Incidental Mutation 'IGL01977:Tbc1d14'
ID |
181712 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tbc1d14
|
Ensembl Gene |
ENSMUSG00000029192 |
Gene Name |
TBC1 domain family, member 14 |
Synonyms |
2810413P16Rik, D5Ertd110e |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01977
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
36647948-36743611 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36662381 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 302
(Y302C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131876
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031094]
[ENSMUST00000124036]
[ENSMUST00000126077]
[ENSMUST00000130417]
[ENSMUST00000136189]
[ENSMUST00000140607]
[ENSMUST00000171385]
[ENSMUST00000150813]
[ENSMUST00000146430]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031094
AA Change: Y583C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031094 Gene: ENSMUSG00000029192 AA Change: Y583C
Domain | Start | End | E-Value | Type |
low complexity region
|
159 |
174 |
N/A |
INTRINSIC |
Blast:TBC
|
316 |
375 |
1e-8 |
BLAST |
TBC
|
399 |
635 |
1.49e-54 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000124036
AA Change: Y603C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117414 Gene: ENSMUSG00000029192 AA Change: Y603C
Domain | Start | End | E-Value | Type |
low complexity region
|
179 |
194 |
N/A |
INTRINSIC |
Blast:TBC
|
336 |
395 |
1e-8 |
BLAST |
TBC
|
419 |
655 |
1.49e-54 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000126077
AA Change: Y302C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114508 Gene: ENSMUSG00000029192 AA Change: Y302C
Domain | Start | End | E-Value | Type |
Blast:TBC
|
35 |
94 |
5e-9 |
BLAST |
TBC
|
118 |
354 |
1.49e-54 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000130417
AA Change: Y603C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116519 Gene: ENSMUSG00000029192 AA Change: Y603C
Domain | Start | End | E-Value | Type |
low complexity region
|
179 |
194 |
N/A |
INTRINSIC |
Blast:TBC
|
336 |
395 |
1e-8 |
BLAST |
TBC
|
419 |
655 |
1.49e-54 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000136189
AA Change: Y507C
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000115467 Gene: ENSMUSG00000029192 AA Change: Y507C
Domain | Start | End | E-Value | Type |
low complexity region
|
159 |
174 |
N/A |
INTRINSIC |
Blast:TBC
|
247 |
322 |
1e-32 |
BLAST |
TBC
|
399 |
559 |
8.9e-5 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000140607
AA Change: Y583C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121516 Gene: ENSMUSG00000029192 AA Change: Y583C
Domain | Start | End | E-Value | Type |
low complexity region
|
159 |
174 |
N/A |
INTRINSIC |
Blast:TBC
|
316 |
375 |
1e-8 |
BLAST |
TBC
|
399 |
635 |
1.49e-54 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149157
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171385
AA Change: Y302C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131876 Gene: ENSMUSG00000029192 AA Change: Y302C
Domain | Start | End | E-Value | Type |
Blast:TBC
|
35 |
94 |
5e-9 |
BLAST |
TBC
|
118 |
354 |
1.49e-54 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000150813
AA Change: Y302C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115926 Gene: ENSMUSG00000029192 AA Change: Y302C
Domain | Start | End | E-Value | Type |
Blast:TBC
|
35 |
94 |
3e-9 |
BLAST |
TBC
|
118 |
305 |
1.08e-10 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000146430
AA Change: Y583C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121816 Gene: ENSMUSG00000029192 AA Change: Y583C
Domain | Start | End | E-Value | Type |
low complexity region
|
159 |
174 |
N/A |
INTRINSIC |
Blast:TBC
|
316 |
375 |
1e-8 |
BLAST |
TBC
|
399 |
635 |
1.49e-54 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173532
|
SMART Domains |
Protein: ENSMUSP00000133477 Gene: ENSMUSG00000029192
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
16 |
N/A |
INTRINSIC |
Pfam:RabGAP-TBC
|
59 |
129 |
6.8e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173757
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Embryos homozygous for an ENU-induced mutation appear arrested at an egg cylinder-like state and show complete embryonic lethality between implantation and placentation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
A |
10: 79,841,986 (GRCm39) |
S1040T |
probably benign |
Het |
Adam25 |
T |
C |
8: 41,208,134 (GRCm39) |
Y467H |
probably benign |
Het |
Ank1 |
A |
G |
8: 23,605,449 (GRCm39) |
I1061V |
probably benign |
Het |
Anxa10 |
T |
C |
8: 62,529,348 (GRCm39) |
E123G |
probably damaging |
Het |
Arhgap35 |
G |
A |
7: 16,297,128 (GRCm39) |
L646F |
probably damaging |
Het |
Atp8b5 |
A |
G |
4: 43,320,590 (GRCm39) |
|
probably null |
Het |
Brap |
A |
G |
5: 121,816,910 (GRCm39) |
|
probably benign |
Het |
Carmil3 |
A |
G |
14: 55,730,993 (GRCm39) |
T87A |
probably damaging |
Het |
Ccdc172 |
A |
G |
19: 58,541,309 (GRCm39) |
D256G |
possibly damaging |
Het |
Cep350 |
C |
T |
1: 155,787,714 (GRCm39) |
A1375T |
probably benign |
Het |
Chrdl2 |
A |
T |
7: 99,671,263 (GRCm39) |
Q127L |
probably benign |
Het |
Cyp2c29 |
T |
C |
19: 39,279,341 (GRCm39) |
|
probably benign |
Het |
Ddi1 |
C |
A |
9: 6,266,226 (GRCm39) |
V48F |
probably benign |
Het |
Ddrgk1 |
C |
T |
2: 130,497,166 (GRCm39) |
|
probably benign |
Het |
Fastkd1 |
C |
T |
2: 69,524,932 (GRCm39) |
V626I |
possibly damaging |
Het |
Fgd5 |
A |
G |
6: 92,001,543 (GRCm39) |
T755A |
probably benign |
Het |
Fpgt |
G |
T |
3: 154,793,655 (GRCm39) |
T124K |
probably damaging |
Het |
Gnl2 |
G |
A |
4: 124,941,405 (GRCm39) |
|
probably null |
Het |
Got1 |
A |
T |
19: 43,504,284 (GRCm39) |
S46T |
probably benign |
Het |
Hbb-bt |
G |
T |
7: 103,463,070 (GRCm39) |
H3N |
probably benign |
Het |
Ikbke |
C |
T |
1: 131,199,838 (GRCm39) |
|
probably benign |
Het |
Il2rb |
A |
G |
15: 78,365,897 (GRCm39) |
S467P |
probably benign |
Het |
Kcnma1 |
A |
G |
14: 23,580,367 (GRCm39) |
|
probably benign |
Het |
Ltbp2 |
T |
C |
12: 84,876,973 (GRCm39) |
N391D |
probably damaging |
Het |
Npr3 |
A |
T |
15: 11,858,804 (GRCm39) |
I360N |
probably damaging |
Het |
Nradd |
G |
A |
9: 110,451,237 (GRCm39) |
P44S |
possibly damaging |
Het |
Or5m10 |
G |
T |
2: 85,717,711 (GRCm39) |
C189F |
probably damaging |
Het |
Or7h8 |
G |
A |
9: 20,123,755 (GRCm39) |
V37I |
possibly damaging |
Het |
Pcdh17 |
A |
G |
14: 84,770,537 (GRCm39) |
E1005G |
possibly damaging |
Het |
Pcdhb11 |
A |
G |
18: 37,555,344 (GRCm39) |
T225A |
possibly damaging |
Het |
Pja2 |
T |
C |
17: 64,604,821 (GRCm39) |
D454G |
probably benign |
Het |
Pon3 |
T |
C |
6: 5,221,670 (GRCm39) |
Y320C |
probably damaging |
Het |
Prl2a1 |
A |
G |
13: 27,990,261 (GRCm39) |
D70G |
probably damaging |
Het |
Proc |
T |
A |
18: 32,260,472 (GRCm39) |
T218S |
probably benign |
Het |
Proz |
G |
T |
8: 13,116,913 (GRCm39) |
G155V |
probably damaging |
Het |
Rab11fip3 |
T |
C |
17: 26,286,977 (GRCm39) |
E392G |
possibly damaging |
Het |
Rab3gap2 |
C |
T |
1: 184,999,220 (GRCm39) |
R976* |
probably null |
Het |
Shisa2 |
G |
A |
14: 59,867,435 (GRCm39) |
C229Y |
probably damaging |
Het |
Slc2a5 |
T |
C |
4: 150,226,675 (GRCm39) |
V379A |
probably damaging |
Het |
Slc31a2 |
A |
T |
4: 62,214,197 (GRCm39) |
K47N |
probably damaging |
Het |
Sult2a6 |
G |
A |
7: 13,987,411 (GRCm39) |
T88I |
probably benign |
Het |
Thumpd3 |
C |
A |
6: 113,036,927 (GRCm39) |
N275K |
possibly damaging |
Het |
Tnks2 |
T |
C |
19: 36,849,990 (GRCm39) |
|
probably null |
Het |
Tube1 |
G |
A |
10: 39,011,041 (GRCm39) |
|
probably benign |
Het |
Umodl1 |
T |
A |
17: 31,192,742 (GRCm39) |
Y290N |
probably damaging |
Het |
Usp34 |
G |
A |
11: 23,402,661 (GRCm39) |
E726K |
probably damaging |
Het |
Vmn2r84 |
T |
A |
10: 130,229,935 (GRCm39) |
D59V |
probably benign |
Het |
Vps11 |
T |
A |
9: 44,267,516 (GRCm39) |
|
probably benign |
Het |
Wdr19 |
T |
C |
5: 65,385,912 (GRCm39) |
Y631H |
probably benign |
Het |
Wdr62 |
G |
A |
7: 29,957,526 (GRCm39) |
H88Y |
probably damaging |
Het |
Wdr93 |
A |
T |
7: 79,402,253 (GRCm39) |
N184I |
probably damaging |
Het |
Wnk4 |
T |
A |
11: 101,156,240 (GRCm39) |
F473Y |
probably damaging |
Het |
Zbtb16 |
A |
G |
9: 48,568,483 (GRCm39) |
W661R |
probably damaging |
Het |
|
Other mutations in Tbc1d14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01310:Tbc1d14
|
APN |
5 |
36,700,544 (GRCm39) |
nonsense |
probably null |
|
IGL01759:Tbc1d14
|
APN |
5 |
36,728,913 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01939:Tbc1d14
|
APN |
5 |
36,665,781 (GRCm39) |
unclassified |
probably benign |
|
IGL02064:Tbc1d14
|
APN |
5 |
36,665,019 (GRCm39) |
nonsense |
probably null |
|
IGL02250:Tbc1d14
|
APN |
5 |
36,728,863 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02370:Tbc1d14
|
APN |
5 |
36,652,562 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL03088:Tbc1d14
|
APN |
5 |
36,682,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R0408:Tbc1d14
|
UTSW |
5 |
36,728,643 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1863:Tbc1d14
|
UTSW |
5 |
36,665,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R2007:Tbc1d14
|
UTSW |
5 |
36,728,718 (GRCm39) |
missense |
possibly damaging |
0.78 |
R2064:Tbc1d14
|
UTSW |
5 |
36,680,274 (GRCm39) |
nonsense |
probably null |
|
R2266:Tbc1d14
|
UTSW |
5 |
36,700,561 (GRCm39) |
missense |
possibly damaging |
0.52 |
R2267:Tbc1d14
|
UTSW |
5 |
36,700,561 (GRCm39) |
missense |
possibly damaging |
0.52 |
R2268:Tbc1d14
|
UTSW |
5 |
36,700,561 (GRCm39) |
missense |
possibly damaging |
0.52 |
R2269:Tbc1d14
|
UTSW |
5 |
36,700,561 (GRCm39) |
missense |
possibly damaging |
0.52 |
R3955:Tbc1d14
|
UTSW |
5 |
36,700,559 (GRCm39) |
nonsense |
probably null |
|
R4222:Tbc1d14
|
UTSW |
5 |
36,650,452 (GRCm39) |
missense |
probably benign |
|
R4618:Tbc1d14
|
UTSW |
5 |
36,687,725 (GRCm39) |
intron |
probably benign |
|
R4780:Tbc1d14
|
UTSW |
5 |
36,728,600 (GRCm39) |
intron |
probably benign |
|
R4817:Tbc1d14
|
UTSW |
5 |
36,729,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R5315:Tbc1d14
|
UTSW |
5 |
36,664,932 (GRCm39) |
missense |
probably damaging |
0.99 |
R5521:Tbc1d14
|
UTSW |
5 |
36,677,896 (GRCm39) |
missense |
probably damaging |
0.99 |
R5590:Tbc1d14
|
UTSW |
5 |
36,682,389 (GRCm39) |
missense |
probably damaging |
1.00 |
R6190:Tbc1d14
|
UTSW |
5 |
36,729,228 (GRCm39) |
missense |
possibly damaging |
0.58 |
R6502:Tbc1d14
|
UTSW |
5 |
36,677,825 (GRCm39) |
missense |
possibly damaging |
0.62 |
R6748:Tbc1d14
|
UTSW |
5 |
36,652,598 (GRCm39) |
missense |
probably damaging |
0.96 |
R7089:Tbc1d14
|
UTSW |
5 |
36,669,884 (GRCm39) |
missense |
probably benign |
0.03 |
R7667:Tbc1d14
|
UTSW |
5 |
36,652,382 (GRCm39) |
missense |
probably damaging |
1.00 |
R8020:Tbc1d14
|
UTSW |
5 |
36,729,187 (GRCm39) |
missense |
probably benign |
0.29 |
R8389:Tbc1d14
|
UTSW |
5 |
36,687,792 (GRCm39) |
intron |
probably benign |
|
R8868:Tbc1d14
|
UTSW |
5 |
36,728,888 (GRCm39) |
missense |
probably damaging |
1.00 |
R8917:Tbc1d14
|
UTSW |
5 |
36,676,682 (GRCm39) |
missense |
probably damaging |
0.97 |
R9280:Tbc1d14
|
UTSW |
5 |
36,680,268 (GRCm39) |
intron |
probably benign |
|
R9377:Tbc1d14
|
UTSW |
5 |
36,662,472 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2014-05-07 |