Incidental Mutation 'R2432:Slc25a13'
| ID |
250439 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc25a13
|
| Ensembl Gene |
ENSMUSG00000015112 |
| Gene Name |
solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 13 |
| Synonyms |
Ctrn, citrin |
| MMRRC Submission |
040393-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.418)
|
| Stock # |
R2432 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
6041218-6217173 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 6114017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 285
(M285K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139571
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015256]
[ENSMUST00000188414]
|
| AlphaFold |
Q9QXX4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015256
AA Change: M285K
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000015256
Gene: ENSMUSG00000015112
AA Change: M285K
| 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 benign
Transcript: ENSMUST00000177698
AA Change: M231K
PolyPhen 2
Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000143688
Gene: ENSMUSG00000015112
AA Change: M231K
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
52 |
80 |
2.8e-1 |
SMART |
|
EFh
|
86 |
114 |
3.1e-3 |
SMART |
|
Pfam:Mito_carr
|
273 |
339 |
3.2e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188414
AA Change: M285K
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000139571
Gene: ENSMUSG00000015112
AA Change: M285K
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203990
|
| Meta Mutation Damage Score |
0.1918 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (53/53) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,401,333 (GRCm39) |
|
probably benign |
Het |
| Adamts6 |
A |
T |
13: 104,563,485 (GRCm39) |
Y659F |
probably benign |
Het |
| Adamts9 |
C |
A |
6: 92,834,881 (GRCm39) |
G750W |
probably damaging |
Het |
| Adgrv1 |
GA |
GAA |
13: 81,688,251 (GRCm39) |
|
probably null |
Het |
| Aspscr1 |
A |
G |
11: 120,593,392 (GRCm39) |
|
probably benign |
Het |
| Calr3 |
A |
G |
8: 73,192,270 (GRCm39) |
|
probably benign |
Het |
| Cpt2 |
A |
T |
4: 107,761,723 (GRCm39) |
Y126* |
probably null |
Het |
| Cyp2d34 |
A |
G |
15: 82,503,212 (GRCm39) |
L94P |
probably damaging |
Het |
| Def6 |
A |
T |
17: 28,447,043 (GRCm39) |
D558V |
probably benign |
Het |
| Dnase1l2 |
G |
A |
17: 24,661,699 (GRCm39) |
T20I |
possibly damaging |
Het |
| Eif5b |
A |
G |
1: 38,058,423 (GRCm39) |
K242E |
unknown |
Het |
| Golim4 |
T |
C |
3: 75,799,249 (GRCm39) |
N478S |
possibly damaging |
Het |
| Helb |
A |
T |
10: 119,941,442 (GRCm39) |
D415E |
probably benign |
Het |
| Ifna12 |
T |
A |
4: 88,521,590 (GRCm39) |
|
probably benign |
Het |
| Jhy |
T |
A |
9: 40,872,182 (GRCm39) |
H109L |
probably benign |
Het |
| Krt87 |
A |
T |
15: 101,386,037 (GRCm39) |
Y241* |
probably null |
Het |
| Macf1 |
G |
T |
4: 123,577,789 (GRCm39) |
A65E |
probably damaging |
Het |
| Mug2 |
C |
A |
6: 122,061,335 (GRCm39) |
N1418K |
possibly damaging |
Het |
| Myo1f |
A |
G |
17: 33,794,823 (GRCm39) |
D21G |
probably damaging |
Het |
| Myo5a |
T |
A |
9: 75,120,155 (GRCm39) |
I1651N |
possibly damaging |
Het |
| Notch3 |
A |
T |
17: 32,372,778 (GRCm39) |
C598S |
probably damaging |
Het |
| Npat |
A |
T |
9: 53,469,435 (GRCm39) |
H307L |
probably damaging |
Het |
| Nr1h2 |
T |
C |
7: 44,200,791 (GRCm39) |
Q279R |
possibly damaging |
Het |
| Or4k52 |
T |
C |
2: 111,611,016 (GRCm39) |
V117A |
probably benign |
Het |
| Or6c6c |
A |
G |
10: 129,540,794 (GRCm39) |
T16A |
possibly damaging |
Het |
| Pcdhb16 |
A |
T |
18: 37,612,983 (GRCm39) |
N648Y |
probably damaging |
Het |
| Pdzrn3 |
G |
T |
6: 101,127,752 (GRCm39) |
S971R |
probably damaging |
Het |
| Plch2 |
A |
G |
4: 155,070,621 (GRCm39) |
*494Q |
probably null |
Het |
| Plekhg4 |
T |
A |
8: 106,108,468 (GRCm39) |
D1170E |
probably benign |
Het |
| Plekhm3 |
A |
G |
1: 64,977,015 (GRCm39) |
S152P |
probably damaging |
Het |
| Ppargc1b |
G |
A |
18: 61,440,870 (GRCm39) |
P683S |
possibly damaging |
Het |
| Prdm12 |
T |
G |
2: 31,541,864 (GRCm39) |
M191R |
probably benign |
Het |
| Prdm14 |
T |
C |
1: 13,195,857 (GRCm39) |
D68G |
probably benign |
Het |
| Prp2 |
C |
T |
6: 132,576,874 (GRCm39) |
P54S |
unknown |
Het |
| Prpf4b |
A |
G |
13: 35,067,324 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,468,840 (GRCm39) |
V1408E |
probably damaging |
Het |
| Rap1gds1 |
A |
G |
3: 138,662,011 (GRCm39) |
M415T |
probably damaging |
Het |
| Rps6ka5 |
A |
G |
12: 100,520,664 (GRCm39) |
F621S |
probably damaging |
Het |
| Rrm1 |
T |
A |
7: 102,092,279 (GRCm39) |
D35E |
probably benign |
Het |
| Rxfp3 |
T |
C |
15: 11,036,226 (GRCm39) |
H382R |
probably damaging |
Het |
| Slc11a1 |
A |
G |
1: 74,422,910 (GRCm39) |
|
probably benign |
Het |
| Slc30a3 |
T |
C |
5: 31,246,038 (GRCm39) |
S231G |
probably damaging |
Het |
| Slc44a2 |
A |
T |
9: 21,256,130 (GRCm39) |
I274F |
probably damaging |
Het |
| Tas2r119 |
A |
G |
15: 32,178,165 (GRCm39) |
I244V |
possibly damaging |
Het |
| Tenm2 |
C |
A |
11: 35,918,018 (GRCm39) |
R1914L |
probably damaging |
Het |
| Tfdp2 |
T |
C |
9: 96,192,643 (GRCm39) |
M242T |
probably damaging |
Het |
| Tmprss6 |
A |
G |
15: 78,349,304 (GRCm39) |
|
probably benign |
Het |
| Ttc6 |
C |
T |
12: 57,668,821 (GRCm39) |
P421L |
possibly damaging |
Het |
| Usp16 |
T |
A |
16: 87,263,246 (GRCm39) |
|
probably null |
Het |
| Usp40 |
T |
C |
1: 87,909,804 (GRCm39) |
E550G |
probably benign |
Het |
| Vmn2r28 |
T |
C |
7: 5,491,701 (GRCm39) |
Y182C |
probably damaging |
Het |
| Zfp382 |
A |
G |
7: 29,833,174 (GRCm39) |
D275G |
probably benign |
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 |
|
|
IGL02237:Slc25a13
|
APN |
6 |
6,042,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCCTCCTCAAAATGCCTG -3'
(R):5'- CAGATTTATATGAGCCGAGGGG -3'
Sequencing Primer
(F):5'- CTCCTCAAAATGCCTGAATTTGGGG -3'
(R):5'- TAATGAAGGCCCACACTG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation