Incidental Mutation 'R9440:Tcaf3'
| ID |
713585 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcaf3
|
| Ensembl Gene |
ENSMUSG00000018656 |
| Gene Name |
TRPM8 channel-associated factor 3 |
| Synonyms |
Eapa2, Fam115e |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R9440 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
42564147-42574306 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 42573906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 102
(L102*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069023]
[ENSMUST00000134707]
|
| AlphaFold |
Q6QR59 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000069023
AA Change: L102*
|
| SMART Domains |
Protein: ENSMUSP00000064060
Gene: ENSMUSG00000018656
AA Change: L102*
| 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
AA Change: L102*
|
| SMART Domains |
Protein: ENSMUSP00000123321
Gene: ENSMUSG00000018656
AA Change: L102*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
210 |
221 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
G |
A |
17: 24,499,452 (GRCm39) |
T1359M |
probably benign |
Het |
| Acacb |
T |
A |
5: 114,384,085 (GRCm39) |
C2205S |
possibly damaging |
Het |
| Akap3 |
A |
G |
6: 126,841,591 (GRCm39) |
E70G |
probably benign |
Het |
| Aldh1a3 |
C |
A |
7: 66,068,992 (GRCm39) |
|
probably null |
Het |
| Asb4 |
A |
G |
6: 5,429,817 (GRCm39) |
I352M |
probably benign |
Het |
| Bach1 |
C |
G |
16: 87,516,603 (GRCm39) |
S381R |
probably benign |
Het |
| BC034090 |
A |
G |
1: 155,101,961 (GRCm39) |
L101P |
probably benign |
Het |
| Bms1 |
A |
T |
6: 118,382,217 (GRCm39) |
D440E |
probably benign |
Het |
| Bpifb6 |
A |
T |
2: 153,747,914 (GRCm39) |
D191V |
probably benign |
Het |
| Cfap298 |
A |
T |
16: 90,726,832 (GRCm39) |
V116E |
probably benign |
Het |
| Cfd |
T |
C |
10: 79,726,816 (GRCm39) |
|
probably null |
Het |
| Cnot3 |
G |
A |
7: 3,656,560 (GRCm39) |
E252K |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,707,068 (GRCm39) |
D2622G |
unknown |
Het |
| Crybg2 |
T |
C |
4: 133,801,602 (GRCm39) |
S612P |
probably benign |
Het |
| Cyp4b1 |
T |
C |
4: 115,493,581 (GRCm39) |
K167R |
probably damaging |
Het |
| Gbp3 |
T |
C |
3: 142,272,335 (GRCm39) |
V279A |
possibly damaging |
Het |
| Gipc2 |
T |
C |
3: 151,833,706 (GRCm39) |
T192A |
possibly damaging |
Het |
| Gm3285 |
T |
C |
10: 77,697,911 (GRCm39) |
V20A |
|
Het |
| Gorasp2 |
T |
C |
2: 70,541,469 (GRCm39) |
|
probably null |
Het |
| Gpr179 |
A |
G |
11: 97,229,315 (GRCm39) |
S947P |
probably benign |
Het |
| Klra5 |
C |
A |
6: 129,883,686 (GRCm39) |
W147L |
possibly damaging |
Het |
| Lrch4 |
G |
A |
5: 137,636,051 (GRCm39) |
R368Q |
probably damaging |
Het |
| Mamdc4 |
A |
G |
2: 25,455,600 (GRCm39) |
V876A |
probably benign |
Het |
| Marf1 |
A |
C |
16: 13,938,196 (GRCm39) |
D1433E |
probably benign |
Het |
| Mcm4 |
A |
T |
16: 15,453,175 (GRCm39) |
C171* |
probably null |
Het |
| Micall1 |
C |
T |
15: 79,011,159 (GRCm39) |
P510S |
|
Het |
| Morc3 |
A |
G |
16: 93,649,975 (GRCm39) |
|
probably null |
Het |
| Mrpl28 |
G |
T |
17: 26,345,266 (GRCm39) |
V229F |
possibly damaging |
Het |
| Mrps33 |
A |
T |
6: 39,782,364 (GRCm39) |
Y52* |
probably null |
Het |
| Mybphl |
T |
C |
3: 108,282,202 (GRCm39) |
I144T |
probably benign |
Het |
| Myom1 |
A |
G |
17: 71,433,329 (GRCm39) |
M1657V |
probably benign |
Het |
| Ogfr |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
2: 180,236,850 (GRCm39) |
|
probably benign |
Het |
| Or5p67 |
A |
G |
7: 107,922,037 (GRCm39) |
I282T |
probably benign |
Het |
| Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Plxna1 |
T |
C |
6: 89,318,912 (GRCm39) |
K637R |
probably benign |
Het |
| Prob1 |
G |
T |
18: 35,786,218 (GRCm39) |
L679I |
possibly damaging |
Het |
| Sgms2 |
C |
A |
3: 131,118,718 (GRCm39) |
C255F |
probably damaging |
Het |
| Slc17a9 |
T |
C |
2: 180,383,090 (GRCm39) |
C399R |
probably benign |
Het |
| Smc4 |
T |
A |
3: 68,915,455 (GRCm39) |
|
probably null |
Het |
| St14 |
A |
G |
9: 31,007,845 (GRCm39) |
L578P |
probably damaging |
Het |
| Tex15 |
A |
G |
8: 34,072,273 (GRCm39) |
T2607A |
possibly damaging |
Het |
| Trav15-2-dv6-2 |
T |
A |
14: 53,886,932 (GRCm39) |
|
probably benign |
Het |
| Trip4 |
T |
C |
9: 65,760,234 (GRCm39) |
|
probably null |
Het |
| Ttf1 |
A |
G |
2: 28,955,709 (GRCm39) |
I358V |
probably benign |
Het |
| Uroc1 |
C |
A |
6: 90,322,353 (GRCm39) |
S292R |
possibly damaging |
Het |
| Vmn1r5 |
T |
C |
6: 56,962,415 (GRCm39) |
I30T |
possibly damaging |
Het |
| Vps33a |
A |
T |
5: 123,703,047 (GRCm39) |
I192N |
probably damaging |
Het |
| Vps50 |
A |
G |
6: 3,516,724 (GRCm39) |
I69V |
probably benign |
Het |
| Wdr97 |
T |
C |
15: 76,245,064 (GRCm39) |
S1176P |
|
Het |
| Xirp1 |
G |
A |
9: 119,847,203 (GRCm39) |
T560M |
probably damaging |
Het |
| Zfp512 |
A |
T |
5: 31,628,359 (GRCm39) |
T266S |
possibly 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 |
|
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 |
|
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 |
|
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'- ATAGCACTTTATCATGGCCATGG -3'
(R):5'- AGTCAGCCTTCCCAGTGATG -3'
Sequencing Primer
(F):5'- ATGGTGAGCAGCCCAATTC -3'
(R):5'- CCTTCCCAGTGATGGTGAATGAC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation