Incidental Mutation 'R2266:Tbc1d14'
| ID |
242020 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d14
|
| Ensembl Gene |
ENSMUSG00000029192 |
| Gene Name |
TBC1 domain family, member 14 |
| Synonyms |
2810413P16Rik, D5Ertd110e |
| MMRRC Submission |
040266-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2266 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
36647948-36743611 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36700561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 269
(L269P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115467
(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 benign
Transcript: ENSMUST00000031094
AA Change: L269P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000031094
Gene: ENSMUSG00000029192
AA Change: L269P
| 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
AA Change: L289P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000117414
Gene: ENSMUSG00000029192
AA Change: L289P
| 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: ENSMUST00000130417
AA Change: L289P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000116519
Gene: ENSMUSG00000029192
AA Change: L289P
| 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: ENSMUST00000136189
AA Change: L269P
PolyPhen 2
Score 0.523 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000115467
Gene: ENSMUSG00000029192
AA Change: L269P
| 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: ENSMUST00000140179
|
| SMART Domains |
Protein: ENSMUSP00000116735
Gene: ENSMUSG00000029192
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
174 |
189 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140607
AA Change: L269P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000121516
Gene: ENSMUSG00000029192
AA Change: L269P
| 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 |
noncoding transcript
Transcript: ENSMUST00000156658
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146430
AA Change: L269P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000121816
Gene: ENSMUSG00000029192
AA Change: L269P
| 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: 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 |
|
| Meta Mutation Damage Score |
0.0749 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
100% (68/68) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
T |
A |
3: 59,944,737 (GRCm39) |
D136E |
probably damaging |
Het |
| Agrn |
C |
T |
4: 156,263,675 (GRCm39) |
G173R |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,065,475 (GRCm39) |
F4115S |
possibly damaging |
Het |
| Bsn |
T |
A |
9: 107,992,323 (GRCm39) |
D1143V |
probably damaging |
Het |
| Cacna2d2 |
T |
C |
9: 107,390,479 (GRCm39) |
V317A |
probably damaging |
Het |
| Cdh1 |
G |
A |
8: 107,388,635 (GRCm39) |
V564I |
probably benign |
Het |
| Cep250 |
T |
C |
2: 155,818,090 (GRCm39) |
V814A |
probably benign |
Het |
| Ces2a |
A |
T |
8: 105,466,822 (GRCm39) |
I65F |
probably benign |
Het |
| Commd8 |
A |
G |
5: 72,322,765 (GRCm39) |
W51R |
probably damaging |
Het |
| Cyb561d1 |
A |
T |
3: 108,106,720 (GRCm39) |
H166Q |
probably damaging |
Het |
| Dcun1d4 |
T |
A |
5: 73,638,618 (GRCm39) |
|
probably benign |
Het |
| Dgkd |
A |
G |
1: 87,855,540 (GRCm39) |
|
probably benign |
Het |
| Dipk2b |
A |
G |
X: 18,289,926 (GRCm39) |
S179P |
possibly damaging |
Het |
| Dnajc28 |
T |
C |
16: 91,413,200 (GRCm39) |
N372S |
probably benign |
Het |
| Ecpas |
A |
T |
4: 58,830,332 (GRCm39) |
|
probably null |
Het |
| Eid1 |
A |
G |
2: 125,515,344 (GRCm39) |
D78G |
possibly damaging |
Het |
| Emid1 |
T |
A |
11: 5,094,331 (GRCm39) |
Q60L |
probably damaging |
Het |
| Fam135a |
A |
T |
1: 24,067,878 (GRCm39) |
V801E |
probably benign |
Het |
| Foxh1 |
A |
G |
15: 76,552,820 (GRCm39) |
V298A |
probably benign |
Het |
| Foxn4 |
T |
C |
5: 114,393,662 (GRCm39) |
T486A |
probably damaging |
Het |
| Gpc6 |
A |
T |
14: 118,125,932 (GRCm39) |
|
probably null |
Het |
| Grid2ip |
C |
T |
5: 143,371,847 (GRCm39) |
P690L |
probably benign |
Het |
| H2bc9 |
T |
C |
13: 23,727,162 (GRCm39) |
K121E |
possibly damaging |
Het |
| Hdhd2 |
C |
T |
18: 77,052,866 (GRCm39) |
T172M |
probably benign |
Het |
| Hr |
A |
T |
14: 70,795,547 (GRCm39) |
D393V |
probably benign |
Het |
| Ido2 |
T |
C |
8: 25,025,268 (GRCm39) |
Y253C |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Klra10 |
A |
G |
6: 130,246,264 (GRCm39) |
V237A |
probably benign |
Het |
| Klre1 |
A |
G |
6: 129,562,593 (GRCm39) |
K206R |
probably benign |
Het |
| Lama2 |
T |
C |
10: 26,862,793 (GRCm39) |
D2990G |
probably benign |
Het |
| Magi3 |
G |
A |
3: 103,928,382 (GRCm39) |
|
probably benign |
Het |
| Mamdc2 |
A |
T |
19: 23,281,267 (GRCm39) |
|
probably benign |
Het |
| Med23 |
T |
G |
10: 24,750,499 (GRCm39) |
S109A |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mtss2 |
A |
G |
8: 111,455,362 (GRCm39) |
K92E |
possibly damaging |
Het |
| Mybphl |
A |
G |
3: 108,272,317 (GRCm39) |
E2G |
probably damaging |
Het |
| Naip6 |
A |
G |
13: 100,420,067 (GRCm39) |
V1401A |
possibly damaging |
Het |
| Ncapg2 |
A |
G |
12: 116,393,296 (GRCm39) |
E500G |
probably damaging |
Het |
| Nlrp12 |
T |
C |
7: 3,282,575 (GRCm39) |
I775V |
probably benign |
Het |
| Nr4a2 |
T |
A |
2: 57,002,018 (GRCm39) |
D145V |
possibly damaging |
Het |
| Ntmt1 |
C |
A |
2: 30,710,472 (GRCm39) |
N58K |
probably benign |
Het |
| P2ry13 |
T |
C |
3: 59,117,449 (GRCm39) |
M110V |
probably damaging |
Het |
| P2ry14 |
T |
C |
3: 59,022,992 (GRCm39) |
N165S |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,077,461 (GRCm39) |
E423G |
probably benign |
Het |
| Polq |
C |
A |
16: 36,882,515 (GRCm39) |
Q1560K |
possibly damaging |
Het |
| Prrc1 |
G |
T |
18: 57,514,718 (GRCm39) |
D312Y |
probably damaging |
Het |
| Ptprm |
A |
T |
17: 67,032,846 (GRCm39) |
|
probably null |
Het |
| Ripk2 |
A |
T |
4: 16,152,011 (GRCm39) |
S183T |
possibly damaging |
Het |
| Robo1 |
T |
A |
16: 72,775,660 (GRCm39) |
F728L |
probably benign |
Het |
| Rttn |
A |
G |
18: 89,082,295 (GRCm39) |
N1407S |
probably benign |
Het |
| Sec14l1 |
A |
T |
11: 117,047,314 (GRCm39) |
H664L |
probably damaging |
Het |
| Slc10a7 |
G |
A |
8: 79,236,264 (GRCm39) |
G21S |
probably benign |
Het |
| Slc35a3 |
T |
C |
3: 116,467,285 (GRCm39) |
K325E |
possibly damaging |
Het |
| Spag17 |
C |
A |
3: 99,969,182 (GRCm39) |
|
probably null |
Het |
| Spesp1 |
A |
T |
9: 62,180,834 (GRCm39) |
L25M |
probably damaging |
Het |
| St6galnac1 |
G |
A |
11: 116,658,673 (GRCm39) |
Q264* |
probably null |
Het |
| Tgfbr3l |
A |
G |
8: 4,300,506 (GRCm39) |
E228G |
probably benign |
Het |
| Tlr5 |
T |
A |
1: 182,802,600 (GRCm39) |
S635T |
possibly damaging |
Het |
| Tmem233 |
G |
C |
5: 116,189,517 (GRCm39) |
|
probably benign |
Het |
| Tnfsf13b |
A |
T |
8: 10,057,306 (GRCm39) |
R125S |
probably benign |
Het |
| Tymp |
A |
T |
15: 89,258,011 (GRCm39) |
V378D |
probably damaging |
Het |
| Vmn1r38 |
G |
T |
6: 66,753,433 (GRCm39) |
Q228K |
probably benign |
Het |
| Vmn2r18 |
T |
C |
5: 151,510,127 (GRCm39) |
E82G |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,828,229 (GRCm39) |
V1461A |
possibly damaging |
Het |
| Xrn1 |
A |
G |
9: 95,888,765 (GRCm39) |
D948G |
possibly damaging |
Het |
| Zfp280d |
C |
A |
9: 72,209,052 (GRCm39) |
|
probably benign |
Het |
| Zfp418 |
G |
A |
7: 7,185,807 (GRCm39) |
R590K |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGTATGCATGCTACAATCTG -3'
(R):5'- GCACAGAGTCCCTCTCAAAG -3'
Sequencing Primer
(F):5'- TGCATGCTACAATCTGTAAAGAGG -3'
(R):5'- GAGTCCCTCTCAAAGCAAAGTTTG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation