Incidental Mutation 'IGL02064:Tbc1d14'
| ID |
185571 |
| 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 # |
IGL02064
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
36647948-36743611 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 36665019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 237
(L237*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131876
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031094]
[ENSMUST00000124036]
[ENSMUST00000126077]
[ENSMUST00000130417]
[ENSMUST00000136189]
[ENSMUST00000140607]
[ENSMUST00000146430]
[ENSMUST00000150813]
[ENSMUST00000171385]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031094
AA Change: L518*
|
| SMART Domains |
Protein: ENSMUSP00000031094
Gene: ENSMUSG00000029192
AA Change: L518*
| 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 null
Transcript: ENSMUST00000124036
AA Change: L538*
|
| SMART Domains |
Protein: ENSMUSP00000117414
Gene: ENSMUSG00000029192
AA Change: L538*
| 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 null
Transcript: ENSMUST00000126077
AA Change: L237*
|
| SMART Domains |
Protein: ENSMUSP00000114508
Gene: ENSMUSG00000029192
AA Change: L237*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TBC
|
35 |
94 |
5e-9 |
BLAST |
|
TBC
|
118 |
354 |
1.49e-54 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000130417
AA Change: L538*
|
| SMART Domains |
Protein: ENSMUSP00000116519
Gene: ENSMUSG00000029192
AA Change: L538*
| 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 benign
Transcript: ENSMUST00000136189
|
| SMART Domains |
Protein: ENSMUSP00000115467
Gene: ENSMUSG00000029192
| 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 null
Transcript: ENSMUST00000140607
AA Change: L518*
|
| SMART Domains |
Protein: ENSMUSP00000121516
Gene: ENSMUSG00000029192
AA Change: L518*
| 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 null
Transcript: ENSMUST00000146430
AA Change: L518*
|
| SMART Domains |
Protein: ENSMUSP00000121816
Gene: ENSMUSG00000029192
AA Change: L518*
| 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 null
Transcript: ENSMUST00000150813
AA Change: L237*
|
| SMART Domains |
Protein: ENSMUSP00000115926
Gene: ENSMUSG00000029192
AA Change: L237*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TBC
|
35 |
94 |
3e-9 |
BLAST |
|
TBC
|
118 |
305 |
1.08e-10 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000171385
AA Change: L237*
|
| SMART Domains |
Protein: ENSMUSP00000131876
Gene: ENSMUSG00000029192
AA Change: L237*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TBC
|
35 |
94 |
5e-9 |
BLAST |
|
TBC
|
118 |
354 |
1.49e-54 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149157
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173757
|
| 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 |
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
T |
C |
3: 59,784,463 (GRCm39) |
L312P |
probably damaging |
Het |
| Acap2 |
A |
C |
16: 30,946,146 (GRCm39) |
W284G |
probably damaging |
Het |
| Acsf3 |
T |
C |
8: 123,506,986 (GRCm39) |
L93P |
possibly damaging |
Het |
| Agbl2 |
G |
T |
2: 90,614,368 (GRCm39) |
|
probably benign |
Het |
| Arap3 |
C |
T |
18: 38,124,754 (GRCm39) |
G242D |
probably damaging |
Het |
| Asxl3 |
G |
A |
18: 22,657,401 (GRCm39) |
V1804I |
possibly damaging |
Het |
| Bnc1 |
C |
A |
7: 81,623,251 (GRCm39) |
V659L |
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Car9 |
A |
G |
4: 43,507,363 (GRCm39) |
E103G |
probably benign |
Het |
| Chrm4 |
A |
G |
2: 91,758,176 (GRCm39) |
T195A |
probably damaging |
Het |
| Cldn10 |
T |
C |
14: 119,092,424 (GRCm39) |
I8T |
probably damaging |
Het |
| Col12a1 |
G |
A |
9: 79,599,654 (GRCm39) |
S833F |
probably benign |
Het |
| Cryba2 |
T |
A |
1: 74,929,720 (GRCm39) |
D139V |
possibly damaging |
Het |
| Emp1 |
T |
A |
6: 135,354,210 (GRCm39) |
M1K |
probably null |
Het |
| Entrep3 |
C |
T |
3: 89,095,903 (GRCm39) |
R545* |
probably null |
Het |
| Exosc4 |
C |
A |
15: 76,213,836 (GRCm39) |
A220E |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,282,112 (GRCm39) |
|
probably benign |
Het |
| Grid2 |
C |
T |
6: 64,040,919 (GRCm39) |
T287I |
probably benign |
Het |
| Grifin |
C |
T |
5: 140,550,494 (GRCm39) |
A7T |
probably damaging |
Het |
| Gzmg |
T |
C |
14: 56,394,798 (GRCm39) |
K157E |
probably benign |
Het |
| Kcnq2 |
A |
T |
2: 180,750,819 (GRCm39) |
I340N |
probably damaging |
Het |
| Klrb1 |
T |
A |
6: 128,687,600 (GRCm39) |
H98L |
probably benign |
Het |
| Krt90 |
T |
C |
15: 101,471,088 (GRCm39) |
H58R |
possibly damaging |
Het |
| Krtap5-2 |
C |
A |
7: 141,729,468 (GRCm39) |
G71C |
unknown |
Het |
| Krtap7-1 |
A |
T |
16: 89,305,011 (GRCm39) |
M47K |
probably benign |
Het |
| Lmntd1 |
T |
A |
6: 145,373,002 (GRCm39) |
|
probably null |
Het |
| Ly6g2 |
A |
G |
15: 75,093,505 (GRCm39) |
|
probably benign |
Het |
| Musk |
A |
G |
4: 58,286,128 (GRCm39) |
N6S |
possibly damaging |
Het |
| Or2aj4 |
A |
G |
16: 19,385,298 (GRCm39) |
C112R |
probably damaging |
Het |
| Or51a39 |
A |
G |
7: 102,362,808 (GRCm39) |
F271L |
probably damaging |
Het |
| Or56a42-ps1 |
A |
T |
7: 104,776,241 (GRCm39) |
F89Y |
possibly damaging |
Het |
| Or5p58 |
T |
G |
7: 107,694,454 (GRCm39) |
T108P |
probably benign |
Het |
| Or8c15 |
T |
A |
9: 38,120,874 (GRCm39) |
I122N |
probably damaging |
Het |
| Pcdh19 |
A |
G |
X: 132,586,719 (GRCm39) |
M432T |
probably benign |
Het |
| Prdm1 |
A |
G |
10: 44,317,338 (GRCm39) |
F495S |
probably damaging |
Het |
| Prkar2a |
T |
C |
9: 108,610,403 (GRCm39) |
Y211H |
possibly damaging |
Het |
| Ralgapa1 |
C |
A |
12: 55,754,862 (GRCm39) |
G1143V |
probably damaging |
Het |
| Rbbp7 |
A |
G |
X: 161,552,783 (GRCm39) |
|
probably null |
Het |
| Scel |
C |
A |
14: 103,770,762 (GRCm39) |
H65Q |
probably damaging |
Het |
| Sec24d |
T |
C |
3: 123,137,463 (GRCm39) |
|
probably benign |
Het |
| Sfswap |
C |
A |
5: 129,637,860 (GRCm39) |
T839N |
probably benign |
Het |
| Slc15a1 |
T |
C |
14: 121,699,911 (GRCm39) |
I636V |
possibly damaging |
Het |
| Slc15a1 |
G |
T |
14: 121,699,886 (GRCm39) |
P644H |
probably benign |
Het |
| Slc6a21 |
T |
A |
7: 44,935,883 (GRCm39) |
I38N |
possibly damaging |
Het |
| Sucla2 |
C |
T |
14: 73,816,913 (GRCm39) |
Q218* |
probably null |
Het |
| Trpm7 |
C |
T |
2: 126,639,863 (GRCm39) |
E1578K |
probably damaging |
Het |
| Ttc17 |
G |
A |
2: 94,161,012 (GRCm39) |
T896I |
probably damaging |
Het |
| Virma |
A |
G |
4: 11,513,163 (GRCm39) |
D339G |
possibly damaging |
Het |
| Vmn2r54 |
T |
A |
7: 12,349,533 (GRCm39) |
Y683F |
probably benign |
Het |
| Xrra1 |
T |
A |
7: 99,563,411 (GRCm39) |
L466Q |
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 |
|
|
IGL01977:Tbc1d14
|
APN |
5 |
36,662,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
Incidental Mutation