Incidental Mutation 'IGL01090:Tcaf1'
ID |
51290 |
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 # |
IGL01090
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
42644936-42687022 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 42663556 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 108
(C108F)
|
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: C108F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000046137 Gene: ENSMUSG00000036667 AA Change: C108F
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: C108F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000036379 Gene: ENSMUSG00000036667 AA Change: C108F
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: C108F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000114036 Gene: ENSMUSG00000036667 AA Change: C108F
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930590J08Rik |
T |
C |
6: 91,896,099 (GRCm39) |
S316P |
possibly damaging |
Het |
Actn1 |
A |
T |
12: 80,245,846 (GRCm39) |
|
probably null |
Het |
Agbl3 |
T |
C |
6: 34,776,822 (GRCm39) |
Y443H |
probably benign |
Het |
Akap13 |
T |
A |
7: 75,316,279 (GRCm39) |
D578E |
probably benign |
Het |
Aldoa |
A |
T |
7: 126,395,207 (GRCm39) |
H292Q |
probably benign |
Het |
Als2 |
T |
C |
1: 59,254,775 (GRCm39) |
K194R |
possibly damaging |
Het |
Bivm |
C |
A |
1: 44,168,451 (GRCm39) |
H244N |
probably damaging |
Het |
Cabp5 |
G |
A |
7: 13,139,412 (GRCm39) |
E146K |
probably damaging |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Cfap251 |
A |
C |
5: 123,418,052 (GRCm39) |
|
probably benign |
Het |
Clcn4 |
A |
G |
7: 7,297,035 (GRCm39) |
V129A |
probably benign |
Het |
Clec4g |
A |
G |
8: 3,769,482 (GRCm39) |
S54P |
probably damaging |
Het |
Crim1 |
G |
T |
17: 78,654,658 (GRCm39) |
V645L |
probably damaging |
Het |
Csta1 |
T |
C |
16: 35,945,421 (GRCm39) |
T31A |
probably damaging |
Het |
D930048N14Rik |
T |
C |
11: 51,544,610 (GRCm39) |
|
probably benign |
Het |
Dhx34 |
G |
T |
7: 15,950,181 (GRCm39) |
P329Q |
probably damaging |
Het |
Dusp16 |
T |
C |
6: 134,702,912 (GRCm39) |
N193S |
probably benign |
Het |
Fbn1 |
A |
G |
2: 125,236,696 (GRCm39) |
|
probably benign |
Het |
Fbxo46 |
A |
G |
7: 18,870,728 (GRCm39) |
Y449C |
probably damaging |
Het |
Fmo4 |
C |
A |
1: 162,637,354 (GRCm39) |
|
probably null |
Het |
Foxi3 |
C |
A |
6: 70,937,729 (GRCm39) |
N320K |
probably damaging |
Het |
Gm9964 |
A |
G |
11: 79,187,210 (GRCm39) |
L79P |
unknown |
Het |
Gpr161 |
T |
C |
1: 165,134,149 (GRCm39) |
I137T |
probably damaging |
Het |
Herc1 |
C |
T |
9: 66,376,457 (GRCm39) |
Q3426* |
probably null |
Het |
Hps5 |
C |
T |
7: 46,437,751 (GRCm39) |
R108H |
probably benign |
Het |
Itch |
T |
A |
2: 155,048,256 (GRCm39) |
V540E |
probably damaging |
Het |
L3mbtl1 |
C |
A |
2: 162,807,925 (GRCm39) |
P520H |
probably damaging |
Het |
Mvp |
A |
G |
7: 126,588,859 (GRCm39) |
V636A |
probably benign |
Het |
Odf4 |
A |
G |
11: 68,812,778 (GRCm39) |
|
probably benign |
Het |
Or7g18 |
A |
G |
9: 18,787,538 (GRCm39) |
K305R |
probably benign |
Het |
Pld1 |
T |
C |
3: 28,142,816 (GRCm39) |
S675P |
probably benign |
Het |
Plod3 |
A |
G |
5: 137,019,090 (GRCm39) |
D325G |
probably benign |
Het |
Prss12 |
T |
C |
3: 123,276,388 (GRCm39) |
V339A |
possibly damaging |
Het |
Ptpn13 |
T |
A |
5: 103,689,180 (GRCm39) |
L991Q |
probably null |
Het |
Ptpn3 |
T |
A |
4: 57,240,833 (GRCm39) |
I261F |
probably damaging |
Het |
Rab3gap1 |
T |
C |
1: 127,858,124 (GRCm39) |
|
probably benign |
Het |
Rasa4 |
A |
G |
5: 136,130,847 (GRCm39) |
R373G |
possibly damaging |
Het |
Rmi1 |
T |
C |
13: 58,557,208 (GRCm39) |
S486P |
probably damaging |
Het |
Slc25a23 |
A |
G |
17: 57,354,233 (GRCm39) |
I139T |
probably benign |
Het |
Sspo |
T |
A |
6: 48,467,059 (GRCm39) |
S4017T |
probably benign |
Het |
Tnc |
T |
C |
4: 63,918,317 (GRCm39) |
Q1198R |
probably damaging |
Het |
Tnni3k |
G |
T |
3: 154,645,320 (GRCm39) |
Q522K |
possibly damaging |
Het |
Trio |
T |
A |
15: 27,773,093 (GRCm39) |
E713V |
probably damaging |
Het |
Ugt2b34 |
C |
A |
5: 87,041,679 (GRCm39) |
V338F |
probably damaging |
Het |
Usp40 |
T |
A |
1: 87,890,187 (GRCm39) |
M892L |
probably benign |
Het |
Usp54 |
A |
T |
14: 20,636,225 (GRCm39) |
|
probably benign |
Het |
Vmn2r53 |
T |
C |
7: 12,334,835 (GRCm39) |
E275G |
possibly damaging |
Het |
Vmn2r87 |
A |
G |
10: 130,333,247 (GRCm39) |
M1T |
probably null |
Het |
Wdr83os |
A |
T |
8: 85,808,476 (GRCm39) |
D76V |
probably damaging |
Het |
|
Other mutations in Tcaf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-06-21 |