Incidental Mutation 'R7690:Tcaf3'
| ID |
593330 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcaf3
|
| Ensembl Gene |
ENSMUSG00000018656 |
| Gene Name |
TRPM8 channel-associated factor 3 |
| Synonyms |
Eapa2, Fam115e |
| MMRRC Submission |
045754-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R7690 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
42584866-42597692 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 42597135 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 48
(V48L)
|
| 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: V48L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064060
Gene: ENSMUSG00000018656
AA Change: V48L
| 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 damaging
Transcript: ENSMUST00000134707
AA Change: V48L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123321
Gene: ENSMUSG00000018656
AA Change: V48L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
210 |
221 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (57/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,314,154 (GRCm38) |
T710S |
probably benign |
Het |
| Adgrl2 |
A |
G |
3: 148,817,298 (GRCm38) |
L430P |
|
Het |
| Agap1 |
T |
C |
1: 89,843,071 (GRCm38) |
S648P |
probably benign |
Het |
| Alox5 |
T |
C |
6: 116,415,456 (GRCm38) |
H368R |
probably damaging |
Het |
| Ano2 |
T |
C |
6: 126,013,198 (GRCm38) |
F761L |
probably damaging |
Het |
| Aox4 |
T |
C |
1: 58,263,917 (GRCm38) |
V1169A |
probably damaging |
Het |
| Apbb1ip |
T |
A |
2: 22,816,984 (GRCm38) |
M11K |
unknown |
Het |
| Arl5a |
G |
T |
2: 52,412,065 (GRCm38) |
H112Q |
possibly damaging |
Het |
| Ccdc18 |
C |
T |
5: 108,228,662 (GRCm38) |
T1323I |
probably benign |
Het |
| Cmtm5 |
G |
A |
14: 54,936,481 (GRCm38) |
|
probably benign |
Het |
| Cul2 |
T |
C |
18: 3,419,420 (GRCm38) |
Y194H |
probably benign |
Het |
| Daglb |
T |
C |
5: 143,494,183 (GRCm38) |
I415T |
possibly damaging |
Het |
| Ddx28 |
A |
G |
8: 106,010,331 (GRCm38) |
V365A |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,169,080 (GRCm38) |
|
probably null |
Het |
| Eppk1 |
T |
A |
15: 76,111,746 (GRCm38) |
T312S |
probably benign |
Het |
| Erich4 |
C |
A |
7: 25,615,285 (GRCm38) |
V68L |
possibly damaging |
Het |
| Fam171a2 |
G |
A |
11: 102,437,834 (GRCm38) |
P700S |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,998,181 (GRCm38) |
N2175S |
probably damaging |
Het |
| Fcrl6 |
T |
G |
1: 172,598,656 (GRCm38) |
R191S |
probably damaging |
Het |
| Fpgt |
A |
G |
3: 155,087,830 (GRCm38) |
S187P |
probably damaging |
Het |
| Gapvd1 |
T |
G |
2: 34,729,122 (GRCm38) |
T80P |
possibly damaging |
Het |
| Gclm |
A |
G |
3: 122,246,056 (GRCm38) |
N24S |
probably damaging |
Het |
| Gdf15 |
A |
G |
8: 70,631,347 (GRCm38) |
I89T |
possibly damaging |
Het |
| Gpn2 |
A |
G |
4: 133,591,382 (GRCm38) |
E306G |
probably damaging |
Het |
| Iars2 |
A |
T |
1: 185,320,997 (GRCm38) |
L359Q |
probably damaging |
Het |
| Kbtbd4 |
T |
G |
2: 90,905,896 (GRCm38) |
C84G |
possibly damaging |
Het |
| Manea |
A |
G |
4: 26,327,910 (GRCm38) |
V377A |
probably benign |
Het |
| Map4 |
C |
T |
9: 109,999,793 (GRCm38) |
T82I |
probably damaging |
Het |
| Mocos |
C |
T |
18: 24,664,025 (GRCm38) |
H81Y |
probably damaging |
Het |
| Mtx1 |
T |
A |
3: 89,212,781 (GRCm38) |
T87S |
|
Het |
| Muc6 |
G |
C |
7: 141,637,746 (GRCm38) |
P2338R |
probably damaging |
Het |
| Myom2 |
A |
T |
8: 15,111,717 (GRCm38) |
|
probably null |
Het |
| Mzt1 |
C |
T |
14: 99,040,588 (GRCm38) |
C48Y |
probably damaging |
Het |
| Nlrp9b |
C |
A |
7: 20,024,370 (GRCm38) |
P511T |
probably benign |
Het |
| Noc2l |
A |
G |
4: 156,237,631 (GRCm38) |
E135G |
probably benign |
Het |
| Nova1 |
G |
A |
12: 46,720,766 (GRCm38) |
P124L |
unknown |
Het |
| Pax8 |
T |
A |
2: 24,441,670 (GRCm38) |
T134S |
probably benign |
Het |
| Pde4a |
T |
A |
9: 21,166,004 (GRCm38) |
L26Q |
probably damaging |
Het |
| Pde6b |
G |
A |
5: 108,419,518 (GRCm38) |
E254K |
probably damaging |
Het |
| Pdlim7 |
A |
G |
13: 55,508,931 (GRCm38) |
I70T |
probably damaging |
Het |
| Pinx1 |
T |
A |
14: 63,864,211 (GRCm38) |
|
probably null |
Het |
| Pomt2 |
C |
A |
12: 87,130,367 (GRCm38) |
R352L |
probably damaging |
Het |
| Rapgef5 |
G |
A |
12: 117,721,370 (GRCm38) |
V519I |
possibly damaging |
Het |
| Rnps1 |
A |
G |
17: 24,418,194 (GRCm38) |
E16G |
unknown |
Het |
| Slc4a5 |
T |
C |
6: 83,285,872 (GRCm38) |
F782S |
probably damaging |
Het |
| Snap91 |
A |
G |
9: 86,824,978 (GRCm38) |
V253A |
possibly damaging |
Het |
| Syce3 |
T |
C |
15: 89,397,341 (GRCm38) |
M32V |
possibly damaging |
Het |
| Tenm4 |
T |
C |
7: 96,863,533 (GRCm38) |
V1366A |
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,689,520 (GRCm38) |
M1382I |
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,689,527 (GRCm38) |
G1385R |
probably damaging |
Het |
| Top3a |
G |
T |
11: 60,756,380 (GRCm38) |
L238I |
probably damaging |
Het |
| Trim9 |
A |
T |
12: 70,248,343 (GRCm38) |
N742K |
probably benign |
Het |
| Trp63 |
T |
A |
16: 25,876,733 (GRCm38) |
Y482N |
unknown |
Het |
| Ttc23 |
T |
G |
7: 67,670,170 (GRCm38) |
F192V |
possibly damaging |
Het |
| Uck1 |
A |
G |
2: 32,258,172 (GRCm38) |
V180A |
probably benign |
Het |
| Vwa5b1 |
G |
A |
4: 138,590,933 (GRCm38) |
T541I |
probably damaging |
Het |
| Zfp456 |
G |
T |
13: 67,366,794 (GRCm38) |
H264Q |
probably damaging |
Het |
| Zfpm2 |
T |
G |
15: 40,954,766 (GRCm38) |
V165G |
possibly damaging |
Het |
| Zup1 |
C |
T |
10: 33,930,155 (GRCm38) |
|
probably null |
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 |
|
|
R0357:Tcaf3
|
UTSW |
6 |
42,589,827 (GRCm38) |
missense |
probably damaging |
0.98 |
|
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 |
|
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'- GGCTGAACCAAGGCATTTATCC -3'
(R):5'- ATTCGTCGTGTAAGACTCTGTG -3'
Sequencing Primer
(F):5'- GGCATTTATCCCAGAATCACCTAGG -3'
(R):5'- CGTCGTGTAAGACTCTGTGAAAACAC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation