Incidental Mutation 'R9539:Tcaf1'
| ID |
719803 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcaf1
|
| Ensembl Gene |
ENSMUSG00000036667 |
| Gene Name |
TRPM8 channel-associated factor 1 |
| Synonyms |
3321401G04Rik, A230020K05Rik, 2810407D09Rik, Fam115a |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R9539 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
42644936-42687022 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 42655683 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 431
(N431S)
|
| 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 benign
Transcript: ENSMUST00000045054
AA Change: N431S
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000046137
Gene: ENSMUSG00000036667
AA Change: N431S
| 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: N431S
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000036379
Gene: ENSMUSG00000036667
AA Change: N431S
| 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: N431S
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000114036
Gene: ENSMUSG00000036667
AA Change: N431S
| 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: 99.9%
- 10x: 99.3%
- 20x: 97.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asah1 |
G |
A |
8: 41,827,584 (GRCm39) |
A13V |
probably benign |
Het |
| Bdh1 |
A |
G |
16: 31,273,914 (GRCm39) |
T160A |
probably benign |
Het |
| Ccdc115 |
C |
T |
1: 34,477,930 (GRCm39) |
|
probably null |
Het |
| Ccdc162 |
T |
A |
10: 41,463,407 (GRCm39) |
E1445V |
possibly damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,901,993 (GRCm39) |
E1215G |
possibly damaging |
Het |
| Cep290 |
A |
T |
10: 100,404,713 (GRCm39) |
E2358D |
probably damaging |
Het |
| Cog6 |
A |
G |
3: 52,914,722 (GRCm39) |
S245P |
probably benign |
Het |
| Copb2 |
A |
T |
9: 98,467,983 (GRCm39) |
|
probably null |
Het |
| Crtc1 |
T |
A |
8: 70,892,115 (GRCm39) |
M32L |
probably benign |
Het |
| Dagla |
A |
C |
19: 10,228,429 (GRCm39) |
|
probably null |
Het |
| Dph5 |
C |
A |
3: 115,722,305 (GRCm39) |
P261Q |
probably damaging |
Het |
| Gpr137c |
T |
C |
14: 45,516,187 (GRCm39) |
V307A |
probably damaging |
Het |
| Herpud2 |
A |
G |
9: 25,041,936 (GRCm39) |
Y79H |
probably damaging |
Het |
| Ighg2b |
C |
T |
12: 113,270,498 (GRCm39) |
V211I |
|
Het |
| Meioc |
C |
T |
11: 102,565,506 (GRCm39) |
T318M |
probably damaging |
Het |
| Mterf4 |
T |
C |
1: 93,229,188 (GRCm39) |
Y275C |
unknown |
Het |
| Mtfr1 |
T |
C |
3: 19,271,422 (GRCm39) |
V198A |
probably benign |
Het |
| Ogfrl1 |
T |
A |
1: 23,415,322 (GRCm39) |
I138F |
probably damaging |
Het |
| Pacc1 |
C |
T |
1: 191,077,174 (GRCm39) |
Q166* |
probably null |
Het |
| Pf4 |
T |
A |
5: 90,920,891 (GRCm39) |
V73D |
possibly damaging |
Het |
| Phldb1 |
T |
C |
9: 44,627,482 (GRCm39) |
E321G |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,691,427 (GRCm39) |
S59G |
probably null |
Het |
| Pmfbp1 |
A |
G |
8: 110,240,537 (GRCm39) |
I206M |
probably damaging |
Het |
| Ppp1r15a |
A |
G |
7: 45,174,658 (GRCm39) |
V50A |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,725,715 (GRCm39) |
H1496R |
probably benign |
Het |
| Sardh |
T |
A |
2: 27,134,298 (GRCm39) |
I73F |
probably damaging |
Het |
| Serpind1 |
G |
A |
16: 17,157,638 (GRCm39) |
W278* |
probably null |
Het |
| Slit3 |
C |
T |
11: 35,589,155 (GRCm39) |
Q1237* |
probably null |
Het |
| Smg1 |
T |
C |
7: 117,744,976 (GRCm39) |
I3059V |
probably benign |
Het |
| Spart |
T |
A |
3: 55,034,924 (GRCm39) |
W437R |
probably damaging |
Het |
| Spata6 |
C |
G |
4: 111,685,526 (GRCm39) |
A477G |
possibly damaging |
Het |
| Suox |
A |
G |
10: 128,507,383 (GRCm39) |
F215S |
probably damaging |
Het |
| Tgfbr3l |
G |
A |
8: 4,299,679 (GRCm39) |
R154H |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,494,457 (GRCm39) |
K766R |
probably damaging |
Het |
| Tmem63b |
T |
A |
17: 45,984,105 (GRCm39) |
K255* |
probably null |
Het |
| Tmem67 |
A |
T |
4: 12,045,814 (GRCm39) |
L881H |
probably damaging |
Het |
| Tmem67 |
G |
T |
4: 12,045,815 (GRCm39) |
L881I |
probably damaging |
Het |
| Tnrc6b |
A |
G |
15: 80,760,544 (GRCm39) |
S84G |
probably damaging |
Het |
| Traf7 |
C |
T |
17: 24,729,333 (GRCm39) |
V465M |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,618,568 (GRCm39) |
V16239I |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,609,163 (GRCm39) |
|
probably null |
Het |
| Zc3h11a |
T |
C |
1: 133,554,927 (GRCm39) |
E351G |
probably benign |
Het |
| Zfp942 |
T |
A |
17: 22,148,014 (GRCm39) |
H205L |
probably damaging |
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 |
|
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 |
|
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'- ATGGCTCCCCTACAACAGTC -3'
(R):5'- TTGGAACTCAAGCCTGGTGG -3'
Sequencing Primer
(F):5'- GCTCCCCTACAACAGTCATTGATG -3'
(R):5'- GCTTTTAAGAACCCAGGAGTGTCC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation