Incidental Mutation 'R7964:Tcaf2'
| ID |
650258 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcaf2
|
| Ensembl Gene |
ENSMUSG00000029851 |
| Gene Name |
TRPM8 channel-associated factor 2 |
| Synonyms |
Fam115c |
| MMRRC Submission |
046007-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R7964 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
42599950-42622134 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 42606640 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 438
(S438L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031879]
|
| AlphaFold |
Q921K8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031879
AA Change: S438L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000031879
Gene: ENSMUSG00000029851
AA Change: S438L
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(1) : Targeted(1)
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,266,146 (GRCm39) |
M3042L |
probably benign |
Het |
| Abca3 |
T |
A |
17: 24,621,410 (GRCm39) |
L1345Q |
probably benign |
Het |
| Adam20 |
G |
T |
8: 41,249,944 (GRCm39) |
V685F |
probably damaging |
Het |
| Adam25 |
T |
A |
8: 41,208,576 (GRCm39) |
I614N |
probably damaging |
Het |
| Aldh1a7 |
C |
T |
19: 20,677,371 (GRCm39) |
V417M |
probably damaging |
Het |
| Aldh1a7 |
C |
T |
19: 20,693,406 (GRCm39) |
G171D |
probably benign |
Het |
| Aloxe3 |
T |
C |
11: 69,017,362 (GRCm39) |
F45S |
probably damaging |
Het |
| Ankrd26 |
T |
C |
6: 118,500,160 (GRCm39) |
I1104V |
probably benign |
Het |
| Ap3d1 |
C |
A |
10: 80,565,891 (GRCm39) |
R92L |
probably damaging |
Het |
| Aspm |
A |
G |
1: 139,408,424 (GRCm39) |
Q2437R |
probably damaging |
Het |
| Bcl11a |
T |
C |
11: 24,113,353 (GRCm39) |
I232T |
probably benign |
Het |
| Cdcp3 |
G |
T |
7: 130,899,963 (GRCm39) |
R2102L |
unknown |
Het |
| Cemip2 |
T |
C |
19: 21,775,794 (GRCm39) |
|
probably null |
Het |
| Cfap97 |
A |
G |
8: 46,623,237 (GRCm39) |
D209G |
possibly damaging |
Het |
| Csmd2 |
A |
G |
4: 128,417,303 (GRCm39) |
M2754V |
|
Het |
| Dcdc2c |
A |
G |
12: 28,520,318 (GRCm39) |
I586T |
|
Het |
| Dkk4 |
T |
C |
8: 23,115,368 (GRCm39) |
C73R |
probably damaging |
Het |
| Dnai3 |
T |
C |
3: 145,774,531 (GRCm39) |
N439D |
probably benign |
Het |
| Dzip3 |
T |
C |
16: 48,772,268 (GRCm39) |
D467G |
probably damaging |
Het |
| Eif5 |
T |
C |
12: 111,506,608 (GRCm39) |
F67L |
probably benign |
Het |
| Elmod1 |
A |
G |
9: 53,838,860 (GRCm39) |
I100T |
probably benign |
Het |
| Gm9837 |
A |
G |
11: 53,361,001 (GRCm39) |
L71P |
unknown |
Het |
| Hpse |
A |
G |
5: 100,846,777 (GRCm39) |
|
probably null |
Het |
| Insc |
T |
C |
7: 114,445,708 (GRCm39) |
L472P |
probably damaging |
Het |
| Itgax |
A |
C |
7: 127,739,590 (GRCm39) |
|
probably null |
Het |
| Lair1 |
A |
G |
7: 4,013,803 (GRCm39) |
V148A |
probably benign |
Het |
| Lama2 |
A |
G |
10: 27,099,977 (GRCm39) |
|
probably null |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Lgr5 |
T |
C |
10: 115,288,079 (GRCm39) |
D855G |
probably benign |
Het |
| Lrp1 |
C |
A |
10: 127,410,913 (GRCm39) |
R1425L |
possibly damaging |
Het |
| Lrp1b |
A |
G |
2: 40,488,523 (GRCm39) |
S4521P |
|
Het |
| Nbas |
A |
G |
12: 13,406,896 (GRCm39) |
Y831C |
probably damaging |
Het |
| Nek9 |
C |
A |
12: 85,385,787 (GRCm39) |
R70L |
probably benign |
Het |
| Nlrp2 |
A |
C |
7: 5,331,527 (GRCm39) |
L290V |
probably damaging |
Het |
| Nos1 |
T |
A |
5: 118,038,607 (GRCm39) |
I480N |
probably damaging |
Het |
| Or4a80 |
T |
C |
2: 89,583,158 (GRCm39) |
N5D |
possibly damaging |
Het |
| Pcdhb13 |
C |
A |
18: 37,577,871 (GRCm39) |
Q750K |
possibly damaging |
Het |
| Pik3c2g |
C |
T |
6: 139,827,786 (GRCm39) |
T727I |
|
Het |
| Pik3r6 |
C |
A |
11: 68,424,565 (GRCm39) |
P390Q |
probably benign |
Het |
| Pramel1 |
T |
C |
4: 143,123,810 (GRCm39) |
S162P |
probably benign |
Het |
| Psg21 |
A |
G |
7: 18,381,136 (GRCm39) |
M469T |
probably benign |
Het |
| Psg27 |
A |
T |
7: 18,299,124 (GRCm39) |
W66R |
probably damaging |
Het |
| Sbno2 |
A |
G |
10: 79,904,185 (GRCm39) |
C371R |
probably damaging |
Het |
| Shroom1 |
G |
T |
11: 53,355,149 (GRCm39) |
K329N |
possibly damaging |
Het |
| Slc35a3 |
A |
G |
3: 116,480,984 (GRCm39) |
I93T |
possibly damaging |
Het |
| Slc38a2 |
G |
A |
15: 96,590,453 (GRCm39) |
T297M |
probably benign |
Het |
| Sorl1 |
T |
A |
9: 41,902,697 (GRCm39) |
D1620V |
probably damaging |
Het |
| Srsf4 |
T |
A |
4: 131,618,544 (GRCm39) |
L45Q |
probably benign |
Het |
| Trappc11 |
T |
A |
8: 47,979,979 (GRCm39) |
I186L |
possibly damaging |
Het |
| Usp9y |
A |
T |
Y: 1,316,914 (GRCm39) |
N1878K |
probably benign |
Het |
| Zfp280d |
T |
A |
9: 72,229,740 (GRCm39) |
M349K |
probably damaging |
Het |
| Zgpat |
A |
G |
2: 181,020,274 (GRCm39) |
H227R |
probably benign |
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 |
|
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 |
|
| Posted On |
2020-09-15 |
Incidental Mutation