Incidental Mutation 'R6772:Tcaf1'
| ID |
532207 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcaf1
|
| Ensembl Gene |
ENSMUSG00000036667 |
| Gene Name |
TRPM8 channel-associated factor 1 |
| Synonyms |
3321401G04Rik, A230020K05Rik, 2810407D09Rik, Fam115a |
| MMRRC Submission |
044888-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R6772 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
42644936-42687022 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 42652210 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 757
(H757Q)
|
| 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 damaging
Transcript: ENSMUST00000045054
AA Change: H757Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046137
Gene: ENSMUSG00000036667
AA Change: H757Q
| 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 damaging
Transcript: ENSMUST00000045140
AA Change: H757Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036379
Gene: ENSMUSG00000036667
AA Change: H757Q
| 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 damaging
Transcript: ENSMUST00000121083
AA Change: H757Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114036
Gene: ENSMUSG00000036667
AA Change: H757Q
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.7%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
T |
7: 120,126,276 (GRCm39) |
D1144V |
probably damaging |
Het |
| Ankrd13a |
A |
G |
5: 114,939,804 (GRCm39) |
H477R |
probably benign |
Het |
| Anxa3 |
A |
T |
5: 96,958,972 (GRCm39) |
I27F |
probably damaging |
Het |
| Aplf |
T |
C |
6: 87,640,781 (GRCm39) |
E76G |
possibly damaging |
Het |
| Bbs1 |
A |
G |
19: 4,956,618 (GRCm39) |
|
probably benign |
Het |
| Camk2a |
T |
C |
18: 61,102,092 (GRCm39) |
S332P |
probably benign |
Het |
| Casz1 |
T |
A |
4: 149,027,663 (GRCm39) |
F1013L |
probably damaging |
Het |
| Cd109 |
A |
T |
9: 78,588,092 (GRCm39) |
I707F |
possibly damaging |
Het |
| Cd4 |
G |
A |
6: 124,849,421 (GRCm39) |
T202I |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,914,983 (GRCm39) |
S997P |
probably benign |
Het |
| Cfap77 |
T |
C |
2: 28,944,951 (GRCm39) |
T24A |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,621,609 (GRCm39) |
R1019H |
probably damaging |
Het |
| Epb41l4b |
C |
A |
4: 57,063,140 (GRCm39) |
V517F |
probably benign |
Het |
| Exosc10 |
G |
A |
4: 148,665,591 (GRCm39) |
D818N |
probably damaging |
Het |
| Furin |
C |
T |
7: 80,043,240 (GRCm39) |
G324S |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ifi206 |
T |
C |
1: 173,308,773 (GRCm39) |
M408V |
unknown |
Het |
| Kdm4a |
T |
C |
4: 117,999,752 (GRCm39) |
|
probably null |
Het |
| Neo1 |
T |
A |
9: 58,810,259 (GRCm39) |
Q1064L |
probably damaging |
Het |
| Nphp4 |
G |
A |
4: 152,628,863 (GRCm39) |
V750I |
probably benign |
Het |
| Pcdhac1 |
T |
C |
18: 37,223,289 (GRCm39) |
V34A |
probably benign |
Het |
| Pdk4 |
T |
C |
6: 5,487,141 (GRCm39) |
I302V |
probably benign |
Het |
| Prl6a1 |
A |
G |
13: 27,503,031 (GRCm39) |
D209G |
probably damaging |
Het |
| Pspn |
T |
C |
17: 57,306,515 (GRCm39) |
Q138R |
probably benign |
Het |
| Ptgs2 |
A |
G |
1: 149,977,829 (GRCm39) |
Y134C |
probably damaging |
Het |
| Rlbp1 |
G |
A |
7: 79,033,798 (GRCm39) |
|
probably benign |
Het |
| Rpia |
T |
C |
6: 70,762,532 (GRCm39) |
I108V |
probably benign |
Het |
| Ttc8 |
A |
C |
12: 98,909,848 (GRCm39) |
S143R |
probably damaging |
Het |
| Uba6 |
A |
G |
5: 86,294,932 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
A |
T |
4: 139,194,541 (GRCm39) |
K4280* |
probably null |
Het |
| Vmn2r15 |
C |
A |
5: 109,434,238 (GRCm39) |
S822I |
probably damaging |
Het |
| Vps53 |
A |
T |
11: 76,070,324 (GRCm39) |
M1K |
probably null |
Het |
| Zfp362 |
A |
G |
4: 128,684,053 (GRCm39) |
M18T |
possibly damaging |
Het |
| Zfp429 |
A |
G |
13: 67,538,317 (GRCm39) |
C376R |
probably damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,496,466 (GRCm39) |
N1395S |
probably damaging |
Het |
| Zmynd8 |
T |
A |
2: 165,649,521 (GRCm39) |
Q857H |
probably benign |
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 |
|
R1166:Tcaf1
|
UTSW |
6 |
42,655,612 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
PCR Primer
(F):5'- AGTAGATTCGGACTCTCTTCTCC -3'
(R):5'- CCAGATGTGGTGATGAGGTG -3'
Sequencing Primer
(F):5'- TCCCGAACTGGAGGCCATAG -3'
(R):5'- ATGATCTGCAAGTTCCCAAGTC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation