Incidental Mutation 'IGL01310:Tbc1d14'
| ID |
73657 |
| 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 # |
IGL01310
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
36647948-36743611 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 36700544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 275
(K275*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121816
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031094]
[ENSMUST00000124036]
[ENSMUST00000130417]
[ENSMUST00000136189]
[ENSMUST00000140179]
[ENSMUST00000140607]
[ENSMUST00000146430]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031094
AA Change: K275*
|
| SMART Domains |
Protein: ENSMUSP00000031094
Gene: ENSMUSG00000029192
AA Change: K275*
| 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: K295*
|
| SMART Domains |
Protein: ENSMUSP00000117414
Gene: ENSMUSG00000029192
AA Change: K295*
| 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: ENSMUST00000130417
AA Change: K295*
|
| SMART Domains |
Protein: ENSMUSP00000116519
Gene: ENSMUSG00000029192
AA Change: K295*
| 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: ENSMUST00000136189
AA Change: K275*
|
| SMART Domains |
Protein: ENSMUSP00000115467
Gene: ENSMUSG00000029192
AA Change: K275*
| 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: ENSMUST00000140179
|
| SMART Domains |
Protein: ENSMUSP00000116735
Gene: ENSMUSG00000029192
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
174 |
189 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000140607
AA Change: K275*
|
| SMART Domains |
Protein: ENSMUSP00000121516
Gene: ENSMUSG00000029192
AA Change: K275*
| 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: ENSMUST00000146252
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000146430
AA Change: K275*
|
| SMART Domains |
Protein: ENSMUSP00000121816
Gene: ENSMUSG00000029192
AA Change: K275*
| 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: ENSMUST00000156658
|
| 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 |
|---|
| 4930431F12Rik |
A |
T |
5: 45,125,156 (GRCm39) |
|
noncoding transcript |
Het |
| Abca12 |
A |
T |
1: 71,323,315 (GRCm39) |
I1589N |
probably benign |
Het |
| Abca8a |
T |
G |
11: 109,950,801 (GRCm39) |
D888A |
probably benign |
Het |
| Adam5 |
C |
T |
8: 25,232,150 (GRCm39) |
|
probably benign |
Het |
| Amer1 |
A |
T |
X: 94,470,716 (GRCm39) |
N467K |
probably benign |
Het |
| Atp6v0a2 |
A |
G |
5: 124,783,968 (GRCm39) |
D272G |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,575,794 (GRCm39) |
N751K |
probably damaging |
Het |
| Cfi |
T |
A |
3: 129,652,080 (GRCm39) |
N250K |
probably damaging |
Het |
| Cndp2 |
G |
T |
18: 84,689,002 (GRCm39) |
P260Q |
possibly damaging |
Het |
| Cnnm3 |
A |
G |
1: 36,551,956 (GRCm39) |
D322G |
probably benign |
Het |
| Crybg1 |
A |
T |
10: 43,851,054 (GRCm39) |
S1606T |
possibly damaging |
Het |
| Crybg1 |
A |
G |
10: 43,879,596 (GRCm39) |
S531P |
probably damaging |
Het |
| Espnl |
A |
T |
1: 91,268,333 (GRCm39) |
K320* |
probably null |
Het |
| Glt1d1 |
A |
G |
5: 127,709,384 (GRCm39) |
T13A |
possibly damaging |
Het |
| Gpam |
C |
T |
19: 55,066,764 (GRCm39) |
A584T |
possibly damaging |
Het |
| Gpr19 |
A |
G |
6: 134,846,705 (GRCm39) |
I289T |
probably damaging |
Het |
| Grm8 |
T |
C |
6: 27,363,800 (GRCm39) |
I572V |
probably damaging |
Het |
| Gtpbp4 |
A |
T |
13: 9,027,308 (GRCm39) |
N502K |
probably benign |
Het |
| Herpud2 |
T |
C |
9: 25,062,247 (GRCm39) |
M6V |
probably benign |
Het |
| Igdcc3 |
T |
C |
9: 65,085,724 (GRCm39) |
V263A |
probably damaging |
Het |
| Il33 |
G |
A |
19: 29,930,156 (GRCm39) |
A65T |
probably benign |
Het |
| Itga9 |
T |
A |
9: 118,598,227 (GRCm39) |
M1K |
probably null |
Het |
| Izumo3 |
T |
C |
4: 92,035,217 (GRCm39) |
|
probably benign |
Het |
| Kdr |
G |
A |
5: 76,110,261 (GRCm39) |
P909S |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,997,182 (GRCm39) |
E262K |
probably benign |
Het |
| Krt25 |
T |
A |
11: 99,208,996 (GRCm39) |
Q278L |
probably benign |
Het |
| Lgi2 |
G |
T |
5: 52,711,807 (GRCm39) |
P195Q |
probably benign |
Het |
| Lpcat3 |
T |
C |
6: 124,676,301 (GRCm39) |
F120S |
possibly damaging |
Het |
| Nalcn |
C |
T |
14: 123,554,661 (GRCm39) |
R910Q |
probably benign |
Het |
| Nrxn1 |
A |
G |
17: 90,366,902 (GRCm39) |
|
probably null |
Het |
| Nuf2 |
A |
T |
1: 169,326,431 (GRCm39) |
V440E |
probably benign |
Het |
| Or10ag60 |
T |
A |
2: 87,437,852 (GRCm39) |
I40N |
possibly damaging |
Het |
| Or4f14 |
C |
T |
2: 111,742,652 (GRCm39) |
V208M |
probably benign |
Het |
| Or51ah3 |
C |
T |
7: 103,210,008 (GRCm39) |
S108F |
probably benign |
Het |
| Or6c205 |
T |
C |
10: 129,086,865 (GRCm39) |
I154T |
possibly damaging |
Het |
| Pfpl |
A |
G |
19: 12,405,974 (GRCm39) |
D75G |
probably damaging |
Het |
| Pgm5 |
A |
G |
19: 24,812,130 (GRCm39) |
V134A |
possibly damaging |
Het |
| Prkch |
A |
G |
12: 73,805,787 (GRCm39) |
I521V |
possibly damaging |
Het |
| Rps6kc1 |
T |
A |
1: 190,515,822 (GRCm39) |
E968V |
probably benign |
Het |
| Slc25a30 |
T |
C |
14: 76,007,037 (GRCm39) |
Y153C |
probably damaging |
Het |
| Smtnl2 |
T |
A |
11: 72,292,171 (GRCm39) |
|
probably null |
Het |
| Spmip4 |
C |
A |
6: 50,551,175 (GRCm39) |
V425L |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,931,314 (GRCm39) |
T799A |
probably benign |
Het |
| Trdn |
A |
T |
10: 33,181,094 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,706,879 (GRCm39) |
|
probably benign |
Het |
| Uaca |
T |
C |
9: 60,779,507 (GRCm39) |
M1296T |
probably benign |
Het |
| Ubash3a |
A |
C |
17: 31,434,116 (GRCm39) |
I154L |
probably benign |
Het |
| Vmn2r4 |
T |
A |
3: 64,317,200 (GRCm39) |
|
probably null |
Het |
| Xpc |
T |
C |
6: 91,467,089 (GRCm39) |
K915E |
probably benign |
Het |
| Zfp318 |
T |
C |
17: 46,724,153 (GRCm39) |
I2052T |
possibly damaging |
Het |
|
| Other mutations in Tbc1d14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2013-10-07 |
Incidental Mutation