q |
probably benign |
Het |
Kyat1 |
A |
G |
2: 30,078,102 (GRCm39) |
M134T |
probably damaging |
Het |
Lrrk2 |
A |
T |
15: 91,584,822 (GRCm39) |
N384Y |
possibly damaging |
Het |
Magel2 |
T |
C |
7: 62,029,852 (GRCm39) |
S919P |
unknown |
Het |
Mettl16 |
A |
T |
11: 74,693,825 (GRCm39) |
I279F |
probably benign |
Het |
Mmut |
T |
C |
17: 41,249,718 (GRCm39) |
F231S |
possibly damaging |
Het |
Mrgpra1 |
A |
T |
7: 46,984,985 (GRCm39) |
Y231* |
probably null |
Het |
Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
Mvp |
A |
C |
7: 126,592,788 (GRCm39) |
Y374* |
probably null |
Het |
Nabp2 |
G |
A |
10: 128,245,497 (GRCm39) |
|
probably benign |
Het |
Nos1 |
C |
T |
5: 118,017,378 (GRCm39) |
P247L |
probably benign |
Het |
Or10ag53 |
C |
A |
2: 87,082,426 (GRCm39) |
F48L |
probably benign |
Het |
Or9g4b |
T |
A |
2: 85,616,062 (GRCm39) |
L69* |
probably null |
Het |
Pik3cb |
C |
T |
9: 98,953,461 (GRCm39) |
D441N |
probably damaging |
Het |
Qrich1 |
C |
T |
9: 108,418,935 (GRCm39) |
P464S |
possibly damaging |
Het |
Rab17 |
A |
T |
1: 90,887,860 (GRCm39) |
|
probably null |
Het |
Relch |
A |
G |
1: 105,592,239 (GRCm39) |
N136S |
probably damaging |
Het |
Rspo3 |
A |
T |
10: 29,382,443 (GRCm39) |
L77H |
probably damaging |
Het |
Spn |
G |
T |
7: 126,736,402 (GRCm39) |
T35K |
probably benign |
Het |
Sult1d1 |
T |
A |
5: 87,707,703 (GRCm39) |
Y139F |
possibly damaging |
Het |
Tbc1d32 |
C |
A |
10: 55,999,627 (GRCm39) |
Q848H |
probably damaging |
Het |
Tram1l1 |
T |
A |
3: 124,115,293 (GRCm39) |
L151* |
probably null |
Het |
Trappc12 |
T |
A |
12: 28,742,512 (GRCm39) |
I682L |
possibly damaging |
Het |
Trav6d-4 |
A |
C |
14: 52,991,056 (GRCm39) |
T31P |
probably damaging |
Het |
Trpm8 |
A |
G |
1: 88,275,910 (GRCm39) |
T503A |
probably benign |
Het |
Virma |
T |
A |
4: 11,542,116 (GRCm39) |
Y1567* |
probably null |
Het |
Vmn1r228 |
T |
A |
17: 20,996,943 (GRCm39) |
K192* |
probably null |
Het |
Zfp521 |
T |
A |
18: 13,977,330 (GRCm39) |
T1028S |
possibly damaging |
Het |
Zfp583 |
T |
A |
7: 6,320,397 (GRCm39) |
Q205L |
probably benign |
Het |
|
Other mutations in Tcaf3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00162:Tcaf3
|
APN |
6 |
42,570,319 (GRCm39) |
missense |
probably benign |
0.14 |
IGL00931:Tcaf3
|
APN |
6 |
42,574,162 (GRCm39) |
missense |
probably benign |
0.16 |
IGL01391:Tcaf3
|
APN |
6 |
42,570,615 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01804:Tcaf3
|
APN |
6 |
42,574,063 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02272:Tcaf3
|
APN |
6 |
42,573,594 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02934:Tcaf3
|
APN |
6 |
42,570,832 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03258:Tcaf3
|
APN |
6 |
42,566,773 (GRCm39) |
missense |
probably damaging |
1.00 |
defused
|
UTSW |
6 |
42,573,867 (GRCm39) |
missense |
probably benign |
0.03 |
R0116:Tcaf3
|
UTSW |
6 |
42,568,284 (GRCm39) |
missense |
probably benign |
0.12 |
R0135:Tcaf3
|
UTSW |
6 |
42,566,692 (GRCm39) |
missense |
probably benign |
|
R0357:Tcaf3
|
UTSW |
6 |
42,566,761 (GRCm39) |
missense |
probably damaging |
0.98 |
R0526:Tcaf3
|
UTSW |
6 |
42,566,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R0592:Tcaf3
|
UTSW |
6 |
42,573,777 (GRCm39) |
missense |
probably benign |
0.16 |
R1185:Tcaf3
|
UTSW |
6 |
42,568,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R1185:Tcaf3
|
UTSW |
6 |
42,568,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R1185:Tcaf3
|
UTSW |
6 |
42,568,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R1902:Tcaf3
|
UTSW |
6 |
42,570,486 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1912:Tcaf3
|
UTSW |
6 |
42,573,622 (GRCm39) |
missense |
possibly damaging |
0.59 |
R2020:Tcaf3
|
UTSW |
6 |
42,570,658 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2238:Tcaf3
|
UTSW |
6 |
42,570,262 (GRCm39) |
missense |
probably benign |
0.00 |
R2259:Tcaf3
|
UTSW |
6 |
42,568,364 (GRCm39) |
missense |
possibly damaging |
0.53 |
R2436:Tcaf3
|
UTSW |
6 |
42,570,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R3005:Tcaf3
|
UTSW |
6 |
42,570,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R3402:Tcaf3
|
UTSW |
6 |
42,570,787 (GRCm39) |
missense |
probably benign |
0.08 |
R3753:Tcaf3
|
UTSW |
6 |
42,566,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R3799:Tcaf3
|
UTSW |
6 |
42,574,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R4515:Tcaf3
|
UTSW |
6 |
42,566,930 (GRCm39) |
missense |
probably damaging |
1.00 |
R4640:Tcaf3
|
UTSW |
6 |
42,564,513 (GRCm39) |
missense |
probably damaging |
0.96 |
R4688:Tcaf3
|
UTSW |
6 |
42,570,300 (GRCm39) |
splice site |
probably null |
|
R4904:Tcaf3
|
UTSW |
6 |
42,570,931 (GRCm39) |
nonsense |
probably null |
|
R5030:Tcaf3
|
UTSW |
6 |
42,573,867 (GRCm39) |
missense |
probably benign |
0.03 |
R5045:Tcaf3
|
UTSW |
6 |
42,570,618 (GRCm39) |
missense |
possibly damaging |
0.55 |
R5105:Tcaf3
|
UTSW |
6 |
42,568,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R5139:Tcaf3
|
UTSW |
6 |
42,573,867 (GRCm39) |
missense |
probably benign |
0.03 |
R5187:Tcaf3
|
UTSW |
6 |
42,573,954 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5196:Tcaf3
|
UTSW |
6 |
42,570,649 (GRCm39) |
missense |
probably benign |
0.00 |
R5213:Tcaf3
|
UTSW |
6 |
42,568,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R5296:Tcaf3
|
UTSW |
6 |
42,564,444 (GRCm39) |
missense |
possibly damaging |
0.55 |
R5402:Tcaf3
|
UTSW |
6 |
42,568,860 (GRCm39) |
missense |
probably benign |
0.12 |
R5425:Tcaf3
|
UTSW |
6 |
42,573,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R5431:Tcaf3
|
UTSW |
6 |
42,574,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R5601:Tcaf3
|
UTSW |
6 |
42,564,462 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5839:Tcaf3
|
UTSW |
6 |
42,570,783 (GRCm39) |
missense |
possibly damaging |
0.55 |
R5865:Tcaf3
|
UTSW |
6 |
42,573,631 (GRCm39) |
missense |
probably benign |
0.07 |
R6005:Tcaf3
|
UTSW |
6 |
42,566,905 (GRCm39) |
missense |
probably benign |
0.19 |
R6270:Tcaf3
|
UTSW |
6 |
42,570,725 (GRCm39) |
missense |
probably benign |
0.00 |
R6341:Tcaf3
|
UTSW |
6 |
42,574,193 (GRCm39) |
missense |
possibly damaging |
0.55 |
R6344:Tcaf3
|
UTSW |
6 |
42,574,105 (GRCm39) |
missense |
possibly damaging |
0.48 |
R6521:Tcaf3
|
UTSW |
6 |
42,570,172 (GRCm39) |
missense |
probably damaging |
0.99 |
R6589:Tcaf3
|
UTSW |
6 |
42,570,995 (GRCm39) |
missense |
possibly damaging |
0.55 |
R6981:Tcaf3
|
UTSW |
6 |
42,574,059 (GRCm39) |
missense |
probably damaging |
1.00 |
R7155:Tcaf3
|
UTSW |
6 |
42,570,825 (GRCm39) |
missense |
probably benign |
|
R7185:Tcaf3
|
UTSW |
6 |
42,570,864 (GRCm39) |
missense |
probably benign |
0.01 |
R7262:Tcaf3
|
UTSW |
6 |
42,570,735 (GRCm39) |
missense |
probably damaging |
0.97 |
R7340:Tcaf3
|
UTSW |
6 |
42,566,848 (GRCm39) |
missense |
probably benign |
0.08 |
R7421:Tcaf3
|
UTSW |
6 |
42,573,776 (GRCm39) |
missense |
probably benign |
0.02 |
R7690:Tcaf3
|
UTSW |
6 |
42,574,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R7850:Tcaf3
|
UTSW |
6 |
42,571,140 (GRCm39) |
splice site |
probably null |
|
R7909:Tcaf3
|
UTSW |
6 |
42,568,898 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9419:Tcaf3
|
UTSW |
6 |
42,573,716 (GRCm39) |
missense |
probably benign |
0.00 |
R9440:Tcaf3
|
UTSW |
6 |
42,573,906 (GRCm39) |
nonsense |
probably null |
|
R9469:Tcaf3
|
UTSW |
6 |
42,573,828 (GRCm39) |
missense |
probably benign |
0.00 |
R9668:Tcaf3
|
UTSW |
6 |
42,566,636 (GRCm39) |
missense |
probably damaging |
1.00 |
R9787:Tcaf3
|
UTSW |
6 |
42,574,024 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGAAATATACTCCAGCCACACTTG -3'
(R):5'- TGCCTCTTCCTATGGACAAGG -3'
Sequencing Primer
(F):5'- AGCCACACTTGTCACCTGG -3'
(R):5'- TTCCTATGGACAAGGCCGCC -3'
|
Posted On |
2016-06-06 |