Incidental Mutation 'R6341:Tcaf3'
| ID |
514380 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcaf3
|
| Ensembl Gene |
ENSMUSG00000018656 |
| Gene Name |
TRPM8 channel-associated factor 3 |
| Synonyms |
Eapa2, Fam115e |
| MMRRC Submission |
044495-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R6341 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
42584866-42597692 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 42597259 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 6
(D6E)
|
| 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: D6E
PolyPhen 2
Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000064060
Gene: ENSMUSG00000018656
AA Change: D6E
| 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
AA Change: D6E
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000123321
Gene: ENSMUSG00000018656
AA Change: D6E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
210 |
221 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
T |
C |
16: 31,105,546 (GRCm38) |
D658G |
possibly damaging |
Het |
| Amz2 |
A |
G |
11: 109,428,827 (GRCm38) |
H13R |
probably benign |
Het |
| Ankrd27 |
G |
T |
7: 35,627,403 (GRCm38) |
|
probably null |
Het |
| Atp8a1 |
T |
C |
5: 67,682,927 (GRCm38) |
T704A |
possibly damaging |
Het |
| Cabin1 |
A |
T |
10: 75,658,739 (GRCm38) |
M1602K |
probably damaging |
Het |
| Ccdc74a |
T |
C |
16: 17,648,114 (GRCm38) |
S105P |
probably damaging |
Het |
| Cdh26 |
T |
A |
2: 178,471,573 (GRCm38) |
|
probably null |
Het |
| Cxcl10 |
T |
C |
5: 92,348,213 (GRCm38) |
I22V |
probably benign |
Het |
| Cyp2c68 |
A |
C |
19: 39,712,489 (GRCm38) |
V295G |
possibly damaging |
Het |
| Ddx10 |
A |
T |
9: 53,204,251 (GRCm38) |
D594E |
probably benign |
Het |
| Ddx5 |
T |
C |
11: 106,785,542 (GRCm38) |
|
probably null |
Het |
| Ddx58 |
T |
A |
4: 40,222,199 (GRCm38) |
|
probably null |
Het |
| Duox1 |
T |
C |
2: 122,337,721 (GRCm38) |
I1109T |
probably damaging |
Het |
| Dusp15 |
T |
C |
2: 152,946,284 (GRCm38) |
|
probably null |
Het |
| Ecel1 |
A |
G |
1: 87,150,471 (GRCm38) |
|
probably null |
Het |
| Efcab6 |
T |
G |
15: 83,935,938 (GRCm38) |
Q714P |
possibly damaging |
Het |
| Erc1 |
A |
G |
6: 119,777,998 (GRCm38) |
L464P |
possibly damaging |
Het |
| Fam129c |
C |
T |
8: 71,600,077 (GRCm38) |
P65L |
probably damaging |
Het |
| Fam234a |
T |
A |
17: 26,213,693 (GRCm38) |
H494L |
probably damaging |
Het |
| Gfpt1 |
T |
C |
6: 87,088,145 (GRCm38) |
V694A |
probably damaging |
Het |
| Gli2 |
T |
C |
1: 118,836,224 (GRCm38) |
D1399G |
probably damaging |
Het |
| Gm10110 |
T |
C |
14: 89,896,708 (GRCm38) |
|
noncoding transcript |
Het |
| Hdac3 |
A |
G |
18: 37,944,164 (GRCm38) |
L219P |
probably damaging |
Het |
| Hlcs |
A |
G |
16: 94,231,163 (GRCm38) |
F52S |
probably damaging |
Het |
| Ints7 |
C |
A |
1: 191,613,127 (GRCm38) |
T643K |
probably damaging |
Het |
| Ireb2 |
A |
G |
9: 54,908,780 (GRCm38) |
I878M |
probably damaging |
Het |
| Itga3 |
A |
T |
11: 95,055,851 (GRCm38) |
|
probably null |
Het |
| Lrfn5 |
T |
A |
12: 61,843,582 (GRCm38) |
Y552* |
probably null |
Het |
| Mafb |
T |
C |
2: 160,366,451 (GRCm38) |
T76A |
probably damaging |
Het |
| Man2b1 |
A |
T |
8: 85,095,399 (GRCm38) |
S748C |
probably damaging |
Het |
| Mmp15 |
G |
T |
8: 95,365,463 (GRCm38) |
|
probably null |
Het |
| Mmp17 |
A |
T |
5: 129,601,955 (GRCm38) |
R335W |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,801,492 (GRCm38) |
D1005V |
probably damaging |
Het |
| Myh3 |
T |
C |
11: 67,082,996 (GRCm38) |
F165S |
probably benign |
Het |
| Nacc1 |
T |
C |
8: 84,674,791 (GRCm38) |
D419G |
probably benign |
Het |
| Neb |
G |
A |
2: 52,209,474 (GRCm38) |
S4545L |
probably damaging |
Het |
| Npas2 |
T |
C |
1: 39,300,687 (GRCm38) |
I106T |
probably damaging |
Het |
| Ogfrl1 |
T |
G |
1: 23,369,863 (GRCm38) |
K427N |
probably benign |
Het |
| Olfr1448 |
T |
C |
19: 12,919,479 (GRCm38) |
T277A |
probably benign |
Het |
| Pde4dip |
T |
A |
3: 97,694,911 (GRCm38) |
Q2283L |
probably benign |
Het |
| Phax |
C |
T |
18: 56,573,101 (GRCm38) |
T21M |
possibly damaging |
Het |
| Pitpnm1 |
A |
T |
19: 4,102,829 (GRCm38) |
K79* |
probably null |
Het |
| Pkd1 |
T |
A |
17: 24,580,227 (GRCm38) |
F2807I |
probably damaging |
Het |
| Plekha4 |
C |
T |
7: 45,541,148 (GRCm38) |
R427C |
probably damaging |
Het |
| Ptprj |
A |
T |
2: 90,458,349 (GRCm38) |
F757L |
probably benign |
Het |
| Rad1 |
A |
G |
15: 10,492,821 (GRCm38) |
D208G |
probably damaging |
Het |
| Rangrf |
T |
A |
11: 68,972,712 (GRCm38) |
N156I |
probably benign |
Het |
| Rasl11b |
T |
C |
5: 74,198,376 (GRCm38) |
S181P |
probably damaging |
Het |
| Rlf |
G |
A |
4: 121,149,360 (GRCm38) |
Q808* |
probably null |
Het |
| Rogdi |
G |
T |
16: 5,013,377 (GRCm38) |
|
probably null |
Het |
| Sec24a |
A |
T |
11: 51,717,776 (GRCm38) |
V573D |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 45,770,578 (GRCm38) |
T200A |
probably damaging |
Het |
| Srgap2 |
C |
T |
1: 131,291,629 (GRCm38) |
R259H |
probably benign |
Het |
| Ssc5d |
T |
A |
7: 4,936,665 (GRCm38) |
V700E |
probably benign |
Het |
| Stt3a |
A |
T |
9: 36,751,296 (GRCm38) |
H222Q |
probably damaging |
Het |
| Tdrd12 |
C |
T |
7: 35,490,048 (GRCm38) |
R421H |
probably damaging |
Het |
| Top3b |
T |
C |
16: 16,879,071 (GRCm38) |
M62T |
probably damaging |
Het |
| Trhr |
T |
G |
15: 44,229,298 (GRCm38) |
Y310* |
probably null |
Het |
| Urb2 |
G |
T |
8: 124,031,125 (GRCm38) |
E1190D |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,381,353 (GRCm38) |
T1085A |
probably damaging |
Het |
| Vmn1r179 |
T |
A |
7: 23,929,066 (GRCm38) |
H227Q |
possibly damaging |
Het |
| Vmn1r31 |
A |
T |
6: 58,472,010 (GRCm38) |
M290K |
probably benign |
Het |
| Wdr75 |
T |
C |
1: 45,802,131 (GRCm38) |
|
probably null |
Het |
| Wnk1 |
A |
T |
6: 119,948,585 (GRCm38) |
V1306D |
probably damaging |
Het |
| Xkr4 |
T |
C |
1: 3,670,778 (GRCm38) |
T191A |
probably benign |
Het |
| Zc3h15 |
A |
G |
2: 83,661,223 (GRCm38) |
E265G |
probably benign |
Het |
| Zcchc9 |
A |
G |
13: 91,800,697 (GRCm38) |
F41S |
possibly damaging |
Het |
| Zfp251 |
T |
C |
15: 76,854,137 (GRCm38) |
H247R |
probably damaging |
Het |
| Zfp433 |
A |
G |
10: 81,720,123 (GRCm38) |
E152G |
probably damaging |
Het |
| Zfp770 |
A |
T |
2: 114,196,759 (GRCm38) |
S276R |
probably benign |
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 |
|
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 |
|
R7690:Tcaf3
|
UTSW |
6 |
42,597,135 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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'- ATGGAACCAAGCCATCGTGC -3'
(R):5'- TGAGAATGAAGCGCCTCAG -3'
Sequencing Primer
(F):5'- TAGCTCTCATGGGATACGACC -3'
(R):5'- TGAAGCGCCTCAGATGAAATC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation