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 |
42584866-42597692 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 42589827 bp (GRCm38)
|
| 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: 24,573,465 (GRCm38) |
K232E |
probably benign |
Het |
| AI837181 |
C |
T |
19: 5,426,703 (GRCm38) |
T298I |
possibly damaging |
Het |
| Alox12 |
T |
C |
11: 70,242,536 (GRCm38) |
Y614C |
probably damaging |
Het |
| Amn |
A |
T |
12: 111,274,141 (GRCm38) |
|
probably null |
Het |
| Ankrd33b |
A |
G |
15: 31,305,126 (GRCm38) |
S121P |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,092,516 (GRCm38) |
Y1028C |
probably damaging |
Het |
| Asph |
C |
A |
4: 9,453,314 (GRCm38) |
R736L |
probably benign |
Het |
| Atp2a3 |
G |
A |
11: 72,970,931 (GRCm38) |
|
probably null |
Het |
| Cables2 |
T |
C |
2: 180,262,232 (GRCm38) |
|
probably benign |
Het |
| Catsperg2 |
A |
T |
7: 29,714,901 (GRCm38) |
Y360N |
possibly damaging |
Het |
| Cdh4 |
T |
C |
2: 179,847,340 (GRCm38) |
S282P |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,807,768 (GRCm38) |
|
probably benign |
Het |
| Ctso |
A |
T |
3: 81,951,543 (GRCm38) |
|
probably benign |
Het |
| Cyp4f13 |
A |
T |
17: 32,932,651 (GRCm38) |
Y125* |
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,729,558 (GRCm38) |
L537* |
probably null |
Het |
| Ddit4l |
G |
A |
3: 137,626,185 (GRCm38) |
R104Q |
probably benign |
Het |
| Def6 |
C |
T |
17: 28,223,935 (GRCm38) |
H322Y |
probably damaging |
Het |
| Dnaaf9 |
A |
T |
2: 130,712,946 (GRCm38) |
|
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,188,359 (GRCm38) |
N588D |
probably benign |
Het |
| Dzip1 |
T |
A |
14: 118,909,538 (GRCm38) |
I320F |
probably damaging |
Het |
| Epb41l5 |
T |
C |
1: 119,609,204 (GRCm38) |
H319R |
probably damaging |
Het |
| Erc2 |
A |
G |
14: 27,777,022 (GRCm38) |
E285G |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 38,891,227 (GRCm38) |
G1423E |
probably damaging |
Het |
| Foxp2 |
C |
T |
6: 15,409,840 (GRCm38) |
P480S |
probably damaging |
Het |
| Gadd45gip1 |
G |
A |
8: 84,834,133 (GRCm38) |
A126T |
probably damaging |
Het |
| Gbp5 |
G |
A |
3: 142,505,411 (GRCm38) |
D301N |
probably benign |
Het |
| Gm10360 |
T |
C |
6: 70,424,313 (GRCm38) |
|
noncoding transcript |
Het |
| Gm6471 |
T |
A |
7: 142,833,867 (GRCm38) |
|
noncoding transcript |
Het |
| Gm8674 |
T |
A |
13: 49,902,113 (GRCm38) |
|
noncoding transcript |
Het |
| H2bc18 |
A |
C |
3: 96,269,788 (GRCm38) |
K13Q |
probably null |
Het |
| Ift172 |
A |
G |
5: 31,257,900 (GRCm38) |
S1322P |
possibly damaging |
Het |
| Ift80 |
A |
T |
3: 68,914,653 (GRCm38) |
Y686* |
probably null |
Het |
| Insrr |
A |
C |
3: 87,808,646 (GRCm38) |
|
probably null |
Het |
| Itprid1 |
T |
A |
6: 55,968,034 (GRCm38) |
M580K |
probably benign |
Het |
| Krt83 |
C |
T |
15: 101,487,019 (GRCm38) |
V399M |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,457,983 (GRCm38) |
N3708S |
probably damaging |
Het |
| Matcap1 |
A |
T |
8: 105,285,067 (GRCm38) |
V222E |
probably damaging |
Het |
| Mogat1 |
T |
C |
1: 78,512,040 (GRCm38) |
S27P |
probably benign |
Het |
| Mrgpra4 |
A |
T |
7: 47,981,826 (GRCm38) |
M9K |
probably benign |
Het |
| Mtus1 |
A |
T |
8: 41,083,526 (GRCm38) |
S384R |
possibly damaging |
Het |
| Myo1a |
T |
A |
10: 127,710,902 (GRCm38) |
M306K |
probably benign |
Het |
| Noxa1 |
G |
T |
2: 25,085,850 (GRCm38) |
D403E |
probably damaging |
Het |
| Ogdhl |
T |
C |
14: 32,346,458 (GRCm38) |
V884A |
possibly damaging |
Het |
| Or10ak12 |
A |
C |
4: 118,809,417 (GRCm38) |
L149R |
probably damaging |
Het |
| Or2y1f |
A |
G |
11: 49,293,786 (GRCm38) |
N155S |
probably damaging |
Het |
| Or6k4 |
T |
A |
1: 174,137,299 (GRCm38) |
L185* |
probably null |
Het |
| Or6n1 |
T |
C |
1: 174,089,109 (GRCm38) |
V23A |
possibly damaging |
Het |
| Paxip1 |
G |
A |
5: 27,758,623 (GRCm38) |
|
probably benign |
Het |
| Paxx |
T |
A |
2: 25,460,067 (GRCm38) |
E145D |
probably damaging |
Het |
| Pde4d |
T |
C |
13: 109,951,268 (GRCm38) |
V560A |
possibly damaging |
Het |
| Pheta2 |
C |
T |
15: 82,343,316 (GRCm38) |
A12V |
probably damaging |
Het |
| Plxnd1 |
C |
T |
6: 115,969,460 (GRCm38) |
V847M |
probably benign |
Het |
| Polk |
T |
A |
13: 96,504,597 (GRCm38) |
M151L |
probably damaging |
Het |
| Ptprq |
C |
T |
10: 107,686,199 (GRCm38) |
|
probably benign |
Het |
| Pum2 |
A |
G |
12: 8,721,785 (GRCm38) |
Q371R |
possibly damaging |
Het |
| Reln |
G |
A |
5: 21,950,822 (GRCm38) |
A2224V |
probably damaging |
Het |
| Rmc1 |
T |
C |
18: 12,179,209 (GRCm38) |
S169P |
possibly damaging |
Het |
| Scart1 |
T |
G |
7: 140,227,895 (GRCm38) |
C660G |
probably damaging |
Het |
| Shroom1 |
A |
G |
11: 53,465,208 (GRCm38) |
T362A |
probably damaging |
Het |
| Smarcd2 |
A |
G |
11: 106,267,332 (GRCm38) |
|
probably null |
Het |
| Spg11 |
A |
C |
2: 122,066,232 (GRCm38) |
|
probably benign |
Het |
| Thada |
A |
G |
17: 84,230,936 (GRCm38) |
V1548A |
probably damaging |
Het |
| Trpv2 |
C |
T |
11: 62,590,304 (GRCm38) |
P410S |
probably damaging |
Het |
| Ube2u |
G |
T |
4: 100,481,654 (GRCm38) |
E39* |
probably null |
Het |
| Ulbp3 |
A |
G |
10: 3,125,788 (GRCm38) |
|
noncoding transcript |
Het |
| Ulbp3 |
A |
T |
10: 3,120,307 (GRCm38) |
|
noncoding transcript |
Het |
| Vmn2r2 |
C |
T |
3: 64,133,899 (GRCm38) |
|
probably null |
Het |
| Vmn2r24 |
TCC |
TC |
6: 123,815,410 (GRCm38) |
|
probably null |
Het |
| Wdr87-ps |
A |
T |
7: 29,535,582 (GRCm38) |
|
noncoding transcript |
Het |
| Zfp110 |
A |
G |
7: 12,836,375 (GRCm38) |
Y43C |
probably damaging |
Het |
| Zfp605 |
A |
G |
5: 110,124,379 (GRCm38) |
T55A |
probably benign |
Het |
|
| Other mutations in Tcaf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Tcaf3
|
APN |
6 |
42,593,385 (GRCm38) |
missense |
probably benign |
0.14 |
|
IGL00931:Tcaf3
|
APN |
6 |
42,597,228 (GRCm38) |
missense |
probably benign |
0.16 |
|
IGL01391:Tcaf3
|
APN |
6 |
42,593,681 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01804:Tcaf3
|
APN |
6 |
42,597,129 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02272:Tcaf3
|
APN |
6 |
42,596,660 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02934:Tcaf3
|
APN |
6 |
42,593,898 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03258:Tcaf3
|
APN |
6 |
42,589,839 (GRCm38) |
missense |
probably damaging |
1.00 |
|
defused
|
UTSW |
6 |
42,596,933 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0116:Tcaf3
|
UTSW |
6 |
42,591,350 (GRCm38) |
missense |
probably benign |
0.12 |
|
R0135:Tcaf3
|
UTSW |
6 |
42,589,758 (GRCm38) |
missense |
probably benign |
|
|
R0526:Tcaf3
|
UTSW |
6 |
42,589,804 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0592:Tcaf3
|
UTSW |
6 |
42,596,843 (GRCm38) |
missense |
probably benign |
0.16 |
|
R1185:Tcaf3
|
UTSW |
6 |
42,591,434 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1185:Tcaf3
|
UTSW |
6 |
42,591,434 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1185:Tcaf3
|
UTSW |
6 |
42,591,434 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1902:Tcaf3
|
UTSW |
6 |
42,593,552 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R1912:Tcaf3
|
UTSW |
6 |
42,596,688 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R2020:Tcaf3
|
UTSW |
6 |
42,593,724 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R2238:Tcaf3
|
UTSW |
6 |
42,593,328 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2259:Tcaf3
|
UTSW |
6 |
42,591,430 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R2436:Tcaf3
|
UTSW |
6 |
42,593,729 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3005:Tcaf3
|
UTSW |
6 |
42,594,044 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3402:Tcaf3
|
UTSW |
6 |
42,593,853 (GRCm38) |
missense |
probably benign |
0.08 |
|
R3753:Tcaf3
|
UTSW |
6 |
42,589,804 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3799:Tcaf3
|
UTSW |
6 |
42,597,080 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4515:Tcaf3
|
UTSW |
6 |
42,589,996 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4640:Tcaf3
|
UTSW |
6 |
42,587,579 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4688:Tcaf3
|
UTSW |
6 |
42,593,366 (GRCm38) |
splice site |
probably null |
|
|
R4904:Tcaf3
|
UTSW |
6 |
42,593,997 (GRCm38) |
nonsense |
probably null |
|
|
R5030:Tcaf3
|
UTSW |
6 |
42,596,933 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5031:Tcaf3
|
UTSW |
6 |
42,596,933 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5045:Tcaf3
|
UTSW |
6 |
42,593,684 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R5105:Tcaf3
|
UTSW |
6 |
42,591,325 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5139:Tcaf3
|
UTSW |
6 |
42,596,933 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5187:Tcaf3
|
UTSW |
6 |
42,597,020 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R5196:Tcaf3
|
UTSW |
6 |
42,593,715 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5213:Tcaf3
|
UTSW |
6 |
42,591,467 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5296:Tcaf3
|
UTSW |
6 |
42,587,510 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R5402:Tcaf3
|
UTSW |
6 |
42,591,926 (GRCm38) |
missense |
probably benign |
0.12 |
|
R5425:Tcaf3
|
UTSW |
6 |
42,596,763 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5431:Tcaf3
|
UTSW |
6 |
42,597,185 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5601:Tcaf3
|
UTSW |
6 |
42,587,528 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5839:Tcaf3
|
UTSW |
6 |
42,593,849 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R5865:Tcaf3
|
UTSW |
6 |
42,596,697 (GRCm38) |
missense |
probably benign |
0.07 |
|
R6005:Tcaf3
|
UTSW |
6 |
42,589,971 (GRCm38) |
missense |
probably benign |
0.19 |
|
R6270:Tcaf3
|
UTSW |
6 |
42,593,791 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6341:Tcaf3
|
UTSW |
6 |
42,597,259 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R6344:Tcaf3
|
UTSW |
6 |
42,597,171 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R6521:Tcaf3
|
UTSW |
6 |
42,593,238 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6589:Tcaf3
|
UTSW |
6 |
42,594,061 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R6981:Tcaf3
|
UTSW |
6 |
42,597,125 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7155:Tcaf3
|
UTSW |
6 |
42,593,891 (GRCm38) |
missense |
probably benign |
|
|
R7185:Tcaf3
|
UTSW |
6 |
42,593,930 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7262:Tcaf3
|
UTSW |
6 |
42,593,801 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7340:Tcaf3
|
UTSW |
6 |
42,589,914 (GRCm38) |
missense |
probably benign |
0.08 |
|
R7421:Tcaf3
|
UTSW |
6 |
42,596,842 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7690:Tcaf3
|
UTSW |
6 |
42,597,135 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7850:Tcaf3
|
UTSW |
6 |
42,594,206 (GRCm38) |
splice site |
probably null |
|
|
R7909:Tcaf3
|
UTSW |
6 |
42,591,964 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R9419:Tcaf3
|
UTSW |
6 |
42,596,782 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9440:Tcaf3
|
UTSW |
6 |
42,596,972 (GRCm38) |
nonsense |
probably null |
|
|
R9469:Tcaf3
|
UTSW |
6 |
42,596,894 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9668:Tcaf3
|
UTSW |
6 |
42,589,702 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9787:Tcaf3
|
UTSW |
6 |
42,597,090 (GRCm38) |
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