Incidental Mutation 'PIT4260001:Tcaf2'
| ID |
554495 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcaf2
|
| Ensembl Gene |
ENSMUSG00000029851 |
| Gene Name |
TRPM8 channel-associated factor 2 |
| Synonyms |
Fam115c |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
PIT4260001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
42599950-42622134 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 42619739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 96
(H96L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031879]
|
| AlphaFold |
Q921K8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031879
AA Change: H96L
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000031879
Gene: ENSMUSG00000029851
AA Change: H96L
| 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: 92.7%
- 3x: 90.5%
- 10x: 84.8%
- 20x: 72.5%
|
| Validation Efficiency |
|
| 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 |
|---|
| Arap3 |
A |
T |
18: 38,129,948 (GRCm39) |
L71Q |
probably benign |
Het |
| Atp10a |
A |
T |
7: 58,440,866 (GRCm39) |
K504* |
probably null |
Het |
| AW551984 |
T |
C |
9: 39,504,275 (GRCm39) |
T564A |
probably benign |
Het |
| Cep128 |
A |
G |
12: 91,265,808 (GRCm39) |
V268A |
probably benign |
Het |
| Clgn |
T |
C |
8: 84,149,753 (GRCm39) |
M418T |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,558,662 (GRCm39) |
|
probably null |
Het |
| Col4a3 |
A |
T |
1: 82,660,482 (GRCm39) |
E933D |
unknown |
Het |
| Csmd1 |
A |
T |
8: 16,120,327 (GRCm39) |
L1826Q |
probably damaging |
Het |
| Enpp2 |
C |
T |
15: 54,707,774 (GRCm39) |
|
probably null |
Het |
| Ep400 |
G |
A |
5: 110,841,037 (GRCm39) |
R1832* |
probably null |
Het |
| Exoc5 |
T |
C |
14: 49,286,222 (GRCm39) |
K135R |
probably benign |
Het |
| Fam83h |
A |
G |
15: 75,873,746 (GRCm39) |
F1197S |
probably damaging |
Het |
| Gabrg1 |
T |
C |
5: 70,939,623 (GRCm39) |
I170V |
probably benign |
Het |
| Gigyf2 |
C |
T |
1: 87,346,828 (GRCm39) |
R610C |
unknown |
Het |
| Gm16440 |
T |
C |
14: 17,575,339 (GRCm39) |
E119G |
probably benign |
Het |
| Gm17669 |
A |
G |
18: 67,695,508 (GRCm39) |
R18G |
probably damaging |
Het |
| Gxylt1 |
A |
G |
15: 93,159,708 (GRCm39) |
S100P |
probably damaging |
Het |
| H3c10 |
C |
A |
13: 21,902,089 (GRCm39) |
S87R |
possibly damaging |
Het |
| Hacd4 |
C |
G |
4: 88,316,342 (GRCm39) |
R259T |
unknown |
Het |
| Hacd4 |
T |
A |
4: 88,316,343 (GRCm39) |
R259* |
probably null |
Het |
| Hivep3 |
T |
C |
4: 119,956,379 (GRCm39) |
L1565P |
probably damaging |
Het |
| Iqsec1 |
T |
A |
6: 90,667,471 (GRCm39) |
D218V |
probably damaging |
Het |
| Matn2 |
C |
T |
15: 34,428,877 (GRCm39) |
T747I |
possibly damaging |
Het |
| Myl6b |
T |
A |
10: 128,332,175 (GRCm39) |
Q97L |
possibly damaging |
Het |
| Or5d18 |
A |
T |
2: 87,865,126 (GRCm39) |
M119K |
probably damaging |
Het |
| Pcdh1 |
A |
G |
18: 38,336,419 (GRCm39) |
V72A |
probably damaging |
Het |
| Pira2 |
T |
C |
7: 3,845,173 (GRCm39) |
T362A |
probably benign |
Het |
| Pira2 |
C |
T |
7: 3,845,169 (GRCm39) |
S363N |
probably benign |
Het |
| Pira2 |
G |
C |
7: 3,845,172 (GRCm39) |
T362S |
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,293,130 (GRCm39) |
V2830A |
possibly damaging |
Het |
| Plpp1 |
A |
G |
13: 112,993,419 (GRCm39) |
D118G |
probably damaging |
Het |
| Polr2a |
A |
G |
11: 69,626,793 (GRCm39) |
S1514P |
possibly damaging |
Het |
| Pou3f2 |
G |
T |
4: 22,487,291 (GRCm39) |
Q281K |
possibly damaging |
Het |
| Prl7a2 |
A |
T |
13: 27,843,259 (GRCm39) |
Y181* |
probably null |
Het |
| Prpf4b |
T |
A |
13: 35,068,274 (GRCm39) |
S368T |
probably benign |
Het |
| Prss45 |
A |
G |
9: 110,667,513 (GRCm39) |
D53G |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,609,641 (GRCm39) |
H4395L |
possibly damaging |
Het |
| Spp2 |
G |
T |
1: 88,338,927 (GRCm39) |
A97S |
probably benign |
Het |
| Strn4 |
T |
C |
7: 16,556,434 (GRCm39) |
F99S |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 36,054,557 (GRCm39) |
D601G |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,803,166 (GRCm39) |
M870L |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,773,569 (GRCm39) |
T2351A |
unknown |
Het |
| Xirp2 |
T |
A |
2: 67,341,941 (GRCm39) |
I1394K |
possibly damaging |
Het |
| Zfc3h1 |
G |
T |
10: 115,226,794 (GRCm39) |
D284Y |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGCTGACTGGCCCAATTC -3'
(R):5'- GAACTCCTTCTTATTGGGGAGGC -3'
Sequencing Primer
(F):5'- GCCCAATTCCAGGCCTGAC -3'
(R):5'- CAGCCTTCCCAGTGATGGTG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation