Incidental Mutation 'R0408:Tbc1d14'
| ID |
40082 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d14
|
| Ensembl Gene |
ENSMUSG00000029192 |
| Gene Name |
TBC1 domain family, member 14 |
| Synonyms |
2810413P16Rik, D5Ertd110e |
| MMRRC Submission |
038610-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0408 (G1)
|
| Quality Score |
187 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
36647948-36743611 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 36728643 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 241
(T241K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116735
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031094]
[ENSMUST00000124036]
[ENSMUST00000130417]
[ENSMUST00000136189]
[ENSMUST00000136490]
[ENSMUST00000139182]
[ENSMUST00000140179]
[ENSMUST00000146430]
[ENSMUST00000140607]
[ENSMUST00000147603]
[ENSMUST00000144997]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031094
AA Change: T241K
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000031094
Gene: ENSMUSG00000029192
AA Change: T241K
| 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: T261K
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000117414
Gene: ENSMUSG00000029192
AA Change: T261K
| 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: T261K
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000116519
Gene: ENSMUSG00000029192
AA Change: T261K
| 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: T241K
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000115467
Gene: ENSMUSG00000029192
AA Change: T241K
| 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: ENSMUST00000136490
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139182
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000140179
AA Change: T241K
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000116735
Gene: ENSMUSG00000029192
AA Change: T241K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
174 |
189 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146430
AA Change: T241K
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000121816
Gene: ENSMUSG00000029192
AA Change: T241K
| 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: ENSMUST00000140607
AA Change: T241K
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000121516
Gene: ENSMUSG00000029192
AA Change: T241K
| 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 |
unknown
Transcript: ENSMUST00000173532
AA Change: T82K
|
| SMART Domains |
Protein: ENSMUSP00000133477
Gene: ENSMUSG00000029192
AA Change: T82K
| 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 |
noncoding transcript
Transcript: ENSMUST00000156658
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150733
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147603
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144997
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.7%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
A |
5: 8,903,446 (GRCm39) |
N1032K |
probably damaging |
Het |
| Abcc8 |
A |
G |
7: 45,756,457 (GRCm39) |
I1416T |
probably damaging |
Het |
| Aco2 |
T |
C |
15: 81,797,319 (GRCm39) |
|
probably null |
Het |
| Akap13 |
C |
T |
7: 75,396,544 (GRCm39) |
L2514F |
probably damaging |
Het |
| Aldh1a3 |
A |
G |
7: 66,055,798 (GRCm39) |
V331A |
probably damaging |
Het |
| Arid3a |
T |
A |
10: 79,786,667 (GRCm39) |
D473E |
probably benign |
Het |
| Atg9a |
A |
G |
1: 75,161,939 (GRCm39) |
S536P |
probably damaging |
Het |
| Atxn7 |
A |
T |
14: 14,100,317 (GRCm38) |
S668C |
probably damaging |
Het |
| Bcar3 |
A |
T |
3: 122,302,033 (GRCm39) |
I243F |
probably damaging |
Het |
| Bend6 |
G |
A |
1: 33,901,834 (GRCm39) |
P183S |
probably damaging |
Het |
| Bfsp2 |
A |
T |
9: 103,357,299 (GRCm39) |
S43T |
probably benign |
Het |
| Camk4 |
G |
A |
18: 33,262,845 (GRCm39) |
D136N |
probably damaging |
Het |
| Ceacam3 |
G |
T |
7: 16,885,808 (GRCm39) |
|
probably benign |
Het |
| Chrm3 |
T |
C |
13: 9,927,969 (GRCm39) |
I356V |
probably benign |
Het |
| Clec9a |
T |
A |
6: 129,396,532 (GRCm39) |
I133N |
possibly damaging |
Het |
| Ctnnd2 |
T |
C |
15: 30,634,823 (GRCm39) |
L157P |
probably damaging |
Het |
| Ddhd2 |
T |
C |
8: 26,229,614 (GRCm39) |
|
probably null |
Het |
| Def8 |
T |
C |
8: 124,186,656 (GRCm39) |
V436A |
probably damaging |
Het |
| Dipk1c |
T |
A |
18: 84,738,488 (GRCm39) |
|
probably null |
Het |
| Dock10 |
T |
C |
1: 80,518,193 (GRCm39) |
K1293R |
probably benign |
Het |
| Dync1h1 |
T |
G |
12: 110,598,126 (GRCm39) |
D1772E |
probably benign |
Het |
| Ephx4 |
G |
T |
5: 107,561,387 (GRCm39) |
G72C |
probably damaging |
Het |
| Fam136a |
T |
G |
6: 86,343,707 (GRCm39) |
V68G |
possibly damaging |
Het |
| Fcgrt |
T |
C |
7: 44,751,363 (GRCm39) |
E195G |
probably damaging |
Het |
| Fut9 |
T |
A |
4: 25,620,319 (GRCm39) |
Q165L |
possibly damaging |
Het |
| Glb1l |
T |
C |
1: 75,185,479 (GRCm39) |
Y77C |
probably damaging |
Het |
| Gpr26 |
T |
C |
7: 131,569,249 (GRCm39) |
V198A |
possibly damaging |
Het |
| Gpr26 |
C |
A |
7: 131,576,001 (GRCm39) |
|
probably null |
Het |
| Gsdma3 |
A |
C |
11: 98,526,164 (GRCm39) |
E296A |
probably benign |
Het |
| Hyou1 |
G |
T |
9: 44,295,989 (GRCm39) |
G385W |
probably damaging |
Het |
| Il17rb |
T |
C |
14: 29,718,637 (GRCm39) |
S482G |
probably benign |
Het |
| Itgb4 |
A |
T |
11: 115,898,428 (GRCm39) |
R1715W |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,263,717 (GRCm39) |
S411G |
probably benign |
Het |
| Kdm3a |
C |
T |
6: 71,588,663 (GRCm39) |
D449N |
probably benign |
Het |
| Kifbp |
T |
C |
10: 62,401,832 (GRCm39) |
I23M |
probably benign |
Het |
| Klhl26 |
T |
C |
8: 70,905,130 (GRCm39) |
D226G |
probably damaging |
Het |
| Klra1 |
T |
A |
6: 130,354,737 (GRCm39) |
I94F |
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,589,894 (GRCm39) |
D808G |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,567,603 (GRCm39) |
M272I |
probably damaging |
Het |
| Masp2 |
A |
G |
4: 148,690,496 (GRCm39) |
D251G |
probably benign |
Het |
| Mob3b |
T |
C |
4: 35,083,991 (GRCm39) |
D66G |
probably damaging |
Het |
| Myo7a |
T |
C |
7: 97,705,988 (GRCm39) |
Q1863R |
probably damaging |
Het |
| Naa12 |
T |
C |
18: 80,255,029 (GRCm39) |
S108P |
probably damaging |
Het |
| Or10al3 |
G |
A |
17: 38,012,190 (GRCm39) |
V210I |
probably benign |
Het |
| Or4c103 |
A |
T |
2: 88,513,999 (GRCm39) |
F26I |
probably benign |
Het |
| Pdgfd |
T |
A |
9: 6,293,928 (GRCm39) |
Y167* |
probably null |
Het |
| Pfas |
A |
G |
11: 68,891,931 (GRCm39) |
|
probably null |
Het |
| Plin1 |
T |
A |
7: 79,372,394 (GRCm39) |
T393S |
probably damaging |
Het |
| Prdm15 |
A |
T |
16: 97,636,986 (GRCm39) |
N110K |
possibly damaging |
Het |
| Prune2 |
T |
A |
19: 17,099,674 (GRCm39) |
V1726D |
probably benign |
Het |
| Sestd1 |
T |
A |
2: 77,022,137 (GRCm39) |
D518V |
probably damaging |
Het |
| Setd2 |
C |
T |
9: 110,423,310 (GRCm39) |
P344S |
probably damaging |
Het |
| Slc22a1 |
A |
T |
17: 12,875,828 (GRCm39) |
I462N |
probably damaging |
Het |
| Slc6a1 |
G |
A |
6: 114,279,761 (GRCm39) |
V142I |
probably benign |
Het |
| Uaca |
T |
C |
9: 60,779,141 (GRCm39) |
L1176P |
possibly damaging |
Het |
| Ube2g1 |
G |
C |
11: 72,563,791 (GRCm39) |
G52A |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,259,934 (GRCm39) |
*957R |
probably null |
Het |
| Vmn2r125 |
A |
T |
4: 156,703,153 (GRCm39) |
E177V |
probably damaging |
Het |
| Vmn2r86 |
A |
G |
10: 130,282,723 (GRCm39) |
F631S |
probably damaging |
Het |
| Zc3h13 |
T |
A |
14: 75,529,626 (GRCm39) |
C42* |
probably null |
Het |
| Zc3h14 |
T |
G |
12: 98,730,082 (GRCm39) |
V13G |
probably damaging |
Het |
| Zfat |
A |
T |
15: 68,052,141 (GRCm39) |
V551D |
probably benign |
Het |
| Zfp618 |
C |
T |
4: 63,004,809 (GRCm39) |
R70W |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAACCAAGACTATTCCCGTGAGC -3'
(R):5'- TGACCCTGGAGAATGATGATGACCC -3'
Sequencing Primer
(F):5'- TATTCCCGTGAGCCAAGGAC -3'
(R):5'- TGATGACCCACAGTTTACTGACG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation