Incidental Mutation 'R5839:Tcaf3'
ID |
449797 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tcaf3
|
Ensembl Gene |
ENSMUSG00000018656 |
Gene Name |
TRPM8 channel-associated factor 3 |
Synonyms |
Eapa2, Fam115e |
MMRRC Submission |
044059-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
R5839 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
42564147-42574306 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 42570783 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 323
(E323G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064060
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069023]
[ENSMUST00000134707]
|
AlphaFold |
Q6QR59 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069023
AA Change: E323G
PolyPhen 2
Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000064060 Gene: ENSMUSG00000018656 AA Change: E323G
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
Validation Efficiency |
94% (62/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam22 |
T |
A |
5: 8,186,861 (GRCm39) |
Y420F |
probably damaging |
Het |
Adcy8 |
A |
G |
15: 64,588,031 (GRCm39) |
Y919H |
probably damaging |
Het |
Afg2a |
A |
G |
3: 37,518,803 (GRCm39) |
D779G |
probably damaging |
Het |
Ampd1 |
A |
T |
3: 102,992,744 (GRCm39) |
N162I |
possibly damaging |
Het |
Arhgef15 |
G |
A |
11: 68,844,982 (GRCm39) |
A205V |
probably benign |
Het |
Ash1l |
A |
G |
3: 88,890,658 (GRCm39) |
K846E |
probably damaging |
Het |
Azi2 |
C |
T |
9: 117,888,187 (GRCm39) |
T250I |
probably damaging |
Het |
Btbd16 |
G |
A |
7: 130,417,538 (GRCm39) |
|
probably null |
Het |
Ceacam16 |
T |
A |
7: 19,590,008 (GRCm39) |
K52* |
probably null |
Het |
Cfap74 |
T |
C |
4: 155,507,207 (GRCm39) |
|
probably null |
Het |
Cgn |
A |
C |
3: 94,681,703 (GRCm39) |
L464R |
probably damaging |
Het |
Chpt1 |
T |
A |
10: 88,339,625 (GRCm39) |
H32L |
probably damaging |
Het |
Clk1 |
G |
A |
1: 58,461,074 (GRCm39) |
T7I |
probably benign |
Het |
Col6a5 |
C |
T |
9: 105,822,592 (GRCm39) |
|
probably null |
Het |
Cpne4 |
C |
A |
9: 104,803,027 (GRCm39) |
R224S |
probably damaging |
Het |
Cysltr2 |
T |
C |
14: 73,267,623 (GRCm39) |
Y29C |
probably damaging |
Het |
Ddx5 |
A |
G |
11: 106,673,032 (GRCm39) |
S498P |
probably damaging |
Het |
Dgkg |
A |
G |
16: 22,385,244 (GRCm39) |
Y382H |
possibly damaging |
Het |
Efemp1 |
A |
G |
11: 28,871,418 (GRCm39) |
E339G |
possibly damaging |
Het |
Focad |
T |
A |
4: 88,115,083 (GRCm39) |
|
probably benign |
Het |
Gabbr1 |
G |
A |
17: 37,378,760 (GRCm39) |
G650D |
probably damaging |
Het |
Galnt9 |
A |
G |
5: 110,725,386 (GRCm39) |
S108G |
probably benign |
Het |
Igkv8-28 |
T |
A |
6: 70,121,145 (GRCm39) |
M1L |
probably benign |
Het |
Iqca1l |
T |
C |
5: 24,757,024 (GRCm39) |
K218E |
probably damaging |
Het |
Kcnq2 |
T |
C |
2: 180,751,544 (GRCm39) |
Y284C |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,275,117 (GRCm39) |
F6299S |
probably damaging |
Het |
Magi3 |
G |
A |
3: 104,127,047 (GRCm39) |
T79M |
probably damaging |
Het |
Mdh2 |
T |
A |
5: 135,812,146 (GRCm39) |
|
probably null |
Het |
Mgam |
A |
C |
6: 40,716,998 (GRCm39) |
N108T |
possibly damaging |
Het |
N4bp3 |
A |
T |
11: 51,536,909 (GRCm39) |
F55I |
probably benign |
Het |
Nasp |
C |
T |
4: 116,459,288 (GRCm39) |
|
probably null |
Het |
Ncapg |
T |
A |
5: 45,829,620 (GRCm39) |
H107Q |
probably damaging |
Het |
Ofcc1 |
T |
C |
13: 40,434,021 (GRCm39) |
K28R |
probably damaging |
Het |
Opn1sw |
C |
T |
6: 29,379,829 (GRCm39) |
C135Y |
probably damaging |
Het |
Pigo |
T |
C |
4: 43,022,104 (GRCm39) |
M346V |
probably damaging |
Het |
Pkn2 |
A |
T |
3: 142,527,290 (GRCm39) |
D386E |
probably benign |
Het |
Psd2 |
G |
T |
18: 36,140,577 (GRCm39) |
V617L |
probably damaging |
Het |
Rab39 |
C |
T |
9: 53,617,387 (GRCm39) |
R10H |
probably damaging |
Het |
Slc6a6 |
T |
A |
6: 91,700,298 (GRCm39) |
C9S |
probably damaging |
Het |
Slc8a2 |
A |
T |
7: 15,868,412 (GRCm39) |
I215F |
probably damaging |
Het |
Slitrk5 |
T |
C |
14: 111,917,030 (GRCm39) |
V218A |
probably benign |
Het |
Smchd1 |
A |
T |
17: 71,701,857 (GRCm39) |
V1045E |
probably damaging |
Het |
Smoc1 |
T |
C |
12: 81,214,359 (GRCm39) |
I247T |
probably damaging |
Het |
Snapc4 |
G |
C |
2: 26,255,546 (GRCm39) |
Q993E |
probably benign |
Het |
Spidr |
A |
T |
16: 15,855,366 (GRCm39) |
I383N |
probably damaging |
Het |
Stab2 |
A |
G |
10: 86,708,555 (GRCm39) |
V219A |
probably damaging |
Het |
Tas2r103 |
T |
C |
6: 133,013,779 (GRCm39) |
T96A |
probably benign |
Het |
Tecta |
T |
C |
9: 42,284,272 (GRCm39) |
T938A |
possibly damaging |
Het |
Tecta |
C |
T |
9: 42,242,319 (GRCm39) |
D2085N |
probably benign |
Het |
Tekt2 |
T |
A |
4: 126,216,629 (GRCm39) |
E328V |
probably damaging |
Het |
Tgfb1i1 |
A |
G |
7: 127,852,537 (GRCm39) |
*462W |
probably null |
Het |
Tnip2 |
T |
C |
5: 34,653,976 (GRCm39) |
|
probably benign |
Het |
Tpd52l2 |
G |
A |
2: 181,141,691 (GRCm39) |
V25I |
probably benign |
Het |
Traj15 |
T |
A |
14: 54,441,926 (GRCm39) |
|
probably benign |
Het |
Trpm8 |
A |
T |
1: 88,253,228 (GRCm39) |
I106F |
possibly damaging |
Het |
Ttc22 |
T |
C |
4: 106,495,717 (GRCm39) |
L357P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,739,772 (GRCm39) |
H3589R |
probably benign |
Het |
Vmn1r28 |
T |
A |
6: 58,242,280 (GRCm39) |
I41N |
possibly damaging |
Het |
Wasf1 |
T |
A |
10: 40,812,315 (GRCm39) |
V368E |
unknown |
Het |
Zeb1 |
A |
G |
18: 5,767,507 (GRCm39) |
M673V |
probably benign |
Het |
Zfp799 |
T |
C |
17: 33,041,086 (GRCm39) |
D31G |
probably null |
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 |
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'- ATGGCTAGTGATACCAAGGC -3'
(R):5'- AATTGCTTTCTTGCAGCTGC -3'
Sequencing Primer
(F):5'- CCAAAGCGCTTAAGGACGATGTTATC -3'
(R):5'- CGCTATGGCCGTGGTCG -3'
|
Posted On |
2016-12-20 |