Incidental Mutation 'IGL02193:Slc25a3'
| ID |
283962 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc25a3
|
| Ensembl Gene |
ENSMUSG00000061904 |
| Gene Name |
solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 3 |
| Synonyms |
Phc, 5730556H19Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02193
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
90952436-90959902 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90953977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 245
(V245A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127098
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076694]
[ENSMUST00000163246]
[ENSMUST00000164505]
[ENSMUST00000170810]
|
| AlphaFold |
Q8VEM8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076694
AA Change: V244A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000075987
Gene: ENSMUSG00000061904
AA Change: V244A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
46 |
N/A |
INTRINSIC |
|
Pfam:Mito_carr
|
58 |
147 |
3.9e-23 |
PFAM |
|
Pfam:Mito_carr
|
156 |
243 |
4.8e-19 |
PFAM |
|
Pfam:Mito_carr
|
254 |
338 |
3.7e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000103979
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163246
|
| SMART Domains |
Protein: ENSMUSP00000129301
Gene: ENSMUSG00000061904
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
73 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164505
AA Change: V244A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000132480
Gene: ENSMUSG00000061904
AA Change: V244A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
46 |
N/A |
INTRINSIC |
|
Pfam:Mito_carr
|
58 |
147 |
3.9e-23 |
PFAM |
|
Pfam:Mito_carr
|
156 |
243 |
4.8e-19 |
PFAM |
|
Pfam:Mito_carr
|
254 |
338 |
3.7e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167455
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169339
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170810
AA Change: V245A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000127098
Gene: ENSMUSG00000061904
AA Change: V245A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
46 |
N/A |
INTRINSIC |
|
Pfam:Mito_carr
|
59 |
147 |
8.6e-21 |
PFAM |
|
Pfam:Mito_carr
|
157 |
245 |
4.4e-19 |
PFAM |
|
Pfam:Mito_carr
|
255 |
339 |
2.8e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171960
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172442
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the transport of phosphate into the mitochondrial matrix, either by proton cotransport or in exchange for hydroxyl ions. The protein contains three related segments arranged in tandem which are related to those found in other characterized members of the mitochondrial carrier family. Both the N-terminal and C-terminal regions of this protein protrude toward the cytosol. Multiple alternatively spliced transcript variants have been isolated. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
A |
G |
3: 116,572,815 (GRCm39) |
L812P |
probably damaging |
Het |
| Ankmy1 |
A |
T |
1: 92,808,767 (GRCm39) |
F714I |
probably benign |
Het |
| Armh3 |
G |
T |
19: 45,961,323 (GRCm39) |
T118K |
probably benign |
Het |
| Celf5 |
A |
G |
10: 81,306,507 (GRCm39) |
I52T |
probably damaging |
Het |
| Clstn1 |
T |
C |
4: 149,729,809 (GRCm39) |
V771A |
probably benign |
Het |
| Enpep |
G |
T |
3: 129,075,336 (GRCm39) |
L661I |
possibly damaging |
Het |
| Faxc |
A |
G |
4: 21,993,486 (GRCm39) |
N377D |
possibly damaging |
Het |
| Gabrb3 |
A |
G |
7: 57,442,264 (GRCm39) |
E190G |
probably damaging |
Het |
| Gm4787 |
C |
T |
12: 81,425,302 (GRCm39) |
M285I |
probably benign |
Het |
| Gm5900 |
A |
C |
7: 104,599,231 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6133 |
A |
G |
18: 78,393,308 (GRCm39) |
N101D |
probably benign |
Het |
| Gtse1 |
A |
G |
15: 85,746,531 (GRCm39) |
K116E |
probably benign |
Het |
| H2-D1 |
T |
G |
17: 35,484,785 (GRCm39) |
H215Q |
possibly damaging |
Het |
| Hdc |
A |
T |
2: 126,443,700 (GRCm39) |
|
probably benign |
Het |
| Hnrnph3 |
T |
C |
10: 62,853,056 (GRCm39) |
H195R |
probably damaging |
Het |
| Ipo8 |
T |
C |
6: 148,678,782 (GRCm39) |
T939A |
probably damaging |
Het |
| Irag1 |
A |
T |
7: 110,498,162 (GRCm39) |
L411Q |
probably damaging |
Het |
| Krt79 |
G |
T |
15: 101,848,340 (GRCm39) |
P104T |
possibly damaging |
Het |
| Lama4 |
A |
T |
10: 38,918,670 (GRCm39) |
M384L |
probably benign |
Het |
| Lamb2 |
T |
G |
9: 108,366,559 (GRCm39) |
D1590E |
probably benign |
Het |
| Ly6i |
A |
T |
15: 74,854,879 (GRCm39) |
C10* |
probably null |
Het |
| Mamdc4 |
G |
A |
2: 25,454,458 (GRCm39) |
A1082V |
probably benign |
Het |
| Nlrp4a |
T |
A |
7: 26,159,117 (GRCm39) |
L799H |
probably damaging |
Het |
| Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
| Or2y13 |
C |
T |
11: 49,414,571 (GRCm39) |
T7I |
possibly damaging |
Het |
| Or5al6 |
A |
T |
2: 85,977,059 (GRCm39) |
N6K |
probably benign |
Het |
| Or6b1 |
T |
C |
6: 42,815,753 (GRCm39) |
|
probably benign |
Het |
| Otud6b |
T |
C |
4: 14,812,543 (GRCm39) |
H268R |
probably damaging |
Het |
| Peg3 |
T |
C |
7: 6,714,927 (GRCm39) |
E138G |
probably damaging |
Het |
| Phactr1 |
T |
C |
13: 42,863,176 (GRCm39) |
|
probably benign |
Het |
| Psmf1 |
A |
G |
2: 151,562,733 (GRCm39) |
|
probably benign |
Het |
| Rab32 |
T |
C |
10: 10,422,199 (GRCm39) |
|
probably benign |
Het |
| Rfwd3 |
C |
T |
8: 111,999,647 (GRCm39) |
|
probably benign |
Het |
| Scart2 |
A |
G |
7: 139,828,913 (GRCm39) |
T191A |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Thoc1 |
A |
G |
18: 9,992,863 (GRCm39) |
D545G |
probably benign |
Het |
| Tpst1 |
T |
A |
5: 130,130,737 (GRCm39) |
M69K |
possibly damaging |
Het |
| Trank1 |
T |
C |
9: 111,196,344 (GRCm39) |
V1456A |
probably benign |
Het |
| Trappc6a |
T |
A |
7: 19,249,144 (GRCm39) |
C124S |
possibly damaging |
Het |
| Tsc22d2 |
T |
A |
3: 58,367,628 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Slc25a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01702:Slc25a3
|
APN |
10 |
90,953,987 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1215:Slc25a3
|
UTSW |
10 |
90,953,170 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4737:Slc25a3
|
UTSW |
10 |
90,958,050 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5418:Slc25a3
|
UTSW |
10 |
90,955,398 (GRCm39) |
missense |
probably benign |
|
|
R5799:Slc25a3
|
UTSW |
10 |
90,957,903 (GRCm39) |
missense |
probably benign |
|
|
R6228:Slc25a3
|
UTSW |
10 |
90,958,090 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6269:Slc25a3
|
UTSW |
10 |
90,952,963 (GRCm39) |
nonsense |
probably null |
|
|
R6414:Slc25a3
|
UTSW |
10 |
90,958,190 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6866:Slc25a3
|
UTSW |
10 |
90,955,567 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7404:Slc25a3
|
UTSW |
10 |
90,952,902 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7633:Slc25a3
|
UTSW |
10 |
90,953,904 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8222:Slc25a3
|
UTSW |
10 |
90,954,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8751:Slc25a3
|
UTSW |
10 |
90,952,960 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1176:Slc25a3
|
UTSW |
10 |
90,959,473 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation