Incidental Mutation 'IGL01939:Tbc1d14'
| ID |
180822 |
| 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 # |
IGL01939
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
36647948-36743611 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 36665781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031094]
[ENSMUST00000124036]
[ENSMUST00000126077]
[ENSMUST00000130417]
[ENSMUST00000136189]
[ENSMUST00000140607]
[ENSMUST00000146430]
[ENSMUST00000171385]
[ENSMUST00000150813]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031094
|
| SMART Domains |
Protein: ENSMUSP00000031094
Gene: ENSMUSG00000029192
| 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: ENSMUST00000124036
|
| SMART Domains |
Protein: ENSMUSP00000117414
Gene: ENSMUSG00000029192
| 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: ENSMUST00000126077
|
| SMART Domains |
Protein: ENSMUSP00000114508
Gene: ENSMUSG00000029192
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TBC
|
35 |
94 |
5e-9 |
BLAST |
|
TBC
|
118 |
354 |
1.49e-54 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130417
|
| SMART Domains |
Protein: ENSMUSP00000116519
Gene: ENSMUSG00000029192
| 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 benign
Transcript: ENSMUST00000140607
|
| SMART Domains |
Protein: ENSMUSP00000121516
Gene: ENSMUSG00000029192
| 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: ENSMUST00000146430
|
| SMART Domains |
Protein: ENSMUSP00000121816
Gene: ENSMUSG00000029192
| 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: ENSMUST00000171385
|
| SMART Domains |
Protein: ENSMUSP00000131876
Gene: ENSMUSG00000029192
| 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: ENSMUST00000150813
|
| SMART Domains |
Protein: ENSMUSP00000115926
Gene: ENSMUSG00000029192
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TBC
|
35 |
94 |
3e-9 |
BLAST |
|
TBC
|
118 |
305 |
1.08e-10 |
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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
G |
T |
4: 129,885,925 (GRCm39) |
D22Y |
probably damaging |
Het |
| Ak7 |
T |
C |
12: 105,701,183 (GRCm39) |
V242A |
probably benign |
Het |
| Cacna1b |
T |
C |
2: 24,551,769 (GRCm39) |
N1127S |
probably damaging |
Het |
| Cacnb2 |
A |
T |
2: 14,976,380 (GRCm39) |
H267L |
probably benign |
Het |
| Ces1b |
C |
T |
8: 93,806,059 (GRCm39) |
G61R |
probably damaging |
Het |
| Cgnl1 |
T |
A |
9: 71,632,286 (GRCm39) |
D355V |
probably damaging |
Het |
| Col24a1 |
T |
C |
3: 145,021,005 (GRCm39) |
S459P |
probably damaging |
Het |
| Crygd |
T |
C |
1: 65,101,185 (GRCm39) |
T137A |
probably benign |
Het |
| Dctn4 |
T |
A |
18: 60,677,202 (GRCm39) |
M174K |
probably benign |
Het |
| Evi5 |
A |
G |
5: 107,964,790 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
T |
G |
11: 55,174,806 (GRCm39) |
D1969A |
probably benign |
Het |
| Fcrl5 |
A |
T |
3: 87,353,606 (GRCm39) |
E317V |
probably damaging |
Het |
| Foxf2 |
G |
T |
13: 31,810,697 (GRCm39) |
S212I |
probably damaging |
Het |
| Gm21759 |
T |
A |
5: 8,230,685 (GRCm39) |
|
probably benign |
Het |
| Gm5414 |
A |
G |
15: 101,534,105 (GRCm39) |
|
probably benign |
Het |
| Gm7275 |
T |
C |
16: 47,893,946 (GRCm39) |
|
noncoding transcript |
Het |
| Hspa9 |
T |
C |
18: 35,071,761 (GRCm39) |
E613G |
possibly damaging |
Het |
| Il1rl1 |
A |
G |
1: 40,501,168 (GRCm39) |
I515V |
possibly damaging |
Het |
| Ins1 |
G |
T |
19: 52,253,173 (GRCm39) |
A38S |
probably damaging |
Het |
| Klhl31 |
A |
G |
9: 77,562,488 (GRCm39) |
N418D |
probably benign |
Het |
| Magi3 |
T |
C |
3: 103,961,778 (GRCm39) |
K417E |
probably damaging |
Het |
| Msh4 |
A |
G |
3: 153,563,226 (GRCm39) |
Y823H |
probably damaging |
Het |
| Myo6 |
T |
A |
9: 80,168,100 (GRCm39) |
D421E |
probably damaging |
Het |
| Myom3 |
T |
C |
4: 135,492,900 (GRCm39) |
S150P |
possibly damaging |
Het |
| Nectin1 |
C |
T |
9: 43,703,871 (GRCm39) |
|
probably benign |
Het |
| Nkx1-2 |
A |
T |
7: 132,201,203 (GRCm39) |
I18N |
probably damaging |
Het |
| Or4s2b |
A |
G |
2: 88,509,077 (GRCm39) |
T286A |
probably damaging |
Het |
| Or5b113 |
A |
T |
19: 13,342,807 (GRCm39) |
I272F |
probably benign |
Het |
| Or8g33 |
A |
C |
9: 39,337,634 (GRCm39) |
H244Q |
probably damaging |
Het |
| Or9g4 |
T |
C |
2: 85,505,285 (GRCm39) |
D70G |
probably damaging |
Het |
| Pde8b |
T |
C |
13: 95,232,232 (GRCm39) |
R237G |
probably damaging |
Het |
| Pp2d1 |
G |
A |
17: 53,822,167 (GRCm39) |
L300F |
probably damaging |
Het |
| Ptpn21 |
A |
T |
12: 98,655,420 (GRCm39) |
Y516N |
probably damaging |
Het |
| Ptprm |
T |
A |
17: 67,370,158 (GRCm39) |
|
probably benign |
Het |
| Rabggtb |
A |
G |
3: 153,617,650 (GRCm39) |
V16A |
probably damaging |
Het |
| Rangap1 |
A |
T |
15: 81,604,864 (GRCm39) |
C82S |
probably damaging |
Het |
| Rasal2 |
T |
C |
1: 157,003,480 (GRCm39) |
E393G |
probably damaging |
Het |
| Rasgrf1 |
A |
T |
9: 89,856,889 (GRCm39) |
E449V |
probably damaging |
Het |
| Rrp12 |
A |
T |
19: 41,859,334 (GRCm39) |
H1143Q |
probably damaging |
Het |
| Scap |
T |
C |
9: 110,208,549 (GRCm39) |
I530T |
probably benign |
Het |
| Sel1l |
T |
A |
12: 91,783,021 (GRCm39) |
Q482L |
probably damaging |
Het |
| Serpinb9b |
T |
C |
13: 33,223,648 (GRCm39) |
M280T |
probably damaging |
Het |
| Slc39a10 |
T |
A |
1: 46,871,895 (GRCm39) |
H348L |
probably benign |
Het |
| Slc7a2 |
T |
C |
8: 41,367,120 (GRCm39) |
L542P |
possibly damaging |
Het |
| Tas1r2 |
A |
T |
4: 139,396,488 (GRCm39) |
Q609L |
probably damaging |
Het |
| Tfb2m |
A |
G |
1: 179,365,262 (GRCm39) |
|
probably null |
Het |
| Tpo |
T |
C |
12: 30,134,646 (GRCm39) |
T771A |
possibly damaging |
Het |
| Tpr |
G |
A |
1: 150,289,496 (GRCm39) |
R609H |
possibly damaging |
Het |
| Usp34 |
T |
A |
11: 23,295,141 (GRCm39) |
|
probably benign |
Het |
| Vmn1r193 |
G |
T |
13: 22,403,893 (GRCm39) |
S33* |
probably null |
Het |
| Vmn2r104 |
A |
C |
17: 20,250,187 (GRCm39) |
S695A |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r24 |
A |
G |
6: 123,764,404 (GRCm39) |
D427G |
probably benign |
Het |
| Zfp362 |
A |
G |
4: 128,680,846 (GRCm39) |
S160P |
probably benign |
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 |
|
IGL01977:Tbc1d14
|
APN |
5 |
36,662,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
Incidental Mutation