Incidental Mutation 'R2425:Tbc1d24'
| ID |
250174 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d24
|
| Ensembl Gene |
ENSMUSG00000036473 |
| Gene Name |
TBC1 domain family, member 24 |
| Synonyms |
C530046L02Rik |
| MMRRC Submission |
040387-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2425 (G1)
|
| Quality Score |
215 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
24394405-24424536 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 24404982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 54
(V54E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040474]
[ENSMUST00000097376]
[ENSMUST00000167791]
[ENSMUST00000168378]
[ENSMUST00000168410]
[ENSMUST00000171189]
[ENSMUST00000201089]
[ENSMUST00000201359]
[ENSMUST00000201301]
[ENSMUST00000201805]
[ENSMUST00000201960]
[ENSMUST00000202853]
[ENSMUST00000202925]
[ENSMUST00000201583]
|
| AlphaFold |
Q3UUG6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040474
AA Change: V54E
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000036458
Gene: ENSMUSG00000036473
AA Change: V54E
| Domain | Start | End | E-Value | Type |
|---|
|
TBC
|
42 |
259 |
1.78e-3 |
SMART |
|
TLDc
|
336 |
550 |
2.21e-79 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097376
AA Change: V54E
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000094989
Gene: ENSMUSG00000036473
AA Change: V54E
| Domain | Start | End | E-Value | Type |
|---|
|
TBC
|
42 |
259 |
8.8e-6 |
SMART |
|
TLDc
|
342 |
556 |
7.8e-82 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167791
AA Change: V54E
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127005
Gene: ENSMUSG00000036473
AA Change: V54E
| Domain | Start | End | E-Value | Type |
|---|
|
TBC
|
42 |
259 |
8.6e-6 |
SMART |
|
TLDc
|
342 |
556 |
7.6e-82 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168378
AA Change: V54E
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126107
Gene: ENSMUSG00000036473
AA Change: V54E
| Domain | Start | End | E-Value | Type |
|---|
|
TBC
|
42 |
259 |
1.78e-3 |
SMART |
|
TLDc
|
336 |
550 |
2.21e-79 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168410
AA Change: V54E
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128868
Gene: ENSMUSG00000036473
AA Change: V54E
| Domain | Start | End | E-Value | Type |
|---|
|
TBC
|
42 |
259 |
1.78e-3 |
SMART |
|
TLDc
|
336 |
550 |
2.21e-79 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171189
AA Change: V54E
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128001
Gene: ENSMUSG00000036473
AA Change: V54E
| Domain | Start | End | E-Value | Type |
|---|
|
TBC
|
42 |
259 |
1.78e-3 |
SMART |
|
TLDc
|
336 |
550 |
2.21e-79 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000201089
AA Change: V54E
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144250
Gene: ENSMUSG00000036473
AA Change: V54E
| Domain | Start | End | E-Value | Type |
|---|
|
TBC
|
42 |
259 |
1.78e-3 |
SMART |
|
TLDc
|
336 |
550 |
2.21e-79 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201359
AA Change: V54E
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144026
Gene: ENSMUSG00000036473
AA Change: V54E
| Domain | Start | End | E-Value | Type |
|---|
|
TBC
|
42 |
259 |
1.78e-3 |
SMART |
|
Blast:TLDc
|
283 |
321 |
2e-13 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000201301
AA Change: V54E
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000143949
Gene: ENSMUSG00000036473
AA Change: V54E
| Domain | Start | End | E-Value | Type |
|---|
|
TBC
|
42 |
259 |
8.8e-6 |
SMART |
|
TLDc
|
342 |
556 |
7.8e-82 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000201805
AA Change: V54E
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000143883
Gene: ENSMUSG00000036473
AA Change: V54E
| Domain | Start | End | E-Value | Type |
|---|
|
TBC
|
42 |
259 |
8.8e-6 |
SMART |
|
TLDc
|
342 |
556 |
7.8e-82 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000201960
AA Change: V54E
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144208
Gene: ENSMUSG00000036473
AA Change: V54E
| Domain | Start | End | E-Value | Type |
|---|
|
TBC
|
42 |
259 |
1.78e-3 |
SMART |
|
TLDc
|
336 |
550 |
2.21e-79 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202853
AA Change: V54E
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144462
Gene: ENSMUSG00000107169
AA Change: V54E
| Domain | Start | End | E-Value | Type |
|---|
|
TBC
|
42 |
259 |
8.8e-6 |
SMART |
|
Blast:TLDc
|
283 |
321 |
4e-13 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202925
AA Change: V54E
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144575
Gene: ENSMUSG00000036473
AA Change: V54E
| Domain | Start | End | E-Value | Type |
|---|
|
TBC
|
42 |
259 |
1.78e-3 |
SMART |
|
TLDc
|
336 |
550 |
2.21e-79 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201716
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202018
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201583
|
| SMART Domains |
Protein: ENSMUSP00000144097
Gene: ENSMUSG00000036473
| Domain | Start | End | E-Value | Type |
|---|
|
TLDc
|
1 |
182 |
5.2e-37 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,959,033 (GRCm39) |
F621S |
probably damaging |
Het |
| Abcc10 |
A |
G |
17: 46,621,083 (GRCm39) |
Y976H |
probably damaging |
Het |
| Abhd6 |
T |
A |
14: 8,049,857 (GRCm38) |
N215K |
probably benign |
Het |
| Adcy4 |
T |
C |
14: 56,015,474 (GRCm39) |
T479A |
probably damaging |
Het |
| Amacr |
A |
G |
15: 10,983,454 (GRCm39) |
Q88R |
possibly damaging |
Het |
| Ankrd11 |
T |
A |
8: 123,619,902 (GRCm39) |
I1317F |
possibly damaging |
Het |
| Ano3 |
C |
A |
2: 110,693,188 (GRCm39) |
A137S |
probably benign |
Het |
| Astn1 |
T |
G |
1: 158,407,236 (GRCm39) |
S562A |
probably damaging |
Het |
| Cd44 |
T |
A |
2: 102,691,931 (GRCm39) |
Y119F |
probably damaging |
Het |
| CN725425 |
A |
C |
15: 91,130,058 (GRCm39) |
D307A |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,585,648 (GRCm39) |
Y1243C |
probably damaging |
Het |
| Cyp2c50 |
T |
C |
19: 40,078,292 (GRCm39) |
I50T |
probably benign |
Het |
| Dhrs9 |
A |
G |
2: 69,223,308 (GRCm39) |
K19E |
probably benign |
Het |
| Dnajb14 |
T |
G |
3: 137,598,666 (GRCm39) |
F135V |
probably null |
Het |
| Draxin |
T |
A |
4: 148,197,213 (GRCm39) |
T195S |
possibly damaging |
Het |
| Elane |
C |
T |
10: 79,723,610 (GRCm39) |
R192C |
probably benign |
Het |
| Fam171a2 |
A |
C |
11: 102,329,187 (GRCm39) |
I524S |
possibly damaging |
Het |
| Fbxo10 |
C |
T |
4: 45,051,642 (GRCm39) |
E490K |
possibly damaging |
Het |
| Fkbp15 |
T |
C |
4: 62,230,602 (GRCm39) |
T704A |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 8,023,850 (GRCm39) |
D35V |
probably damaging |
Het |
| Galntl5 |
A |
G |
5: 25,425,079 (GRCm39) |
K366E |
probably damaging |
Het |
| Gas7 |
G |
A |
11: 67,534,121 (GRCm39) |
A74T |
probably benign |
Het |
| Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
| Gldc |
T |
A |
19: 30,109,190 (GRCm39) |
N583Y |
probably damaging |
Het |
| Gpr161 |
T |
A |
1: 165,138,192 (GRCm39) |
S259R |
possibly damaging |
Het |
| Igfn1 |
T |
A |
1: 135,890,840 (GRCm39) |
T2387S |
probably damaging |
Het |
| Il3 |
A |
T |
11: 54,156,375 (GRCm39) |
V119D |
possibly damaging |
Het |
| Ints3 |
T |
C |
3: 90,301,417 (GRCm39) |
T822A |
possibly damaging |
Het |
| Jakmip1 |
C |
T |
5: 37,299,149 (GRCm39) |
Q790* |
probably null |
Het |
| Kcne1 |
A |
G |
16: 92,145,646 (GRCm39) |
I66T |
probably damaging |
Het |
| Nipbl |
A |
G |
15: 8,380,966 (GRCm39) |
S609P |
probably benign |
Het |
| Or10d5 |
T |
C |
9: 39,861,137 (GRCm39) |
E310G |
probably null |
Het |
| Or2t48 |
A |
G |
11: 58,420,137 (GRCm39) |
I225T |
probably damaging |
Het |
| Or8k21 |
A |
G |
2: 86,144,739 (GRCm39) |
V297A |
probably damaging |
Het |
| Pdxdc1 |
A |
T |
16: 13,697,372 (GRCm39) |
S103T |
possibly damaging |
Het |
| Pla2g2a |
C |
A |
4: 138,560,229 (GRCm39) |
A24E |
possibly damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pramel1 |
T |
G |
4: 143,125,036 (GRCm39) |
L320R |
probably damaging |
Het |
| Rad23b |
T |
A |
4: 55,385,438 (GRCm39) |
I325N |
probably damaging |
Het |
| Rasgrp1 |
C |
G |
2: 117,119,931 (GRCm39) |
|
probably null |
Het |
| Rbm12b1 |
T |
A |
4: 12,146,443 (GRCm39) |
I805N |
probably damaging |
Het |
| Shld2 |
A |
G |
14: 33,990,646 (GRCm39) |
S87P |
probably damaging |
Het |
| Slc12a9 |
G |
T |
5: 137,313,859 (GRCm39) |
A700E |
probably damaging |
Het |
| Tmc8 |
A |
G |
11: 117,683,395 (GRCm39) |
D650G |
probably damaging |
Het |
| Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,270,001 (GRCm39) |
N1749K |
possibly damaging |
Het |
| Usp42 |
T |
C |
5: 143,701,594 (GRCm39) |
T810A |
probably benign |
Het |
| Wdr70 |
C |
A |
15: 7,916,840 (GRCm39) |
E526* |
probably null |
Het |
| Zfp935 |
G |
T |
13: 62,602,922 (GRCm39) |
Q93K |
probably benign |
Het |
|
| Other mutations in Tbc1d24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01060:Tbc1d24
|
APN |
17 |
24,404,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01511:Tbc1d24
|
APN |
17 |
24,400,892 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02499:Tbc1d24
|
APN |
17 |
24,426,593 (GRCm39) |
splice site |
probably null |
|
|
IGL02706:Tbc1d24
|
APN |
17 |
24,404,395 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1464:Tbc1d24
|
UTSW |
17 |
24,400,197 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1464:Tbc1d24
|
UTSW |
17 |
24,400,197 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1529:Tbc1d24
|
UTSW |
17 |
24,404,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1985:Tbc1d24
|
UTSW |
17 |
24,426,938 (GRCm39) |
nonsense |
probably null |
|
|
R1987:Tbc1d24
|
UTSW |
17 |
24,425,846 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2902:Tbc1d24
|
UTSW |
17 |
24,426,220 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4622:Tbc1d24
|
UTSW |
17 |
24,427,865 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4946:Tbc1d24
|
UTSW |
17 |
24,427,510 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5428:Tbc1d24
|
UTSW |
17 |
24,400,746 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5890:Tbc1d24
|
UTSW |
17 |
24,404,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5991:Tbc1d24
|
UTSW |
17 |
24,428,043 (GRCm39) |
unclassified |
probably benign |
|
|
R6002:Tbc1d24
|
UTSW |
17 |
24,402,761 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R6145:Tbc1d24
|
UTSW |
17 |
24,427,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6245:Tbc1d24
|
UTSW |
17 |
24,404,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6399:Tbc1d24
|
UTSW |
17 |
24,427,303 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6764:Tbc1d24
|
UTSW |
17 |
24,404,754 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6893:Tbc1d24
|
UTSW |
17 |
24,401,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7219:Tbc1d24
|
UTSW |
17 |
24,404,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7262:Tbc1d24
|
UTSW |
17 |
24,426,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7490:Tbc1d24
|
UTSW |
17 |
24,401,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8013:Tbc1d24
|
UTSW |
17 |
24,401,795 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8014:Tbc1d24
|
UTSW |
17 |
24,401,795 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8558:Tbc1d24
|
UTSW |
17 |
24,427,903 (GRCm39) |
missense |
unknown |
|
|
R9036:Tbc1d24
|
UTSW |
17 |
24,427,491 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9050:Tbc1d24
|
UTSW |
17 |
24,404,899 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9050:Tbc1d24
|
UTSW |
17 |
24,404,898 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9094:Tbc1d24
|
UTSW |
17 |
24,400,274 (GRCm39) |
nonsense |
probably null |
|
|
R9276:Tbc1d24
|
UTSW |
17 |
24,405,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9338:Tbc1d24
|
UTSW |
17 |
24,427,377 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9425:Tbc1d24
|
UTSW |
17 |
24,404,382 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Tbc1d24
|
UTSW |
17 |
24,425,780 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACACAGGAGGATCTTGCGC -3'
(R):5'- TCAATCCTACAGGGTGTGTGG -3'
Sequencing Primer
(F):5'- GCGCACAGCCCCTTCAC -3'
(R):5'- TGTGGGATGACAGACTGGTTAAC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation