Incidental Mutation 'R7421:Tcaf3'
| ID |
575655 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcaf3
|
| Ensembl Gene |
ENSMUSG00000018656 |
| Gene Name |
TRPM8 channel-associated factor 3 |
| Synonyms |
Eapa2, Fam115e |
| MMRRC Submission |
045499-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R7421 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
42564147-42574306 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 42573776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 145
(N145K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069023]
[ENSMUST00000134707]
|
| AlphaFold |
Q6QR59 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069023
AA Change: N145K
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000064060
Gene: ENSMUSG00000018656
AA Change: N145K
| 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: N145K
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000123321
Gene: ENSMUSG00000018656
AA Change: N145K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
210 |
221 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aar2 |
T |
C |
2: 156,397,915 (GRCm39) |
I309T |
possibly damaging |
Het |
| Abca12 |
A |
C |
1: 71,286,295 (GRCm39) |
L2513* |
probably null |
Het |
| Abca13 |
G |
C |
11: 9,460,463 (GRCm39) |
V4158L |
probably benign |
Het |
| Acaca |
A |
G |
11: 84,254,562 (GRCm39) |
T1880A |
possibly damaging |
Het |
| Arhgap5 |
C |
T |
12: 52,564,783 (GRCm39) |
R585C |
probably benign |
Het |
| Arsk |
A |
C |
13: 76,210,634 (GRCm39) |
I471S |
possibly damaging |
Het |
| Asb7 |
T |
C |
7: 66,309,868 (GRCm39) |
D116G |
probably damaging |
Het |
| Atad2 |
A |
G |
15: 57,998,322 (GRCm39) |
S17P |
probably benign |
Het |
| Atf5 |
T |
C |
7: 44,464,562 (GRCm39) |
E10G |
probably damaging |
Het |
| B3gntl1 |
G |
T |
11: 121,515,004 (GRCm39) |
P255T |
probably benign |
Het |
| Cacna1s |
A |
G |
1: 136,014,540 (GRCm39) |
N649S |
probably damaging |
Het |
| Ccnc |
A |
G |
4: 21,743,291 (GRCm39) |
Y192C |
probably damaging |
Het |
| Cd28 |
A |
G |
1: 60,802,459 (GRCm39) |
N126S |
probably benign |
Het |
| Cep57 |
A |
G |
9: 13,721,969 (GRCm39) |
S360P |
possibly damaging |
Het |
| Ces1e |
C |
T |
8: 93,941,703 (GRCm39) |
V257I |
probably benign |
Het |
| Chd1 |
A |
G |
17: 15,969,660 (GRCm39) |
K913R |
probably benign |
Het |
| Cluap1 |
A |
T |
16: 3,758,657 (GRCm39) |
D373V |
probably damaging |
Het |
| Cnmd |
T |
C |
14: 79,882,947 (GRCm39) |
I160V |
probably benign |
Het |
| Col6a4 |
G |
A |
9: 105,897,994 (GRCm39) |
P1686S |
probably damaging |
Het |
| Coro7 |
G |
T |
16: 4,486,615 (GRCm39) |
A186E |
probably benign |
Het |
| Cuta |
T |
C |
17: 27,158,431 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
G |
A |
11: 69,383,631 (GRCm39) |
H1098Y |
probably benign |
Het |
| Duox1 |
T |
A |
2: 122,153,711 (GRCm39) |
C345S |
probably damaging |
Het |
| Ephb4 |
T |
A |
5: 137,352,687 (GRCm39) |
I90K |
possibly damaging |
Het |
| Erich3 |
T |
A |
3: 154,439,198 (GRCm39) |
M280K |
probably damaging |
Het |
| Fcer2a |
T |
A |
8: 3,740,335 (GRCm39) |
H4L |
probably benign |
Het |
| Grk1 |
A |
T |
8: 13,455,316 (GRCm39) |
I67F |
probably damaging |
Het |
| Grm8 |
A |
C |
6: 27,762,476 (GRCm39) |
S250A |
possibly damaging |
Het |
| H2-Q6 |
A |
G |
17: 35,644,204 (GRCm39) |
E62G |
possibly damaging |
Het |
| Inppl1 |
C |
T |
7: 101,482,144 (GRCm39) |
R144H |
probably damaging |
Het |
| Itga3 |
G |
T |
11: 94,959,681 (GRCm39) |
P33Q |
probably benign |
Het |
| Itgax |
G |
A |
7: 127,739,604 (GRCm39) |
S672N |
probably damaging |
Het |
| Itpk1 |
A |
T |
12: 102,540,324 (GRCm39) |
V253E |
possibly damaging |
Het |
| Krt15 |
A |
T |
11: 100,026,386 (GRCm39) |
V100E |
possibly damaging |
Het |
| Mrps7 |
T |
C |
11: 115,495,717 (GRCm39) |
V85A |
probably benign |
Het |
| Muc2 |
T |
C |
7: 141,301,863 (GRCm39) |
L427P |
|
Het |
| Myef2 |
G |
T |
2: 124,952,537 (GRCm39) |
Q185K |
probably benign |
Het |
| Or1e1b-ps1 |
G |
T |
11: 73,846,335 (GRCm39) |
C273F |
unknown |
Het |
| Or4a76 |
T |
A |
2: 89,460,915 (GRCm39) |
D109V |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,289,897 (GRCm39) |
M905I |
possibly damaging |
Het |
| Pgm5 |
C |
T |
19: 24,686,663 (GRCm39) |
V515M |
probably benign |
Het |
| Pik3r1 |
A |
G |
13: 101,825,644 (GRCm39) |
I381T |
probably damaging |
Het |
| Pla2g4f |
A |
G |
2: 120,137,737 (GRCm39) |
M341T |
probably benign |
Het |
| Prmt2 |
A |
G |
10: 76,056,912 (GRCm39) |
F204L |
probably benign |
Het |
| Pwwp3a |
T |
A |
10: 80,068,587 (GRCm39) |
S244T |
probably benign |
Het |
| Rasa2 |
A |
G |
9: 96,493,500 (GRCm39) |
V50A |
unknown |
Het |
| Scn7a |
A |
C |
2: 66,505,876 (GRCm39) |
I1671S |
probably benign |
Het |
| Sco2 |
G |
A |
15: 89,255,923 (GRCm39) |
R244C |
possibly damaging |
Het |
| Skic3 |
A |
T |
13: 76,296,944 (GRCm39) |
K1100N |
probably benign |
Het |
| Slfn1 |
A |
G |
11: 83,011,967 (GRCm39) |
M28V |
possibly damaging |
Het |
| Slfn9 |
A |
T |
11: 82,872,197 (GRCm39) |
C846* |
probably null |
Het |
| Slfn9 |
A |
G |
11: 82,878,562 (GRCm39) |
I189T |
probably damaging |
Het |
| Svil |
T |
A |
18: 5,056,109 (GRCm39) |
S327R |
probably benign |
Het |
| Trarg1 |
G |
A |
11: 76,585,051 (GRCm39) |
R147Q |
unknown |
Het |
| Trgv6 |
G |
T |
13: 19,374,814 (GRCm39) |
G40W |
possibly damaging |
Het |
| Upp2 |
G |
T |
2: 58,661,586 (GRCm39) |
V130F |
possibly damaging |
Het |
| Vnn3 |
G |
A |
10: 23,741,666 (GRCm39) |
A324T |
probably benign |
Het |
| Wasf2 |
A |
G |
4: 132,912,412 (GRCm39) |
E88G |
unknown |
Het |
| Zfp39 |
A |
T |
11: 58,780,933 (GRCm39) |
C610S |
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 |
|
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 |
|
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'- ATGAGGAAAGCTTTACTTACTGGAC -3'
(R):5'- ATGTGGTGAAATGGCTCTGC -3'
Sequencing Primer
(F):5'- GCTTTACTTACTGGACATAGAGTCTG -3'
(R):5'- GCTCTGCCCCTGCCCAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation