Incidental Mutation 'IGL01448:Tcaf2'
| ID |
84506 |
| 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 |
Ncbi RefSeq: NM_146174.1; MGI:2385258
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
IGL01448
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
42623016-42645254 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 42630328 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 231
(T231A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031879]
|
| AlphaFold |
Q921K8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031879
AA Change: T231A
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000031879
Gene: ENSMUSG00000029851
AA Change: T231A
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020A23Rik |
A |
T |
2: 130,405,847 |
E75D |
possibly damaging |
Het |
| 1700084J12Rik |
A |
G |
15: 33,405,633 |
|
probably benign |
Het |
| 2610303G11Rik |
T |
A |
9: 98,186,709 |
|
noncoding transcript |
Het |
| 4931414P19Rik |
T |
C |
14: 54,585,960 |
D320G |
possibly damaging |
Het |
| Adamts6 |
G |
A |
13: 104,297,164 |
E34K |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,677,899 |
N3142K |
possibly damaging |
Het |
| Anapc7 |
G |
A |
5: 122,428,213 |
A62T |
probably damaging |
Het |
| Atp8b3 |
G |
A |
10: 80,520,422 |
P1152L |
probably benign |
Het |
| Cc2d2a |
C |
T |
5: 43,684,185 |
T181I |
possibly damaging |
Het |
| Celsr2 |
A |
G |
3: 108,393,239 |
L2835P |
probably damaging |
Het |
| Ctns |
A |
T |
11: 73,188,722 |
V99D |
possibly damaging |
Het |
| Dchs1 |
T |
C |
7: 105,771,927 |
R429G |
probably damaging |
Het |
| Ddx11 |
T |
C |
17: 66,134,137 |
V218A |
probably damaging |
Het |
| Eftud2 |
G |
A |
11: 102,865,563 |
|
probably benign |
Het |
| Erich1 |
G |
T |
8: 14,078,853 |
T29N |
possibly damaging |
Het |
| Exosc8 |
T |
C |
3: 54,729,265 |
E215G |
probably damaging |
Het |
| Fam184a |
G |
T |
10: 53,698,949 |
A188E |
probably benign |
Het |
| Fign |
A |
G |
2: 63,979,688 |
S413P |
probably damaging |
Het |
| Fkbp6 |
A |
G |
5: 135,349,696 |
S33P |
probably damaging |
Het |
| Glb1 |
A |
G |
9: 114,450,677 |
|
probably benign |
Het |
| H2-Q1 |
T |
C |
17: 35,323,461 |
|
probably benign |
Het |
| Helz2 |
T |
C |
2: 181,233,977 |
T1575A |
probably damaging |
Het |
| Il18r1 |
A |
G |
1: 40,474,730 |
E32G |
probably damaging |
Het |
| Ints5 |
C |
T |
19: 8,895,487 |
P270L |
possibly damaging |
Het |
| Itga7 |
G |
T |
10: 128,949,468 |
E847* |
probably null |
Het |
| Kcns3 |
A |
C |
12: 11,091,643 |
S352A |
possibly damaging |
Het |
| Kiz |
A |
G |
2: 146,863,801 |
K94E |
probably benign |
Het |
| Lin7b |
C |
T |
7: 45,369,200 |
V12M |
probably damaging |
Het |
| Myo18b |
A |
T |
5: 112,811,704 |
I1409N |
probably damaging |
Het |
| Myo5b |
A |
G |
18: 74,644,090 |
H407R |
probably damaging |
Het |
| Nelfa |
T |
C |
5: 33,898,802 |
T506A |
probably damaging |
Het |
| Olfr497 |
T |
A |
7: 108,423,028 |
Y152* |
probably null |
Het |
| Olfr763 |
A |
G |
10: 129,011,860 |
T192A |
probably damaging |
Het |
| Olfr816 |
A |
G |
10: 129,912,245 |
I11T |
possibly damaging |
Het |
| Olfr984 |
A |
T |
9: 40,101,082 |
M136K |
probably damaging |
Het |
| Pclo |
A |
C |
5: 14,676,394 |
|
probably benign |
Het |
| Pes1 |
G |
A |
11: 3,977,979 |
E544K |
possibly damaging |
Het |
| Rabgap1l |
A |
G |
1: 160,740,745 |
|
probably benign |
Het |
| Rapgef2 |
T |
C |
3: 79,068,937 |
M1521V |
probably benign |
Het |
| Rapgef2 |
C |
T |
3: 79,103,962 |
|
probably null |
Het |
| Reln |
A |
G |
5: 22,040,405 |
V735A |
probably benign |
Het |
| Slc2a4 |
A |
G |
11: 69,945,076 |
S316P |
possibly damaging |
Het |
| Smarce1 |
C |
T |
11: 99,210,187 |
G373E |
possibly damaging |
Het |
| Spata31d1a |
T |
A |
13: 59,701,559 |
R918S |
probably benign |
Het |
| St3gal4 |
T |
C |
9: 35,052,331 |
K227R |
probably benign |
Het |
| Stra6l |
T |
A |
4: 45,864,864 |
|
probably null |
Het |
| Stxbp5l |
T |
C |
16: 37,215,979 |
I425V |
probably damaging |
Het |
| Tiparp |
G |
T |
3: 65,552,609 |
G442* |
probably null |
Het |
| Tnks |
A |
G |
8: 34,839,982 |
Y1138H |
probably damaging |
Het |
| Vezt |
T |
A |
10: 93,996,857 |
I231F |
probably damaging |
Het |
| Vmn2r4 |
A |
T |
3: 64,406,395 |
N388K |
probably damaging |
Het |
| Zbed3 |
A |
G |
13: 95,336,634 |
K189E |
possibly damaging |
Het |
| Zfp512b |
T |
C |
2: 181,587,785 |
T625A |
possibly damaging |
Het |
| Zfp827 |
A |
T |
8: 79,060,733 |
Q176L |
possibly damaging |
Het |
|
| Other mutations in Tcaf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00333:Tcaf2
|
APN |
6 |
42,630,036 (GRCm38) |
nonsense |
probably null |
|
|
IGL00909:Tcaf2
|
APN |
6 |
42,624,576 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01870:Tcaf2
|
APN |
6 |
42,624,477 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
IGL02133:Tcaf2
|
APN |
6 |
42,627,396 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL02208:Tcaf2
|
APN |
6 |
42,629,086 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02666:Tcaf2
|
APN |
6 |
42,629,124 (GRCm38) |
splice site |
probably benign |
|
|
jiaozhi
|
UTSW |
6 |
42,626,437 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4260001:Tcaf2
|
UTSW |
6 |
42,642,805 (GRCm38) |
missense |
probably damaging |
0.97 |
|
PIT4382001:Tcaf2
|
UTSW |
6 |
42,624,366 (GRCm38) |
makesense |
probably null |
|
|
R0029:Tcaf2
|
UTSW |
6 |
42,630,159 (GRCm38) |
nonsense |
probably null |
|
|
R0029:Tcaf2
|
UTSW |
6 |
42,630,159 (GRCm38) |
nonsense |
probably null |
|
|
R0047:Tcaf2
|
UTSW |
6 |
42,629,613 (GRCm38) |
missense |
probably benign |
|
|
R0047:Tcaf2
|
UTSW |
6 |
42,629,613 (GRCm38) |
missense |
probably benign |
|
|
R0255:Tcaf2
|
UTSW |
6 |
42,642,904 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0617:Tcaf2
|
UTSW |
6 |
42,642,511 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1387:Tcaf2
|
UTSW |
6 |
42,624,578 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1523:Tcaf2
|
UTSW |
6 |
42,624,451 (GRCm38) |
nonsense |
probably null |
|
|
R1529:Tcaf2
|
UTSW |
6 |
42,629,506 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1698:Tcaf2
|
UTSW |
6 |
42,628,017 (GRCm38) |
nonsense |
probably null |
|
|
R1992:Tcaf2
|
UTSW |
6 |
42,629,857 (GRCm38) |
missense |
probably benign |
|
|
R2065:Tcaf2
|
UTSW |
6 |
42,628,047 (GRCm38) |
missense |
probably benign |
0.12 |
|
R2144:Tcaf2
|
UTSW |
6 |
42,642,804 (GRCm38) |
missense |
probably benign |
0.45 |
|
R2435:Tcaf2
|
UTSW |
6 |
42,630,364 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R2519:Tcaf2
|
UTSW |
6 |
42,629,431 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R3979:Tcaf2
|
UTSW |
6 |
42,642,547 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4093:Tcaf2
|
UTSW |
6 |
42,642,838 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4532:Tcaf2
|
UTSW |
6 |
42,626,437 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4780:Tcaf2
|
UTSW |
6 |
42,628,062 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4906:Tcaf2
|
UTSW |
6 |
42,629,745 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4993:Tcaf2
|
UTSW |
6 |
42,642,640 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5076:Tcaf2
|
UTSW |
6 |
42,629,467 (GRCm38) |
missense |
probably benign |
0.16 |
|
R5643:Tcaf2
|
UTSW |
6 |
42,642,773 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R5644:Tcaf2
|
UTSW |
6 |
42,642,773 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R5975:Tcaf2
|
UTSW |
6 |
42,642,778 (GRCm38) |
missense |
probably benign |
0.22 |
|
R6234:Tcaf2
|
UTSW |
6 |
42,630,374 (GRCm38) |
missense |
probably benign |
|
|
R6269:Tcaf2
|
UTSW |
6 |
42,627,408 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6276:Tcaf2
|
UTSW |
6 |
42,629,753 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6375:Tcaf2
|
UTSW |
6 |
42,626,178 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6523:Tcaf2
|
UTSW |
6 |
42,643,019 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6825:Tcaf2
|
UTSW |
6 |
42,629,518 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7039:Tcaf2
|
UTSW |
6 |
42,626,140 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7099:Tcaf2
|
UTSW |
6 |
42,630,341 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7284:Tcaf2
|
UTSW |
6 |
42,629,538 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7822:Tcaf2
|
UTSW |
6 |
42,629,099 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7964:Tcaf2
|
UTSW |
6 |
42,629,706 (GRCm38) |
missense |
probably benign |
|
|
R8270:Tcaf2
|
UTSW |
6 |
42,630,024 (GRCm38) |
missense |
probably benign |
0.30 |
|
R8505:Tcaf2
|
UTSW |
6 |
42,629,541 (GRCm38) |
missense |
probably benign |
0.18 |
|
R8702:Tcaf2
|
UTSW |
6 |
42,642,767 (GRCm38) |
missense |
probably benign |
0.11 |
|
R8788:Tcaf2
|
UTSW |
6 |
42,629,538 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8979:Tcaf2
|
UTSW |
6 |
42,624,470 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9374:Tcaf2
|
UTSW |
6 |
42,642,794 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9379:Tcaf2
|
UTSW |
6 |
42,642,583 (GRCm38) |
missense |
probably benign |
0.00 |
|
Y4339:Tcaf2
|
UTSW |
6 |
42,629,472 (GRCm38) |
missense |
probably benign |
|
|
Y4341:Tcaf2
|
UTSW |
6 |
42,629,472 (GRCm38) |
missense |
probably benign |
|
|
Z1177:Tcaf2
|
UTSW |
6 |
42,629,616 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-11 |
Incidental Mutation