Incidental Mutation 'IGL02237:Slc25a13'
| ID |
285909 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc25a13
|
| Ensembl Gene |
ENSMUSG00000015112 |
| Gene Name |
solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 13 |
| Synonyms |
Ctrn, citrin |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.418)
|
| Stock # |
IGL02237
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
6041218-6217173 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 6042646 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 586
(R586H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139571
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015256]
[ENSMUST00000188414]
|
| AlphaFold |
Q9QXX4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000015256
AA Change: R586H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000015256
Gene: ENSMUSG00000015112
AA Change: R586H
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
57 |
85 |
5.75e1 |
SMART |
|
EFh
|
91 |
119 |
6.14e-1 |
SMART |
|
EFh
|
162 |
190 |
7.87e1 |
SMART |
|
Pfam:Mito_carr
|
327 |
424 |
5.2e-27 |
PFAM |
|
Pfam:Mito_carr
|
425 |
516 |
1.2e-17 |
PFAM |
|
Pfam:Mito_carr
|
517 |
612 |
1.3e-28 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188414
AA Change: R586H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139571
Gene: ENSMUSG00000015112
AA Change: R586H
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
57 |
85 |
5.75e1 |
SMART |
|
EFh
|
91 |
119 |
6.14e-1 |
SMART |
|
EFh
|
162 |
190 |
7.87e1 |
SMART |
|
Pfam:Mito_carr
|
327 |
424 |
2.6e-26 |
PFAM |
|
Pfam:Mito_carr
|
425 |
516 |
4.4e-19 |
PFAM |
|
Pfam:Mito_carr
|
517 |
612 |
1.4e-29 |
PFAM |
|
| 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 is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. Mutations in this gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene appear normal, healthy and fertile, although they have a number of metabolic defects, but the spontaneous hyperspin deletion spanning from intron 3 to exon 17 also eliminates a modifier of Dlx5 causing a recessive vestibular and mortality phenotype [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16b |
T |
A |
2: 181,135,350 (GRCm39) |
V84E |
probably benign |
Het |
| Adam39 |
A |
T |
8: 41,278,482 (GRCm39) |
E291V |
probably benign |
Het |
| Ak5 |
T |
A |
3: 152,204,980 (GRCm39) |
D372V |
probably benign |
Het |
| Brpf1 |
C |
T |
6: 113,287,336 (GRCm39) |
P188L |
probably damaging |
Het |
| Cacna2d3 |
C |
T |
14: 29,068,954 (GRCm39) |
V258I |
probably benign |
Het |
| Cd14 |
A |
G |
18: 36,858,912 (GRCm39) |
F181S |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cts6 |
A |
T |
13: 61,345,313 (GRCm39) |
D261E |
probably benign |
Het |
| Daam1 |
A |
G |
12: 72,029,495 (GRCm39) |
T897A |
probably benign |
Het |
| Ddx25 |
T |
A |
9: 35,453,365 (GRCm39) |
|
probably benign |
Het |
| Ddx55 |
A |
G |
5: 124,705,958 (GRCm39) |
E461G |
probably damaging |
Het |
| Degs1 |
T |
C |
1: 182,107,253 (GRCm39) |
K2R |
probably damaging |
Het |
| Drc7 |
C |
T |
8: 95,799,507 (GRCm39) |
L561F |
probably damaging |
Het |
| Eif4enif1 |
A |
T |
11: 3,177,876 (GRCm39) |
K423* |
probably null |
Het |
| Epha7 |
A |
G |
4: 28,949,325 (GRCm39) |
|
probably null |
Het |
| Erich5 |
A |
C |
15: 34,471,482 (GRCm39) |
E237A |
probably benign |
Het |
| Ficd |
A |
G |
5: 113,876,373 (GRCm39) |
T183A |
probably damaging |
Het |
| Foxb2 |
T |
C |
19: 16,850,908 (GRCm39) |
M33V |
unknown |
Het |
| Gja8 |
T |
G |
3: 96,827,249 (GRCm39) |
S138R |
probably benign |
Het |
| Gm28042 |
T |
G |
2: 119,870,380 (GRCm39) |
L743V |
possibly damaging |
Het |
| Gtf3c2 |
A |
T |
5: 31,316,397 (GRCm39) |
|
probably benign |
Het |
| Itga11 |
T |
C |
9: 62,663,057 (GRCm39) |
|
probably null |
Het |
| Kazn |
A |
T |
4: 141,874,410 (GRCm39) |
D315E |
probably benign |
Het |
| Kbtbd2 |
A |
T |
6: 56,756,033 (GRCm39) |
S568T |
possibly damaging |
Het |
| Man1c1 |
A |
C |
4: 134,311,609 (GRCm39) |
|
probably null |
Het |
| Myh9 |
A |
G |
15: 77,670,854 (GRCm39) |
S463P |
probably benign |
Het |
| Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
| Oog2 |
T |
A |
4: 143,923,016 (GRCm39) |
F427Y |
possibly damaging |
Het |
| Pcmtd1 |
T |
C |
1: 7,233,601 (GRCm39) |
|
probably null |
Het |
| Pcnt |
C |
A |
10: 76,188,818 (GRCm39) |
D2861Y |
probably damaging |
Het |
| Pdzd7 |
C |
T |
19: 45,028,697 (GRCm39) |
A149T |
probably damaging |
Het |
| Pebp4 |
A |
T |
14: 70,297,105 (GRCm39) |
T215S |
possibly damaging |
Het |
| Pgm1 |
T |
C |
4: 99,820,707 (GRCm39) |
|
probably benign |
Het |
| Plekhh2 |
T |
A |
17: 84,883,213 (GRCm39) |
D760E |
probably benign |
Het |
| Pomt1 |
T |
C |
2: 32,135,689 (GRCm39) |
I351T |
probably benign |
Het |
| Ptpn21 |
C |
T |
12: 98,671,351 (GRCm39) |
|
probably null |
Het |
| Rsad2 |
T |
G |
12: 26,506,186 (GRCm39) |
Y78S |
probably damaging |
Het |
| Rsbn1l |
A |
T |
5: 21,124,604 (GRCm39) |
N399K |
probably benign |
Het |
| Sec31a |
A |
G |
5: 100,509,914 (GRCm39) |
V1191A |
probably damaging |
Het |
| Sema6c |
C |
T |
3: 95,077,430 (GRCm39) |
P414L |
probably damaging |
Het |
| Serpinb5 |
T |
C |
1: 106,808,056 (GRCm39) |
S69P |
probably benign |
Het |
| Spink5 |
T |
A |
18: 44,145,934 (GRCm39) |
M776K |
probably benign |
Het |
| Srcap |
A |
G |
7: 127,133,864 (GRCm39) |
|
probably benign |
Het |
| Stt3a |
G |
A |
9: 36,660,933 (GRCm39) |
Q293* |
probably null |
Het |
| Syne4 |
T |
A |
7: 30,015,988 (GRCm39) |
|
probably null |
Het |
| Tomm40l |
C |
T |
1: 171,048,463 (GRCm39) |
V97M |
possibly damaging |
Het |
| Trpc4 |
C |
T |
3: 54,129,783 (GRCm39) |
S183F |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,716,478 (GRCm39) |
|
probably benign |
Het |
| Ufl1 |
A |
C |
4: 25,269,082 (GRCm39) |
S170A |
probably benign |
Het |
| Vmn2r66 |
G |
A |
7: 84,643,908 (GRCm39) |
T834I |
probably benign |
Het |
| Vmn2r75 |
A |
G |
7: 85,814,786 (GRCm39) |
S236P |
possibly damaging |
Het |
| Zfp345 |
A |
T |
2: 150,316,805 (GRCm39) |
|
probably benign |
Het |
| Zfp955b |
T |
C |
17: 33,520,893 (GRCm39) |
S121P |
probably damaging |
Het |
|
| Other mutations in Slc25a13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01333:Slc25a13
|
APN |
6 |
6,042,739 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02285:Slc25a13
|
APN |
6 |
6,042,643 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02287:Slc25a13
|
APN |
6 |
6,216,992 (GRCm39) |
splice site |
probably benign |
|
|
IGL02593:Slc25a13
|
APN |
6 |
6,042,265 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0028:Slc25a13
|
UTSW |
6 |
6,181,047 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0045:Slc25a13
|
UTSW |
6 |
6,109,277 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0384:Slc25a13
|
UTSW |
6 |
6,042,600 (GRCm39) |
nonsense |
probably null |
|
|
R0711:Slc25a13
|
UTSW |
6 |
6,117,128 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1299:Slc25a13
|
UTSW |
6 |
6,113,937 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1625:Slc25a13
|
UTSW |
6 |
6,096,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1701:Slc25a13
|
UTSW |
6 |
6,152,525 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1792:Slc25a13
|
UTSW |
6 |
6,115,104 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1932:Slc25a13
|
UTSW |
6 |
6,042,264 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1933:Slc25a13
|
UTSW |
6 |
6,109,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1952:Slc25a13
|
UTSW |
6 |
6,152,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1969:Slc25a13
|
UTSW |
6 |
6,096,668 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2027:Slc25a13
|
UTSW |
6 |
6,073,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2074:Slc25a13
|
UTSW |
6 |
6,114,017 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2432:Slc25a13
|
UTSW |
6 |
6,114,017 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2508:Slc25a13
|
UTSW |
6 |
6,117,190 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3774:Slc25a13
|
UTSW |
6 |
6,109,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3775:Slc25a13
|
UTSW |
6 |
6,109,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4804:Slc25a13
|
UTSW |
6 |
6,109,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4816:Slc25a13
|
UTSW |
6 |
6,114,274 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4978:Slc25a13
|
UTSW |
6 |
6,042,300 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6529:Slc25a13
|
UTSW |
6 |
6,073,451 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6615:Slc25a13
|
UTSW |
6 |
6,073,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6709:Slc25a13
|
UTSW |
6 |
6,073,440 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7346:Slc25a13
|
UTSW |
6 |
6,181,100 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7571:Slc25a13
|
UTSW |
6 |
6,052,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7807:Slc25a13
|
UTSW |
6 |
6,117,164 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7852:Slc25a13
|
UTSW |
6 |
6,152,461 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8460:Slc25a13
|
UTSW |
6 |
6,073,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8710:Slc25a13
|
UTSW |
6 |
6,114,238 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9128:Slc25a13
|
UTSW |
6 |
6,109,987 (GRCm39) |
missense |
probably null |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation