Incidental Mutation 'R7262:Tcaf3'
| ID |
564684 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcaf3
|
| Ensembl Gene |
ENSMUSG00000018656 |
| Gene Name |
TRPM8 channel-associated factor 3 |
| Synonyms |
Eapa2, Fam115e |
| MMRRC Submission |
045353-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R7262 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
42564147-42574306 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42570735 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 339
(L339P)
|
| 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: L339P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000064060
Gene: ENSMUSG00000018656
AA Change: L339P
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
A |
G |
16: 30,946,137 (GRCm39) |
|
probably null |
Het |
| Adh5 |
C |
A |
3: 138,151,133 (GRCm39) |
A32D |
possibly damaging |
Het |
| Ap1m2 |
A |
G |
9: 21,213,762 (GRCm39) |
I295T |
possibly damaging |
Het |
| B230104I21Rik |
T |
C |
4: 154,434,091 (GRCm39) |
S92P |
unknown |
Het |
| Carnmt1 |
A |
T |
19: 18,655,228 (GRCm39) |
N127I |
probably benign |
Het |
| Ccdc42 |
A |
G |
11: 68,485,399 (GRCm39) |
T106A |
probably damaging |
Het |
| Cdcp1 |
T |
C |
9: 123,002,680 (GRCm39) |
E797G |
probably damaging |
Het |
| Cep112 |
T |
A |
11: 108,555,467 (GRCm39) |
V821D |
probably damaging |
Het |
| Cpvl |
A |
T |
6: 53,909,500 (GRCm39) |
V212D |
probably damaging |
Het |
| Cttnbp2nl |
A |
T |
3: 104,940,062 (GRCm39) |
N2K |
probably damaging |
Het |
| Cyp2c69 |
T |
C |
19: 39,875,176 (GRCm39) |
|
probably benign |
Het |
| Cyp2u1 |
T |
C |
3: 131,091,605 (GRCm39) |
D305G |
probably damaging |
Het |
| Dab2ip |
A |
G |
2: 35,512,298 (GRCm39) |
|
probably null |
Het |
| Ddx55 |
T |
C |
5: 124,704,919 (GRCm39) |
L396P |
probably benign |
Het |
| Dhx34 |
G |
A |
7: 15,937,623 (GRCm39) |
A786V |
probably benign |
Het |
| Efcab3 |
G |
A |
11: 104,745,432 (GRCm39) |
|
probably null |
Het |
| Ehbp1l1 |
A |
T |
19: 5,768,474 (GRCm39) |
L943* |
probably null |
Het |
| Epm2aip1 |
A |
G |
9: 111,101,728 (GRCm39) |
T234A |
probably benign |
Het |
| Flot2 |
T |
C |
11: 77,948,175 (GRCm39) |
M145T |
probably damaging |
Het |
| Fn3k |
T |
C |
11: 121,339,741 (GRCm39) |
F168L |
probably damaging |
Het |
| Gmfb |
A |
T |
14: 47,052,386 (GRCm39) |
C87S |
probably damaging |
Het |
| H2-M3 |
T |
C |
17: 37,582,084 (GRCm39) |
F180S |
probably damaging |
Het |
| Havcr2 |
C |
T |
11: 46,360,388 (GRCm39) |
T205I |
probably benign |
Het |
| Hdac3 |
C |
T |
18: 38,078,616 (GRCm39) |
C123Y |
probably damaging |
Het |
| Itpk1 |
T |
C |
12: 102,641,712 (GRCm39) |
E37G |
possibly damaging |
Het |
| Jmjd7 |
A |
G |
2: 119,862,467 (GRCm39) |
H283R |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,745,219 (GRCm39) |
S1772P |
possibly damaging |
Het |
| Klhl6 |
T |
C |
16: 19,801,546 (GRCm39) |
T70A |
probably damaging |
Het |
| Kntc1 |
C |
A |
5: 123,925,036 (GRCm39) |
D1116E |
probably benign |
Het |
| Lama4 |
T |
A |
10: 38,970,930 (GRCm39) |
H1498Q |
probably damaging |
Het |
| Lamp1 |
A |
T |
8: 13,217,296 (GRCm39) |
T102S |
probably benign |
Het |
| Lrp8 |
A |
G |
4: 107,704,661 (GRCm39) |
N168D |
probably benign |
Het |
| Ltbp1 |
G |
T |
17: 75,671,363 (GRCm39) |
D1515Y |
probably damaging |
Het |
| Obscn |
A |
G |
11: 59,006,715 (GRCm39) |
V1149A |
probably damaging |
Het |
| Or10q1 |
A |
T |
19: 13,726,535 (GRCm39) |
T22S |
probably benign |
Het |
| Or4f6 |
A |
G |
2: 111,838,902 (GRCm39) |
S210P |
probably damaging |
Het |
| Or52ad1 |
T |
C |
7: 102,995,764 (GRCm39) |
R124G |
probably damaging |
Het |
| Pak4 |
C |
A |
7: 28,264,625 (GRCm39) |
M92I |
possibly damaging |
Het |
| Pam |
T |
C |
1: 97,782,448 (GRCm39) |
K157R |
|
Het |
| Pcdh9 |
A |
T |
14: 93,253,141 (GRCm39) |
V1174E |
probably benign |
Het |
| Phf8-ps |
G |
A |
17: 33,285,971 (GRCm39) |
T277I |
probably damaging |
Het |
| Ppp1r3a |
T |
C |
6: 14,719,069 (GRCm39) |
D615G |
probably benign |
Het |
| Senp1 |
A |
T |
15: 97,964,379 (GRCm39) |
D278E |
probably benign |
Het |
| Serpinc1 |
A |
G |
1: 160,817,229 (GRCm39) |
N108D |
probably damaging |
Het |
| Srl |
C |
A |
16: 4,315,415 (GRCm39) |
A76S |
probably damaging |
Het |
| Tbc1d16 |
C |
A |
11: 119,045,921 (GRCm39) |
V509L |
probably benign |
Het |
| Tbc1d24 |
A |
G |
17: 24,426,820 (GRCm39) |
F357S |
probably damaging |
Het |
| Tmem232 |
A |
T |
17: 65,807,112 (GRCm39) |
I27N |
probably benign |
Het |
| Ubr2 |
T |
C |
17: 47,311,665 (GRCm39) |
D62G |
probably damaging |
Het |
| Vcan |
T |
G |
13: 89,853,280 (GRCm39) |
D560A |
possibly damaging |
Het |
| Vmn2r80 |
T |
A |
10: 79,005,579 (GRCm39) |
N405K |
probably damaging |
Het |
| Wdhd1 |
A |
T |
14: 47,489,430 (GRCm39) |
I701K |
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 |
|
|
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 |
|
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'- CCGAAAGTGATAGTTTGTCCCTTC -3'
(R):5'- TGCTGCCATTTGTGCTTAATGC -3'
Sequencing Primer
(F):5'- AATGGGAAACTGCCTCGCTG -3'
(R):5'- CTTTACACTGGCTGATGGGGAAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation