Incidental Mutation 'R6596:Tbc1d16'
ID |
525998 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d16
|
Ensembl Gene |
ENSMUSG00000039976 |
Gene Name |
TBC1 domain family, member 16 |
Synonyms |
|
MMRRC Submission |
044720-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6596 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
119033871-119119325 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 119048601 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Glycine
at position 351
(W351G)
|
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: W351G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000048516 Gene: ENSMUSG00000039976 AA Change: W351G
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: W351G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9630041A04Rik |
T |
A |
9: 101,819,984 (GRCm39) |
C135S |
possibly damaging |
Het |
Bag4 |
C |
T |
8: 26,259,528 (GRCm39) |
D224N |
probably damaging |
Het |
Cldn15 |
T |
A |
5: 137,003,533 (GRCm39) |
C178* |
probably null |
Het |
Col7a1 |
C |
A |
9: 108,783,409 (GRCm39) |
|
probably benign |
Het |
Crnn |
G |
A |
3: 93,054,182 (GRCm39) |
E22K |
probably damaging |
Het |
Dcstamp |
A |
C |
15: 39,617,605 (GRCm39) |
T5P |
possibly damaging |
Het |
Dennd4a |
A |
G |
9: 64,759,702 (GRCm39) |
Y269C |
probably damaging |
Het |
Dsg1c |
T |
A |
18: 20,403,581 (GRCm39) |
|
probably null |
Het |
Duox2 |
C |
T |
2: 122,115,819 (GRCm39) |
V972I |
probably benign |
Het |
Eif1ad15 |
C |
A |
12: 88,288,057 (GRCm39) |
L65F |
possibly damaging |
Het |
Ephb1 |
A |
C |
9: 102,072,001 (GRCm39) |
Y259* |
probably null |
Het |
Fam149a |
G |
T |
8: 45,834,667 (GRCm39) |
T44K |
probably benign |
Het |
Fn1 |
A |
G |
1: 71,648,641 (GRCm39) |
Y1423H |
probably damaging |
Het |
Garem1 |
T |
A |
18: 21,281,796 (GRCm39) |
I187F |
probably damaging |
Het |
Gfm2 |
C |
T |
13: 97,301,657 (GRCm39) |
P487S |
probably damaging |
Het |
Hyou1 |
A |
G |
9: 44,299,052 (GRCm39) |
E625G |
probably benign |
Het |
Kmt5a |
G |
A |
5: 124,588,759 (GRCm39) |
V121M |
probably benign |
Het |
Mindy4 |
T |
C |
6: 55,201,001 (GRCm39) |
S229P |
probably damaging |
Het |
Muc16 |
T |
C |
9: 18,478,011 (GRCm39) |
D7098G |
probably benign |
Het |
Nsf |
A |
T |
11: 103,801,283 (GRCm39) |
I244N |
probably damaging |
Het |
Obox1 |
C |
T |
7: 15,289,301 (GRCm39) |
S72L |
probably damaging |
Het |
Or4b1 |
T |
A |
2: 89,979,622 (GRCm39) |
T243S |
possibly damaging |
Het |
Or5d38 |
C |
T |
2: 87,954,543 (GRCm39) |
C262Y |
probably damaging |
Het |
Pcdhb7 |
A |
T |
18: 37,476,414 (GRCm39) |
I517F |
probably damaging |
Het |
Plk2 |
C |
T |
13: 110,534,296 (GRCm39) |
A292V |
probably benign |
Het |
Pomgnt2 |
T |
C |
9: 121,811,320 (GRCm39) |
E487G |
possibly damaging |
Het |
Rasgrf1 |
A |
T |
9: 89,894,847 (GRCm39) |
N1089I |
possibly damaging |
Het |
Robo2 |
T |
A |
16: 73,767,996 (GRCm39) |
N603Y |
probably damaging |
Het |
Slc35f4 |
G |
A |
14: 49,763,057 (GRCm39) |
A5V |
probably damaging |
Het |
Smc4 |
A |
T |
3: 68,933,226 (GRCm39) |
I616F |
probably damaging |
Het |
Sorl1 |
T |
G |
9: 41,912,899 (GRCm39) |
N1361H |
possibly damaging |
Het |
Syngr1 |
C |
T |
15: 79,995,893 (GRCm39) |
T144M |
probably damaging |
Het |
Tbx15 |
A |
G |
3: 99,259,508 (GRCm39) |
S460G |
probably benign |
Het |
Tns2 |
G |
A |
15: 102,018,994 (GRCm39) |
R395Q |
probably benign |
Het |
Tpte |
T |
C |
8: 22,823,285 (GRCm39) |
L304P |
probably damaging |
Het |
Tubgcp5 |
T |
A |
7: 55,456,382 (GRCm39) |
F325I |
probably benign |
Het |
Ucp3 |
A |
T |
7: 100,131,140 (GRCm39) |
I198F |
probably benign |
Het |
Vit |
T |
C |
17: 78,930,274 (GRCm39) |
V413A |
probably benign |
Het |
Xrcc6 |
T |
C |
15: 81,907,155 (GRCm39) |
M1T |
probably null |
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 |
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 |
|
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'- AGCCAAATGCCATTCTCCTC -3'
(R):5'- CAGCGGGCTCTGATTAAACTC -3'
Sequencing Primer
(F):5'- AAATGCCATTCTCCTCAGAGGGG -3'
(R):5'- CGGGCTCTGATTAAACTCGGAAATC -3'
|
Posted On |
2018-06-22 |