Mutagenetix > Incidental Mutation

Incidental Mutation 'R3896:Slc25a46'

310563

Institutional Source

Beutler Lab

Gene Symbol

Slc25a46

Ensembl Gene

ENSMUSG00000024259

Gene Name

solute carrier family 25, member 46

Synonyms

1200007B05Rik

MMRRC Submission

040807-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3896 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31713217-31743585 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31716725 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 259 (L259P)

Ref Sequence

ENSEMBL: ENSMUSP00000053325 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060396]

AlphaFold

Q9CQS4

Predicted Effect

probably damaging
Transcript: ENSMUST00000060396
AA Change: L259P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053325
Gene: ENSMUSG00000024259
AA Change: L259P

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

Meta Mutation Damage Score

0.6866

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (48/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503B20Rik	A	T	3: 146,356,868 (GRCm39)	N13K	possibly damaging	Het
Alas1	G	T	9: 106,119,000 (GRCm39)		probably null	Het
Arhgap20	A	T	9: 51,728,137 (GRCm39)	I117F	probably damaging	Het
Asz1	A	G	6: 18,075,766 (GRCm39)	I269T	probably benign	Het
Atp8a2	C	A	14: 60,263,589 (GRCm39)		probably null	Het
Atp8b2	A	T	3: 89,864,626 (GRCm39)	I163K	probably damaging	Het
Casd1	T	A	6: 4,640,980 (GRCm39)	F700L	probably damaging	Het
Ccdc80	A	G	16: 44,916,984 (GRCm39)	D580G	probably benign	Het
Cog7	C	T	7: 121,540,392 (GRCm39)		probably benign	Het
Cyp2c66	T	C	19: 39,130,722 (GRCm39)	V112A	possibly damaging	Het
D130040H23Rik	T	A	8: 69,755,610 (GRCm39)	C356S	probably damaging	Het
Emb	A	G	13: 117,409,598 (GRCm39)	*331W	probably null	Het
Enpp3	A	C	10: 24,653,847 (GRCm39)	S703R	possibly damaging	Het
Fam13b	T	C	18: 34,596,008 (GRCm39)		probably benign	Het
Foxp1	T	A	6: 99,052,897 (GRCm39)	Q97L	probably benign	Het
Gdf10	A	T	14: 33,656,438 (GRCm39)	N467Y	probably damaging	Het
Gm29394	C	T	15: 57,912,024 (GRCm39)		probably benign	Het
Gsn	T	C	2: 35,192,650 (GRCm39)	S522P	possibly damaging	Het
Hydin	T	A	8: 111,235,711 (GRCm39)	F1899I	possibly damaging	Het
Ints1	C	A	5: 139,743,399 (GRCm39)	E1658*	probably null	Het
Jakmip2	A	T	18: 43,682,751 (GRCm39)	F691Y	probably benign	Het
Klhl28	A	G	12: 65,004,333 (GRCm39)	F60S	probably damaging	Het
Loxhd1	C	T	18: 77,469,719 (GRCm39)	S992L	possibly damaging	Het
Lrp1b	A	T	2: 40,812,440 (GRCm39)		probably null	Het
Macf1	A	T	4: 123,364,987 (GRCm39)	I3258N	possibly damaging	Het
Map4k2	G	T	19: 6,391,958 (GRCm39)	E91*	probably null	Het
Matcap1	T	A	8: 106,009,920 (GRCm39)	H343L	probably benign	Het
Myo1b	A	T	1: 51,812,420 (GRCm39)	V739E	probably damaging	Het
Naa35	C	T	13: 59,755,109 (GRCm39)	T185I	probably damaging	Het
Or10v9	T	C	19: 11,832,951 (GRCm39)	D122G	probably damaging	Het
Or4c15b	A	G	2: 89,113,441 (GRCm39)	F33S	possibly damaging	Het
Reg4	A	T	3: 98,132,082 (GRCm39)		probably benign	Het
Rnaseh2b	A	C	14: 62,597,906 (GRCm39)		probably benign	Het
Rnf123	G	A	9: 107,946,302 (GRCm39)		probably benign	Het
Scn8a	A	T	15: 100,933,379 (GRCm39)	M1528L	probably benign	Het
Sdr16c5	T	A	4: 4,006,609 (GRCm39)	T228S	probably damaging	Het
Sgo2a	T	C	1: 58,052,805 (GRCm39)	C202R	probably damaging	Het
Slc4a4	A	G	5: 89,345,625 (GRCm39)		probably benign	Het
Sox14	G	T	9: 99,757,636 (GRCm39)	H34Q	probably damaging	Het
Syna	T	A	5: 134,587,165 (GRCm39)	K595*	probably null	Het
Taf4	A	G	2: 179,573,807 (GRCm39)	V687A	probably benign	Het
Tmbim7	C	T	5: 3,711,916 (GRCm39)	H54Y	probably benign	Het
Vmn1r212	T	C	13: 23,068,067 (GRCm39)	M89V	probably benign	Het
Vmn1r86	T	C	7: 12,836,093 (GRCm39)	Y261C	probably benign	Het
Xkr4	A	G	1: 3,286,414 (GRCm39)	I592T	probably damaging	Het
Ywhah	A	G	5: 33,184,349 (GRCm39)	Y184C	probably damaging	Het
Zkscan16	C	T	4: 58,946,125 (GRCm39)		probably benign	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
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
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'- AGTTCTGGAAAATAGGCATCCAAC -3'
(R):5'- CAGCTGAAGTTGGCAAATCATGG -3'

Sequencing Primer
(F):5'- CAACATATTCTGCATGGGGC -3'
(R):5'- TCTTCTAGAGGACCAGGCTTCAG -3'

Posted On

2015-04-17