Incidental Mutation 'IGL02504:Tcaf1'
| ID |
296224 |
| 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 # |
IGL02504
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
42644936-42687022 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 42656213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 254
(H254Q)
|
| 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: H254Q
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000046137
Gene: ENSMUSG00000036667
AA Change: H254Q
| 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: H254Q
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000036379
Gene: ENSMUSG00000036667
AA Change: H254Q
| 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: H254Q
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000114036
Gene: ENSMUSG00000036667
AA Change: H254Q
| 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: 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 |
|---|
| Ago4 |
T |
A |
4: 126,411,232 (GRCm39) |
N142I |
probably benign |
Het |
| Asf1b |
A |
G |
8: 84,682,458 (GRCm39) |
M1V |
probably null |
Het |
| Astn1 |
T |
C |
1: 158,329,978 (GRCm39) |
C278R |
probably damaging |
Het |
| Ccdc162 |
A |
T |
10: 41,428,384 (GRCm39) |
L692Q |
probably damaging |
Het |
| Cd207 |
T |
A |
6: 83,654,788 (GRCm39) |
|
probably benign |
Het |
| Chd5 |
T |
A |
4: 152,447,779 (GRCm39) |
N548K |
probably damaging |
Het |
| Col7a1 |
G |
A |
9: 108,809,743 (GRCm39) |
G2659D |
unknown |
Het |
| Cpa6 |
A |
T |
1: 10,559,144 (GRCm39) |
Y75N |
probably benign |
Het |
| Cspg4 |
G |
T |
9: 56,793,056 (GRCm39) |
V264L |
probably benign |
Het |
| Cyp3a25 |
T |
A |
5: 145,930,141 (GRCm39) |
I155L |
probably benign |
Het |
| Dock6 |
A |
G |
9: 21,757,951 (GRCm39) |
I51T |
probably benign |
Het |
| Dse |
G |
T |
10: 34,028,796 (GRCm39) |
Q765K |
probably benign |
Het |
| Fam219b |
A |
T |
9: 57,445,351 (GRCm39) |
M87L |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,871,094 (GRCm39) |
R3766C |
probably damaging |
Het |
| Fcnb |
A |
C |
2: 27,966,606 (GRCm39) |
M309R |
probably damaging |
Het |
| Fnbp4 |
C |
A |
2: 90,598,887 (GRCm39) |
N670K |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,809,199 (GRCm39) |
N1839K |
possibly damaging |
Het |
| G6pc2 |
A |
G |
2: 69,056,939 (GRCm39) |
H195R |
probably damaging |
Het |
| Gm14179 |
A |
T |
11: 99,634,003 (GRCm39) |
|
|
Het |
| Grm5 |
A |
G |
7: 87,779,980 (GRCm39) |
N1172S |
probably benign |
Het |
| Hsd17b14 |
A |
G |
7: 45,205,799 (GRCm39) |
T64A |
possibly damaging |
Het |
| Hspb7 |
G |
T |
4: 141,149,131 (GRCm39) |
E12D |
probably benign |
Het |
| Kdm2a |
T |
C |
19: 4,406,799 (GRCm39) |
N155D |
possibly damaging |
Het |
| Klhl24 |
A |
T |
16: 19,934,693 (GRCm39) |
R389* |
probably null |
Het |
| Kmt2b |
A |
G |
7: 30,285,968 (GRCm39) |
|
probably benign |
Het |
| Krt4 |
T |
A |
15: 101,827,727 (GRCm39) |
I469F |
unknown |
Het |
| Mto1 |
A |
T |
9: 78,368,209 (GRCm39) |
D451V |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,400,177 (GRCm39) |
D477V |
unknown |
Het |
| Pcsk5 |
A |
G |
19: 17,455,236 (GRCm39) |
|
probably null |
Het |
| Ppil4 |
T |
A |
10: 7,696,748 (GRCm39) |
Y420* |
probably null |
Het |
| Ppp2r5d |
A |
T |
17: 47,011,019 (GRCm39) |
D27E |
probably benign |
Het |
| Prkd2 |
T |
C |
7: 16,591,757 (GRCm39) |
L596P |
probably damaging |
Het |
| Prr30 |
T |
C |
14: 101,436,056 (GRCm39) |
I169V |
probably benign |
Het |
| Rtl9 |
A |
T |
X: 141,885,287 (GRCm39) |
T900S |
probably benign |
Het |
| Sash1 |
A |
G |
10: 8,605,676 (GRCm39) |
S905P |
probably benign |
Het |
| Scn2a |
G |
A |
2: 65,514,228 (GRCm39) |
G304D |
probably benign |
Het |
| Scp2d1 |
T |
C |
2: 144,665,877 (GRCm39) |
L72P |
probably damaging |
Het |
| Septin2 |
T |
A |
1: 93,428,203 (GRCm39) |
H166Q |
probably benign |
Het |
| Sgcb |
A |
G |
5: 73,801,718 (GRCm39) |
I49T |
probably damaging |
Het |
| Smyd4 |
T |
A |
11: 75,281,507 (GRCm39) |
W327R |
probably damaging |
Het |
| Sptbn1 |
C |
T |
11: 30,092,293 (GRCm39) |
E491K |
probably damaging |
Het |
| Tll1 |
A |
C |
8: 64,523,271 (GRCm39) |
D480E |
possibly damaging |
Het |
| Tlr3 |
G |
A |
8: 45,850,944 (GRCm39) |
T127M |
probably damaging |
Het |
| Trio |
A |
T |
15: 27,847,476 (GRCm39) |
C929* |
probably null |
Het |
| Ttn |
C |
T |
2: 76,628,494 (GRCm39) |
W12809* |
probably null |
Het |
| Ugt2b35 |
T |
A |
5: 87,149,400 (GRCm39) |
M217K |
possibly damaging |
Het |
| Unc13b |
T |
C |
4: 43,263,031 (GRCm39) |
V4261A |
probably damaging |
Het |
| Uqcrc2 |
T |
C |
7: 120,242,254 (GRCm39) |
I82T |
probably benign |
Het |
| Usp21 |
A |
G |
1: 171,112,596 (GRCm39) |
I266T |
probably benign |
Het |
| Veph1 |
A |
T |
3: 66,079,551 (GRCm39) |
H321Q |
probably damaging |
Het |
| Vmn1r29 |
A |
C |
6: 58,284,655 (GRCm39) |
Y125S |
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 |
|
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 |
Incidental Mutation