Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01965:Sfxn4'

182514

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sfxn4

Ensembl Gene

ENSMUSG00000063698

Gene Name

sideroflexin 4

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01965

Quality Score

Status

Chromosome

Chromosomal Location

60825715-60849917 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 60847182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080806] [ENSMUST00000124921] [ENSMUST00000135808]

AlphaFold

Q925N1

Predicted Effect

probably benign
Transcript: ENSMUST00000080806

Predicted Effect

probably benign
Transcript: ENSMUST00000124921

Predicted Effect

probably benign
Transcript: ENSMUST00000135808

SMART Domains

Protein: ENSMUSP00000118743
Gene: ENSMUSG00000063698

Domain	Start	End	E-Value	Type
Pfam:Mtc	11	313	2.1e-67	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sideroflexin family. The encoded protein is a transmembrane protein of the inner mitochondrial membrane, and is required for mitochondrial respiratory homeostasis and erythropoiesis. Mutations in this gene are associated with mitochondriopathy and macrocytic anemia. Alternatively spliced transcript variants have been found in this gene. [provided by RefSeq, Jan 2014]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411G06Rik	T	A	10: 51,633,078 (GRCm39)		noncoding transcript	Het
Adm	C	T	7: 110,227,832 (GRCm39)	L67F	probably benign	Het
Bcl10	C	T	3: 145,638,939 (GRCm39)	R194*	probably null	Het
Brat1	T	C	5: 140,703,811 (GRCm39)	V688A	probably benign	Het
Cep57	T	A	9: 13,732,816 (GRCm39)		probably benign	Het
Dhx57	G	A	17: 80,576,279 (GRCm39)	R604W	probably damaging	Het
Fndc3a	A	G	14: 72,777,842 (GRCm39)	I1121T	probably benign	Het
Fry	A	G	5: 150,305,086 (GRCm39)	E597G	probably damaging	Het
Gabra2	A	G	5: 71,165,418 (GRCm39)		probably benign	Het
Golgb1	A	G	16: 36,738,282 (GRCm39)	D2207G	probably damaging	Het
Htr4	T	A	18: 62,570,740 (GRCm39)	M265K	probably damaging	Het
Igf2r	C	T	17: 12,923,225 (GRCm39)	V1195M	probably benign	Het
Itga2	C	A	13: 114,984,600 (GRCm39)		probably benign	Het
Itih3	T	C	14: 30,637,677 (GRCm39)	H494R	probably damaging	Het
Itpkb	C	A	1: 180,159,970 (GRCm39)	T32K	probably damaging	Het
Kif16b	A	T	2: 142,690,325 (GRCm39)	D252E	probably damaging	Het
Klhl33	A	G	14: 51,129,187 (GRCm39)	Y681H	probably damaging	Het
Lats1	T	A	10: 7,577,470 (GRCm39)	V198E	probably benign	Het
Me3	A	G	7: 89,500,951 (GRCm39)	D554G	probably benign	Het
Mindy4	C	T	6: 55,237,517 (GRCm39)		probably benign	Het
Nipa2	G	A	7: 55,594,371 (GRCm39)		probably benign	Het
Or4c116	G	A	2: 88,942,535 (GRCm39)	T107I	probably benign	Het
Or52r1	T	C	7: 102,536,814 (GRCm39)	E182G	probably damaging	Het
Or5d14	A	G	2: 87,880,780 (GRCm39)	F63L	probably benign	Het
Or8b51	A	T	9: 38,568,918 (GRCm39)	F257I	probably benign	Het
Ptgis	A	T	2: 167,050,173 (GRCm39)	W319R	probably benign	Het
Pygl	C	T	12: 70,237,888 (GRCm39)	A717T	probably benign	Het
Rbbp8	A	T	18: 11,855,317 (GRCm39)	K514I	probably benign	Het
Scn9a	A	T	2: 66,314,777 (GRCm39)	L1636H	probably damaging	Het
Serpina3j	A	G	12: 104,281,063 (GRCm39)	T79A	probably benign	Het
Shc2	T	A	10: 79,463,023 (GRCm39)		probably benign	Het
Sim2	A	T	16: 93,922,037 (GRCm39)	Y294F	probably benign	Het
Tep1	A	G	14: 51,100,952 (GRCm39)		probably benign	Het
Ubr1	A	G	2: 120,705,879 (GRCm39)	L1528P	probably damaging	Het
Usp53	A	G	3: 122,754,802 (GRCm39)		probably null	Het
Vmn2r87	G	T	10: 130,314,924 (GRCm39)	L221I	possibly damaging	Het

Other mutations in Sfxn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01141:Sfxn4	APN	19	60,839,452 (GRCm39)	missense	possibly damaging	0.91
IGL01567:Sfxn4	APN	19	60,842,336 (GRCm39)	missense	probably damaging	1.00
IGL01829:Sfxn4	APN	19	60,847,172 (GRCm39)	missense	probably damaging	1.00
IGL01903:Sfxn4	APN	19	60,847,118 (GRCm39)	missense	probably damaging	0.99
IGL03290:Sfxn4	APN	19	60,848,508 (GRCm39)	missense	probably damaging	1.00
R0346:Sfxn4	UTSW	19	60,847,111 (GRCm39)	missense	probably benign	0.01
R0550:Sfxn4	UTSW	19	60,839,383 (GRCm39)	splice site	probably benign
R2228:Sfxn4	UTSW	19	60,839,458 (GRCm39)	missense	probably damaging	1.00
R2229:Sfxn4	UTSW	19	60,839,458 (GRCm39)	missense	probably damaging	1.00
R3949:Sfxn4	UTSW	19	60,840,501 (GRCm39)	missense	probably damaging	1.00
R5074:Sfxn4	UTSW	19	60,839,450 (GRCm39)	missense	probably damaging	1.00
R6534:Sfxn4	UTSW	19	60,827,461 (GRCm39)	missense	probably damaging	1.00
R7120:Sfxn4	UTSW	19	60,840,477 (GRCm39)	nonsense	probably null
R7375:Sfxn4	UTSW	19	60,847,112 (GRCm39)	missense	probably benign	0.38
R7438:Sfxn4	UTSW	19	60,845,799 (GRCm39)	missense	probably damaging	0.99
R7440:Sfxn4	UTSW	19	60,830,642 (GRCm39)	missense	possibly damaging	0.92
R7479:Sfxn4	UTSW	19	60,847,112 (GRCm39)	missense	possibly damaging	0.74
R7577:Sfxn4	UTSW	19	60,842,324 (GRCm39)	missense	probably benign	0.21
R7883:Sfxn4	UTSW	19	60,847,187 (GRCm39)	splice site	probably null
R8058:Sfxn4	UTSW	19	60,832,690 (GRCm39)	missense	probably damaging	0.99
R9335:Sfxn4	UTSW	19	60,839,494 (GRCm39)	missense	probably damaging	1.00
R9523:Sfxn4	UTSW	19	60,845,807 (GRCm39)	missense	probably damaging	0.97

Posted On

2014-05-07