Incidental Mutation 'R9714:Tbc1d10a'
| ID |
730354 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d10a
|
| Ensembl Gene |
ENSMUSG00000034412 |
| Gene Name |
TBC1 domain family, member 10a |
| Synonyms |
EPI64, Tbc1d10 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9714 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
4136789-4165505 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 4163683 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 312
(A312S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036861
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020699]
[ENSMUST00000041042]
[ENSMUST00000180088]
|
| AlphaFold |
P58802 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020699
|
| SMART Domains |
Protein: ENSMUSP00000020699
Gene: ENSMUSG00000020424
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ACT_7
|
71 |
138 |
1.3e-19 |
PFAM |
|
Pfam:ACT_7
|
257 |
321 |
3.1e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041042
AA Change: A312S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000036861
Gene: ENSMUSG00000034412
AA Change: A312S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
36 |
N/A |
INTRINSIC |
|
TBC
|
142 |
359 |
6e-59 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000180088
AA Change: A278S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136453
Gene: ENSMUSG00000034412
AA Change: A278S
| Domain | Start | End | E-Value | Type |
|---|
|
TBC
|
108 |
325 |
6e-59 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased circulating LDL cholesterol levels, decreased circulating alanine transaminase and alkaline phosphatase levels, abnormal liver physiology, and increased chromosomal stability. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
C |
7: 120,030,383 (GRCm39) |
D165A |
probably benign |
Het |
| Abca3 |
T |
A |
17: 24,595,702 (GRCm39) |
C352S |
probably benign |
Het |
| AC157566.4 |
T |
C |
15: 76,418,354 (GRCm39) |
T52A |
probably benign |
Het |
| Cd19 |
T |
C |
7: 126,010,230 (GRCm39) |
I381V |
probably benign |
Het |
| Col17a1 |
C |
T |
19: 47,636,634 (GRCm39) |
V1374I |
unknown |
Het |
| Crb2 |
G |
A |
2: 37,681,215 (GRCm39) |
G686D |
probably damaging |
Het |
| Dok1 |
A |
G |
6: 83,008,275 (GRCm39) |
V469A |
probably benign |
Het |
| Glg1 |
A |
G |
8: 111,924,301 (GRCm39) |
L229S |
probably damaging |
Het |
| Hsd3b6 |
A |
G |
3: 98,713,645 (GRCm39) |
F218S |
probably benign |
Het |
| Kif1c |
T |
C |
11: 70,615,660 (GRCm39) |
V588A |
probably benign |
Het |
| Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
| Med13l |
T |
A |
5: 118,866,438 (GRCm39) |
D497E |
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,935,410 (GRCm39) |
F869L |
possibly damaging |
Het |
| Myo19 |
A |
G |
11: 84,773,542 (GRCm39) |
M1V |
probably null |
Het |
| Notum |
T |
C |
11: 120,551,019 (GRCm39) |
E49G |
probably benign |
Het |
| Nup153 |
G |
A |
13: 46,866,435 (GRCm39) |
T203I |
possibly damaging |
Het |
| Parvb |
G |
T |
15: 84,167,041 (GRCm39) |
G119C |
probably damaging |
Het |
| Pcdh10 |
G |
A |
3: 45,336,010 (GRCm39) |
A775T |
probably damaging |
Het |
| Pla2g4f |
C |
T |
2: 120,142,900 (GRCm39) |
R70Q |
probably benign |
Het |
| Plxna1 |
A |
T |
6: 89,296,440 (GRCm39) |
L1868Q |
probably damaging |
Het |
| Pmm2 |
T |
C |
16: 8,473,506 (GRCm39) |
L240P |
probably damaging |
Het |
| Ptprc |
T |
A |
1: 138,008,687 (GRCm39) |
T667S |
probably damaging |
Het |
| Rsad1 |
A |
G |
11: 94,435,298 (GRCm39) |
V263A |
probably benign |
Het |
| Sardh |
C |
T |
2: 27,079,641 (GRCm39) |
V884M |
possibly damaging |
Het |
| Slc35a5 |
T |
C |
16: 44,964,426 (GRCm39) |
E269G |
probably damaging |
Het |
| Slc35f3 |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
8: 127,115,781 (GRCm39) |
|
probably benign |
Het |
| Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
| Taf11 |
T |
C |
17: 28,122,136 (GRCm39) |
E116G |
probably damaging |
Het |
| Tiam1 |
T |
A |
16: 89,694,647 (GRCm39) |
H270L |
probably benign |
Het |
| Vmn2r31 |
T |
A |
7: 7,387,367 (GRCm39) |
I735F |
probably damaging |
Het |
| Vwf |
G |
A |
6: 125,601,536 (GRCm39) |
R826Q |
|
Het |
|
| Other mutations in Tbc1d10a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01317:Tbc1d10a
|
APN |
11 |
4,162,826 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02354:Tbc1d10a
|
APN |
11 |
4,165,047 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02361:Tbc1d10a
|
APN |
11 |
4,165,047 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03382:Tbc1d10a
|
APN |
11 |
4,159,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0021:Tbc1d10a
|
UTSW |
11 |
4,163,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0021:Tbc1d10a
|
UTSW |
11 |
4,163,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0194:Tbc1d10a
|
UTSW |
11 |
4,162,901 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0383:Tbc1d10a
|
UTSW |
11 |
4,162,819 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7388:Tbc1d10a
|
UTSW |
11 |
4,155,858 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7432:Tbc1d10a
|
UTSW |
11 |
4,163,016 (GRCm39) |
nonsense |
probably null |
|
|
R7811:Tbc1d10a
|
UTSW |
11 |
4,136,948 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8358:Tbc1d10a
|
UTSW |
11 |
4,155,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9147:Tbc1d10a
|
UTSW |
11 |
4,136,835 (GRCm39) |
missense |
unknown |
|
|
R9231:Tbc1d10a
|
UTSW |
11 |
4,164,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9475:Tbc1d10a
|
UTSW |
11 |
4,163,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGGCTCTGGCTACCTGATG -3'
(R):5'- ACGCGGAAGATGATCTTGAC -3'
Sequencing Primer
(F):5'- TCCATGTTGGCCCAGTACTAAGAG -3'
(R):5'- CGGAAGATGATCTTGACTCCTG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation