Incidental Mutation 'R0357:Tcaf3'
| ID |
29875 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcaf3
|
| Ensembl Gene |
ENSMUSG00000018656 |
| Gene Name |
TRPM8 channel-associated factor 3 |
| Synonyms |
Eapa2, Fam115e |
| MMRRC Submission |
038563-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R0357 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
42564147-42574306 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 42566761 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 776
(Y776F)
|
| 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: Y776F
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000064060
Gene: ENSMUSG00000018656
AA Change: Y776F
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151898
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 95.3%
- 20x: 89.3%
|
| Validation Efficiency |
99% (74/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf2 |
T |
C |
5: 24,778,463 (GRCm39) |
K232E |
probably benign |
Het |
| AI837181 |
C |
T |
19: 5,476,731 (GRCm39) |
T298I |
possibly damaging |
Het |
| Alox12 |
T |
C |
11: 70,133,362 (GRCm39) |
Y614C |
probably damaging |
Het |
| Amn |
A |
T |
12: 111,240,575 (GRCm39) |
|
probably null |
Het |
| Ankrd33b |
A |
G |
15: 31,305,272 (GRCm39) |
S121P |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,131,675 (GRCm39) |
Y1028C |
probably damaging |
Het |
| Asph |
C |
A |
4: 9,453,314 (GRCm39) |
R736L |
probably benign |
Het |
| Atp2a3 |
G |
A |
11: 72,861,757 (GRCm39) |
|
probably null |
Het |
| Cables2 |
T |
C |
2: 179,904,025 (GRCm39) |
|
probably benign |
Het |
| Catsperg2 |
A |
T |
7: 29,414,326 (GRCm39) |
Y360N |
possibly damaging |
Het |
| Cdh4 |
T |
C |
2: 179,489,133 (GRCm39) |
S282P |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,719,064 (GRCm39) |
|
probably benign |
Het |
| Ctso |
A |
T |
3: 81,858,850 (GRCm39) |
|
probably benign |
Het |
| Cyp4f13 |
A |
T |
17: 33,151,625 (GRCm39) |
Y125* |
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,877,372 (GRCm39) |
L537* |
probably null |
Het |
| Ddit4l |
G |
A |
3: 137,331,946 (GRCm39) |
R104Q |
probably benign |
Het |
| Def6 |
C |
T |
17: 28,442,909 (GRCm39) |
H322Y |
probably damaging |
Het |
| Dnaaf9 |
A |
T |
2: 130,554,866 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,165,342 (GRCm39) |
N588D |
probably benign |
Het |
| Dzip1 |
T |
A |
14: 119,146,950 (GRCm39) |
I320F |
probably damaging |
Het |
| Epb41l5 |
T |
C |
1: 119,536,934 (GRCm39) |
H319R |
probably damaging |
Het |
| Erc2 |
A |
G |
14: 27,498,979 (GRCm39) |
E285G |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 38,945,376 (GRCm39) |
G1423E |
probably damaging |
Het |
| Foxp2 |
C |
T |
6: 15,409,839 (GRCm39) |
P480S |
probably damaging |
Het |
| Gadd45gip1 |
G |
A |
8: 85,560,762 (GRCm39) |
A126T |
probably damaging |
Het |
| Gbp5 |
G |
A |
3: 142,211,172 (GRCm39) |
D301N |
probably benign |
Het |
| Gm10360 |
T |
C |
6: 70,401,297 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6471 |
T |
A |
7: 142,387,604 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8674 |
T |
A |
13: 50,056,149 (GRCm39) |
|
noncoding transcript |
Het |
| H2bc18 |
A |
C |
3: 96,177,104 (GRCm39) |
K13Q |
probably null |
Het |
| Ift172 |
A |
G |
5: 31,415,244 (GRCm39) |
S1322P |
possibly damaging |
Het |
| Ift80 |
A |
T |
3: 68,821,986 (GRCm39) |
Y686* |
probably null |
Het |
| Insrr |
A |
C |
3: 87,715,953 (GRCm39) |
|
probably null |
Het |
| Itprid1 |
T |
A |
6: 55,945,019 (GRCm39) |
M580K |
probably benign |
Het |
| Krt87 |
C |
T |
15: 101,384,900 (GRCm39) |
V399M |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,351,776 (GRCm39) |
N3708S |
probably damaging |
Het |
| Matcap1 |
A |
T |
8: 106,011,699 (GRCm39) |
V222E |
probably damaging |
Het |
| Mogat1 |
T |
C |
1: 78,488,677 (GRCm39) |
S27P |
probably benign |
Het |
| Mrgpra4 |
A |
T |
7: 47,631,574 (GRCm39) |
M9K |
probably benign |
Het |
| Mtus1 |
A |
T |
8: 41,536,563 (GRCm39) |
S384R |
possibly damaging |
Het |
| Myo1a |
T |
A |
10: 127,546,771 (GRCm39) |
M306K |
probably benign |
Het |
| Noxa1 |
G |
T |
2: 24,975,862 (GRCm39) |
D403E |
probably damaging |
Het |
| Ogdhl |
T |
C |
14: 32,068,415 (GRCm39) |
V884A |
possibly damaging |
Het |
| Or10ak12 |
A |
C |
4: 118,666,614 (GRCm39) |
L149R |
probably damaging |
Het |
| Or2y1f |
A |
G |
11: 49,184,613 (GRCm39) |
N155S |
probably damaging |
Het |
| Or6k4 |
T |
A |
1: 173,964,865 (GRCm39) |
L185* |
probably null |
Het |
| Or6n1 |
T |
C |
1: 173,916,675 (GRCm39) |
V23A |
possibly damaging |
Het |
| Paxip1 |
G |
A |
5: 27,963,621 (GRCm39) |
|
probably benign |
Het |
| Paxx |
T |
A |
2: 25,350,079 (GRCm39) |
E145D |
probably damaging |
Het |
| Pde4d |
T |
C |
13: 110,087,802 (GRCm39) |
V560A |
possibly damaging |
Het |
| Pheta2 |
C |
T |
15: 82,227,517 (GRCm39) |
A12V |
probably damaging |
Het |
| Plxnd1 |
C |
T |
6: 115,946,421 (GRCm39) |
V847M |
probably benign |
Het |
| Polk |
T |
A |
13: 96,641,105 (GRCm39) |
M151L |
probably damaging |
Het |
| Ptprq |
C |
T |
10: 107,522,060 (GRCm39) |
|
probably benign |
Het |
| Pum2 |
A |
G |
12: 8,771,785 (GRCm39) |
Q371R |
possibly damaging |
Het |
| Reln |
G |
A |
5: 22,155,820 (GRCm39) |
A2224V |
probably damaging |
Het |
| Rmc1 |
T |
C |
18: 12,312,266 (GRCm39) |
S169P |
possibly damaging |
Het |
| Scart1 |
T |
G |
7: 139,807,808 (GRCm39) |
C660G |
probably damaging |
Het |
| Shroom1 |
A |
G |
11: 53,356,035 (GRCm39) |
T362A |
probably damaging |
Het |
| Smarcd2 |
A |
G |
11: 106,158,158 (GRCm39) |
|
probably null |
Het |
| Spg11 |
A |
C |
2: 121,896,713 (GRCm39) |
|
probably benign |
Het |
| Thada |
A |
G |
17: 84,538,364 (GRCm39) |
V1548A |
probably damaging |
Het |
| Trpv2 |
C |
T |
11: 62,481,130 (GRCm39) |
P410S |
probably damaging |
Het |
| Ube2u |
G |
T |
4: 100,338,851 (GRCm39) |
E39* |
probably null |
Het |
| Ulbp3 |
A |
T |
10: 3,070,307 (GRCm39) |
|
noncoding transcript |
Het |
| Ulbp3 |
A |
G |
10: 3,075,788 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r2 |
C |
T |
3: 64,041,320 (GRCm39) |
|
probably null |
Het |
| Vmn2r24 |
TCC |
TC |
6: 123,792,369 (GRCm39) |
|
probably null |
Het |
| Wdr87-ps |
A |
T |
7: 29,235,007 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp110 |
A |
G |
7: 12,570,302 (GRCm39) |
Y43C |
probably damaging |
Het |
| Zfp605 |
A |
G |
5: 110,272,245 (GRCm39) |
T55A |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAAGTCTGCTGGTTCCAGTCTC -3'
(R):5'- TCACAGTGAAACGCAGATAGGCATC -3'
Sequencing Primer
(F):5'- CAGTCTCCCTGAATATATACACGG -3'
(R):5'- GTAGAGCCCATGTGAACTTACTC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation