Incidental Mutation 'R4904:Tcaf3'
ID |
378029 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tcaf3
|
Ensembl Gene |
ENSMUSG00000018656 |
Gene Name |
TRPM8 channel-associated factor 3 |
Synonyms |
Eapa2, Fam115e |
MMRRC Submission |
042507-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
R4904 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
42564147-42574306 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 42570931 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 274
(E274*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064060
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069023]
[ENSMUST00000134707]
|
AlphaFold |
Q6QR59 |
Predicted Effect |
probably null
Transcript: ENSMUST00000069023
AA Change: E274*
|
SMART Domains |
Protein: ENSMUSP00000064060 Gene: ENSMUSG00000018656 AA Change: E274*
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.1%
|
Validation Efficiency |
94% (82/87) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb2 |
T |
G |
4: 129,906,332 (GRCm39) |
I920S |
possibly damaging |
Het |
Afap1l1 |
A |
G |
18: 61,871,786 (GRCm39) |
I556T |
probably benign |
Het |
Ankfy1 |
C |
A |
11: 72,642,931 (GRCm39) |
H665N |
probably benign |
Het |
Aqp9 |
A |
C |
9: 71,069,685 (GRCm39) |
|
probably benign |
Het |
Arhgap21 |
A |
G |
2: 20,854,872 (GRCm39) |
S1497P |
probably benign |
Het |
Armc7 |
A |
G |
11: 115,379,800 (GRCm39) |
D166G |
probably damaging |
Het |
Arrdc1 |
C |
A |
2: 24,816,676 (GRCm39) |
V167F |
possibly damaging |
Het |
Col6a3 |
A |
T |
1: 90,729,164 (GRCm39) |
I1259N |
probably damaging |
Het |
Coq8a |
C |
T |
1: 180,006,168 (GRCm39) |
R207Q |
probably damaging |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Dcbld1 |
C |
T |
10: 52,196,066 (GRCm39) |
Q425* |
probably null |
Het |
Def8 |
A |
G |
8: 124,188,219 (GRCm39) |
N445D |
probably damaging |
Het |
Dicer1 |
C |
T |
12: 104,679,325 (GRCm39) |
V551I |
probably benign |
Het |
Dst |
A |
T |
1: 34,208,879 (GRCm39) |
T800S |
probably damaging |
Het |
Dtl |
A |
T |
1: 191,300,457 (GRCm39) |
C136S |
probably damaging |
Het |
Duox1 |
T |
A |
2: 122,151,345 (GRCm39) |
Y310N |
probably damaging |
Het |
Duxf1 |
T |
A |
10: 58,059,309 (GRCm39) |
R482* |
probably null |
Het |
Ebf1 |
T |
C |
11: 44,759,996 (GRCm39) |
F211S |
probably damaging |
Het |
Gm44501 |
A |
T |
17: 40,889,884 (GRCm39) |
I133F |
possibly damaging |
Het |
Gm6625 |
T |
C |
8: 89,873,379 (GRCm39) |
|
noncoding transcript |
Het |
Golgb1 |
A |
T |
16: 36,713,748 (GRCm39) |
D243V |
probably damaging |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Gtf2a1l |
G |
A |
17: 88,997,471 (GRCm39) |
|
probably null |
Het |
Herc2 |
T |
C |
7: 55,807,234 (GRCm39) |
F2471L |
probably damaging |
Het |
Hfe |
A |
T |
13: 23,892,037 (GRCm39) |
I109N |
probably damaging |
Het |
Hrg |
A |
G |
16: 22,770,000 (GRCm39) |
E43G |
probably benign |
Het |
Hspa1a |
T |
C |
17: 35,189,427 (GRCm39) |
D492G |
probably damaging |
Het |
Itgb8 |
T |
C |
12: 119,134,606 (GRCm39) |
D487G |
probably benign |
Het |
Jag1 |
A |
G |
2: 136,929,062 (GRCm39) |
V798A |
probably damaging |
Het |
Kcnq5 |
A |
G |
1: 21,494,324 (GRCm39) |
V501A |
probably damaging |
Het |
Kntc1 |
T |
C |
5: 123,916,396 (GRCm39) |
V743A |
possibly damaging |
Het |
Ly86 |
G |
T |
13: 37,599,496 (GRCm39) |
V126F |
possibly damaging |
Het |
Med26 |
A |
T |
8: 73,250,691 (GRCm39) |
L136H |
probably damaging |
Het |
Mpp3 |
T |
C |
11: 101,891,413 (GRCm39) |
D575G |
probably benign |
Het |
Myoc |
G |
A |
1: 162,466,994 (GRCm39) |
M54I |
probably benign |
Het |
Nlrp1c-ps |
A |
G |
11: 71,133,454 (GRCm39) |
|
noncoding transcript |
Het |
Or10v9 |
C |
T |
19: 11,833,231 (GRCm39) |
V29M |
possibly damaging |
Het |
Or51t4 |
A |
G |
7: 102,598,272 (GRCm39) |
Y190C |
probably damaging |
Het |
Or5v1b |
A |
G |
17: 37,841,522 (GRCm39) |
Y218C |
probably damaging |
Het |
Pak5 |
A |
T |
2: 135,925,267 (GRCm39) |
D678E |
probably benign |
Het |
Pcdhb12 |
T |
C |
18: 37,570,909 (GRCm39) |
V685A |
possibly damaging |
Het |
Pcdhga2 |
A |
G |
18: 37,802,932 (GRCm39) |
T259A |
possibly damaging |
Het |
Pde6a |
A |
T |
18: 61,398,105 (GRCm39) |
M702L |
probably benign |
Het |
Pigq |
A |
G |
17: 26,150,034 (GRCm39) |
|
probably benign |
Het |
Polrmt |
A |
G |
10: 79,582,385 (GRCm39) |
M1T |
probably null |
Het |
Ptch1 |
A |
C |
13: 63,670,818 (GRCm39) |
I904S |
probably damaging |
Het |
Rflnb |
A |
T |
11: 75,912,964 (GRCm39) |
C141* |
probably null |
Het |
Rilpl1 |
C |
A |
5: 124,652,807 (GRCm39) |
|
probably null |
Het |
Rpgrip1 |
T |
C |
14: 52,358,544 (GRCm39) |
S217P |
possibly damaging |
Het |
Rpgrip1 |
A |
T |
14: 52,397,586 (GRCm39) |
I1292F |
probably damaging |
Het |
Sema3a |
A |
C |
5: 13,631,066 (GRCm39) |
Y534S |
probably damaging |
Het |
Sez6 |
A |
G |
11: 77,866,080 (GRCm39) |
Y736C |
probably damaging |
Het |
Shank1 |
G |
T |
7: 43,983,464 (GRCm39) |
|
probably benign |
Het |
Slc45a4 |
G |
A |
15: 73,458,691 (GRCm39) |
S294F |
probably benign |
Het |
Slc9a8 |
A |
G |
2: 167,313,316 (GRCm39) |
I393V |
possibly damaging |
Het |
Sod1 |
T |
A |
16: 90,019,732 (GRCm39) |
F46Y |
probably damaging |
Het |
Sult1b1 |
T |
C |
5: 87,682,912 (GRCm39) |
D11G |
probably benign |
Het |
Syn3 |
T |
G |
10: 86,302,950 (GRCm39) |
K68N |
possibly damaging |
Het |
Taar8c |
C |
T |
10: 23,977,147 (GRCm39) |
V222I |
probably benign |
Het |
Tbx20 |
T |
C |
9: 24,670,129 (GRCm39) |
K235E |
probably damaging |
Het |
Tll1 |
A |
T |
8: 64,523,233 (GRCm39) |
M493K |
probably benign |
Het |
Tmem236 |
T |
A |
2: 14,200,803 (GRCm39) |
S123T |
probably benign |
Het |
Trim33 |
T |
C |
3: 103,238,963 (GRCm39) |
V647A |
possibly damaging |
Het |
Tspear |
T |
A |
10: 77,705,489 (GRCm39) |
Y296N |
possibly damaging |
Het |
Vps13d |
T |
C |
4: 144,882,015 (GRCm39) |
K1187E |
probably damaging |
Het |
Xpot |
C |
T |
10: 121,453,083 (GRCm39) |
V52I |
probably benign |
Het |
Zdhhc3 |
A |
T |
9: 122,929,452 (GRCm39) |
V61E |
probably damaging |
Het |
Zfp955a |
A |
T |
17: 33,461,162 (GRCm39) |
C323* |
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 |
|
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'- TATATTGGCGAGTGAGCAGCAG -3'
(R):5'- TTCCAGGTGTGAGGATGAGC -3'
Sequencing Primer
(F):5'- AACACGCTCAAGTCACTGGTTAG -3'
(R):5'- ATGAGCTCGAGGACGACC -3'
|
Posted On |
2016-04-15 |