Incidental Mutation 'R5521:Tbc1d14'
ID |
431537 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d14
|
Ensembl Gene |
ENSMUSG00000029192 |
Gene Name |
TBC1 domain family, member 14 |
Synonyms |
2810413P16Rik, D5Ertd110e |
MMRRC Submission |
043080-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5521 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
36647948-36743611 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 36677896 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 353
(E353V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115467
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031094]
[ENSMUST00000124036]
[ENSMUST00000126077]
[ENSMUST00000130417]
[ENSMUST00000136189]
[ENSMUST00000140607]
[ENSMUST00000141017]
[ENSMUST00000150813]
[ENSMUST00000146430]
[ENSMUST00000171385]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031094
AA Change: E353V
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000031094 Gene: ENSMUSG00000029192 AA Change: E353V
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 |
possibly damaging
Transcript: ENSMUST00000124036
AA Change: E373V
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000117414 Gene: ENSMUSG00000029192 AA Change: E373V
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: E72V
PolyPhen 2
Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000114508 Gene: ENSMUSG00000029192 AA Change: E72V
Domain | Start | End | E-Value | Type |
Blast:TBC
|
35 |
94 |
5e-9 |
BLAST |
TBC
|
118 |
354 |
1.49e-54 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000130417
AA Change: E373V
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000116519 Gene: ENSMUSG00000029192 AA Change: E373V
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: E353V
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000115467 Gene: ENSMUSG00000029192 AA Change: E353V
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 |
possibly damaging
Transcript: ENSMUST00000140607
AA Change: E353V
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000121516 Gene: ENSMUSG00000029192 AA Change: E353V
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: ENSMUST00000141017
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000150813
AA Change: E72V
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000115926 Gene: ENSMUSG00000029192 AA Change: E72V
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: ENSMUST00000146430
AA Change: E353V
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000121816 Gene: ENSMUSG00000029192 AA Change: E353V
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 |
possibly damaging
Transcript: ENSMUST00000171385
AA Change: E72V
PolyPhen 2
Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000131876 Gene: ENSMUSG00000029192 AA Change: E72V
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 |
noncoding transcript
Transcript: ENSMUST00000141626
|
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 |
0.2898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.5%
- 10x: 94.4%
- 20x: 87.5%
|
Validation Efficiency |
94% (72/77) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg4 |
A |
G |
9: 44,190,980 (GRCm39) |
|
probably benign |
Het |
Abhd14a |
G |
T |
9: 106,321,033 (GRCm39) |
D107E |
probably damaging |
Het |
Acat1 |
T |
A |
9: 53,494,807 (GRCm39) |
K362* |
probably null |
Het |
Adad2 |
T |
A |
8: 120,339,528 (GRCm39) |
S3R |
probably benign |
Het |
Adcy8 |
C |
A |
15: 64,687,199 (GRCm39) |
R435M |
probably damaging |
Het |
Adgrv1 |
A |
T |
13: 81,567,508 (GRCm39) |
S5222T |
probably benign |
Het |
Ankk1 |
A |
T |
9: 49,331,748 (GRCm39) |
M182K |
probably benign |
Het |
Apba1 |
C |
T |
19: 23,870,957 (GRCm39) |
P263L |
probably damaging |
Het |
Arhgap39 |
G |
A |
15: 76,649,694 (GRCm39) |
S26L |
possibly damaging |
Het |
Ccng1 |
G |
A |
11: 40,643,093 (GRCm39) |
T118I |
possibly damaging |
Het |
Cenpe |
T |
C |
3: 134,974,826 (GRCm39) |
S2329P |
probably damaging |
Het |
Chil4 |
A |
G |
3: 106,111,013 (GRCm39) |
Y294H |
possibly damaging |
Het |
Chst8 |
A |
C |
7: 34,374,670 (GRCm39) |
S390A |
probably benign |
Het |
Dars1 |
T |
C |
1: 128,301,710 (GRCm39) |
D308G |
probably benign |
Het |
Dlec1 |
A |
C |
9: 118,972,469 (GRCm39) |
Q1458P |
possibly damaging |
Het |
Dvl2 |
G |
A |
11: 69,897,233 (GRCm39) |
E312K |
probably damaging |
Het |
Fchsd1 |
T |
C |
18: 38,099,537 (GRCm39) |
H219R |
probably damaging |
Het |
Foxd4 |
A |
C |
19: 24,877,007 (GRCm39) |
C398G |
probably damaging |
Het |
Gm10719 |
T |
A |
9: 3,018,970 (GRCm39) |
F72I |
probably damaging |
Het |
Gm5414 |
T |
C |
15: 101,536,422 (GRCm39) |
I68V |
probably benign |
Het |
Gmip |
C |
T |
8: 70,270,049 (GRCm39) |
T684I |
probably damaging |
Het |
Gpr137c |
T |
C |
14: 45,516,151 (GRCm39) |
I295T |
possibly damaging |
Het |
Hivep1 |
T |
A |
13: 42,311,804 (GRCm39) |
M1348K |
probably damaging |
Het |
Igkv6-23 |
T |
C |
6: 70,237,597 (GRCm39) |
D48G |
probably benign |
Het |
Il3 |
G |
A |
11: 54,157,958 (GRCm39) |
T40M |
possibly damaging |
Het |
Ing2 |
T |
C |
8: 48,122,248 (GRCm39) |
E100G |
probably damaging |
Het |
Itpr3 |
C |
A |
17: 27,326,308 (GRCm39) |
H1359Q |
probably benign |
Het |
Lama1 |
T |
A |
17: 68,087,889 (GRCm39) |
Y1502* |
probably null |
Het |
Mamdc2 |
C |
A |
19: 23,288,302 (GRCm39) |
G579W |
probably damaging |
Het |
Mapk6 |
G |
A |
9: 75,300,598 (GRCm39) |
|
probably benign |
Het |
Mapk8ip2 |
C |
T |
15: 89,343,007 (GRCm39) |
R616W |
probably damaging |
Het |
Mc5r |
T |
A |
18: 68,472,748 (GRCm39) |
L369H |
possibly damaging |
Het |
Meis1 |
T |
C |
11: 18,938,260 (GRCm39) |
|
probably benign |
Het |
Mmp8 |
A |
G |
9: 7,560,644 (GRCm39) |
K107R |
probably benign |
Het |
Mn1 |
C |
T |
5: 111,569,635 (GRCm39) |
H1202Y |
possibly damaging |
Het |
Naip2 |
A |
G |
13: 100,291,422 (GRCm39) |
L1172P |
probably damaging |
Het |
Nek9 |
C |
T |
12: 85,374,219 (GRCm39) |
D273N |
probably benign |
Het |
Nlrp4e |
A |
T |
7: 23,021,190 (GRCm39) |
D559V |
probably benign |
Het |
Nlrp4g |
T |
C |
9: 124,350,020 (GRCm38) |
|
noncoding transcript |
Het |
Oit3 |
G |
T |
10: 59,271,736 (GRCm39) |
A207E |
probably benign |
Het |
Or13j1 |
A |
T |
4: 43,705,788 (GRCm39) |
M260K |
possibly damaging |
Het |
Or14a257 |
A |
T |
7: 86,137,839 (GRCm39) |
C307S |
probably benign |
Het |
Or4d2b |
A |
T |
11: 87,780,545 (GRCm39) |
M59K |
probably damaging |
Het |
Or5w16 |
A |
G |
2: 87,577,406 (GRCm39) |
I289V |
probably benign |
Het |
Pde4c |
T |
C |
8: 71,200,031 (GRCm39) |
|
probably null |
Het |
Ppp1r26 |
A |
G |
2: 28,341,438 (GRCm39) |
E356G |
probably benign |
Het |
Pramel13 |
A |
G |
4: 144,122,541 (GRCm39) |
M1T |
probably null |
Het |
Ptges3-ps |
T |
A |
6: 85,821,303 (GRCm39) |
|
noncoding transcript |
Het |
Ptpn13 |
T |
G |
5: 103,649,294 (GRCm39) |
F232L |
probably benign |
Het |
Reps1 |
T |
C |
10: 17,979,982 (GRCm39) |
S114P |
probably damaging |
Het |
Scarf2 |
T |
A |
16: 17,621,466 (GRCm39) |
|
probably null |
Het |
Sdha |
A |
T |
13: 74,498,218 (GRCm39) |
|
probably benign |
Het |
Secisbp2l |
A |
T |
2: 125,594,897 (GRCm39) |
V146D |
possibly damaging |
Het |
Slc26a8 |
T |
A |
17: 28,873,833 (GRCm39) |
T385S |
probably benign |
Het |
Slc4a1 |
G |
A |
11: 102,244,092 (GRCm39) |
T679M |
probably benign |
Het |
Thap2 |
T |
A |
10: 115,208,665 (GRCm39) |
K152* |
probably null |
Het |
Thbd |
A |
T |
2: 148,249,655 (GRCm39) |
I71N |
probably damaging |
Het |
V1ra8 |
T |
A |
6: 90,180,036 (GRCm39) |
W80R |
probably damaging |
Het |
Vmn1r218 |
A |
G |
13: 23,320,743 (GRCm39) |
Y30C |
probably benign |
Het |
Vmn2r60 |
C |
A |
7: 41,845,049 (GRCm39) |
T804K |
probably damaging |
Het |
Vmn2r68 |
A |
T |
7: 84,882,926 (GRCm39) |
D275E |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,858,721 (GRCm39) |
I2724V |
probably benign |
Het |
Xrcc5 |
C |
A |
1: 72,385,430 (GRCm39) |
P507Q |
probably damaging |
Het |
Zfp120 |
A |
T |
2: 149,959,499 (GRCm39) |
Y274* |
probably null |
Het |
Zfp780b |
C |
A |
7: 27,674,173 (GRCm39) |
|
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 |
|
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 |
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'- TCCAGCAACTCCAGCTTCTG -3'
(R):5'- ACATGCACTCAGGCTAGAGG -3'
Sequencing Primer
(F):5'- CCAGCTTCTGCCCACAG -3'
(R):5'- GCTGACCTTGAACCTGGTG -3'
|
Posted On |
2016-10-05 |