Incidental Mutation 'R6234:Tcaf2'
ID |
504815 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tcaf2
|
Ensembl Gene |
ENSMUSG00000029851 |
Gene Name |
TRPM8 channel-associated factor 2 |
Synonyms |
Fam115c |
MMRRC Submission |
044399-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R6234 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
42599950-42622134 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 42607308 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 215
(H215Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031879
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031879]
|
AlphaFold |
Q921K8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031879
AA Change: H215Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000031879 Gene: ENSMUSG00000029851 AA Change: H215Q
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (51/51) |
Allele List at MGI |
All alleles(1) : Targeted(1)
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
T |
G |
8: 44,078,949 (GRCm39) |
N425T |
probably benign |
Het |
Adgb |
A |
C |
10: 10,228,824 (GRCm39) |
|
probably null |
Het |
Aldoart1 |
A |
G |
4: 72,770,409 (GRCm39) |
I78T |
probably damaging |
Het |
Bcl2l2 |
A |
G |
14: 55,122,245 (GRCm39) |
D136G |
probably benign |
Het |
Bltp1 |
A |
G |
3: 37,037,620 (GRCm39) |
T2475A |
probably benign |
Het |
Cd34 |
A |
T |
1: 194,630,308 (GRCm39) |
I81F |
probably damaging |
Het |
Chmp1b |
T |
A |
18: 67,339,169 (GRCm39) |
*200R |
probably null |
Het |
Clic6 |
T |
C |
16: 92,296,110 (GRCm39) |
S257P |
probably benign |
Het |
Cnga4 |
T |
G |
7: 105,056,906 (GRCm39) |
Y336* |
probably null |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Eef1akmt2 |
T |
C |
7: 132,429,585 (GRCm39) |
T215A |
probably damaging |
Het |
Fbrsl1 |
G |
A |
5: 110,525,917 (GRCm39) |
T95I |
probably damaging |
Het |
Fer1l6 |
T |
C |
15: 58,432,488 (GRCm39) |
I345T |
probably damaging |
Het |
Fmn1 |
T |
C |
2: 113,196,000 (GRCm39) |
F567L |
unknown |
Het |
Ftdc1 |
T |
A |
16: 58,435,034 (GRCm39) |
D97V |
probably benign |
Het |
Gabrg1 |
A |
T |
5: 70,999,484 (GRCm39) |
L22I |
probably benign |
Het |
Gfm1 |
A |
G |
3: 67,342,847 (GRCm39) |
D127G |
probably damaging |
Het |
Gm5114 |
T |
A |
7: 39,058,768 (GRCm39) |
T284S |
probably benign |
Het |
Gm9925 |
A |
T |
18: 74,198,308 (GRCm39) |
|
probably benign |
Het |
Hc |
T |
C |
2: 34,918,058 (GRCm39) |
I742V |
probably benign |
Het |
Heatr5a |
A |
T |
12: 51,924,237 (GRCm39) |
M1992K |
possibly damaging |
Het |
Homer3 |
T |
C |
8: 70,743,815 (GRCm39) |
|
probably null |
Het |
Hsf5 |
C |
G |
11: 87,508,120 (GRCm39) |
T8S |
probably benign |
Het |
Hspa4 |
C |
T |
11: 53,153,766 (GRCm39) |
E702K |
probably benign |
Het |
Il21r |
A |
G |
7: 125,231,757 (GRCm39) |
D395G |
probably damaging |
Het |
Kctd14 |
T |
A |
7: 97,107,219 (GRCm39) |
V190E |
probably damaging |
Het |
Mamdc4 |
C |
G |
2: 25,460,092 (GRCm39) |
G57A |
probably damaging |
Het |
Mroh2a |
T |
C |
1: 88,162,334 (GRCm39) |
|
probably null |
Het |
Mroh2a |
T |
C |
1: 88,184,476 (GRCm39) |
V1453A |
probably benign |
Het |
Mtch1 |
A |
T |
17: 29,559,485 (GRCm39) |
|
probably null |
Het |
Nasp |
G |
A |
4: 116,479,979 (GRCm39) |
A31V |
possibly damaging |
Het |
Neil3 |
G |
T |
8: 54,061,774 (GRCm39) |
D202E |
probably damaging |
Het |
Nfkb1 |
C |
T |
3: 135,332,471 (GRCm39) |
V95I |
possibly damaging |
Het |
Ptpra |
T |
A |
2: 130,379,508 (GRCm39) |
M327K |
probably damaging |
Het |
Ptprg |
C |
A |
14: 12,213,747 (GRCm38) |
F263L |
probably damaging |
Het |
Sap30 |
A |
G |
8: 57,938,152 (GRCm39) |
V155A |
probably damaging |
Het |
Serpinb2 |
G |
A |
1: 107,452,501 (GRCm39) |
V360M |
probably damaging |
Het |
Stradb |
A |
G |
1: 59,027,707 (GRCm39) |
H79R |
probably damaging |
Het |
Svep1 |
A |
T |
4: 58,113,458 (GRCm39) |
|
probably null |
Het |
Tdrd5 |
A |
T |
1: 156,120,947 (GRCm39) |
S227T |
possibly damaging |
Het |
Timmdc1 |
A |
T |
16: 38,338,861 (GRCm39) |
Y76* |
probably null |
Het |
Tmbim4 |
T |
A |
10: 120,057,628 (GRCm39) |
|
probably null |
Het |
Tpr |
A |
G |
1: 150,293,790 (GRCm39) |
K854R |
probably benign |
Het |
Trav6-5 |
A |
G |
14: 53,728,832 (GRCm39) |
T30A |
probably benign |
Het |
Trrap |
T |
A |
5: 144,776,523 (GRCm39) |
|
probably null |
Het |
Ube2o |
A |
T |
11: 116,430,316 (GRCm39) |
S1141T |
probably benign |
Het |
Usp54 |
T |
A |
14: 20,633,518 (GRCm39) |
K339I |
probably damaging |
Het |
Vwf |
T |
G |
6: 125,634,128 (GRCm39) |
V202G |
unknown |
Het |
Wdr7 |
T |
C |
18: 63,857,203 (GRCm39) |
L93P |
probably damaging |
Het |
Zfp871 |
CCACAC |
CC |
17: 32,994,494 (GRCm39) |
|
probably null |
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 |
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'- TTCCATCTTAGGAGCGCAGAG -3'
(R):5'- CACCAGCGTTTTGTTTATTGCTAAG -3'
Sequencing Primer
(F):5'- ATGGCCTCATGTGCAGC -3'
(R):5'- ATGTGATTAATTGTGAGATGGCAAG -3'
|
Posted On |
2018-02-28 |