Incidental Mutation 'R5315:Tbc1d14'
| ID |
405785 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d14
|
| Ensembl Gene |
ENSMUSG00000029192 |
| Gene Name |
TBC1 domain family, member 14 |
| Synonyms |
2810413P16Rik, D5Ertd110e |
| MMRRC Submission |
042898-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5315 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
36647948-36743611 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36664932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 567
(D567G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116519
(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 benign
Transcript: ENSMUST00000031094
AA Change: D547G
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000031094
Gene: ENSMUSG00000029192
AA Change: D547G
| 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: D567G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117414
Gene: ENSMUSG00000029192
AA Change: D567G
| 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 |
possibly damaging
Transcript: ENSMUST00000126077
AA Change: D266G
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114508
Gene: ENSMUSG00000029192
AA Change: D266G
| 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: D567G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000116519
Gene: ENSMUSG00000029192
AA Change: D567G
| 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
AA Change: D547G
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000121516
Gene: ENSMUSG00000029192
AA Change: D547G
| 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
AA Change: D547G
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000121816
Gene: ENSMUSG00000029192
AA Change: D547G
| 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 |
possibly damaging
Transcript: ENSMUST00000150813
AA Change: D266G
PolyPhen 2
Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000115926
Gene: ENSMUSG00000029192
AA Change: D266G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TBC
|
35 |
94 |
3e-9 |
BLAST |
|
TBC
|
118 |
305 |
1.08e-10 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171385
AA Change: D266G
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000131876
Gene: ENSMUSG00000029192
AA Change: D266G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TBC
|
35 |
94 |
5e-9 |
BLAST |
|
TBC
|
118 |
354 |
1.49e-54 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000173757
AA Change: D25G
|
| 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 |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 98.1%
- 20x: 97.1%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace3 |
T |
C |
11: 105,885,747 (GRCm39) |
V51A |
probably benign |
Het |
| Ass1 |
A |
T |
2: 31,382,341 (GRCm39) |
I171F |
probably benign |
Het |
| AU041133 |
T |
G |
10: 81,987,506 (GRCm39) |
Y386* |
probably null |
Het |
| Bex6 |
A |
G |
16: 32,005,311 (GRCm39) |
N40D |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,877,775 (GRCm39) |
Y1044C |
probably damaging |
Het |
| Cflar |
C |
G |
1: 58,792,961 (GRCm39) |
D442E |
probably benign |
Het |
| Dag1 |
A |
G |
9: 108,086,316 (GRCm39) |
V275A |
probably damaging |
Het |
| Dnah17 |
G |
A |
11: 118,018,109 (GRCm39) |
R129W |
possibly damaging |
Het |
| Epha4 |
C |
T |
1: 77,365,109 (GRCm39) |
|
probably null |
Het |
| Eri2 |
T |
C |
7: 119,385,241 (GRCm39) |
D420G |
probably benign |
Het |
| Gm42669 |
A |
T |
5: 107,656,103 (GRCm39) |
I1301F |
probably damaging |
Het |
| Golga2 |
A |
G |
2: 32,193,773 (GRCm39) |
E463G |
probably damaging |
Het |
| Grsf1 |
G |
A |
5: 88,821,634 (GRCm39) |
|
probably benign |
Het |
| Igkv6-15 |
A |
C |
6: 70,383,957 (GRCm39) |
V7G |
possibly damaging |
Het |
| Katnal2 |
A |
T |
18: 77,099,705 (GRCm39) |
V143D |
probably benign |
Het |
| Mepce |
A |
C |
5: 137,780,955 (GRCm39) |
I617S |
probably damaging |
Het |
| Mms19 |
C |
T |
19: 41,943,201 (GRCm39) |
R320Q |
possibly damaging |
Het |
| Nt5c2 |
T |
C |
19: 46,880,682 (GRCm39) |
Y353C |
probably damaging |
Het |
| Or5p76 |
A |
G |
7: 108,123,097 (GRCm39) |
L20S |
probably damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Pitpnm2 |
A |
T |
5: 124,259,996 (GRCm39) |
D1111E |
probably benign |
Het |
| Plin5 |
C |
A |
17: 56,421,066 (GRCm39) |
V200L |
probably benign |
Het |
| Rab3a |
T |
C |
8: 71,208,569 (GRCm39) |
F23L |
probably damaging |
Het |
| Rrp8 |
T |
C |
7: 105,383,207 (GRCm39) |
K353R |
probably benign |
Het |
| S100a7l2 |
G |
A |
3: 90,997,637 (GRCm39) |
T26M |
possibly damaging |
Het |
| Senp7 |
A |
G |
16: 56,000,889 (GRCm39) |
D887G |
probably benign |
Het |
| Sftpb |
G |
T |
6: 72,283,876 (GRCm39) |
A158S |
probably benign |
Het |
| Sh2d2a |
A |
C |
3: 87,754,976 (GRCm39) |
T23P |
probably damaging |
Het |
| Siglecf |
T |
C |
7: 43,004,532 (GRCm39) |
L287P |
probably benign |
Het |
| Slc4a1 |
T |
A |
11: 102,249,080 (GRCm39) |
I233F |
possibly damaging |
Het |
| Spef2 |
T |
C |
15: 9,596,777 (GRCm39) |
Q1424R |
probably damaging |
Het |
| Tmem106b |
T |
G |
6: 13,081,559 (GRCm39) |
N155K |
probably damaging |
Het |
| Vmn2r2 |
C |
A |
3: 64,024,377 (GRCm39) |
V735F |
probably benign |
Het |
| Zfp850 |
T |
C |
7: 27,689,743 (GRCm39) |
K155R |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGCACAGAAGTCACCGTC -3'
(R):5'- AAAGCTGCTTTGACCTTTTGGC -3'
Sequencing Primer
(F):5'- CTCCAGGAGAATGCATTAATCTGTGC -3'
(R):5'- GACCTTTTGGCCACATTAGTTAAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation