Incidental Mutation 'R1155:Slc25a46'
| ID |
101696 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc25a46
|
| Ensembl Gene |
ENSMUSG00000024259 |
| Gene Name |
solute carrier family 25, member 46 |
| Synonyms |
1200007B05Rik |
| MMRRC Submission |
039228-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1155 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
31713217-31743585 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31716668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 278
(I278T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060396]
|
| AlphaFold |
Q9CQS4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060396
AA Change: I278T
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000053325
Gene: ENSMUSG00000024259
AA Change: I278T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
74 |
95 |
N/A |
INTRINSIC |
|
transmembrane domain
|
268 |
290 |
N/A |
INTRINSIC |
|
Pfam:Mito_carr
|
311 |
417 |
2.7e-12 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial solute carrier protein family member. It functions in promoting mitochondrial fission, and prevents the formation of hyperfilamentous mitochondria. Mutation of this gene results in neuropathy and optic atrophy. [provided by RefSeq, Aug 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
T |
C |
11: 23,467,270 (GRCm39) |
E121G |
possibly damaging |
Het |
| Abtb3 |
A |
T |
10: 85,465,155 (GRCm39) |
H665L |
probably damaging |
Het |
| Adgrg1 |
G |
A |
8: 95,733,468 (GRCm39) |
V307I |
possibly damaging |
Het |
| Cilp |
A |
G |
9: 65,176,869 (GRCm39) |
T42A |
probably benign |
Het |
| Col6a3 |
T |
A |
1: 90,722,047 (GRCm39) |
K1493M |
probably null |
Het |
| Col6a6 |
A |
G |
9: 105,659,289 (GRCm39) |
V552A |
possibly damaging |
Het |
| Cradd |
T |
C |
10: 95,158,586 (GRCm39) |
T54A |
probably benign |
Het |
| Elfn2 |
A |
G |
15: 78,557,344 (GRCm39) |
I401T |
probably benign |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Hoxc6 |
A |
G |
15: 102,919,279 (GRCm39) |
I172V |
probably damaging |
Het |
| Knl1 |
T |
C |
2: 118,901,635 (GRCm39) |
L1112P |
possibly damaging |
Het |
| Lipo4 |
T |
A |
19: 33,480,595 (GRCm39) |
I258F |
probably benign |
Het |
| Morf4l1 |
A |
G |
9: 89,976,557 (GRCm39) |
V257A |
probably benign |
Het |
| Or51a8 |
A |
T |
7: 102,549,819 (GRCm39) |
M82L |
probably benign |
Het |
| Rnpepl1 |
T |
A |
1: 92,844,609 (GRCm39) |
M367K |
probably damaging |
Het |
| Robo2 |
A |
G |
16: 73,831,996 (GRCm39) |
L228P |
probably damaging |
Het |
| Samd9l |
T |
A |
6: 3,376,939 (GRCm39) |
E107D |
probably benign |
Het |
| Shc1 |
A |
G |
3: 89,332,126 (GRCm39) |
I194V |
probably benign |
Het |
| Tmem178 |
T |
A |
17: 81,308,429 (GRCm39) |
C275S |
possibly damaging |
Het |
| Tpsg1 |
A |
T |
17: 25,592,768 (GRCm39) |
Q40L |
possibly damaging |
Het |
| Trank1 |
A |
G |
9: 111,196,038 (GRCm39) |
E1354G |
possibly damaging |
Het |
| Vit |
T |
C |
17: 78,873,456 (GRCm39) |
I44T |
probably damaging |
Het |
| Vstm5 |
T |
C |
9: 15,168,849 (GRCm39) |
S138P |
probably damaging |
Het |
|
| Other mutations in Slc25a46 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02272:Slc25a46
|
APN |
18 |
31,716,621 (GRCm39) |
missense |
probably benign |
|
|
IGL02724:Slc25a46
|
APN |
18 |
31,738,868 (GRCm39) |
unclassified |
probably benign |
|
|
LCD18:Slc25a46
|
UTSW |
18 |
31,730,366 (GRCm39) |
intron |
probably benign |
|
|
R0375:Slc25a46
|
UTSW |
18 |
31,716,319 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0675:Slc25a46
|
UTSW |
18 |
31,742,641 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1248:Slc25a46
|
UTSW |
18 |
31,742,807 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1619:Slc25a46
|
UTSW |
18 |
31,716,542 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1761:Slc25a46
|
UTSW |
18 |
31,740,315 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1803:Slc25a46
|
UTSW |
18 |
31,727,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1954:Slc25a46
|
UTSW |
18 |
31,733,294 (GRCm39) |
splice site |
probably null |
|
|
R2013:Slc25a46
|
UTSW |
18 |
31,742,778 (GRCm39) |
missense |
probably benign |
|
|
R2015:Slc25a46
|
UTSW |
18 |
31,742,778 (GRCm39) |
missense |
probably benign |
|
|
R2519:Slc25a46
|
UTSW |
18 |
31,735,814 (GRCm39) |
missense |
probably benign |
|
|
R3896:Slc25a46
|
UTSW |
18 |
31,716,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4423:Slc25a46
|
UTSW |
18 |
31,742,651 (GRCm39) |
missense |
probably benign |
|
|
R4647:Slc25a46
|
UTSW |
18 |
31,733,245 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4948:Slc25a46
|
UTSW |
18 |
31,716,336 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4959:Slc25a46
|
UTSW |
18 |
31,735,807 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5017:Slc25a46
|
UTSW |
18 |
31,738,836 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5654:Slc25a46
|
UTSW |
18 |
31,716,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7983:Slc25a46
|
UTSW |
18 |
31,716,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9027:Slc25a46
|
UTSW |
18 |
31,716,432 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Slc25a46
|
UTSW |
18 |
31,742,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation