Incidental Mutation 'IGL02934:Tcaf3'
| ID |
364210 |
| 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 # |
IGL02934
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
42564147-42574306 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 42570832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 307
(M307L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069023]
[ENSMUST00000134707]
|
| AlphaFold |
Q6QR59 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069023
AA Change: M307L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000064060
Gene: ENSMUSG00000018656
AA Change: M307L
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
T |
3: 121,956,008 (GRCm39) |
R716* |
probably null |
Het |
| Abca8a |
A |
T |
11: 109,931,414 (GRCm39) |
N1246K |
probably damaging |
Het |
| Acadl |
A |
G |
1: 66,876,134 (GRCm39) |
Y396H |
probably benign |
Het |
| Apol7c |
A |
T |
15: 77,410,318 (GRCm39) |
S209R |
possibly damaging |
Het |
| Atp1a1 |
A |
T |
3: 101,484,308 (GRCm39) |
C990* |
probably null |
Het |
| Cachd1 |
C |
T |
4: 100,825,295 (GRCm39) |
S583L |
probably damaging |
Het |
| Cbfa2t3 |
T |
C |
8: 123,374,497 (GRCm39) |
T48A |
probably benign |
Het |
| Ccdc138 |
G |
T |
10: 58,409,402 (GRCm39) |
|
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,970,112 (GRCm39) |
E2231G |
probably damaging |
Het |
| Cog3 |
T |
C |
14: 75,979,129 (GRCm39) |
I206V |
probably damaging |
Het |
| Cr2 |
A |
G |
1: 194,836,633 (GRCm39) |
|
probably benign |
Het |
| Ctdspl2 |
T |
C |
2: 121,809,490 (GRCm39) |
V147A |
probably damaging |
Het |
| Cyp4f13 |
A |
G |
17: 33,148,845 (GRCm39) |
V300A |
probably damaging |
Het |
| Dkk3 |
A |
T |
7: 111,749,954 (GRCm39) |
M72K |
probably damaging |
Het |
| Dock3 |
A |
T |
9: 106,900,944 (GRCm39) |
F340L |
probably benign |
Het |
| Fut1 |
A |
G |
7: 45,268,127 (GRCm39) |
H27R |
possibly damaging |
Het |
| Igkv4-80 |
A |
G |
6: 68,993,840 (GRCm39) |
V17A |
probably benign |
Het |
| Igkv9-123 |
G |
A |
6: 67,931,380 (GRCm39) |
P62L |
possibly damaging |
Het |
| Kmt2e |
T |
C |
5: 23,702,882 (GRCm39) |
S1021P |
probably damaging |
Het |
| Krt13 |
A |
C |
11: 100,009,910 (GRCm39) |
L320R |
probably damaging |
Het |
| Ldhal6b |
T |
C |
17: 5,467,819 (GRCm39) |
T372A |
probably benign |
Het |
| Manba |
T |
C |
3: 135,250,510 (GRCm39) |
V379A |
probably benign |
Het |
| Map1b |
C |
T |
13: 99,571,639 (GRCm39) |
V361I |
probably benign |
Het |
| Map4k1 |
A |
G |
7: 28,693,531 (GRCm39) |
S399G |
probably benign |
Het |
| Mff |
G |
A |
1: 82,724,815 (GRCm39) |
R229H |
probably damaging |
Het |
| Naga |
T |
C |
15: 82,214,401 (GRCm39) |
N370S |
possibly damaging |
Het |
| Ncor2 |
A |
T |
5: 125,102,621 (GRCm39) |
M2045K |
probably benign |
Het |
| Nipal1 |
T |
C |
5: 72,805,250 (GRCm39) |
L7P |
probably damaging |
Het |
| Or10p22 |
T |
A |
10: 128,825,958 (GRCm39) |
M59K |
probably damaging |
Het |
| Pcmt1 |
A |
T |
10: 7,516,491 (GRCm39) |
M187K |
probably benign |
Het |
| Perp |
A |
T |
10: 18,731,520 (GRCm39) |
T160S |
probably damaging |
Het |
| Rapgef6 |
G |
A |
11: 54,516,690 (GRCm39) |
D169N |
probably damaging |
Het |
| Sel1l |
G |
A |
12: 91,776,710 (GRCm39) |
Q711* |
probably null |
Het |
| Septin5 |
T |
C |
16: 18,448,581 (GRCm39) |
Y7C |
probably damaging |
Het |
| Spdya |
A |
T |
17: 71,863,395 (GRCm39) |
N48I |
probably benign |
Het |
| Stard6 |
T |
A |
18: 70,629,175 (GRCm39) |
|
probably benign |
Het |
| Sytl2 |
T |
C |
7: 90,025,200 (GRCm39) |
V396A |
probably benign |
Het |
| Tdrd6 |
T |
C |
17: 43,938,778 (GRCm39) |
N757D |
probably benign |
Het |
| Tgm1 |
T |
A |
14: 55,947,446 (GRCm39) |
D305V |
probably damaging |
Het |
| Themis2 |
T |
A |
4: 132,516,862 (GRCm39) |
M213L |
probably damaging |
Het |
| Tmem184c |
A |
G |
8: 78,324,449 (GRCm39) |
V347A |
probably damaging |
Het |
| Tmem214 |
A |
G |
5: 31,028,888 (GRCm39) |
E159G |
probably benign |
Het |
| Trim58 |
C |
T |
11: 58,531,292 (GRCm39) |
|
probably benign |
Het |
| Tshz1 |
A |
T |
18: 84,031,215 (GRCm39) |
S1064R |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,268,266 (GRCm39) |
E983K |
possibly damaging |
Het |
| Vmn1r23 |
A |
T |
6: 57,902,914 (GRCm39) |
I288N |
probably benign |
Het |
| Vmn2r97 |
T |
C |
17: 19,149,947 (GRCm39) |
V445A |
probably benign |
Het |
| Whrn |
G |
A |
4: 63,334,342 (GRCm39) |
T813M |
probably damaging |
Het |
| Xirp2 |
C |
T |
2: 67,346,020 (GRCm39) |
H2754Y |
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 |
|
IGL01391:Tcaf3
|
APN |
6 |
42,570,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation