Mutagenetix > Incidental Mutation

Incidental Mutation 'R0550:Sfxn4'

45132

Institutional Source

Beutler Lab

Gene Symbol

Sfxn4

Ensembl Gene

ENSMUSG00000063698

Gene Name

sideroflexin 4

Synonyms

MMRRC Submission

038742-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0550 (G1)

Quality Score

210

Status

Validated

Chromosome

Chromosomal Location

60825715-60849917 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 60839383 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

1x: 99.6%
3x: 98.9%
10x: 97.0%
20x: 94.2%

Validation Efficiency

99% (76/77)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,184,666 (GRCm39)	Y947N	probably damaging	Het
Acss3	C	A	10: 106,889,332 (GRCm39)	G163C	probably damaging	Het
Adcy10	A	G	1: 165,392,884 (GRCm39)	T1367A	probably benign	Het
Adcy2	A	T	13: 69,130,480 (GRCm39)	S136T	probably benign	Het
Ahdc1	G	A	4: 132,790,348 (GRCm39)	V530I	probably benign	Het
Aldh16a1	C	T	7: 44,795,653 (GRCm39)		probably null	Het
Ankrd36	T	C	11: 5,557,429 (GRCm39)		probably null	Het
Aqr	A	C	2: 113,963,457 (GRCm39)	N664K	probably damaging	Het
Atp6v1c1	T	C	15: 38,683,173 (GRCm39)		probably benign	Het
Atp8b2	C	T	3: 89,866,368 (GRCm39)		probably benign	Het
Bbx	T	C	16: 50,094,896 (GRCm39)		probably benign	Het
Bmper	T	A	9: 23,285,181 (GRCm39)	D243E	probably benign	Het
Casz1	GCCACCACCACCACCACCACCAC	GCCACCACCACCACCACCAC	4: 149,036,741 (GRCm39)		probably benign	Het
Catsperd	T	C	17: 56,970,427 (GRCm39)		probably null	Het
Ccdc92b	T	A	11: 74,520,771 (GRCm39)		probably null	Het
Cd2bp2	G	T	7: 126,792,996 (GRCm39)	T342K	probably damaging	Het
Clrn3	T	A	7: 135,130,154 (GRCm39)	I27F	possibly damaging	Het
Cnih3	TTGACGAG	T	1: 181,234,042 (GRCm39)		probably null	Het
Cntnap3	T	C	13: 64,909,814 (GRCm39)	T764A	possibly damaging	Het
Cttnbp2	T	G	6: 18,435,308 (GRCm39)	K183N	possibly damaging	Het
Cwc27	G	A	13: 104,941,457 (GRCm39)	P155L	probably damaging	Het
Dcaf10	T	C	4: 45,372,753 (GRCm39)	S389P	probably benign	Het
Ddx18	T	C	1: 121,483,104 (GRCm39)	K561E	probably benign	Het
Dkk3	A	G	7: 111,757,452 (GRCm39)	F51L	probably damaging	Het
Dnai1	C	T	4: 41,596,274 (GRCm39)	R20*	probably null	Het
Dr1	G	A	5: 108,417,471 (GRCm39)	G6S	probably benign	Het
Dync2h1	A	T	9: 7,120,954 (GRCm39)		probably null	Het
Eif3l	A	G	15: 78,961,067 (GRCm39)	Y16C	probably damaging	Het
Epb41	A	G	4: 131,702,924 (GRCm39)	I464T	probably damaging	Het
Erc2	A	G	14: 27,993,608 (GRCm39)	K546E	possibly damaging	Het
F830045P16Rik	T	C	2: 129,305,429 (GRCm39)	D315G	probably damaging	Het
Fads6	A	G	11: 115,187,503 (GRCm39)	I64T	probably benign	Het
Fshr	T	C	17: 89,352,553 (GRCm39)	N107S	probably benign	Het
Gbp11	A	T	5: 105,491,616 (GRCm39)	N60K	probably benign	Het
Gm2a	C	T	11: 54,994,491 (GRCm39)	Q54*	probably null	Het
Hydin	A	G	8: 111,314,407 (GRCm39)	D4297G	probably benign	Het
Il6st	G	A	13: 112,611,648 (GRCm39)		probably null	Het
Inpp4b	T	A	8: 82,723,966 (GRCm39)	H499Q	probably benign	Het
Kif5c	A	G	2: 49,648,924 (GRCm39)	K956R	possibly damaging	Het
Krt74	G	A	15: 101,669,114 (GRCm39)		noncoding transcript	Het
Map3k9	A	T	12: 81,772,555 (GRCm39)	L649Q	probably damaging	Het
Mdn1	A	G	4: 32,730,479 (GRCm39)	D2871G	probably benign	Het
Mylk4	T	C	13: 32,900,649 (GRCm39)	T294A	probably benign	Het
Nbeal2	C	T	9: 110,471,226 (GRCm39)	V252I	probably benign	Het
Nectin3	A	G	16: 46,279,183 (GRCm39)	I265T	possibly damaging	Het
Opn1sw	A	T	6: 29,380,203 (GRCm39)	L71Q	probably damaging	Het
Or4c12	A	G	2: 89,773,733 (GRCm39)	I242T	probably damaging	Het
Or52m1	G	A	7: 102,290,157 (GRCm39)	E235K	possibly damaging	Het
Or5aq6	G	T	2: 86,923,473 (GRCm39)	H89Q	probably benign	Het
Or5b97	A	T	19: 12,879,164 (GRCm39)		probably null	Het
Or5k17	A	G	16: 58,746,748 (GRCm39)	F62S	probably damaging	Het
Or8b46	T	A	9: 38,450,676 (GRCm39)	C162S	probably damaging	Het
Or8k27	A	T	2: 86,276,220 (GRCm39)	Y35*	probably null	Het
Pced1a	G	A	2: 130,261,553 (GRCm39)	P367S	probably benign	Het
Pkhd1	A	T	1: 20,417,447 (GRCm39)	M2568K	probably null	Het
Pla2r1	A	G	2: 60,255,694 (GRCm39)		probably null	Het
Plpp1	T	C	13: 112,971,519 (GRCm39)	I62T	probably benign	Het
Polr3g	G	A	13: 81,842,892 (GRCm39)	T41I	probably damaging	Het
Ptch2	T	C	4: 116,953,630 (GRCm39)		probably benign	Het
Sema4g	A	T	19: 44,986,104 (GRCm39)	H315L	probably benign	Het
Setd1b	G	T	5: 123,295,723 (GRCm39)	S1097I	unknown	Het
Sh3tc1	T	C	5: 35,857,128 (GRCm39)	E1237G	probably damaging	Het
Slc25a38	A	T	9: 119,952,709 (GRCm39)	N287I	probably benign	Het
Slc25a48	A	G	13: 56,596,811 (GRCm39)	T31A	probably benign	Het
Slc6a12	G	A	6: 121,333,877 (GRCm39)	V238I	probably damaging	Het
Slc8b1	A	G	5: 120,669,220 (GRCm39)		probably benign	Het
Slco4c1	A	C	1: 96,795,584 (GRCm39)	V158G	probably damaging	Het
Sptbn4	T	C	7: 27,063,803 (GRCm39)	T2208A	probably benign	Het
Srebf1	G	A	11: 60,092,502 (GRCm39)	T843I	probably benign	Het
Srl	A	G	16: 4,305,429 (GRCm39)	W101R	probably damaging	Het
St6galnac4	T	A	2: 32,484,031 (GRCm39)	C76*	probably null	Het
Tdrd3	C	A	14: 87,723,656 (GRCm39)	T290K	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trpm3	A	G	19: 22,965,176 (GRCm39)	E1547G	probably damaging	Het
Ubn1	A	G	16: 4,880,484 (GRCm39)		probably null	Het
Usp10	T	A	8: 120,674,540 (GRCm39)	I456K	probably damaging	Het
Usp6nl	A	G	2: 6,405,134 (GRCm39)		probably benign	Het
Vit	T	A	17: 78,932,222 (GRCm39)	V443E	possibly damaging	Het
Whamm	G	A	7: 81,235,972 (GRCm39)	V392I	possibly damaging	Het
Zfhx4	A	G	3: 5,465,554 (GRCm39)	K1904R	probably damaging	Het
Zfp352	A	T	4: 90,112,927 (GRCm39)	T356S	probably 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
IGL01965:Sfxn4	APN	19	60,847,182 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GCTGACATGACAGAGAGATGTGGTC -3'
(R):5'- TGCCCATAGCAGGTGAGTATCTGAG -3'

Sequencing Primer
(F):5'- gcacacctttaatcccagcac -3'
(R):5'- GCACCTTCGCACGTTTG -3'

Posted On

2013-06-11