Incidental Mutation 'R7813:Tcaf1'
| ID |
601291 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcaf1
|
| Ensembl Gene |
ENSMUSG00000036667 |
| Gene Name |
TRPM8 channel-associated factor 1 |
| Synonyms |
3321401G04Rik, A230020K05Rik, 2810407D09Rik, Fam115a |
| MMRRC Submission |
045868-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R7813 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
42644936-42687022 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to C
at 42650363 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 905
(Y905*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045054]
[ENSMUST00000045140]
[ENSMUST00000121083]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000045054
AA Change: Y905*
|
| SMART Domains |
Protein: ENSMUSP00000046137
Gene: ENSMUSG00000036667
AA Change: Y905*
| 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 null
Transcript: ENSMUST00000045140
AA Change: Y905*
|
| SMART Domains |
Protein: ENSMUSP00000036379
Gene: ENSMUSG00000036667
AA Change: Y905*
| 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 null
Transcript: ENSMUST00000121083
AA Change: Y905*
|
| SMART Domains |
Protein: ENSMUSP00000114036
Gene: ENSMUSG00000036667
AA Change: Y905*
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
G |
A |
10: 29,100,896 (GRCm39) |
R423K |
probably benign |
Het |
| Acot7 |
T |
C |
4: 152,307,575 (GRCm39) |
S170P |
probably damaging |
Het |
| Arhgap40 |
A |
G |
2: 158,380,620 (GRCm39) |
Q341R |
probably benign |
Het |
| Arhgef28 |
T |
C |
13: 98,082,189 (GRCm39) |
E1206G |
possibly damaging |
Het |
| Arpp21 |
T |
A |
9: 112,008,133 (GRCm39) |
K122N |
probably damaging |
Het |
| Arsi |
T |
C |
18: 61,049,726 (GRCm39) |
L203P |
possibly damaging |
Het |
| C1rb |
A |
T |
6: 124,557,488 (GRCm39) |
I542F |
probably benign |
Het |
| Cadm3 |
C |
A |
1: 173,171,956 (GRCm39) |
V206L |
probably benign |
Het |
| Card11 |
T |
C |
5: 140,885,419 (GRCm39) |
D380G |
probably damaging |
Het |
| Ccdc42 |
A |
T |
11: 68,488,534 (GRCm39) |
Q164L |
probably benign |
Het |
| Ccnd1 |
A |
G |
7: 144,491,622 (GRCm39) |
|
probably null |
Het |
| Cep120 |
T |
C |
18: 53,871,578 (GRCm39) |
D98G |
probably damaging |
Het |
| Chrd |
A |
G |
16: 20,554,155 (GRCm39) |
T336A |
probably benign |
Het |
| Clca3a2 |
C |
A |
3: 144,790,726 (GRCm39) |
A449S |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,657,245 (GRCm39) |
F844L |
probably benign |
Het |
| Fbxo11 |
T |
A |
17: 88,308,245 (GRCm39) |
I480F |
|
Het |
| Fcrl5 |
A |
G |
3: 87,350,930 (GRCm39) |
T147A |
probably benign |
Het |
| Gm15130 |
T |
A |
2: 110,969,320 (GRCm39) |
I133F |
|
Het |
| Gpr155 |
C |
T |
2: 73,212,329 (GRCm39) |
W98* |
probably null |
Het |
| Hspa4 |
A |
G |
11: 53,162,863 (GRCm39) |
S408P |
probably damaging |
Het |
| Il12rb2 |
G |
A |
6: 67,333,635 (GRCm39) |
R215C |
possibly damaging |
Het |
| Itga5 |
T |
A |
15: 103,265,741 (GRCm39) |
|
probably null |
Het |
| Kcnip3 |
T |
A |
2: 127,323,703 (GRCm39) |
|
probably null |
Het |
| Krt12 |
A |
G |
11: 99,309,309 (GRCm39) |
|
probably null |
Het |
| Marchf3 |
A |
T |
18: 56,916,163 (GRCm39) |
S177R |
probably benign |
Het |
| Minpp1 |
T |
G |
19: 32,468,803 (GRCm39) |
F229V |
probably damaging |
Het |
| Muc2 |
G |
A |
7: 141,282,543 (GRCm39) |
|
probably null |
Het |
| Myh10 |
A |
G |
11: 68,676,735 (GRCm39) |
T906A |
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,218,056 (GRCm39) |
D43G |
probably benign |
Het |
| Nacad |
C |
T |
11: 6,549,071 (GRCm39) |
D1327N |
probably benign |
Het |
| Nbeal1 |
A |
T |
1: 60,331,048 (GRCm39) |
Y2219F |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,953,163 (GRCm39) |
S1130P |
probably benign |
Het |
| Pfkfb3 |
T |
C |
2: 11,486,719 (GRCm39) |
N415S |
probably benign |
Het |
| Plxdc2 |
A |
G |
2: 16,665,678 (GRCm39) |
I293V |
possibly damaging |
Het |
| Prpf38a |
A |
T |
4: 108,436,277 (GRCm39) |
I12N |
probably damaging |
Het |
| Ptprt |
C |
T |
2: 161,372,413 (GRCm39) |
V1420M |
probably damaging |
Het |
| Qars1 |
A |
G |
9: 108,386,670 (GRCm39) |
D161G |
probably damaging |
Het |
| Scaf8 |
T |
A |
17: 3,247,549 (GRCm39) |
D957E |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,506,689 (GRCm39) |
Y1400C |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,832,801 (GRCm39) |
I999V |
probably benign |
Het |
| Sorcs2 |
A |
T |
5: 36,181,958 (GRCm39) |
L1054H |
probably damaging |
Het |
| Sptbn1 |
C |
T |
11: 30,088,455 (GRCm39) |
A906T |
probably damaging |
Het |
| Srd5a2 |
A |
G |
17: 74,331,541 (GRCm39) |
F152S |
probably benign |
Het |
| Stkld1 |
T |
A |
2: 26,835,888 (GRCm39) |
L241* |
probably null |
Het |
| Strip2 |
A |
T |
6: 29,923,912 (GRCm39) |
|
probably null |
Het |
| Tet2 |
T |
C |
3: 133,179,404 (GRCm39) |
I1254V |
probably benign |
Het |
| Tiam2 |
A |
T |
17: 3,487,522 (GRCm39) |
N681I |
probably damaging |
Het |
| Trappc6a |
A |
G |
7: 19,248,124 (GRCm39) |
|
probably null |
Het |
| Trav12-2 |
A |
T |
14: 53,854,223 (GRCm39) |
K66* |
probably null |
Het |
| Ttn |
T |
A |
2: 76,597,841 (GRCm39) |
I19691F |
probably damaging |
Het |
| Tubgcp5 |
A |
T |
7: 55,450,444 (GRCm39) |
Q185L |
possibly damaging |
Het |
| Vmn1r44 |
A |
T |
6: 89,869,192 (GRCm39) |
|
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,628,820 (GRCm39) |
D2717G |
possibly damaging |
Het |
| Vps13d |
A |
T |
4: 144,904,633 (GRCm39) |
Y133* |
probably null |
Het |
| Zer1 |
T |
C |
2: 30,000,385 (GRCm39) |
D265G |
probably damaging |
Het |
| Zfp710 |
A |
G |
7: 79,730,859 (GRCm39) |
D12G |
possibly damaging |
Het |
| Zfp819 |
T |
C |
7: 43,266,191 (GRCm39) |
S225P |
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 |
|
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 |
|
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'- CCACTTCCTAGAGACAGAAGTC -3'
(R):5'- TCCAAGAGGCCTTTGGTTGG -3'
Sequencing Primer
(F):5'- TCGGTAATAAGACACAGGAGC -3'
(R):5'- TGGGAGCCATTTATTCGTCTC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation