Incidental Mutation 'R2238:Tcaf3'
| ID |
240231 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcaf3
|
| Ensembl Gene |
ENSMUSG00000018656 |
| Gene Name |
TRPM8 channel-associated factor 3 |
| Synonyms |
Eapa2, Fam115e |
| MMRRC Submission |
040238-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R2238 (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 42593328 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 497
(Y497H)
|
| 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: Y497H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000064060
Gene: ENSMUSG00000018656
AA Change: Y497H
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430007A20Rik |
T |
A |
4: 144,519,899 (GRCm38) |
V5E |
possibly damaging |
Het |
| Acaca |
T |
C |
11: 84,391,505 (GRCm38) |
|
probably benign |
Het |
| Adam18 |
T |
C |
8: 24,646,287 (GRCm38) |
E406G |
probably benign |
Het |
| Adgrl4 |
A |
T |
3: 151,500,142 (GRCm38) |
I164F |
probably damaging |
Het |
| Arhgap36 |
G |
T |
X: 49,493,405 (GRCm38) |
V60L |
possibly damaging |
Het |
| Bmi1 |
T |
C |
2: 18,683,414 (GRCm38) |
|
probably benign |
Het |
| Carf |
T |
C |
1: 60,148,034 (GRCm38) |
S599P |
probably benign |
Het |
| Cdc37 |
G |
A |
9: 21,142,533 (GRCm38) |
Q176* |
probably null |
Het |
| Clca3a1 |
T |
A |
3: 144,752,005 (GRCm38) |
I373F |
possibly damaging |
Het |
| Clnk |
A |
G |
5: 38,764,351 (GRCm38) |
|
probably benign |
Het |
| Cnot1 |
T |
C |
8: 95,769,521 (GRCm38) |
I342V |
probably benign |
Het |
| Dact2 |
A |
T |
17: 14,197,050 (GRCm38) |
L296Q |
probably damaging |
Het |
| Dctn2 |
C |
T |
10: 127,276,388 (GRCm38) |
T123I |
probably damaging |
Het |
| Deup1 |
A |
C |
9: 15,575,301 (GRCm38) |
I455S |
probably damaging |
Het |
| Dnmbp |
A |
G |
19: 43,868,864 (GRCm38) |
V957A |
possibly damaging |
Het |
| Emilin2 |
T |
C |
17: 71,274,739 (GRCm38) |
R331G |
possibly damaging |
Het |
| Eomes |
A |
G |
9: 118,482,291 (GRCm38) |
D394G |
probably damaging |
Het |
| Epn1 |
A |
G |
7: 5,097,602 (GRCm38) |
N518S |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,163,618 (GRCm38) |
I30T |
probably benign |
Het |
| Gcc1 |
A |
G |
6: 28,420,463 (GRCm38) |
V285A |
probably benign |
Het |
| Gopc |
T |
C |
10: 52,353,403 (GRCm38) |
H188R |
probably damaging |
Het |
| Herc6 |
A |
G |
6: 57,654,401 (GRCm38) |
N693D |
probably benign |
Het |
| Hipk2 |
A |
G |
6: 38,729,915 (GRCm38) |
|
probably benign |
Het |
| Htatsf1 |
G |
T |
X: 57,066,504 (GRCm38) |
D642Y |
unknown |
Het |
| Ints1 |
G |
A |
5: 139,765,200 (GRCm38) |
T814M |
possibly damaging |
Het |
| Kdm6a |
T |
C |
X: 18,199,237 (GRCm38) |
F104S |
probably damaging |
Het |
| Kdr |
T |
A |
5: 75,949,519 (GRCm38) |
Y936F |
possibly damaging |
Het |
| Ly6k |
T |
C |
15: 74,797,169 (GRCm38) |
E87G |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,743,263 (GRCm38) |
N3303D |
probably benign |
Het |
| Mindy4 |
T |
C |
6: 55,301,070 (GRCm38) |
F633S |
probably damaging |
Het |
| Msl2 |
T |
A |
9: 101,101,370 (GRCm38) |
N314K |
probably benign |
Het |
| Ncapd3 |
A |
G |
9: 27,067,024 (GRCm38) |
T840A |
probably benign |
Het |
| Neil3 |
T |
C |
8: 53,599,276 (GRCm38) |
D429G |
possibly damaging |
Het |
| Nt5c1b |
C |
A |
12: 10,375,558 (GRCm38) |
T309K |
probably damaging |
Het |
| Nt5c1b |
A |
G |
12: 10,390,108 (GRCm38) |
Y550C |
probably damaging |
Het |
| Olfr1417 |
T |
C |
19: 11,828,450 (GRCm38) |
D192G |
probably damaging |
Het |
| Pabpc4l |
A |
C |
3: 46,446,702 (GRCm38) |
V169G |
probably damaging |
Het |
| Pcgf5 |
A |
T |
19: 36,437,354 (GRCm38) |
N105I |
probably damaging |
Het |
| Phka2 |
A |
G |
X: 160,541,412 (GRCm38) |
E254G |
probably damaging |
Het |
| Pik3cb |
A |
G |
9: 99,041,028 (GRCm38) |
Y984H |
probably damaging |
Het |
| Ptprz1 |
A |
T |
6: 22,987,377 (GRCm38) |
Q387L |
probably damaging |
Het |
| Rassf8 |
T |
C |
6: 145,817,184 (GRCm38) |
V419A |
probably damaging |
Het |
| Rnf148 |
T |
C |
6: 23,654,346 (GRCm38) |
Y217C |
probably benign |
Het |
| Sec24d |
T |
A |
3: 123,349,894 (GRCm38) |
|
probably null |
Het |
| Sesn3 |
T |
C |
9: 14,308,465 (GRCm38) |
V50A |
probably benign |
Het |
| Sgcd |
T |
C |
11: 47,132,682 (GRCm38) |
N99D |
possibly damaging |
Het |
| Sncaip |
T |
C |
18: 52,868,547 (GRCm38) |
S47P |
probably damaging |
Het |
| Sp2 |
C |
T |
11: 96,955,936 (GRCm38) |
C527Y |
probably damaging |
Het |
| Spata4 |
A |
C |
8: 54,602,629 (GRCm38) |
K185T |
probably benign |
Het |
| Spin2c |
A |
G |
X: 153,833,676 (GRCm38) |
I162V |
probably damaging |
Het |
| Srcin1 |
T |
C |
11: 97,534,819 (GRCm38) |
T471A |
probably benign |
Het |
| Stac |
G |
A |
9: 111,690,122 (GRCm38) |
|
probably benign |
Het |
| Tmem40 |
C |
T |
6: 115,731,077 (GRCm38) |
W150* |
probably null |
Het |
| Tmem59l |
T |
C |
8: 70,485,122 (GRCm38) |
T203A |
probably damaging |
Het |
| Tnfsf11 |
A |
T |
14: 78,299,981 (GRCm38) |
S81T |
possibly damaging |
Het |
| Topaz1 |
C |
T |
9: 122,771,147 (GRCm38) |
T984I |
probably benign |
Het |
| Vmn1r204 |
A |
G |
13: 22,556,823 (GRCm38) |
H208R |
probably benign |
Het |
| Vmn2r98 |
T |
A |
17: 19,065,951 (GRCm38) |
M237K |
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 |
|
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 |
|
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'- CCCAAGTGAAGCTGAATTTAGCC -3'
(R):5'- TTGAGTCCGTGATCTACAGCC -3'
Sequencing Primer
(F):5'- GAATTTAGCCAGCTTTCTTTCTCTAC -3'
(R):5'- TAGCTTACACGAGAGCTGGCTG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation