Incidental Mutation 'R0021:Tbc1d10a'
| ID |
218437 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d10a
|
| Ensembl Gene |
ENSMUSG00000034412 |
| Gene Name |
TBC1 domain family, member 10a |
| Synonyms |
EPI64, Tbc1d10 |
| MMRRC Submission |
038316-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0021 (G1)
|
| Quality Score |
22 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
4136789-4165505 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4163680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 277
(C277R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136453
(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: C311R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036861
Gene: ENSMUSG00000034412
AA Change: C311R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
36 |
N/A |
INTRINSIC |
|
TBC
|
142 |
359 |
6e-59 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135089
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147485
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149465
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151672
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000180088
AA Change: C277R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136453
Gene: ENSMUSG00000034412
AA Change: C277R
| Domain | Start | End | E-Value | Type |
|---|
|
TBC
|
108 |
325 |
6e-59 |
SMART |
|
| Meta Mutation Damage Score |
0.9673 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.8%
|
| Validation Efficiency |
97% (60/62) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310016G11Rik |
A |
G |
7: 44,326,620 (GRCm39) |
|
noncoding transcript |
Het |
| Abcc5 |
T |
A |
16: 20,197,411 (GRCm39) |
K647* |
probably null |
Het |
| Aplp1 |
A |
G |
7: 30,135,241 (GRCm39) |
|
probably benign |
Het |
| Arhgef25 |
A |
G |
10: 127,025,423 (GRCm39) |
I43T |
probably benign |
Het |
| Brinp3 |
T |
G |
1: 146,777,189 (GRCm39) |
S545R |
probably benign |
Het |
| Btnl1 |
A |
G |
17: 34,598,468 (GRCm39) |
E28G |
probably benign |
Het |
| C5ar2 |
A |
G |
7: 15,971,601 (GRCm39) |
F109L |
probably benign |
Het |
| D630045J12Rik |
G |
A |
6: 38,160,902 (GRCm39) |
Q1081* |
probably null |
Het |
| Dhx36 |
T |
C |
3: 62,385,016 (GRCm39) |
I699V |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 65,860,805 (GRCm39) |
I2855T |
probably benign |
Het |
| Dock8 |
T |
C |
19: 25,140,411 (GRCm39) |
I1317T |
probably benign |
Het |
| Galnt11 |
A |
T |
5: 25,453,855 (GRCm39) |
D27V |
probably damaging |
Het |
| Gm5134 |
T |
A |
10: 75,829,718 (GRCm39) |
C335S |
probably damaging |
Het |
| Hdhd2 |
A |
T |
18: 77,058,311 (GRCm39) |
K227N |
probably damaging |
Het |
| Impg1 |
A |
T |
9: 80,317,479 (GRCm39) |
L36Q |
probably damaging |
Het |
| Krtcap3 |
A |
G |
5: 31,410,303 (GRCm39) |
H227R |
probably benign |
Het |
| Lrrc7 |
A |
G |
3: 157,866,298 (GRCm39) |
Y1148H |
probably damaging |
Het |
| Map2k4 |
A |
G |
11: 65,603,110 (GRCm39) |
I174T |
probably damaging |
Het |
| Mef2c |
C |
A |
13: 83,804,359 (GRCm39) |
L282M |
probably damaging |
Het |
| Nkapd1 |
A |
C |
9: 50,521,725 (GRCm39) |
D65E |
probably damaging |
Het |
| Nqo2 |
T |
C |
13: 34,165,490 (GRCm39) |
I129T |
probably benign |
Het |
| Pdgfrb |
T |
A |
18: 61,197,998 (GRCm39) |
|
probably benign |
Het |
| Phf7 |
C |
T |
14: 30,960,443 (GRCm39) |
|
probably benign |
Het |
| Plac8 |
T |
A |
5: 100,704,434 (GRCm39) |
T88S |
probably benign |
Het |
| Pou2f1 |
G |
A |
1: 165,703,587 (GRCm39) |
T654M |
probably damaging |
Het |
| Ptprk |
T |
A |
10: 28,468,891 (GRCm39) |
V1425E |
probably damaging |
Het |
| Saal1 |
A |
T |
7: 46,342,316 (GRCm39) |
S376T |
probably damaging |
Het |
| Scart2 |
G |
A |
7: 139,876,310 (GRCm39) |
R594H |
probably benign |
Het |
| Serpini1 |
T |
C |
3: 75,526,620 (GRCm39) |
Y291H |
probably damaging |
Het |
| Siah2 |
T |
C |
3: 58,583,713 (GRCm39) |
H191R |
probably benign |
Het |
| Spaca6 |
T |
A |
17: 18,058,498 (GRCm39) |
Y39* |
probably null |
Het |
| Trim45 |
A |
T |
3: 100,832,736 (GRCm39) |
D323V |
probably damaging |
Het |
| Trim55 |
A |
C |
3: 19,698,866 (GRCm39) |
M32L |
probably benign |
Het |
| Unc5b |
T |
C |
10: 60,614,698 (GRCm39) |
T200A |
probably benign |
Het |
| Uqcc4 |
A |
G |
17: 25,403,957 (GRCm39) |
E99G |
possibly damaging |
Het |
| V1rd19 |
A |
T |
7: 23,703,029 (GRCm39) |
D165V |
probably damaging |
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 |
|
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 |
|
R9714:Tbc1d10a
|
UTSW |
11 |
4,163,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGGGACACTCAGCCCCATTG -3'
(R):5'- CCACGCGGAAGATGATCTTGACTC -3'
Sequencing Primer
(F):5'- CCATGTTGGCCCAGTACTAAGAG -3'
(R):5'- GGAAGATGATCTTGACTCCTGTATG -3'
|
| Posted On |
2014-08-08 |
Incidental Mutation