Incidental Mutation 'R9374:Tcaf2'
ID |
709489 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tcaf2
|
Ensembl Gene |
ENSMUSG00000029851 |
Gene Name |
TRPM8 channel-associated factor 2 |
Synonyms |
Fam115c |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R9374 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
42599950-42622134 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 42619728 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 100
(A100T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031879
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031879]
|
AlphaFold |
Q921K8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031879
AA Change: A100T
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000031879 Gene: ENSMUSG00000029851 AA Change: A100T
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: 99.4%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(1) : Targeted(1)
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap21 |
A |
T |
2: 20,886,397 (GRCm39) |
V270E |
probably damaging |
Het |
Blvrb |
A |
G |
7: 27,158,786 (GRCm39) |
D62G |
probably benign |
Het |
Ccdc68 |
T |
A |
18: 70,089,113 (GRCm39) |
S219T |
probably damaging |
Het |
Celf2 |
G |
A |
2: 6,590,886 (GRCm39) |
T303I |
possibly damaging |
Het |
Cep290 |
T |
C |
10: 100,372,729 (GRCm39) |
S1176P |
probably damaging |
Het |
Cpeb2 |
C |
A |
5: 43,391,584 (GRCm39) |
S260* |
probably null |
Het |
Dscam |
A |
T |
16: 96,857,857 (GRCm39) |
I51N |
probably benign |
Het |
Erbb4 |
G |
A |
1: 68,779,642 (GRCm39) |
Q45* |
probably null |
Het |
Fam124a |
T |
G |
14: 62,843,988 (GRCm39) |
S499A |
possibly damaging |
Het |
Hipk3 |
T |
C |
2: 104,301,850 (GRCm39) |
N114S |
probably benign |
Het |
Hnrnph3 |
T |
C |
10: 62,853,957 (GRCm39) |
M54V |
probably benign |
Het |
Map7d1 |
T |
C |
4: 126,127,429 (GRCm39) |
E720G |
unknown |
Het |
Mark2 |
G |
T |
19: 7,263,263 (GRCm39) |
T201N |
possibly damaging |
Het |
Mef2c |
A |
G |
13: 83,810,461 (GRCm39) |
N371S |
probably benign |
Het |
Mgst3 |
T |
C |
1: 167,205,871 (GRCm39) |
Y36C |
probably damaging |
Het |
Mtor |
C |
T |
4: 148,599,397 (GRCm39) |
R1482C |
probably damaging |
Het |
Ndst1 |
G |
T |
18: 60,845,931 (GRCm39) |
T126K |
probably damaging |
Het |
Nkain3 |
C |
A |
4: 20,778,431 (GRCm39) |
|
probably benign |
Het |
Obscn |
T |
C |
11: 58,922,787 (GRCm39) |
I5850V |
possibly damaging |
Het |
Or11g1 |
C |
T |
14: 50,651,625 (GRCm39) |
S208F |
probably benign |
Het |
Or5d14 |
C |
T |
2: 87,880,509 (GRCm39) |
W153* |
probably null |
Het |
Or6k4 |
A |
T |
1: 173,964,885 (GRCm39) |
T192S |
probably benign |
Het |
Pbx1 |
T |
C |
1: 168,258,910 (GRCm39) |
D55G |
possibly damaging |
Het |
Pi4ka |
T |
C |
16: 17,125,574 (GRCm39) |
E1187G |
|
Het |
Pkn1 |
A |
T |
8: 84,404,367 (GRCm39) |
N543K |
probably benign |
Het |
Plin1 |
T |
C |
7: 79,372,544 (GRCm39) |
N343D |
probably benign |
Het |
Prpf4 |
T |
C |
4: 62,336,131 (GRCm39) |
V286A |
probably benign |
Het |
Pyroxd2 |
A |
G |
19: 42,719,756 (GRCm39) |
|
probably null |
Het |
Rbpms |
A |
G |
8: 34,294,173 (GRCm39) |
F190S |
possibly damaging |
Het |
Rpl10a |
T |
A |
17: 28,548,006 (GRCm39) |
F49Y |
possibly damaging |
Het |
Slc32a1 |
A |
G |
2: 158,455,995 (GRCm39) |
T217A |
probably damaging |
Het |
Slco6c1 |
T |
C |
1: 97,055,827 (GRCm39) |
S25G |
probably benign |
Het |
Slitrk5 |
C |
T |
14: 111,916,496 (GRCm39) |
T40I |
probably benign |
Het |
Smchd1 |
T |
C |
17: 71,718,843 (GRCm39) |
N842S |
possibly damaging |
Het |
Sorbs1 |
G |
A |
19: 40,361,923 (GRCm39) |
R154* |
probably null |
Het |
Stc2 |
A |
G |
11: 31,310,332 (GRCm39) |
S235P |
probably benign |
Het |
Tcerg1l |
T |
C |
7: 137,995,998 (GRCm39) |
D170G |
possibly damaging |
Het |
Tcf15 |
T |
C |
2: 151,986,039 (GRCm39) |
L165P |
probably damaging |
Het |
Tle5 |
T |
C |
10: 81,399,988 (GRCm39) |
V62A |
probably damaging |
Het |
Tmem200c |
G |
T |
17: 69,148,682 (GRCm39) |
G422W |
probably damaging |
Het |
Tnfsf13b |
A |
G |
8: 10,085,391 (GRCm39) |
I294V |
possibly damaging |
Het |
Tns3 |
T |
A |
11: 8,442,606 (GRCm39) |
T586S |
probably damaging |
Het |
Unc80 |
A |
T |
1: 66,629,460 (GRCm39) |
E1319V |
possibly damaging |
Het |
Vegfc |
A |
G |
8: 54,622,180 (GRCm39) |
I221V |
possibly damaging |
Het |
Vmn1r86 |
A |
T |
7: 12,836,781 (GRCm39) |
Y32N |
possibly damaging |
Het |
Vmn2r111 |
T |
A |
17: 22,787,859 (GRCm39) |
L497F |
probably benign |
Het |
Wdr49 |
T |
C |
3: 75,230,931 (GRCm39) |
D577G |
probably benign |
Het |
Xpo4 |
A |
G |
14: 57,828,512 (GRCm39) |
F783L |
possibly 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 |
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 |
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 |
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'- TGTCACTGCCATGCTGACTG -3'
(R):5'- TTATTGGGGAGGCAGCCTTC -3'
Sequencing Primer
(F):5'- ATGCTGACTGGCCCAATTC -3'
(R):5'- CCTTCCCAGTGATGGTGAATGAC -3'
|
Posted On |
2022-04-18 |