Incidental Mutation 'IGL02250:Tbc1d14'
ID |
286347 |
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 # |
IGL02250
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
36647948-36743611 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 36728863 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 168
(S168P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121816
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031094]
[ENSMUST00000124036]
[ENSMUST00000130417]
[ENSMUST00000136189]
[ENSMUST00000136490]
[ENSMUST00000139182]
[ENSMUST00000140179]
[ENSMUST00000146430]
[ENSMUST00000140607]
[ENSMUST00000147603]
[ENSMUST00000144997]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031094
AA Change: S168P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031094 Gene: ENSMUSG00000029192 AA Change: S168P
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: S188P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000117414 Gene: ENSMUSG00000029192 AA Change: S188P
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: ENSMUST00000130417
AA Change: S188P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000116519 Gene: ENSMUSG00000029192 AA Change: S188P
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: S168P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115467 Gene: ENSMUSG00000029192 AA Change: S168P
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 benign
Transcript: ENSMUST00000136490
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139182
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000140179
AA Change: S168P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000116735 Gene: ENSMUSG00000029192 AA Change: S168P
Domain | Start | End | E-Value | Type |
low complexity region
|
174 |
189 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000146430
AA Change: S168P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121816 Gene: ENSMUSG00000029192 AA Change: S168P
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: ENSMUST00000140607
AA Change: S168P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121516 Gene: ENSMUSG00000029192 AA Change: S168P
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: ENSMUST00000150733
|
Predicted Effect |
unknown
Transcript: ENSMUST00000173532
AA Change: S9P
|
SMART Domains |
Protein: ENSMUSP00000133477 Gene: ENSMUSG00000029192 AA Change: S9P
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 |
noncoding transcript
Transcript: ENSMUST00000156658
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147603
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144997
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp7 |
T |
A |
7: 28,329,135 (GRCm39) |
|
probably benign |
Het |
Antxr2 |
A |
C |
5: 98,125,454 (GRCm39) |
|
probably null |
Het |
Areg |
T |
A |
5: 91,288,967 (GRCm39) |
I91K |
possibly damaging |
Het |
Arf1 |
G |
A |
11: 59,103,993 (GRCm39) |
R79C |
probably benign |
Het |
Bbs2 |
A |
T |
8: 94,819,054 (GRCm39) |
I105N |
probably benign |
Het |
Ccdc158 |
A |
T |
5: 92,756,337 (GRCm39) |
I1090N |
probably damaging |
Het |
Ccdc90b |
T |
A |
7: 92,223,823 (GRCm39) |
|
probably benign |
Het |
Cep57 |
A |
T |
9: 13,721,939 (GRCm39) |
F221I |
probably damaging |
Het |
Ckap5 |
C |
T |
2: 91,379,246 (GRCm39) |
A62V |
probably damaging |
Het |
Cntn5 |
G |
A |
9: 10,145,336 (GRCm39) |
R125C |
probably damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cxxc1 |
T |
A |
18: 74,352,240 (GRCm39) |
D321E |
probably benign |
Het |
Ddr1 |
G |
A |
17: 35,994,372 (GRCm39) |
A801V |
probably damaging |
Het |
Dnm1l |
A |
G |
16: 16,139,550 (GRCm39) |
|
probably benign |
Het |
Eif2d |
T |
A |
1: 131,088,166 (GRCm39) |
S184T |
probably benign |
Het |
Emcn |
T |
A |
3: 137,124,747 (GRCm39) |
|
probably benign |
Het |
Fry |
A |
T |
5: 150,326,899 (GRCm39) |
|
probably benign |
Het |
Gas2 |
T |
A |
7: 51,537,786 (GRCm39) |
M37K |
probably damaging |
Het |
Habp2 |
A |
G |
19: 56,297,361 (GRCm39) |
S100G |
probably benign |
Het |
Kcnj5 |
A |
G |
9: 32,229,052 (GRCm39) |
C49R |
probably damaging |
Het |
Lhx2 |
T |
A |
2: 38,244,845 (GRCm39) |
D236E |
probably benign |
Het |
Megf8 |
T |
A |
7: 25,042,000 (GRCm39) |
S1273T |
probably benign |
Het |
Mrps2 |
T |
C |
2: 28,359,557 (GRCm39) |
I138T |
possibly damaging |
Het |
Mta1 |
T |
C |
12: 113,090,418 (GRCm39) |
S175P |
possibly damaging |
Het |
Npat |
T |
A |
9: 53,460,251 (GRCm39) |
Y66* |
probably null |
Het |
Nup160 |
A |
G |
2: 90,539,214 (GRCm39) |
R798G |
probably damaging |
Het |
Or52n2c |
T |
C |
7: 104,574,222 (GRCm39) |
I250V |
probably damaging |
Het |
Or8b54 |
C |
A |
9: 38,686,850 (GRCm39) |
Q100K |
probably damaging |
Het |
Plxnc1 |
C |
T |
10: 94,706,893 (GRCm39) |
G548E |
probably benign |
Het |
Radil |
A |
G |
5: 142,529,529 (GRCm39) |
S56P |
probably damaging |
Het |
Rpgrip1l |
A |
T |
8: 91,959,489 (GRCm39) |
M1137K |
probably benign |
Het |
Serpina1c |
T |
G |
12: 103,863,487 (GRCm39) |
M238L |
probably benign |
Het |
Tmem209 |
A |
G |
6: 30,487,387 (GRCm39) |
S498P |
probably damaging |
Het |
Utrn |
A |
G |
10: 12,312,135 (GRCm39) |
Y607H |
probably damaging |
Het |
Vipr1 |
A |
G |
9: 121,494,255 (GRCm39) |
I279V |
probably benign |
Het |
Vmn2r67 |
T |
G |
7: 84,805,008 (GRCm39) |
N35H |
probably benign |
Het |
Xirp2 |
C |
T |
2: 67,344,356 (GRCm39) |
T2199I |
probably benign |
Het |
Zfp423 |
A |
G |
8: 88,509,883 (GRCm39) |
S86P |
probably damaging |
Het |
Zfp831 |
A |
G |
2: 174,489,994 (GRCm39) |
K1254E |
possibly damaging |
Het |
Zfp873 |
T |
A |
10: 81,894,252 (GRCm39) |
M1K |
probably null |
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 |
IGL02064:Tbc1d14
|
APN |
5 |
36,665,019 (GRCm39) |
nonsense |
probably null |
|
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 |
2015-04-16 |