Incidental Mutation 'IGL01930:Tbc1d16'
| ID |
180397 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tbc1d16
|
| Ensembl Gene |
ENSMUSG00000039976 |
| Gene Name |
TBC1 domain family, member 16 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01930
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
119033871-119119325 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 119046901 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 449
(R449C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147182
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036113]
[ENSMUST00000207655]
|
| AlphaFold |
A2ABG4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036113
AA Change: R450C
PolyPhen 2
Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000048516
Gene: ENSMUSG00000039976
AA Change: R450C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
Blast:TBC
|
63 |
362 |
5e-75 |
BLAST |
|
Blast:TBC
|
373 |
418 |
2e-13 |
BLAST |
|
TBC
|
421 |
659 |
4.39e-43 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181119
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183965
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207655
AA Change: R449C
PolyPhen 2
Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433N12Rik |
C |
T |
9: 3,134,875 (GRCm39) |
|
noncoding transcript |
Het |
| Acsf3 |
A |
G |
8: 123,507,085 (GRCm39) |
Y126C |
probably benign |
Het |
| Akr1c20 |
T |
A |
13: 4,557,647 (GRCm39) |
|
probably benign |
Het |
| Cdan1 |
T |
C |
2: 120,557,063 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpg |
C |
T |
19: 6,361,398 (GRCm39) |
A308V |
probably damaging |
Het |
| Dek |
T |
C |
13: 47,241,611 (GRCm39) |
I318V |
probably benign |
Het |
| Dvl1 |
A |
G |
4: 155,940,645 (GRCm39) |
M422V |
possibly damaging |
Het |
| Dync2i1 |
A |
G |
12: 116,189,583 (GRCm39) |
|
probably null |
Het |
| Erbin |
G |
A |
13: 103,977,680 (GRCm39) |
L626F |
probably damaging |
Het |
| Fa2h |
A |
T |
8: 112,075,936 (GRCm39) |
V229E |
possibly damaging |
Het |
| Gfpt1 |
T |
A |
6: 87,036,397 (GRCm39) |
H193Q |
possibly damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gpr162 |
A |
G |
6: 124,838,575 (GRCm39) |
L25P |
possibly damaging |
Het |
| Hsd3b5 |
T |
C |
3: 98,529,475 (GRCm39) |
T52A |
probably benign |
Het |
| Megf8 |
T |
A |
7: 25,034,286 (GRCm39) |
V668D |
probably damaging |
Het |
| Or10j2 |
T |
C |
1: 173,098,177 (GRCm39) |
V145A |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,516,751 (GRCm39) |
T1042A |
probably damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,130,857 (GRCm39) |
S735P |
probably damaging |
Het |
| Serpina3n |
T |
A |
12: 104,375,231 (GRCm39) |
L101H |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,145,978 (GRCm39) |
D1674G |
probably damaging |
Het |
| Sval3 |
A |
G |
6: 41,949,455 (GRCm39) |
N98D |
probably benign |
Het |
| Tm7sf3 |
A |
C |
6: 146,512,431 (GRCm39) |
I321S |
possibly damaging |
Het |
| Tmem273 |
G |
A |
14: 32,538,814 (GRCm39) |
E92K |
probably benign |
Het |
| Trappc13 |
A |
G |
13: 104,284,586 (GRCm39) |
|
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wdr76 |
A |
G |
2: 121,341,303 (GRCm39) |
D116G |
possibly damaging |
Het |
| Zscan18 |
T |
C |
7: 12,509,275 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tbc1d16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01973:Tbc1d16
|
APN |
11 |
119,047,533 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02456:Tbc1d16
|
APN |
11 |
119,101,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8441:Tbc1d16
|
UTSW |
11 |
119,039,840 (GRCm39) |
nonsense |
probably null |
|
|
R0118:Tbc1d16
|
UTSW |
11 |
119,048,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0255:Tbc1d16
|
UTSW |
11 |
119,038,401 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0330:Tbc1d16
|
UTSW |
11 |
119,049,555 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0620:Tbc1d16
|
UTSW |
11 |
119,099,864 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1502:Tbc1d16
|
UTSW |
11 |
119,044,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1806:Tbc1d16
|
UTSW |
11 |
119,046,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2163:Tbc1d16
|
UTSW |
11 |
119,045,904 (GRCm39) |
splice site |
probably benign |
|
|
R2897:Tbc1d16
|
UTSW |
11 |
119,048,654 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2898:Tbc1d16
|
UTSW |
11 |
119,048,654 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4454:Tbc1d16
|
UTSW |
11 |
119,048,699 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5193:Tbc1d16
|
UTSW |
11 |
119,049,646 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5465:Tbc1d16
|
UTSW |
11 |
119,046,885 (GRCm39) |
missense |
probably benign |
|
|
R5478:Tbc1d16
|
UTSW |
11 |
119,045,917 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5642:Tbc1d16
|
UTSW |
11 |
119,049,617 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5721:Tbc1d16
|
UTSW |
11 |
119,049,556 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6195:Tbc1d16
|
UTSW |
11 |
119,101,391 (GRCm39) |
nonsense |
probably null |
|
|
R6233:Tbc1d16
|
UTSW |
11 |
119,101,391 (GRCm39) |
nonsense |
probably null |
|
|
R6596:Tbc1d16
|
UTSW |
11 |
119,048,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6932:Tbc1d16
|
UTSW |
11 |
119,099,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7023:Tbc1d16
|
UTSW |
11 |
119,049,617 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7262:Tbc1d16
|
UTSW |
11 |
119,045,921 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8006:Tbc1d16
|
UTSW |
11 |
119,046,898 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8506:Tbc1d16
|
UTSW |
11 |
119,039,784 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8532:Tbc1d16
|
UTSW |
11 |
119,045,993 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8753:Tbc1d16
|
UTSW |
11 |
119,101,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8839:Tbc1d16
|
UTSW |
11 |
119,047,474 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9049:Tbc1d16
|
UTSW |
11 |
119,100,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9104:Tbc1d16
|
UTSW |
11 |
119,038,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9378:Tbc1d16
|
UTSW |
11 |
119,099,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9461:Tbc1d16
|
UTSW |
11 |
119,044,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9498:Tbc1d16
|
UTSW |
11 |
119,048,681 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9544:Tbc1d16
|
UTSW |
11 |
119,101,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9588:Tbc1d16
|
UTSW |
11 |
119,101,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation