Incidental Mutation 'R0118:Tbc1d16'
| ID |
20943 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d16
|
| Ensembl Gene |
ENSMUSG00000039976 |
| Gene Name |
TBC1 domain family, member 16 |
| Synonyms |
|
| MMRRC Submission |
038404-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0118 (G1)
|
| Quality Score |
176 |
|
Status
|
Validated
(trace)
|
| Chromosome |
11 |
| Chromosomal Location |
119033871-119119325 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119048642 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 337
(H337R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147182
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036113]
[ENSMUST00000207655]
|
| AlphaFold |
A2ABG4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036113
AA Change: H337R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048516
Gene: ENSMUSG00000039976
AA Change: H337R
| 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 damaging
Transcript: ENSMUST00000207655
AA Change: H337R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.9086 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.2%
- 10x: 89.3%
- 20x: 67.4%
|
| Validation Efficiency |
98% (50/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts15 |
T |
C |
9: 30,823,040 (GRCm39) |
R343G |
probably damaging |
Het |
| Asxl2 |
T |
G |
12: 3,546,923 (GRCm39) |
V569G |
probably damaging |
Het |
| Azin2 |
A |
C |
4: 128,843,430 (GRCm39) |
H85Q |
probably damaging |
Het |
| Cacna1a |
C |
T |
8: 85,262,712 (GRCm39) |
R324C |
probably damaging |
Het |
| Ccr3 |
C |
A |
9: 123,829,647 (GRCm39) |
Y327* |
probably null |
Het |
| Cers2 |
T |
C |
3: 95,227,537 (GRCm39) |
F55S |
probably benign |
Het |
| Cic |
C |
T |
7: 24,985,459 (GRCm39) |
S301L |
probably damaging |
Het |
| Cntnap2 |
T |
C |
6: 45,037,326 (GRCm39) |
|
probably null |
Het |
| Cpn2 |
T |
C |
16: 30,079,186 (GRCm39) |
R172G |
probably benign |
Het |
| Ctdnep1 |
T |
C |
11: 69,879,557 (GRCm39) |
|
probably null |
Het |
| Dennd3 |
T |
A |
15: 73,436,925 (GRCm39) |
Y1051N |
probably damaging |
Het |
| Dmap1 |
T |
G |
4: 117,533,680 (GRCm39) |
Y196S |
probably damaging |
Het |
| Entpd7 |
G |
A |
19: 43,692,751 (GRCm39) |
W102* |
probably null |
Het |
| Frem2 |
A |
T |
3: 53,442,664 (GRCm39) |
C2624* |
probably null |
Het |
| Gdpd3 |
A |
G |
7: 126,370,165 (GRCm39) |
Y238C |
probably damaging |
Het |
| Gjb3 |
A |
G |
4: 127,220,451 (GRCm39) |
V27A |
probably damaging |
Het |
| Kat6b |
T |
C |
14: 21,720,042 (GRCm39) |
F1465L |
probably damaging |
Het |
| Klra17 |
A |
T |
6: 129,808,552 (GRCm39) |
M227K |
probably benign |
Het |
| Map6 |
A |
G |
7: 98,966,824 (GRCm39) |
D348G |
possibly damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,855,696 (GRCm39) |
S1472P |
probably benign |
Het |
| Megf6 |
C |
A |
4: 154,339,098 (GRCm39) |
P545Q |
probably damaging |
Het |
| Mertk |
C |
T |
2: 128,601,086 (GRCm39) |
R357W |
probably damaging |
Het |
| Mesd |
T |
A |
7: 83,544,835 (GRCm39) |
I104N |
probably damaging |
Het |
| Mrm3 |
T |
A |
11: 76,140,781 (GRCm39) |
V263E |
possibly damaging |
Het |
| Ndst4 |
T |
A |
3: 125,405,210 (GRCm39) |
Y488* |
probably null |
Het |
| Nfat5 |
C |
T |
8: 108,065,707 (GRCm39) |
R156W |
probably damaging |
Het |
| Nfs1 |
T |
C |
2: 155,976,444 (GRCm39) |
H150R |
probably damaging |
Het |
| Odad3 |
A |
T |
9: 21,906,353 (GRCm39) |
N224K |
probably benign |
Het |
| Or1n1b |
A |
G |
2: 36,780,035 (GRCm39) |
M275T |
probably benign |
Het |
| Or8b56 |
T |
C |
9: 38,739,154 (GRCm39) |
S50P |
possibly damaging |
Het |
| Or8g19 |
T |
A |
9: 39,055,399 (GRCm39) |
M1K |
probably null |
Het |
| Or9q1 |
A |
G |
19: 13,804,929 (GRCm39) |
F277S |
possibly damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,004,848 (GRCm39) |
Y1059C |
probably damaging |
Het |
| Pik3r5 |
T |
A |
11: 68,381,306 (GRCm39) |
L164Q |
probably damaging |
Het |
| Polr3g |
T |
C |
13: 81,824,240 (GRCm39) |
|
probably benign |
Het |
| Ppm1e |
T |
A |
11: 87,122,564 (GRCm39) |
K464N |
probably benign |
Het |
| Rims1 |
T |
C |
1: 22,416,631 (GRCm39) |
T1037A |
probably damaging |
Het |
| Rpgrip1l |
A |
T |
8: 91,996,750 (GRCm39) |
I108N |
probably damaging |
Het |
| Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,127,419 (GRCm39) |
|
probably benign |
Het |
| Spem1 |
T |
C |
11: 69,712,371 (GRCm39) |
K98E |
possibly damaging |
Het |
| St7l |
T |
C |
3: 104,796,619 (GRCm39) |
V237A |
probably damaging |
Het |
| Tbc1d32 |
T |
A |
10: 55,893,701 (GRCm39) |
I1291F |
probably benign |
Het |
| Tnfaip6 |
G |
T |
2: 51,933,827 (GRCm39) |
E61* |
probably null |
Het |
| Trib2 |
A |
T |
12: 15,843,929 (GRCm39) |
W102R |
probably damaging |
Het |
| Uimc1 |
G |
T |
13: 55,233,457 (GRCm39) |
N66K |
probably damaging |
Het |
| Vmn1r63 |
T |
A |
7: 5,805,838 (GRCm39) |
T265S |
probably benign |
Het |
| Vps35 |
G |
A |
8: 86,021,582 (GRCm39) |
T3I |
probably benign |
Het |
| Yeats2 |
T |
A |
16: 19,975,692 (GRCm39) |
L63* |
probably null |
Het |
| Zfp282 |
A |
G |
6: 47,869,866 (GRCm39) |
R304G |
probably benign |
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 |
|
|
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'- TGCTCAAAGTGACTTCCAGAAAGGC -3'
(R):5'- GCTGACAGCGGGCTCTGATTAAAC -3'
Sequencing Primer
(F):5'- CCCCCAAGAAGATGTGCTG -3'
(R):5'- TAAACTCGGAAATCAAAACCTGTG -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation