Incidental Mutation 'IGL00594:Tbc1d12'
| ID |
5668 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tbc1d12
|
| Ensembl Gene |
ENSMUSG00000048720 |
| Gene Name |
TBC1D12: TBC1 domain family, member 12 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.619)
|
| Stock # |
IGL00594
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
38825035-38908103 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38884487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 346
(E346G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037884
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037302]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037302
AA Change: E346G
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000037884
Gene: ENSMUSG00000048720
AA Change: E346G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
211 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
242 |
N/A |
INTRINSIC |
|
Blast:TBC
|
321 |
371 |
7e-14 |
BLAST |
|
TBC
|
404 |
638 |
1.05e-54 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130010J15Rik |
A |
G |
1: 192,857,109 (GRCm39) |
T154A |
probably benign |
Het |
| Acox1 |
A |
G |
11: 116,065,331 (GRCm39) |
|
probably benign |
Het |
| Adgrg2 |
G |
A |
X: 159,268,773 (GRCm39) |
V677I |
probably benign |
Het |
| Aifm1 |
T |
C |
X: 47,570,976 (GRCm39) |
T386A |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,415,160 (GRCm39) |
|
probably benign |
Het |
| Fgfr2 |
A |
G |
7: 129,830,453 (GRCm39) |
V175A |
probably damaging |
Het |
| Gm382 |
T |
C |
X: 125,970,775 (GRCm39) |
Y987H |
probably benign |
Het |
| Golga3 |
A |
T |
5: 110,352,841 (GRCm39) |
M911L |
probably benign |
Het |
| Hmgxb3 |
A |
G |
18: 61,290,811 (GRCm39) |
V354A |
probably benign |
Het |
| Ifne |
T |
C |
4: 88,798,041 (GRCm39) |
N126D |
probably benign |
Het |
| Igkv3-7 |
T |
C |
6: 70,584,807 (GRCm39) |
V49A |
possibly damaging |
Het |
| Kbtbd8 |
A |
T |
6: 95,103,494 (GRCm39) |
Y381F |
probably damaging |
Het |
| Klc1 |
C |
T |
12: 111,743,318 (GRCm39) |
T215M |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,316,624 (GRCm39) |
V2119E |
probably benign |
Het |
| Lrrc7 |
A |
G |
3: 157,892,647 (GRCm39) |
V322A |
probably benign |
Het |
| Mageb5b |
C |
T |
X: 90,679,091 (GRCm39) |
Q348* |
probably null |
Het |
| Ms4a14 |
A |
G |
19: 11,278,983 (GRCm39) |
S1192P |
possibly damaging |
Het |
| Ndufaf6 |
T |
C |
4: 11,062,127 (GRCm39) |
Y168C |
probably damaging |
Het |
| Plcg2 |
C |
T |
8: 118,282,810 (GRCm39) |
T97I |
possibly damaging |
Het |
| Rasgrp4 |
T |
C |
7: 28,847,966 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,083,777 (GRCm39) |
H515R |
probably benign |
Het |
| Rpn1 |
G |
T |
6: 88,072,611 (GRCm39) |
R318L |
probably damaging |
Het |
| Shroom2 |
A |
T |
X: 151,396,512 (GRCm39) |
F1359Y |
probably damaging |
Het |
| Tars3 |
T |
A |
7: 65,325,880 (GRCm39) |
|
probably null |
Het |
| Tbccd1 |
A |
G |
16: 22,641,294 (GRCm39) |
F361S |
possibly damaging |
Het |
| Tenm1 |
G |
T |
X: 41,803,913 (GRCm39) |
P837T |
probably benign |
Het |
| Tmem144 |
A |
G |
3: 79,746,474 (GRCm39) |
V27A |
probably benign |
Het |
| Zfp616 |
T |
A |
11: 73,973,789 (GRCm39) |
N19K |
possibly damaging |
Het |
| Zkscan7 |
T |
C |
9: 122,724,659 (GRCm39) |
Y543H |
possibly damaging |
Het |
|
| Other mutations in Tbc1d12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01583:Tbc1d12
|
APN |
19 |
38,871,176 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01667:Tbc1d12
|
APN |
19 |
38,902,744 (GRCm39) |
splice site |
probably benign |
|
|
IGL02207:Tbc1d12
|
APN |
19 |
38,905,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03348:Tbc1d12
|
APN |
19 |
38,905,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0844:Tbc1d12
|
UTSW |
19 |
38,825,515 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0919:Tbc1d12
|
UTSW |
19 |
38,902,493 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1440:Tbc1d12
|
UTSW |
19 |
38,902,796 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1845:Tbc1d12
|
UTSW |
19 |
38,899,529 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2374:Tbc1d12
|
UTSW |
19 |
38,825,614 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3499:Tbc1d12
|
UTSW |
19 |
38,884,478 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4704:Tbc1d12
|
UTSW |
19 |
38,889,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4965:Tbc1d12
|
UTSW |
19 |
38,854,169 (GRCm39) |
nonsense |
probably null |
|
|
R5089:Tbc1d12
|
UTSW |
19 |
38,905,232 (GRCm39) |
nonsense |
probably null |
|
|
R5781:Tbc1d12
|
UTSW |
19 |
38,871,127 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7237:Tbc1d12
|
UTSW |
19 |
38,887,346 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7978:Tbc1d12
|
UTSW |
19 |
38,905,285 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8283:Tbc1d12
|
UTSW |
19 |
38,825,353 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8304:Tbc1d12
|
UTSW |
19 |
38,825,824 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8376:Tbc1d12
|
UTSW |
19 |
38,889,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8931:Tbc1d12
|
UTSW |
19 |
38,854,098 (GRCm39) |
missense |
probably benign |
|
|
R8944:Tbc1d12
|
UTSW |
19 |
38,899,510 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9206:Tbc1d12
|
UTSW |
19 |
38,825,442 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9252:Tbc1d12
|
UTSW |
19 |
38,899,477 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9258:Tbc1d12
|
UTSW |
19 |
38,889,823 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9430:Tbc1d12
|
UTSW |
19 |
38,884,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9434:Tbc1d12
|
UTSW |
19 |
38,902,461 (GRCm39) |
missense |
probably benign |
0.05 |
|
RF010:Tbc1d12
|
UTSW |
19 |
38,825,384 (GRCm39) |
small deletion |
probably benign |
|
|
RF011:Tbc1d12
|
UTSW |
19 |
38,825,401 (GRCm39) |
small deletion |
probably benign |
|
|
RF039:Tbc1d12
|
UTSW |
19 |
38,825,401 (GRCm39) |
small deletion |
probably benign |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation