Incidental Mutation 'R5721:Tbc1d16'
| ID |
451454 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d16
|
| Ensembl Gene |
ENSMUSG00000039976 |
| Gene Name |
TBC1 domain family, member 16 |
| Synonyms |
|
| MMRRC Submission |
043189-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5721 (G1)
|
| Quality Score |
191 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
119033871-119119325 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 119049556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147182
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036113]
[ENSMUST00000207655]
|
| AlphaFold |
A2ABG4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000036113
|
| SMART Domains |
Protein: ENSMUSP00000048516
Gene: ENSMUSG00000039976
| 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 |
probably null
Transcript: ENSMUST00000207655
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
A |
T |
15: 84,844,798 (GRCm39) |
V30D |
probably damaging |
Het |
| Atl3 |
T |
A |
19: 7,506,376 (GRCm39) |
M302K |
probably benign |
Het |
| Ccdc91 |
C |
G |
6: 147,477,001 (GRCm39) |
L230V |
unknown |
Het |
| Ciz1 |
C |
T |
2: 32,266,052 (GRCm39) |
T39I |
probably damaging |
Het |
| Cog8 |
T |
C |
8: 107,776,780 (GRCm39) |
T532A |
probably benign |
Het |
| Ctsr |
C |
T |
13: 61,309,667 (GRCm39) |
G181S |
possibly damaging |
Het |
| Drc7 |
T |
C |
8: 95,800,961 (GRCm39) |
|
probably null |
Het |
| Dvl2 |
A |
G |
11: 69,896,819 (GRCm39) |
R238G |
possibly damaging |
Het |
| Faf1 |
T |
C |
4: 109,792,863 (GRCm39) |
F612L |
probably benign |
Het |
| Fbxo40 |
T |
A |
16: 36,789,296 (GRCm39) |
M605L |
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gprc6a |
A |
T |
10: 51,491,076 (GRCm39) |
M716K |
probably benign |
Het |
| Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
| Ift70a1 |
A |
T |
2: 75,811,715 (GRCm39) |
Y123N |
probably damaging |
Het |
| Jcad |
A |
T |
18: 4,676,044 (GRCm39) |
T1269S |
possibly damaging |
Het |
| Kif23 |
C |
G |
9: 61,851,498 (GRCm39) |
G66A |
probably benign |
Het |
| Lrrd1 |
T |
C |
5: 3,900,619 (GRCm39) |
M308T |
probably benign |
Het |
| Lsg1 |
C |
T |
16: 30,380,593 (GRCm39) |
A615T |
probably benign |
Het |
| Mcph1 |
G |
A |
8: 18,721,223 (GRCm39) |
V684M |
probably damaging |
Het |
| Mpv17l |
T |
C |
16: 13,764,658 (GRCm39) |
Y62H |
probably damaging |
Het |
| Or10a5 |
T |
C |
7: 106,635,565 (GRCm39) |
S68P |
probably damaging |
Het |
| Or13d1 |
G |
T |
4: 52,971,068 (GRCm39) |
W149L |
probably damaging |
Het |
| Osgepl1 |
A |
T |
1: 53,360,359 (GRCm39) |
M362L |
possibly damaging |
Het |
| P2ry14 |
T |
C |
3: 59,022,452 (GRCm39) |
|
probably null |
Het |
| Pacsin3 |
T |
A |
2: 91,094,580 (GRCm39) |
C402S |
probably damaging |
Het |
| Papss2 |
A |
G |
19: 32,638,064 (GRCm39) |
Y392C |
probably damaging |
Het |
| Plekha8 |
T |
A |
6: 54,590,091 (GRCm39) |
W19R |
probably damaging |
Het |
| Prdm15 |
A |
T |
16: 97,608,296 (GRCm39) |
I667N |
possibly damaging |
Het |
| Rab11fip2 |
A |
G |
19: 59,924,042 (GRCm39) |
S279P |
probably damaging |
Het |
| Slc6a20b |
C |
A |
9: 123,441,054 (GRCm39) |
G131C |
probably null |
Het |
| Suox |
T |
C |
10: 128,507,162 (GRCm39) |
I289V |
possibly damaging |
Het |
| Tmem269 |
T |
C |
4: 119,067,146 (GRCm39) |
T146A |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,558,911 (GRCm39) |
R29657W |
probably damaging |
Het |
| Vmn1r84 |
C |
A |
7: 12,096,153 (GRCm39) |
C168F |
probably damaging |
Het |
| Zc3h7b |
T |
C |
15: 81,657,499 (GRCm39) |
F180L |
probably benign |
Het |
| Zfand4 |
C |
G |
6: 116,264,956 (GRCm39) |
D140E |
probably 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 |
|
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 |
|
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'- TTTCCTGAAGGCCACCTACC -3'
(R):5'- AGCATAGCACAGAAATATGAGATCC -3'
Sequencing Primer
(F):5'- GAAGGCCACCTACCCTTCG -3'
(R):5'- TATGAGATCCTCACACCACCTCCTC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation