Incidental Mutation 'IGL02415:Tcaf1'
ID |
292392 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tcaf1
|
Ensembl Gene |
ENSMUSG00000036667 |
Gene Name |
TRPM8 channel-associated factor 1 |
Synonyms |
3321401G04Rik, A230020K05Rik, 2810407D09Rik, Fam115a |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
IGL02415
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
42644936-42687022 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 42663584 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 99
(A99T)
|
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: A99T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000046137 Gene: ENSMUSG00000036667 AA Change: A99T
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: A99T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000036379 Gene: ENSMUSG00000036667 AA Change: A99T
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: A99T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000114036 Gene: ENSMUSG00000036667 AA Change: A99T
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: ENSMUST00000141794
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151021
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152100
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165486
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110059G10Rik |
T |
C |
9: 122,777,056 (GRCm39) |
D124G |
probably benign |
Het |
Adamts13 |
T |
A |
2: 26,879,295 (GRCm39) |
I616N |
possibly damaging |
Het |
Adamts3 |
T |
C |
5: 89,854,506 (GRCm39) |
|
probably null |
Het |
Amy1 |
T |
C |
3: 113,357,234 (GRCm39) |
I202V |
probably benign |
Het |
Bdp1 |
G |
A |
13: 100,225,916 (GRCm39) |
T322I |
probably damaging |
Het |
Cep295 |
A |
G |
9: 15,264,316 (GRCm39) |
L110S |
probably damaging |
Het |
Cep72 |
T |
C |
13: 74,198,273 (GRCm39) |
D369G |
probably benign |
Het |
Chd3 |
A |
T |
11: 69,239,739 (GRCm39) |
|
probably benign |
Het |
Ckmt2 |
G |
A |
13: 92,011,459 (GRCm39) |
|
probably benign |
Het |
Cyp2s1 |
T |
C |
7: 25,507,562 (GRCm39) |
T296A |
probably damaging |
Het |
E2f5 |
T |
A |
3: 14,668,957 (GRCm39) |
V283E |
probably benign |
Het |
Eeig2 |
A |
G |
3: 108,887,608 (GRCm39) |
Y219H |
probably damaging |
Het |
F5 |
A |
G |
1: 164,019,498 (GRCm39) |
T658A |
probably damaging |
Het |
Gml |
A |
T |
15: 74,688,289 (GRCm39) |
Y59* |
probably null |
Het |
Kmo |
A |
T |
1: 175,476,889 (GRCm39) |
|
probably benign |
Het |
Krt25 |
A |
T |
11: 99,213,398 (GRCm39) |
I107N |
probably damaging |
Het |
Llgl2 |
A |
G |
11: 115,744,111 (GRCm39) |
M773V |
probably damaging |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Med12 |
T |
C |
X: 100,325,396 (GRCm39) |
V761A |
probably damaging |
Het |
Mrpl19 |
T |
C |
6: 81,940,942 (GRCm39) |
T150A |
probably benign |
Het |
Muc2 |
G |
T |
7: 141,305,609 (GRCm39) |
E646* |
probably null |
Het |
Muc20 |
T |
A |
16: 32,615,051 (GRCm39) |
T109S |
unknown |
Het |
Nr2f6 |
T |
C |
8: 71,827,156 (GRCm39) |
T382A |
probably benign |
Het |
Nrap |
A |
G |
19: 56,370,741 (GRCm39) |
I172T |
probably damaging |
Het |
Or5an1 |
A |
G |
19: 12,260,862 (GRCm39) |
Y150C |
probably benign |
Het |
Or8b47 |
T |
C |
9: 38,435,408 (GRCm39) |
C127R |
probably benign |
Het |
P3h1 |
A |
T |
4: 119,105,152 (GRCm39) |
Q710L |
probably benign |
Het |
Parvb |
A |
G |
15: 84,177,016 (GRCm39) |
H185R |
probably damaging |
Het |
Pkhd1 |
A |
G |
1: 20,484,645 (GRCm39) |
I1970T |
probably damaging |
Het |
Pkhd1 |
T |
C |
1: 20,592,983 (GRCm39) |
Y1710C |
probably damaging |
Het |
Plxna2 |
C |
A |
1: 194,326,272 (GRCm39) |
R69S |
probably damaging |
Het |
Rad51ap2 |
A |
G |
12: 11,506,930 (GRCm39) |
N284S |
possibly damaging |
Het |
Reln |
T |
A |
5: 22,176,949 (GRCm39) |
S1906C |
possibly damaging |
Het |
Rln1 |
T |
C |
19: 29,311,798 (GRCm39) |
R67G |
probably damaging |
Het |
Shcbp1 |
C |
T |
8: 4,804,239 (GRCm39) |
V224I |
possibly damaging |
Het |
Slc13a4 |
A |
G |
6: 35,260,172 (GRCm39) |
|
probably null |
Het |
Stx6 |
A |
G |
1: 155,069,059 (GRCm39) |
E195G |
possibly damaging |
Het |
Sult2b1 |
G |
T |
7: 45,391,509 (GRCm39) |
D90E |
possibly damaging |
Het |
Taok1 |
A |
G |
11: 77,431,066 (GRCm39) |
|
probably benign |
Het |
Tbx15 |
A |
T |
3: 99,259,826 (GRCm39) |
M566L |
probably benign |
Het |
Tcf20 |
T |
A |
15: 82,737,660 (GRCm39) |
M1264L |
probably benign |
Het |
Tenm4 |
G |
A |
7: 96,523,281 (GRCm39) |
V1571M |
probably damaging |
Het |
Ttc39a |
A |
G |
4: 109,288,726 (GRCm39) |
|
probably benign |
Het |
Ubr1 |
C |
A |
2: 120,801,084 (GRCm39) |
|
probably benign |
Het |
Ulk1 |
T |
C |
5: 110,935,487 (GRCm39) |
D926G |
probably damaging |
Het |
Vmn2r110 |
T |
C |
17: 20,804,033 (GRCm39) |
I181V |
probably benign |
Het |
Vmn2r66 |
G |
A |
7: 84,656,020 (GRCm39) |
T332I |
probably damaging |
Het |
Wdr1 |
C |
A |
5: 38,688,453 (GRCm39) |
D161Y |
probably damaging |
Het |
Wnt7a |
T |
C |
6: 91,371,539 (GRCm39) |
Y141C |
probably damaging |
Het |
Xrra1 |
G |
A |
7: 99,565,150 (GRCm39) |
E573K |
probably benign |
Het |
Zfp334 |
G |
T |
2: 165,223,771 (GRCm39) |
Q91K |
possibly 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 |
|
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 |
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 |
|
Posted On |
2015-04-16 |