Incidental Mutation 'R1166:Tcaf1'
| ID |
101008 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcaf1
|
| Ensembl Gene |
ENSMUSG00000036667 |
| Gene Name |
TRPM8 channel-associated factor 1 |
| Synonyms |
3321401G04Rik, A230020K05Rik, 2810407D09Rik, Fam115a |
| MMRRC Submission |
039239-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R1166 (G1)
|
| Quality Score |
139 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
42644936-42687022 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 42655612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 455
(I455V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114036
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045054]
[ENSMUST00000045140]
[ENSMUST00000121083]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045054
AA Change: I455V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000046137
Gene: ENSMUSG00000036667
AA Change: I455V
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
14 |
197 |
6.95e-30 |
PROSPERO |
|
low complexity region
|
207 |
221 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
222 |
406 |
6.95e-30 |
PROSPERO |
|
low complexity region
|
463 |
474 |
N/A |
INTRINSIC |
|
M60-like
|
542 |
841 |
1.94e-128 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045140
AA Change: I455V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000036379
Gene: ENSMUSG00000036667
AA Change: I455V
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
14 |
197 |
6.95e-30 |
PROSPERO |
|
low complexity region
|
207 |
221 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
222 |
406 |
6.95e-30 |
PROSPERO |
|
low complexity region
|
463 |
474 |
N/A |
INTRINSIC |
|
M60-like
|
542 |
841 |
1.94e-128 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121083
AA Change: I455V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114036
Gene: ENSMUSG00000036667
AA Change: I455V
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
14 |
197 |
6.95e-30 |
PROSPERO |
|
low complexity region
|
207 |
221 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
222 |
406 |
6.95e-30 |
PROSPERO |
|
low complexity region
|
463 |
474 |
N/A |
INTRINSIC |
|
M60-like
|
542 |
841 |
1.94e-128 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152100
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165486
|
| Meta Mutation Damage Score |
0.0725 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.3%
- 10x: 95.0%
- 20x: 86.3%
|
| Validation Efficiency |
96% (43/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,547,880 (GRCm39) |
K286R |
probably benign |
Het |
| Arhgef10l |
T |
C |
4: 140,302,581 (GRCm39) |
|
probably benign |
Het |
| Ccdc175 |
T |
G |
12: 72,152,706 (GRCm39) |
K733T |
probably damaging |
Het |
| Cenpn |
T |
G |
8: 117,652,946 (GRCm39) |
I39R |
probably damaging |
Het |
| Cfap53 |
A |
T |
18: 74,433,251 (GRCm39) |
Y112F |
possibly damaging |
Het |
| Cngb1 |
C |
A |
8: 95,986,809 (GRCm39) |
C361F |
probably damaging |
Het |
| Ctf2 |
T |
C |
7: 127,318,685 (GRCm39) |
T105A |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,364,970 (GRCm39) |
T3584S |
probably damaging |
Het |
| Ebf3 |
C |
T |
7: 136,914,896 (GRCm39) |
|
probably benign |
Het |
| Ep300 |
A |
G |
15: 81,514,265 (GRCm39) |
|
probably benign |
Het |
| Fbxo17 |
T |
A |
7: 28,432,953 (GRCm39) |
V158E |
probably damaging |
Het |
| Fbxw24 |
T |
C |
9: 109,436,066 (GRCm39) |
E322G |
probably benign |
Het |
| Gm5698 |
G |
T |
1: 31,016,366 (GRCm39) |
D228E |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,059,277 (GRCm39) |
D248E |
probably benign |
Het |
| Insm2 |
T |
C |
12: 55,647,281 (GRCm39) |
S342P |
probably benign |
Het |
| Krt36 |
G |
A |
11: 99,993,654 (GRCm39) |
R395C |
probably benign |
Het |
| Lrrc37 |
A |
G |
11: 103,506,209 (GRCm39) |
S1920P |
probably benign |
Het |
| Lsm14b |
T |
A |
2: 179,673,334 (GRCm39) |
|
probably benign |
Het |
| Map1a |
A |
G |
2: 121,130,741 (GRCm39) |
E519G |
probably damaging |
Het |
| Mfsd14a |
T |
C |
3: 116,427,543 (GRCm39) |
|
probably benign |
Het |
| Mfsd4b5 |
T |
C |
10: 39,846,419 (GRCm39) |
Y387C |
probably damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,154,449 (GRCm39) |
N1063D |
possibly damaging |
Het |
| Nlrp10 |
T |
A |
7: 108,524,217 (GRCm39) |
H421L |
probably damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or4a81 |
A |
G |
2: 89,619,675 (GRCm39) |
V7A |
possibly damaging |
Het |
| Pacrg |
A |
T |
17: 10,622,268 (GRCm39) |
Y235* |
probably null |
Het |
| Pde4dip |
T |
A |
3: 97,620,512 (GRCm39) |
D1629V |
possibly damaging |
Het |
| Prl8a2 |
G |
T |
13: 27,537,935 (GRCm39) |
S204I |
possibly damaging |
Het |
| Sec24a |
A |
T |
11: 51,624,294 (GRCm39) |
M356K |
possibly damaging |
Het |
| Sh3tc2 |
A |
C |
18: 62,124,247 (GRCm39) |
S972R |
probably damaging |
Het |
| Shc2 |
C |
T |
10: 79,456,946 (GRCm39) |
V557M |
probably damaging |
Het |
| Slc2a9 |
A |
G |
5: 38,539,384 (GRCm39) |
|
probably null |
Het |
| Umodl1 |
T |
G |
17: 31,221,772 (GRCm39) |
|
probably benign |
Het |
| Wdr27 |
T |
C |
17: 15,112,733 (GRCm39) |
T658A |
probably damaging |
Het |
| Zfp318 |
T |
C |
17: 46,720,618 (GRCm39) |
Y1119H |
possibly damaging |
Het |
| Zfp939 |
C |
A |
7: 39,122,763 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Tcaf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01090:Tcaf1
|
APN |
6 |
42,663,556 (GRCm39) |
missense |
probably benign |
|
|
IGL02415:Tcaf1
|
APN |
6 |
42,663,584 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02504:Tcaf1
|
APN |
6 |
42,656,213 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02960:Tcaf1
|
APN |
6 |
42,663,393 (GRCm39) |
missense |
probably benign |
|
|
IGL03022:Tcaf1
|
APN |
6 |
42,655,060 (GRCm39) |
nonsense |
probably null |
|
|
PIT4696001:Tcaf1
|
UTSW |
6 |
42,655,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0103:Tcaf1
|
UTSW |
6 |
42,663,324 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0103:Tcaf1
|
UTSW |
6 |
42,663,324 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0586:Tcaf1
|
UTSW |
6 |
42,650,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0717:Tcaf1
|
UTSW |
6 |
42,655,599 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0724:Tcaf1
|
UTSW |
6 |
42,652,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1472:Tcaf1
|
UTSW |
6 |
42,663,382 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1538:Tcaf1
|
UTSW |
6 |
42,655,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1721:Tcaf1
|
UTSW |
6 |
42,652,272 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1776:Tcaf1
|
UTSW |
6 |
42,655,389 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2136:Tcaf1
|
UTSW |
6 |
42,650,454 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3433:Tcaf1
|
UTSW |
6 |
42,663,508 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3951:Tcaf1
|
UTSW |
6 |
42,655,993 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4472:Tcaf1
|
UTSW |
6 |
42,656,248 (GRCm39) |
missense |
probably benign |
|
|
R4740:Tcaf1
|
UTSW |
6 |
42,663,809 (GRCm39) |
missense |
probably benign |
|
|
R4915:Tcaf1
|
UTSW |
6 |
42,652,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5249:Tcaf1
|
UTSW |
6 |
42,653,793 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5340:Tcaf1
|
UTSW |
6 |
42,655,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5458:Tcaf1
|
UTSW |
6 |
42,663,476 (GRCm39) |
missense |
probably benign |
|
|
R6196:Tcaf1
|
UTSW |
6 |
42,653,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6772:Tcaf1
|
UTSW |
6 |
42,652,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7066:Tcaf1
|
UTSW |
6 |
42,656,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7145:Tcaf1
|
UTSW |
6 |
42,663,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7204:Tcaf1
|
UTSW |
6 |
42,651,973 (GRCm39) |
splice site |
probably null |
|
|
R7529:Tcaf1
|
UTSW |
6 |
42,652,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7554:Tcaf1
|
UTSW |
6 |
42,654,388 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7813:Tcaf1
|
UTSW |
6 |
42,650,363 (GRCm39) |
nonsense |
probably null |
|
|
R8191:Tcaf1
|
UTSW |
6 |
42,652,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8194:Tcaf1
|
UTSW |
6 |
42,652,236 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8532:Tcaf1
|
UTSW |
6 |
42,655,065 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8784:Tcaf1
|
UTSW |
6 |
42,656,221 (GRCm39) |
missense |
probably benign |
|
|
R8801:Tcaf1
|
UTSW |
6 |
42,663,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8945:Tcaf1
|
UTSW |
6 |
42,663,307 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8989:Tcaf1
|
UTSW |
6 |
42,663,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9076:Tcaf1
|
UTSW |
6 |
42,654,372 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9260:Tcaf1
|
UTSW |
6 |
42,663,554 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9321:Tcaf1
|
UTSW |
6 |
42,656,290 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9539:Tcaf1
|
UTSW |
6 |
42,655,683 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9673:Tcaf1
|
UTSW |
6 |
42,663,808 (GRCm39) |
missense |
probably benign |
|
|
RF013:Tcaf1
|
UTSW |
6 |
42,656,107 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1177:Tcaf1
|
UTSW |
6 |
42,650,411 (GRCm39) |
missense |
probably benign |
0.43 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation