Incidental Mutation 'R1248:Slc25a46'
| ID |
152210 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc25a46
|
| Ensembl Gene |
ENSMUSG00000024259 |
| Gene Name |
solute carrier family 25, member 46 |
| Synonyms |
1200007B05Rik |
| MMRRC Submission |
039315-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1248 (G1)
|
| Quality Score |
213 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
31713217-31743585 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 31742807 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 20
(D20N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060396]
[ENSMUST00000164667]
|
| AlphaFold |
Q9CQS4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060396
AA Change: D20N
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000053325
Gene: ENSMUSG00000024259
AA Change: D20N
| 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 |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000164667
AA Change: P81S
|
| SMART Domains |
Protein: ENSMUSP00000128772
Gene: ENSMUSG00000092124
AA Change: P81S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
64 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1062 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.5%
|
| Validation Efficiency |
98% (43/44) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
A |
T |
10: 10,271,054 (GRCm39) |
F863Y |
probably damaging |
Het |
| Akap12 |
A |
G |
10: 4,303,847 (GRCm39) |
E219G |
probably benign |
Het |
| Akr1c20 |
G |
A |
13: 4,564,399 (GRCm39) |
T38I |
possibly damaging |
Het |
| Ap5z1 |
C |
A |
5: 142,460,255 (GRCm39) |
S511R |
probably benign |
Het |
| Arhgap11a |
T |
A |
2: 113,664,447 (GRCm39) |
H612L |
possibly damaging |
Het |
| Atp2b2 |
G |
T |
6: 113,794,153 (GRCm39) |
S118Y |
probably damaging |
Het |
| Boc |
A |
T |
16: 44,340,836 (GRCm39) |
M38K |
probably benign |
Het |
| Ccdc171 |
A |
T |
4: 83,599,481 (GRCm39) |
E773D |
possibly damaging |
Het |
| Clxn |
A |
G |
16: 14,742,001 (GRCm39) |
M212V |
probably benign |
Het |
| Dmtn |
C |
T |
14: 70,850,098 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,832,887 (GRCm39) |
|
probably benign |
Het |
| Fam83b |
T |
C |
9: 76,410,358 (GRCm39) |
N184S |
probably benign |
Het |
| Fam98c |
A |
G |
7: 28,852,265 (GRCm39) |
M98T |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,143,529 (GRCm39) |
K2867E |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,820,107 (GRCm39) |
E5280V |
possibly damaging |
Het |
| Fuom |
T |
C |
7: 139,679,631 (GRCm39) |
|
probably benign |
Het |
| Gm3476 |
A |
T |
14: 6,118,512 (GRCm38) |
S204T |
probably benign |
Het |
| Grhl3 |
A |
G |
4: 135,288,617 (GRCm39) |
F23L |
probably benign |
Het |
| Il4i1 |
G |
T |
7: 44,489,213 (GRCm39) |
R334L |
probably damaging |
Het |
| Ipo13 |
A |
G |
4: 117,758,228 (GRCm39) |
S712P |
probably damaging |
Het |
| Lama4 |
G |
T |
10: 38,932,843 (GRCm39) |
S573I |
probably damaging |
Het |
| Lrp11 |
A |
G |
10: 7,480,058 (GRCm39) |
H371R |
probably benign |
Het |
| Mkln1 |
T |
A |
6: 31,466,303 (GRCm39) |
I520N |
probably damaging |
Het |
| Nagpa |
G |
T |
16: 5,016,480 (GRCm39) |
C236* |
probably null |
Het |
| Nktr |
A |
G |
9: 121,556,436 (GRCm39) |
N38S |
probably damaging |
Het |
| Nlrp10 |
G |
A |
7: 108,525,088 (GRCm39) |
R131C |
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,231,211 (GRCm39) |
D386G |
possibly damaging |
Het |
| Prpf39 |
T |
A |
12: 65,100,740 (GRCm39) |
|
probably benign |
Het |
| Retreg2 |
A |
G |
1: 75,121,755 (GRCm39) |
|
probably benign |
Het |
| S100a4 |
G |
T |
3: 90,513,084 (GRCm39) |
S60I |
possibly damaging |
Het |
| Slc12a3 |
G |
T |
8: 95,059,905 (GRCm39) |
G184C |
probably damaging |
Het |
| Smc3 |
A |
G |
19: 53,622,509 (GRCm39) |
K695E |
probably benign |
Het |
| Speer2 |
A |
T |
16: 69,653,955 (GRCm39) |
|
probably null |
Het |
| Taar4 |
T |
G |
10: 23,836,936 (GRCm39) |
V182G |
possibly damaging |
Het |
| Ttll1 |
C |
G |
15: 83,386,326 (GRCm39) |
S93T |
probably benign |
Het |
| Ubl3 |
A |
T |
5: 148,443,008 (GRCm39) |
|
probably null |
Het |
| Vmn2r16 |
A |
G |
5: 109,508,643 (GRCm39) |
N457S |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,398,396 (GRCm39) |
E528G |
probably benign |
Het |
| Zfp52 |
A |
C |
17: 21,780,311 (GRCm39) |
E53A |
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 |
|
R1155:Slc25a46
|
UTSW |
18 |
31,716,668 (GRCm39) |
missense |
probably benign |
0.16 |
|
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 |
PCR Primer
(F):5'- AGAGCACAAATCGCGTGCCGAG -3'
(R):5'- AGCCGTGACTTCCGGTTGTCAG -3'
Sequencing Primer
(F):5'- ccgggAAAGGGCTCCTC -3'
(R):5'- GACTTCCGGTTGTCAGTCTCC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation