Mutagenetix > Incidental Mutation

Incidental Mutation 'R1761:Slc25a46'

192816

Institutional Source

Beutler Lab

Gene Symbol

Slc25a46

Ensembl Gene

ENSMUSG00000024259

Gene Name

solute carrier family 25, member 46

Synonyms

1200007B05Rik

MMRRC Submission

039793-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1761 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31713217-31743585 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 31740315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 96 (Q96K)

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: Q96K

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000053325
Gene: ENSMUSG00000024259
AA Change: Q96K

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

probably benign
Transcript: ENSMUST00000164667

SMART Domains

Protein: ENSMUSP00000128772
Gene: ENSMUSG00000092124

Domain	Start	End	E-Value	Type
low complexity region	10	28	N/A	INTRINSIC
low complexity region	43	64	N/A	INTRINSIC

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,488,672 (GRCm39)	H1268Y	possibly damaging	Het
Acan	T	A	7: 78,743,833 (GRCm39)	Y621*	probably null	Het
Aig1	T	C	10: 13,566,328 (GRCm39)	Y152C	probably damaging	Het
Arhgap33	C	T	7: 30,232,488 (GRCm39)		probably null	Het
Bcl6	G	T	16: 23,796,292 (GRCm39)	A45D	probably damaging	Het
Cbx5	T	C	15: 103,121,607 (GRCm39)	D10G	possibly damaging	Het
Ccdc191	A	G	16: 43,763,873 (GRCm39)	I445V	probably benign	Het
Cdk4	T	A	10: 126,900,546 (GRCm39)		probably benign	Het
Chil6	A	G	3: 106,301,654 (GRCm39)	F149L	probably damaging	Het
Cntn5	T	C	9: 10,172,059 (GRCm39)	T42A	probably benign	Het
Cpn2	A	T	16: 30,079,014 (GRCm39)	I229N	probably damaging	Het
Cpne8	A	G	15: 90,532,821 (GRCm39)	V62A	probably damaging	Het
Cr2	A	G	1: 194,837,431 (GRCm39)		probably null	Het
Crnn	A	T	3: 93,055,958 (GRCm39)	H248L	probably benign	Het
Csn1s1	A	G	5: 87,826,894 (GRCm39)	S254G	probably benign	Het
Cubn	A	G	2: 13,494,128 (GRCm39)		probably null	Het
Dnah8	A	G	17: 30,998,890 (GRCm39)	N3525S	probably damaging	Het
Dpp3	A	G	19: 4,971,177 (GRCm39)	L220P	probably benign	Het
Fam110a	T	C	2: 151,812,125 (GRCm39)	E215G	probably benign	Het
Fam20a	A	T	11: 109,568,664 (GRCm39)	N287K	probably damaging	Het
Fat4	T	C	3: 38,941,638 (GRCm39)	V177A	possibly damaging	Het
Fzd8	C	T	18: 9,213,643 (GRCm39)	R242C	probably damaging	Het
Gimap5	A	T	6: 48,730,195 (GRCm39)	Q255L	probably damaging	Het
Gm4787	A	G	12: 81,423,950 (GRCm39)	L736S	probably benign	Het
Gmeb1	G	A	4: 131,962,198 (GRCm39)	Q154*	probably null	Het
Gpr156	T	C	16: 37,807,929 (GRCm39)	L192P	probably damaging	Het
Gpr179	A	C	11: 97,225,932 (GRCm39)	S2074R	probably benign	Het
Hddc2	G	T	10: 31,202,135 (GRCm39)	D161Y	probably damaging	Het
Hlcs	T	C	16: 94,068,866 (GRCm39)	D265G	probably benign	Het
Hspg2	A	T	4: 137,241,984 (GRCm39)	I573F	possibly damaging	Het
Il1b	T	C	2: 129,207,101 (GRCm39)	K220E	probably damaging	Het
Il5	T	C	11: 53,614,557 (GRCm39)	I66T	probably damaging	Het
Irf6	G	A	1: 192,851,609 (GRCm39)	R400H	probably damaging	Het
Klra1	A	T	6: 130,349,836 (GRCm39)	Y201N	probably damaging	Het
Lmf2	A	G	15: 89,236,916 (GRCm39)	V442A	possibly damaging	Het
Mcm2	T	C	6: 88,866,770 (GRCm39)	I412M	possibly damaging	Het
Mlkl	T	A	8: 112,060,355 (GRCm39)	L18F	possibly damaging	Het
Mug2	C	A	6: 122,051,664 (GRCm39)	H949N	probably benign	Het
Nf1	T	C	11: 79,275,091 (GRCm39)	F51L	probably damaging	Het
Or52j3	T	G	7: 102,836,325 (GRCm39)	C172W	probably damaging	Het
Or7d10	A	T	9: 19,832,445 (GRCm39)	*313C	probably null	Het
Or8k18	T	G	2: 86,085,383 (GRCm39)	Y218S	probably damaging	Het
P3h2	T	C	16: 25,803,800 (GRCm39)	E322G	probably damaging	Het
Pramel21	T	C	4: 143,342,438 (GRCm39)	Y182H	probably benign	Het
Psmg2	CTTCAGTT	CTTCAGTTCAGTT	18: 67,779,095 (GRCm39)		probably null	Het
Ptdss1	T	C	13: 67,104,476 (GRCm39)	V116A	possibly damaging	Het
Ranbp2	T	C	10: 58,321,563 (GRCm39)	V2620A	probably benign	Het
Robo2	A	G	16: 73,831,912 (GRCm39)	V256A	probably damaging	Het
Scg3	T	A	9: 75,584,040 (GRCm39)	I154F	probably damaging	Het
Scgn	A	T	13: 24,143,689 (GRCm39)	F225Y	probably damaging	Het
Sec61b	T	C	4: 47,480,137 (GRCm39)	C58R	possibly damaging	Het
Spmip6	G	A	4: 41,507,223 (GRCm39)	P109L	probably damaging	Het
Sptb	A	G	12: 76,659,382 (GRCm39)	F1173L	probably damaging	Het
Srcap	T	A	7: 127,134,017 (GRCm39)	C893S	probably damaging	Het
Tet3	T	C	6: 83,380,641 (GRCm39)	E509G	probably damaging	Het
Timm10b	C	T	7: 105,332,915 (GRCm39)	R897*	probably null	Het
Tln2	C	T	9: 67,193,796 (GRCm39)	A1773T	probably benign	Het
Tom1	T	C	8: 75,778,179 (GRCm39)	V87A	probably benign	Het
Tti1	T	C	2: 157,849,617 (GRCm39)	I541V	probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tubb1	A	G	2: 174,298,689 (GRCm39)	S124G	probably benign	Het
Vgll3	A	T	16: 65,636,614 (GRCm39)	D310V	probably damaging	Het
Vmac	A	G	17: 57,022,788 (GRCm39)	L74P	probably damaging	Het
Zbtb1	A	T	12: 76,432,595 (GRCm39)	K194*	probably null	Het
Zfp429	A	G	13: 67,544,195 (GRCm39)	M76T	probably benign	Het
Zfp808	T	A	13: 62,319,460 (GRCm39)	C230S	possibly damaging	Het
Zfp980	A	G	4: 145,428,612 (GRCm39)	Y447C	probably damaging	Het
Zfp985	A	G	4: 147,668,502 (GRCm39)	T457A	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
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'- TGGATACCACTGCCAGGTTTAGGG -3'
(R):5'- TGCCATGTGCTCAACCAGAGTC -3'

Sequencing Primer
(F):5'- CTATCCCTCTGAGAAGGAGGATTAC -3'
(R):5'- GTGCTCAACCAGAGTCATTCAC -3'

Posted On

2014-05-23