Incidental Mutation 'H8441:Tbc1d16'
| ID |
82556 |
| Institutional Source |
Beutler Lab
|
| 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 # |
H8441 (G3)
of strain
599
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
119033871-119119325 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 119039840 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 656
(E656*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147182
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036113]
[ENSMUST00000207655]
|
| AlphaFold |
A2ABG4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000036113
AA Change: E657*
|
| SMART Domains |
Protein: ENSMUSP00000048516
Gene: ENSMUSG00000039976
AA Change: E657*
| 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 |
probably null
Transcript: ENSMUST00000207655
AA Change: E656*
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts2 |
A |
C |
11: 50,675,505 (GRCm39) |
D677A |
probably damaging |
Het |
| Dido1 |
G |
T |
2: 180,330,807 (GRCm39) |
Q214K |
probably benign |
Het |
| H2-T5 |
T |
A |
17: 36,478,874 (GRCm39) |
Q125L |
possibly damaging |
Het |
| Itgbl1 |
A |
G |
14: 124,210,699 (GRCm39) |
N342D |
probably damaging |
Het |
| Mlxipl |
T |
C |
5: 135,152,815 (GRCm39) |
I282T |
probably damaging |
Het |
| Or6b13 |
C |
T |
7: 139,781,871 (GRCm39) |
D271N |
possibly damaging |
Het |
| Pes1 |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
11: 3,927,636 (GRCm39) |
|
probably benign |
Het |
| Phf2 |
C |
T |
13: 48,957,841 (GRCm39) |
A1058T |
possibly damaging |
Het |
| Pja2 |
T |
C |
17: 64,618,192 (GRCm39) |
D69G |
probably damaging |
Het |
| Pnmt |
G |
A |
11: 98,278,513 (GRCm39) |
A160T |
probably benign |
Het |
| Pomgnt2 |
T |
G |
9: 121,811,650 (GRCm39) |
Y377S |
probably damaging |
Het |
| Scn11a |
T |
A |
9: 119,636,976 (GRCm39) |
I242F |
probably damaging |
Het |
| Slc7a1 |
C |
T |
5: 148,271,355 (GRCm39) |
V535M |
probably benign |
Het |
| Stk32b |
T |
C |
5: 37,614,578 (GRCm39) |
D310G |
probably damaging |
Het |
| Sult3a2 |
A |
T |
10: 33,642,474 (GRCm39) |
H276Q |
probably benign |
Het |
| Susd5 |
A |
T |
9: 113,925,253 (GRCm39) |
K379* |
probably null |
Het |
| Tcp10b |
T |
C |
17: 13,289,748 (GRCm39) |
S234P |
probably damaging |
Het |
| Vmo1 |
A |
G |
11: 70,404,572 (GRCm39) |
F143S |
probably damaging |
Het |
| Zfp609 |
T |
C |
9: 65,702,169 (GRCm39) |
E161G |
possibly damaging |
Het |
|
| Other mutations in Tbc1d16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01930:Tbc1d16
|
APN |
11 |
119,046,901 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGTATCAGGGCTCAGTAACAGGG -3'
(R):5'- TGGTTGGGAAATGACAGGCCAC -3'
Sequencing Primer
(F):5'- GAATTCCTAGAACCCCTTGTCC -3'
(R):5'- GTCAGGATTGAAGACTTTCAGC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation