Incidental Mutation 'R6521:Tcaf3'
| ID |
521267 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcaf3
|
| Ensembl Gene |
ENSMUSG00000018656 |
| Gene Name |
TRPM8 channel-associated factor 3 |
| Synonyms |
Eapa2, Fam115e |
| MMRRC Submission |
044647-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R6521 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
42564147-42574306 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 42570172 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 527
(I527L)
|
| 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: I527L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000064060
Gene: ENSMUSG00000018656
AA Change: I527L
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.0%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
A |
8: 111,769,968 (GRCm39) |
S356T |
probably benign |
Het |
| Acsbg2 |
T |
C |
17: 57,168,565 (GRCm39) |
M185V |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,581,771 (GRCm39) |
F4758I |
probably damaging |
Het |
| Ank3 |
A |
G |
10: 69,828,596 (GRCm39) |
|
probably benign |
Het |
| Ankfy1 |
G |
A |
11: 72,621,308 (GRCm39) |
R198Q |
possibly damaging |
Het |
| Ano4 |
A |
G |
10: 88,819,640 (GRCm39) |
V537A |
probably damaging |
Het |
| Catsper2 |
A |
G |
2: 121,237,288 (GRCm39) |
L204P |
probably damaging |
Het |
| Cdh20 |
A |
C |
1: 104,869,859 (GRCm39) |
D193A |
probably damaging |
Het |
| Ceacam5 |
T |
C |
7: 17,484,756 (GRCm39) |
|
probably null |
Het |
| Celf4 |
T |
A |
18: 25,612,531 (GRCm39) |
|
probably null |
Het |
| Cfap91 |
A |
G |
16: 38,127,121 (GRCm39) |
V545A |
probably benign |
Het |
| Crebbp |
A |
T |
16: 3,936,992 (GRCm39) |
F754I |
probably damaging |
Het |
| Cyfip2 |
A |
T |
11: 46,145,415 (GRCm39) |
I635N |
probably damaging |
Het |
| Erbb4 |
T |
A |
1: 68,081,689 (GRCm39) |
D1131V |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
| Hoxc8 |
G |
A |
15: 102,901,135 (GRCm39) |
V193M |
probably benign |
Het |
| Klhdc3 |
A |
G |
17: 46,988,687 (GRCm39) |
V124A |
probably benign |
Het |
| Klhl18 |
A |
G |
9: 110,257,703 (GRCm39) |
I509T |
possibly damaging |
Het |
| Mdfic |
T |
A |
6: 15,729,027 (GRCm39) |
|
probably benign |
Het |
| Mkln1 |
T |
A |
6: 31,467,479 (GRCm39) |
D64E |
probably damaging |
Het |
| Mmd2 |
A |
G |
5: 142,560,585 (GRCm39) |
I112T |
probably damaging |
Het |
| Mpl |
C |
T |
4: 118,312,314 (GRCm39) |
|
probably null |
Het |
| Mtmr4 |
A |
G |
11: 87,504,353 (GRCm39) |
T1044A |
possibly damaging |
Het |
| Muc5b |
C |
A |
7: 141,412,908 (GRCm39) |
Y1951* |
probably null |
Het |
| Myo15a |
C |
T |
11: 60,393,195 (GRCm39) |
H2240Y |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 126,309,909 (GRCm39) |
I74K |
probably damaging |
Het |
| Nfxl1 |
A |
T |
5: 72,697,651 (GRCm39) |
|
probably null |
Het |
| Or11j4 |
T |
C |
14: 50,631,005 (GRCm39) |
V264A |
possibly damaging |
Het |
| Or2ah1 |
A |
T |
2: 85,653,794 (GRCm39) |
I160F |
probably benign |
Het |
| Or4c11c |
A |
G |
2: 88,661,700 (GRCm39) |
I80V |
probably benign |
Het |
| Or8d2 |
C |
T |
9: 38,759,893 (GRCm39) |
T161I |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,154,399 (GRCm39) |
Y2460C |
probably damaging |
Het |
| Pigx |
A |
G |
16: 31,906,129 (GRCm39) |
L64P |
probably damaging |
Het |
| Prss1 |
C |
T |
6: 41,440,615 (GRCm39) |
T230I |
probably damaging |
Het |
| Ptma |
A |
G |
1: 86,455,569 (GRCm39) |
|
probably null |
Het |
| Rab39 |
T |
C |
9: 53,617,331 (GRCm39) |
T29A |
probably benign |
Het |
| Rem2 |
C |
T |
14: 54,715,144 (GRCm39) |
A107V |
possibly damaging |
Het |
| Senp1 |
A |
G |
15: 97,946,152 (GRCm39) |
V531A |
probably damaging |
Het |
| Serhl |
A |
G |
15: 82,985,843 (GRCm39) |
|
probably null |
Het |
| Sirpa |
T |
G |
2: 129,472,075 (GRCm39) |
Y164D |
probably damaging |
Het |
| Slc12a3 |
T |
C |
8: 95,069,741 (GRCm39) |
I550T |
possibly damaging |
Het |
| Slc22a14 |
T |
C |
9: 119,049,835 (GRCm39) |
|
probably null |
Het |
| Slfn5 |
A |
G |
11: 82,851,241 (GRCm39) |
N513D |
probably damaging |
Het |
| Sptan1 |
T |
C |
2: 29,910,467 (GRCm39) |
S1831P |
possibly damaging |
Het |
| Swap70 |
T |
C |
7: 109,855,027 (GRCm39) |
L109P |
probably benign |
Het |
| Tas2r119 |
G |
A |
15: 32,178,319 (GRCm39) |
C295Y |
probably damaging |
Het |
| Traj31 |
A |
G |
14: 54,425,387 (GRCm39) |
|
probably benign |
Het |
| Unc5a |
T |
A |
13: 55,152,748 (GRCm39) |
D887E |
probably benign |
Het |
| Zfp407 |
T |
A |
18: 84,450,536 (GRCm39) |
H1600L |
probably damaging |
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 |
|
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'- CAAACCACTTCAGCTGCCTG -3'
(R):5'- CAGAGGATTTCCATCTACGACTCTG -3'
Sequencing Primer
(F):5'- AGCTGCCTGTGTTCCTAGAC -3'
(R):5'- CGACTCTGTGAAGAAACATGCTCTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation