Incidental Mutation 'IGL01391:Tcaf3'
| ID |
79220 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tcaf3
|
| Ensembl Gene |
ENSMUSG00000018656 |
| Gene Name |
TRPM8 channel-associated factor 3 |
| Synonyms |
Eapa2, Fam115e |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
IGL01391
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
42564147-42574306 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 42570615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 379
(Y379C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069023]
[ENSMUST00000134707]
|
| AlphaFold |
Q6QR59 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069023
AA Change: Y379C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064060
Gene: ENSMUSG00000018656
AA Change: Y379C
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
26 |
194 |
9.98e-16 |
PROSPERO |
|
low complexity region
|
210 |
221 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
234 |
402 |
9.98e-16 |
PROSPERO |
|
low complexity region
|
509 |
518 |
N/A |
INTRINSIC |
|
M60-like
|
533 |
832 |
3.49e-130 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134707
|
| SMART Domains |
Protein: ENSMUSP00000123321
Gene: ENSMUSG00000018656
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
210 |
221 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3m2 |
T |
A |
8: 23,289,663 (GRCm39) |
I147F |
probably benign |
Het |
| Areg |
T |
A |
5: 91,288,954 (GRCm39) |
S87T |
probably damaging |
Het |
| Arid1b |
T |
A |
17: 5,369,133 (GRCm39) |
|
probably benign |
Het |
| Arl6ip6 |
A |
G |
2: 53,082,156 (GRCm39) |
R8G |
probably benign |
Het |
| Brms1 |
A |
G |
19: 5,096,723 (GRCm39) |
E135G |
possibly damaging |
Het |
| Ccser1 |
A |
G |
6: 61,615,505 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
A |
T |
9: 106,784,433 (GRCm39) |
M258K |
possibly damaging |
Het |
| Epb41l4a |
T |
G |
18: 33,934,678 (GRCm39) |
D562A |
possibly damaging |
Het |
| Etaa1 |
G |
A |
11: 17,896,005 (GRCm39) |
T704I |
probably damaging |
Het |
| Fer1l4 |
T |
A |
2: 155,878,376 (GRCm39) |
H972L |
probably damaging |
Het |
| Foxn1 |
A |
G |
11: 78,252,320 (GRCm39) |
M356T |
probably damaging |
Het |
| Gfral |
C |
A |
9: 76,072,107 (GRCm39) |
G388* |
probably null |
Het |
| Gm12258 |
A |
G |
11: 58,739,520 (GRCm39) |
T3A |
probably benign |
Het |
| Hoxa5 |
T |
C |
6: 52,181,311 (GRCm39) |
N7S |
probably damaging |
Het |
| Itgb4 |
T |
C |
11: 115,881,746 (GRCm39) |
L765P |
probably damaging |
Het |
| Jchain |
C |
T |
5: 88,669,383 (GRCm39) |
C90Y |
probably damaging |
Het |
| Klhl40 |
A |
G |
9: 121,607,983 (GRCm39) |
Y381C |
probably damaging |
Het |
| Lhx6 |
A |
T |
2: 35,993,477 (GRCm39) |
C74S |
probably benign |
Het |
| Magel2 |
A |
G |
7: 62,030,632 (GRCm39) |
S1179G |
unknown |
Het |
| Mapre3 |
T |
C |
5: 31,022,241 (GRCm39) |
I236T |
probably damaging |
Het |
| Mcf2l |
A |
T |
8: 13,064,010 (GRCm39) |
|
probably null |
Het |
| Med13 |
A |
T |
11: 86,219,323 (GRCm39) |
H374Q |
probably benign |
Het |
| Meioc |
A |
G |
11: 102,565,113 (GRCm39) |
Y187C |
probably benign |
Het |
| Myh1 |
G |
A |
11: 67,108,689 (GRCm39) |
M1368I |
probably benign |
Het |
| Or14a258 |
A |
T |
7: 86,035,208 (GRCm39) |
I220N |
possibly damaging |
Het |
| Or8b54 |
A |
G |
9: 38,686,826 (GRCm39) |
I92V |
probably damaging |
Het |
| Phrf1 |
T |
C |
7: 140,842,394 (GRCm39) |
Y1501H |
probably damaging |
Het |
| Pigb |
T |
C |
9: 72,929,573 (GRCm39) |
T337A |
probably damaging |
Het |
| Pls1 |
T |
C |
9: 95,655,751 (GRCm39) |
K334E |
probably benign |
Het |
| Pramel51 |
C |
T |
12: 88,145,225 (GRCm39) |
V34I |
possibly damaging |
Het |
| Rab3b |
T |
C |
4: 108,797,999 (GRCm39) |
C226R |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,571,571 (GRCm39) |
I4889N |
possibly damaging |
Het |
| Serpinb1a |
G |
A |
13: 33,029,398 (GRCm39) |
S210L |
probably benign |
Het |
| Slc52a3 |
A |
G |
2: 151,849,522 (GRCm39) |
I390V |
probably benign |
Het |
| Slc6a7 |
C |
A |
18: 61,136,382 (GRCm39) |
A340S |
probably damaging |
Het |
| Tex261 |
A |
G |
6: 83,748,222 (GRCm39) |
V180A |
probably benign |
Het |
| Tnnt1 |
C |
T |
7: 4,517,211 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,798,847 (GRCm39) |
T476A |
possibly damaging |
Het |
| Vcan |
A |
G |
13: 89,852,288 (GRCm39) |
S891P |
probably benign |
Het |
| Vmn2r16 |
T |
A |
5: 109,511,627 (GRCm39) |
D611E |
possibly damaging |
Het |
| Vmn2r68 |
T |
C |
7: 84,886,819 (GRCm39) |
T32A |
probably benign |
Het |
| Vwde |
T |
G |
6: 13,190,526 (GRCm39) |
S522R |
probably benign |
Het |
| Wdr3 |
G |
A |
3: 100,054,105 (GRCm39) |
|
probably benign |
Het |
| Wfs1 |
G |
T |
5: 37,128,907 (GRCm39) |
Q288K |
probably benign |
Het |
| Zfp142 |
A |
G |
1: 74,618,699 (GRCm39) |
V120A |
probably damaging |
Het |
| Zfp672 |
A |
G |
11: 58,208,192 (GRCm39) |
F43S |
probably damaging |
Het |
| Znhit3 |
A |
T |
11: 84,802,283 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tcaf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Tcaf3
|
APN |
6 |
42,570,319 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL00931:Tcaf3
|
APN |
6 |
42,574,162 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01804:Tcaf3
|
APN |
6 |
42,574,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02272:Tcaf3
|
APN |
6 |
42,573,594 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02934:Tcaf3
|
APN |
6 |
42,570,832 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03258:Tcaf3
|
APN |
6 |
42,566,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
defused
|
UTSW |
6 |
42,573,867 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0116:Tcaf3
|
UTSW |
6 |
42,568,284 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0135:Tcaf3
|
UTSW |
6 |
42,566,692 (GRCm39) |
missense |
probably benign |
|
|
R0357:Tcaf3
|
UTSW |
6 |
42,566,761 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0526:Tcaf3
|
UTSW |
6 |
42,566,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0592:Tcaf3
|
UTSW |
6 |
42,573,777 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1185:Tcaf3
|
UTSW |
6 |
42,568,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1185:Tcaf3
|
UTSW |
6 |
42,568,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1185:Tcaf3
|
UTSW |
6 |
42,568,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1902:Tcaf3
|
UTSW |
6 |
42,570,486 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1912:Tcaf3
|
UTSW |
6 |
42,573,622 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R2020:Tcaf3
|
UTSW |
6 |
42,570,658 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2238:Tcaf3
|
UTSW |
6 |
42,570,262 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2259:Tcaf3
|
UTSW |
6 |
42,568,364 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2436:Tcaf3
|
UTSW |
6 |
42,570,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3005:Tcaf3
|
UTSW |
6 |
42,570,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3402:Tcaf3
|
UTSW |
6 |
42,570,787 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3753:Tcaf3
|
UTSW |
6 |
42,566,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3799:Tcaf3
|
UTSW |
6 |
42,574,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4515:Tcaf3
|
UTSW |
6 |
42,566,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4640:Tcaf3
|
UTSW |
6 |
42,564,513 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4688:Tcaf3
|
UTSW |
6 |
42,570,300 (GRCm39) |
splice site |
probably null |
|
|
R4904:Tcaf3
|
UTSW |
6 |
42,570,931 (GRCm39) |
nonsense |
probably null |
|
|
R5030:Tcaf3
|
UTSW |
6 |
42,573,867 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5031:Tcaf3
|
UTSW |
6 |
42,573,867 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5045:Tcaf3
|
UTSW |
6 |
42,570,618 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5105:Tcaf3
|
UTSW |
6 |
42,568,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5139:Tcaf3
|
UTSW |
6 |
42,573,867 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5187:Tcaf3
|
UTSW |
6 |
42,573,954 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5196:Tcaf3
|
UTSW |
6 |
42,570,649 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5213:Tcaf3
|
UTSW |
6 |
42,568,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5296:Tcaf3
|
UTSW |
6 |
42,564,444 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5402:Tcaf3
|
UTSW |
6 |
42,568,860 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5425:Tcaf3
|
UTSW |
6 |
42,573,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5431:Tcaf3
|
UTSW |
6 |
42,574,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5601:Tcaf3
|
UTSW |
6 |
42,564,462 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5839:Tcaf3
|
UTSW |
6 |
42,570,783 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5865:Tcaf3
|
UTSW |
6 |
42,573,631 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6005:Tcaf3
|
UTSW |
6 |
42,566,905 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6270:Tcaf3
|
UTSW |
6 |
42,570,725 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6341:Tcaf3
|
UTSW |
6 |
42,574,193 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6344:Tcaf3
|
UTSW |
6 |
42,574,105 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6521:Tcaf3
|
UTSW |
6 |
42,570,172 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6589:Tcaf3
|
UTSW |
6 |
42,570,995 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6981:Tcaf3
|
UTSW |
6 |
42,574,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7155:Tcaf3
|
UTSW |
6 |
42,570,825 (GRCm39) |
missense |
probably benign |
|
|
R7185:Tcaf3
|
UTSW |
6 |
42,570,864 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7262:Tcaf3
|
UTSW |
6 |
42,570,735 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7340:Tcaf3
|
UTSW |
6 |
42,566,848 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7421:Tcaf3
|
UTSW |
6 |
42,573,776 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7690:Tcaf3
|
UTSW |
6 |
42,574,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7850:Tcaf3
|
UTSW |
6 |
42,571,140 (GRCm39) |
splice site |
probably null |
|
|
R7909:Tcaf3
|
UTSW |
6 |
42,568,898 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9419:Tcaf3
|
UTSW |
6 |
42,573,716 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9440:Tcaf3
|
UTSW |
6 |
42,573,906 (GRCm39) |
nonsense |
probably null |
|
|
R9469:Tcaf3
|
UTSW |
6 |
42,573,828 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9668:Tcaf3
|
UTSW |
6 |
42,566,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9787:Tcaf3
|
UTSW |
6 |
42,574,024 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-11-05 |
Incidental Mutation