Incidental Mutation 'R4515:Tcaf3'
| ID |
332847 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcaf3
|
| Ensembl Gene |
ENSMUSG00000018656 |
| Gene Name |
TRPM8 channel-associated factor 3 |
| Synonyms |
Eapa2, Fam115e |
| MMRRC Submission |
041589-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R4515 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
42584866-42597692 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42589996 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 720
(Y720H)
|
| 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: Y720H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000064060
Gene: ENSMUSG00000018656
AA Change: Y720H
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151898
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
96% (65/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
G |
T |
5: 138,647,744 (GRCm38) |
K630N |
probably damaging |
Het |
| Acss2 |
C |
A |
2: 155,556,363 (GRCm38) |
L335I |
probably benign |
Het |
| Alg6 |
A |
T |
4: 99,752,786 (GRCm38) |
|
probably benign |
Het |
| Atp8b3 |
C |
T |
10: 80,523,847 (GRCm38) |
M984I |
probably benign |
Het |
| Bsn |
G |
T |
9: 108,104,078 (GRCm38) |
|
probably null |
Het |
| Ccdc88a |
T |
C |
11: 29,482,651 (GRCm38) |
I1219T |
probably benign |
Het |
| Cdhr4 |
G |
A |
9: 107,992,951 (GRCm38) |
E52K |
probably benign |
Het |
| Ces1a |
T |
A |
8: 93,020,904 (GRCm38) |
N500Y |
probably damaging |
Het |
| Chd3 |
G |
T |
11: 69,349,877 (GRCm38) |
R1579S |
probably benign |
Het |
| Chrnb3 |
T |
C |
8: 27,385,090 (GRCm38) |
L39P |
probably damaging |
Het |
| Ckm |
A |
G |
7: 19,420,284 (GRCm38) |
K319E |
probably damaging |
Het |
| Cnot6 |
C |
T |
11: 49,702,536 (GRCm38) |
|
probably null |
Het |
| Copg1 |
A |
G |
6: 87,907,546 (GRCm38) |
|
probably benign |
Het |
| Dbn1 |
A |
T |
13: 55,476,229 (GRCm38) |
I350N |
possibly damaging |
Het |
| Dnah2 |
A |
G |
11: 69,465,631 (GRCm38) |
S2135P |
possibly damaging |
Het |
| Dsg2 |
C |
A |
18: 20,601,387 (GRCm38) |
D807E |
probably benign |
Het |
| Fam122c |
G |
A |
X: 53,293,499 (GRCm38) |
R94H |
possibly damaging |
Het |
| Foxi1 |
A |
G |
11: 34,207,972 (GRCm38) |
F18L |
probably damaging |
Het |
| Galnt3 |
C |
A |
2: 66,093,610 (GRCm38) |
R438L |
probably damaging |
Het |
| Glod4 |
T |
A |
11: 76,243,571 (GRCm38) |
D25V |
probably damaging |
Het |
| Gm11492 |
A |
G |
11: 87,568,057 (GRCm38) |
H419R |
probably benign |
Het |
| Gm9008 |
C |
T |
6: 76,496,809 (GRCm38) |
V275I |
probably benign |
Het |
| Golga4 |
T |
A |
9: 118,559,008 (GRCm38) |
S1733T |
probably benign |
Het |
| H2-M10.3 |
C |
T |
17: 36,367,830 (GRCm38) |
|
probably null |
Het |
| Hemgn |
T |
C |
4: 46,396,477 (GRCm38) |
E253G |
probably damaging |
Het |
| Itsn1 |
G |
A |
16: 91,899,649 (GRCm38) |
V47M |
probably damaging |
Het |
| Kif5b |
A |
G |
18: 6,208,257 (GRCm38) |
V947A |
probably benign |
Het |
| Kif9 |
A |
G |
9: 110,489,867 (GRCm38) |
H133R |
probably benign |
Het |
| Lce1l |
T |
C |
3: 92,850,474 (GRCm38) |
T26A |
unknown |
Het |
| Macf1 |
T |
C |
4: 123,493,988 (GRCm38) |
E1172G |
probably damaging |
Het |
| Nkx3-2 |
C |
T |
5: 41,763,938 (GRCm38) |
V3M |
probably damaging |
Het |
| Nr2e1 |
G |
A |
10: 42,578,191 (GRCm38) |
T49I |
probably benign |
Het |
| Oc90 |
A |
G |
15: 65,892,393 (GRCm38) |
L138P |
probably damaging |
Het |
| Olfr834 |
T |
G |
9: 18,987,982 (GRCm38) |
|
probably null |
Het |
| Olfr954 |
C |
T |
9: 39,462,231 (GRCm38) |
R264* |
probably null |
Het |
| Orc4 |
G |
A |
2: 48,937,489 (GRCm38) |
P31S |
probably benign |
Het |
| Paqr3 |
T |
A |
5: 97,103,361 (GRCm38) |
N168I |
possibly damaging |
Het |
| Pcdhac1 |
T |
A |
18: 37,091,379 (GRCm38) |
I415N |
probably damaging |
Het |
| Pdik1l |
T |
C |
4: 134,278,896 (GRCm38) |
N75S |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,672,725 (GRCm38) |
H1005R |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,225,531 (GRCm38) |
S109G |
probably damaging |
Het |
| Prkch |
A |
G |
12: 73,702,838 (GRCm38) |
T402A |
possibly damaging |
Het |
| Ptger4 |
C |
A |
15: 5,242,379 (GRCm38) |
R253L |
probably damaging |
Het |
| Rabac1 |
A |
T |
7: 24,970,160 (GRCm38) |
Y173* |
probably null |
Het |
| Rapsn |
G |
A |
2: 91,043,212 (GRCm38) |
V288M |
possibly damaging |
Het |
| Sec31a |
A |
G |
5: 100,365,958 (GRCm38) |
S993P |
probably damaging |
Het |
| Serpina9 |
T |
A |
12: 104,001,294 (GRCm38) |
M281L |
probably benign |
Het |
| Serpine1 |
G |
A |
5: 137,069,468 (GRCm38) |
A117V |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 61,987,693 (GRCm38) |
|
probably null |
Het |
| Sipa1l2 |
T |
C |
8: 125,492,226 (GRCm38) |
D124G |
probably benign |
Het |
| Slc6a12 |
T |
A |
6: 121,353,530 (GRCm38) |
|
probably null |
Het |
| Stk11 |
A |
G |
10: 80,116,601 (GRCm38) |
|
probably benign |
Het |
| Tmem38a |
C |
T |
8: 72,572,161 (GRCm38) |
P20S |
possibly damaging |
Het |
| Tmprss11a |
C |
T |
5: 86,420,196 (GRCm38) |
R224K |
probably damaging |
Het |
| Tmprss15 |
C |
T |
16: 78,957,356 (GRCm38) |
S988N |
probably benign |
Het |
| Txn2 |
A |
T |
15: 77,915,443 (GRCm38) |
|
probably null |
Het |
| Ugt1a10 |
T |
A |
1: 88,056,197 (GRCm38) |
V239E |
probably damaging |
Het |
| Vmn2r102 |
A |
G |
17: 19,681,213 (GRCm38) |
Y534C |
probably damaging |
Het |
| Vmn2r78 |
A |
T |
7: 86,954,258 (GRCm38) |
D548V |
probably damaging |
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 |
|
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 |
|
R6341:Tcaf3
|
UTSW |
6 |
42,597,259 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
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'- CTCCCTGGGGATGTTTAAAACTG -3'
(R):5'- CAGTGAAACGCAGATAGGCATC -3'
Sequencing Primer
(F):5'- CTGTCTCATGCACATAAATAGTCCAG -3'
(R):5'- GGCATCAAATTCTGTCCAAGG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation