Incidental Mutation 'R7850:Tcaf3'
| ID |
628763 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcaf3
|
| Ensembl Gene |
ENSMUSG00000018656 |
| Gene Name |
TRPM8 channel-associated factor 3 |
| Synonyms |
Eapa2, Fam115e |
| MMRRC Submission |
045903-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R7850 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
42564147-42574306 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 42571140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123321
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069023]
[ENSMUST00000069023]
[ENSMUST00000134707]
|
| AlphaFold |
Q6QR59 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000069023
|
| SMART Domains |
Protein: ENSMUSP00000064060
Gene: ENSMUSG00000018656
| 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 null
Transcript: ENSMUST00000069023
|
| SMART Domains |
Protein: ENSMUSP00000064060
Gene: ENSMUSG00000018656
| 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 null
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630089N07Rik |
A |
T |
16: 97,869,328 (GRCm39) |
D2E |
probably damaging |
Het |
| Abhd16b |
G |
A |
2: 181,135,518 (GRCm39) |
R140H |
not run |
Het |
| Acad11 |
G |
T |
9: 103,991,728 (GRCm39) |
G588C |
probably damaging |
Het |
| Baz2b |
C |
A |
2: 59,767,060 (GRCm39) |
E107D |
probably damaging |
Het |
| Bcas1 |
A |
G |
2: 170,190,023 (GRCm39) |
S625P |
probably damaging |
Het |
| Bdp1 |
T |
A |
13: 100,228,832 (GRCm39) |
L265F |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 135,998,786 (GRCm39) |
Y227C |
probably damaging |
Het |
| Cacna2d2 |
G |
A |
9: 107,402,575 (GRCm39) |
A848T |
probably benign |
Het |
| Cep135 |
T |
C |
5: 76,739,720 (GRCm39) |
|
probably null |
Het |
| Cyp2b9 |
G |
T |
7: 25,886,111 (GRCm39) |
E93* |
probably null |
Het |
| Dcp2 |
C |
A |
18: 44,533,415 (GRCm39) |
S122* |
probably null |
Het |
| Ecel1 |
A |
G |
1: 87,079,745 (GRCm39) |
L456P |
probably damaging |
Het |
| Entpd8 |
T |
C |
2: 24,975,028 (GRCm39) |
M453T |
probably damaging |
Het |
| Gcc2 |
T |
A |
10: 58,114,703 (GRCm39) |
V1084D |
probably damaging |
Het |
| Grem1 |
A |
G |
2: 113,580,178 (GRCm39) |
C108R |
probably damaging |
Het |
| Gtf2ird1 |
T |
C |
5: 134,392,069 (GRCm39) |
E880G |
probably benign |
Het |
| Hacd2 |
T |
A |
16: 34,922,477 (GRCm39) |
M222K |
probably damaging |
Het |
| Htr1b |
G |
T |
9: 81,514,652 (GRCm39) |
|
probably null |
Het |
| Htt |
T |
G |
5: 35,009,631 (GRCm39) |
|
probably null |
Het |
| Ifnab |
T |
G |
4: 88,609,133 (GRCm39) |
D111A |
probably benign |
Het |
| Igsf10 |
A |
T |
3: 59,227,053 (GRCm39) |
L2207I |
probably benign |
Het |
| Itln1 |
T |
C |
1: 171,358,166 (GRCm39) |
Y194C |
probably damaging |
Het |
| Kmt5b |
T |
A |
19: 3,865,043 (GRCm39) |
D702E |
probably damaging |
Het |
| Knop1 |
T |
C |
7: 118,449,860 (GRCm39) |
E382G |
unknown |
Het |
| Lrit3 |
A |
C |
3: 129,594,452 (GRCm39) |
L42V |
probably damaging |
Het |
| Mug2 |
A |
G |
6: 122,052,170 (GRCm39) |
E976G |
probably damaging |
Het |
| Or5an10 |
T |
C |
19: 12,275,996 (GRCm39) |
M167V |
probably benign |
Het |
| Or8g28 |
A |
T |
9: 39,169,518 (GRCm39) |
I150N |
possibly damaging |
Het |
| Or8s8 |
G |
A |
15: 98,354,949 (GRCm39) |
G253R |
probably damaging |
Het |
| Papln |
A |
T |
12: 83,827,436 (GRCm39) |
E758V |
probably damaging |
Het |
| Pcnx3 |
A |
C |
19: 5,728,960 (GRCm39) |
F967V |
possibly damaging |
Het |
| Pcnx4 |
G |
T |
12: 72,602,842 (GRCm39) |
C368F |
probably benign |
Het |
| Pi15 |
T |
A |
1: 17,673,105 (GRCm39) |
Y101* |
probably null |
Het |
| Ppp1r9a |
G |
A |
6: 4,905,894 (GRCm39) |
V150M |
possibly damaging |
Het |
| Prrt4 |
A |
T |
6: 29,176,900 (GRCm39) |
|
probably null |
Het |
| Ptgdr |
A |
G |
14: 45,090,828 (GRCm39) |
V310A |
probably benign |
Het |
| Ric1 |
G |
A |
19: 29,572,293 (GRCm39) |
S696N |
probably benign |
Het |
| Setx |
T |
A |
2: 29,037,430 (GRCm39) |
V1305D |
probably damaging |
Het |
| Slk |
G |
A |
19: 47,610,796 (GRCm39) |
R822H |
probably damaging |
Het |
| Tas2r135 |
T |
A |
6: 42,383,072 (GRCm39) |
F204I |
probably benign |
Het |
| Tmtc2 |
A |
G |
10: 105,409,568 (GRCm39) |
Y15H |
probably benign |
Het |
| Treml2 |
T |
C |
17: 48,615,168 (GRCm39) |
S218P |
probably benign |
Het |
| Tubb2a |
T |
C |
13: 34,258,554 (GRCm39) |
E412G |
probably damaging |
Het |
| Usp48 |
T |
G |
4: 137,333,060 (GRCm39) |
|
probably null |
Het |
| Vmn2r25 |
A |
T |
6: 123,805,431 (GRCm39) |
N475K |
probably damaging |
Het |
| Zscan4-ps1 |
G |
A |
7: 10,799,735 (GRCm39) |
H385Y |
probably benign |
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 |
|
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 |
|
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'- GCACAAATGGCAGCATAGTTTG -3'
(R):5'- ATAAGCCCACATACTGGCTCTG -3'
Sequencing Primer
(F):5'- GGCAGCATAGTTTGATTAAGTATGAG -3'
(R):5'- CTGGCTCTGATCAACTTTATCAATG -3'
|
| Posted On |
2020-06-22 |
Incidental Mutation