Incidental Mutation 'IGL02499:Tbc1d24'
ID |
295960 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tbc1d24
|
Ensembl Gene |
ENSMUSG00000036473 |
Gene Name |
TBC1 domain family, member 24 |
Synonyms |
C530046L02Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02499
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
24394405-24424536 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 24426593 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144575
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024931]
[ENSMUST00000040474]
[ENSMUST00000097376]
[ENSMUST00000167791]
[ENSMUST00000168410]
[ENSMUST00000202925]
[ENSMUST00000201301]
[ENSMUST00000201359]
[ENSMUST00000201805]
[ENSMUST00000201583]
[ENSMUST00000201960]
[ENSMUST00000201089]
|
AlphaFold |
Q3UUG6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024931
AA Change: N405S
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000024931 Gene: ENSMUSG00000036473 AA Change: N405S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
LamNT
|
34 |
253 |
8.83e-89 |
SMART |
EGF_Lam
|
255 |
308 |
3.03e-5 |
SMART |
EGF_Lam
|
311 |
371 |
1.29e-8 |
SMART |
EGF_Lam
|
374 |
421 |
9.83e-14 |
SMART |
C345C
|
456 |
571 |
2.72e-28 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000040474
|
SMART Domains |
Protein: ENSMUSP00000036458 Gene: ENSMUSG00000036473
Domain | Start | End | E-Value | Type |
TBC
|
42 |
259 |
1.78e-3 |
SMART |
TLDc
|
336 |
550 |
2.21e-79 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000097376
|
SMART Domains |
Protein: ENSMUSP00000094989 Gene: ENSMUSG00000036473
Domain | Start | End | E-Value | Type |
TBC
|
42 |
259 |
8.8e-6 |
SMART |
TLDc
|
342 |
556 |
7.8e-82 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137883
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148704
|
Predicted Effect |
probably null
Transcript: ENSMUST00000167791
|
SMART Domains |
Protein: ENSMUSP00000127005 Gene: ENSMUSG00000036473
Domain | Start | End | E-Value | Type |
TBC
|
42 |
259 |
8.6e-6 |
SMART |
TLDc
|
342 |
556 |
7.6e-82 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000168410
|
SMART Domains |
Protein: ENSMUSP00000128868 Gene: ENSMUSG00000036473
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: ENSMUST00000171563
|
Predicted Effect |
probably null
Transcript: ENSMUST00000202925
|
SMART Domains |
Protein: ENSMUSP00000144575 Gene: ENSMUSG00000036473
Domain | Start | End | E-Value | Type |
TBC
|
42 |
259 |
1.78e-3 |
SMART |
TLDc
|
336 |
550 |
2.21e-79 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000201301
|
SMART Domains |
Protein: ENSMUSP00000143949 Gene: ENSMUSG00000036473
Domain | Start | End | E-Value | Type |
TBC
|
42 |
259 |
8.8e-6 |
SMART |
TLDc
|
342 |
556 |
7.8e-82 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201359
|
SMART Domains |
Protein: ENSMUSP00000144026 Gene: ENSMUSG00000036473
Domain | Start | End | E-Value | Type |
TBC
|
42 |
259 |
1.78e-3 |
SMART |
Blast:TLDc
|
283 |
321 |
2e-13 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201805
|
SMART Domains |
Protein: ENSMUSP00000143883 Gene: ENSMUSG00000036473
Domain | Start | End | E-Value | Type |
TBC
|
42 |
259 |
8.8e-6 |
SMART |
TLDc
|
342 |
556 |
7.8e-82 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000201583
|
SMART Domains |
Protein: ENSMUSP00000144097 Gene: ENSMUSG00000036473
Domain | Start | End | E-Value | Type |
TLDc
|
1 |
182 |
5.2e-37 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000201960
|
SMART Domains |
Protein: ENSMUSP00000144208 Gene: ENSMUSG00000036473
Domain | Start | End | E-Value | Type |
TBC
|
42 |
259 |
1.78e-3 |
SMART |
TLDc
|
336 |
550 |
2.21e-79 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000201089
|
SMART Domains |
Protein: ENSMUSP00000144250 Gene: ENSMUSG00000036473
Domain | Start | End | E-Value | Type |
TBC
|
42 |
259 |
1.78e-3 |
SMART |
TLDc
|
336 |
550 |
2.21e-79 |
SMART |
|
Coding Region Coverage |
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
Abcb1a |
A |
G |
5: 8,776,807 (GRCm39) |
N835S |
possibly damaging |
Het |
Abr |
A |
T |
11: 76,399,916 (GRCm39) |
F27Y |
probably benign |
Het |
Adam5 |
C |
T |
8: 25,271,581 (GRCm39) |
|
probably null |
Het |
Alas1 |
A |
T |
9: 106,118,520 (GRCm39) |
Y201N |
probably damaging |
Het |
Aldoart1 |
T |
A |
4: 72,770,476 (GRCm39) |
R111W |
possibly damaging |
Het |
Arhgef25 |
A |
G |
10: 127,021,460 (GRCm39) |
Y253H |
probably damaging |
Het |
Arhgef28 |
G |
T |
13: 98,090,291 (GRCm39) |
A1076E |
possibly damaging |
Het |
Baz2b |
C |
T |
2: 59,731,840 (GRCm39) |
R2066K |
possibly damaging |
Het |
Bdh1 |
G |
T |
16: 31,256,866 (GRCm39) |
R5L |
possibly damaging |
Het |
Brap |
A |
G |
5: 121,817,934 (GRCm39) |
Y358C |
probably damaging |
Het |
Cad |
T |
C |
5: 31,226,948 (GRCm39) |
V1235A |
probably damaging |
Het |
Cadps |
G |
T |
14: 12,822,725 (GRCm38) |
S5* |
probably null |
Het |
Cd200r2 |
A |
G |
16: 44,734,948 (GRCm39) |
T220A |
possibly damaging |
Het |
Cd209e |
T |
A |
8: 3,904,238 (GRCm39) |
M6L |
probably benign |
Het |
Cdh23 |
G |
T |
10: 60,220,958 (GRCm39) |
T1265K |
probably damaging |
Het |
Clec16a |
T |
C |
16: 10,512,540 (GRCm39) |
S828P |
probably benign |
Het |
Dao |
A |
G |
5: 114,152,002 (GRCm39) |
K107E |
possibly damaging |
Het |
Dnah6 |
T |
A |
6: 72,998,210 (GRCm39) |
M4071L |
probably benign |
Het |
Dvl1 |
T |
C |
4: 155,939,237 (GRCm39) |
I250T |
probably benign |
Het |
Dzip3 |
A |
C |
16: 48,754,213 (GRCm39) |
L945V |
probably damaging |
Het |
Gm128 |
A |
G |
3: 95,147,992 (GRCm39) |
S101P |
possibly damaging |
Het |
Gphn |
T |
C |
12: 78,539,074 (GRCm39) |
L240P |
probably benign |
Het |
Hecw2 |
A |
G |
1: 53,965,647 (GRCm39) |
I393T |
probably benign |
Het |
Iigp1c |
T |
C |
18: 60,378,710 (GRCm39) |
S82P |
probably damaging |
Het |
Kat14 |
A |
G |
2: 144,235,751 (GRCm39) |
E161G |
probably benign |
Het |
Kcne3 |
A |
C |
7: 99,833,610 (GRCm39) |
I76L |
probably benign |
Het |
Kcnk18 |
A |
T |
19: 59,223,614 (GRCm39) |
Q253L |
probably benign |
Het |
Kmt2a |
T |
C |
9: 44,741,806 (GRCm39) |
|
probably benign |
Het |
Lrrc73 |
A |
G |
17: 46,567,915 (GRCm39) |
|
probably benign |
Het |
Mki67 |
A |
G |
7: 135,296,056 (GRCm39) |
S2993P |
possibly damaging |
Het |
Mto1 |
T |
A |
9: 78,368,794 (GRCm39) |
|
probably benign |
Het |
Myo9a |
T |
A |
9: 59,722,669 (GRCm39) |
|
probably benign |
Het |
Myt1 |
G |
A |
2: 181,467,342 (GRCm39) |
|
probably benign |
Het |
Ncoa7 |
T |
C |
10: 30,566,885 (GRCm39) |
T587A |
probably benign |
Het |
Nemf |
T |
A |
12: 69,368,903 (GRCm39) |
I771F |
probably damaging |
Het |
Or10k2 |
T |
A |
8: 84,267,812 (GRCm39) |
V13D |
possibly damaging |
Het |
Or5k16 |
A |
G |
16: 58,736,614 (GRCm39) |
L130P |
probably damaging |
Het |
Or8c10 |
A |
T |
9: 38,278,977 (GRCm39) |
Y45F |
probably benign |
Het |
Papln |
T |
C |
12: 83,827,445 (GRCm39) |
V761A |
probably benign |
Het |
Pask |
A |
T |
1: 93,248,817 (GRCm39) |
L861* |
probably null |
Het |
Pcdh18 |
T |
A |
3: 49,707,896 (GRCm39) |
R859S |
probably benign |
Het |
Ppip5k1 |
C |
T |
2: 121,162,034 (GRCm39) |
|
probably null |
Het |
Ptprs |
A |
G |
17: 56,744,884 (GRCm39) |
V284A |
probably damaging |
Het |
Rasgrp4 |
A |
T |
7: 28,850,928 (GRCm39) |
|
probably benign |
Het |
Rp1 |
T |
C |
1: 4,419,271 (GRCm39) |
I614V |
probably benign |
Het |
Sec23ip |
T |
C |
7: 128,378,640 (GRCm39) |
I818T |
probably damaging |
Het |
Skint11 |
G |
A |
4: 114,051,801 (GRCm39) |
A50T |
probably benign |
Het |
Sqor |
T |
A |
2: 122,650,007 (GRCm39) |
M417K |
possibly damaging |
Het |
Tbc1d8b |
A |
T |
X: 138,613,173 (GRCm39) |
D333V |
probably damaging |
Het |
Tbx2 |
T |
C |
11: 85,731,739 (GRCm39) |
S679P |
possibly damaging |
Het |
Thbs2 |
A |
G |
17: 14,904,328 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,689,795 (GRCm39) |
|
probably benign |
Het |
Vmn2r28 |
A |
T |
7: 5,493,568 (GRCm39) |
I126N |
probably damaging |
Het |
Zbtb10 |
G |
T |
3: 9,316,800 (GRCm39) |
G204V |
probably damaging |
Het |
Zfp426 |
A |
C |
9: 20,384,414 (GRCm39) |
|
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 |
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 |
R2425:Tbc1d24
|
UTSW |
17 |
24,404,982 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
|
Posted On |
2015-04-16 |