Mutagenetix > Incidental Mutation

Incidental Mutation 'R7375:Sfxn4'

572358

Institutional Source

Beutler Lab

Gene Symbol

Sfxn4

Ensembl Gene

ENSMUSG00000063698

Gene Name

sideroflexin 4

Synonyms

MMRRC Submission

045458-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7375 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60825715-60849917 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60847112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 57 (D57G)

Ref Sequence

ENSEMBL: ENSMUSP00000118743 (fasta)

Gene Model

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

AlphaFold

Q925N1

Predicted Effect

probably benign
Transcript: ENSMUST00000080806
AA Change: D57G

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124921
AA Change: D57G

PolyPhen 2 Score 0.591 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000135808
AA Change: D57G

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118743
Gene: ENSMUSG00000063698
AA Change: D57G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	G	5: 8,968,671 (GRCm39)	I337V	probably benign	Het
Abl2	A	G	1: 156,450,184 (GRCm39)	D117G	probably damaging	Het
Arhgap5	T	A	12: 52,563,365 (GRCm39)	L112*	probably null	Het
Brinp3	C	G	1: 146,777,748 (GRCm39)	L732V	possibly damaging	Het
Ccdc168	A	T	1: 44,099,694 (GRCm39)	I468N	possibly damaging	Het
Cfap91	T	A	16: 38,155,980 (GRCm39)	H81L	probably damaging	Het
Cmya5	T	G	13: 93,228,169 (GRCm39)	K2306N	probably damaging	Het
Col16a1	A	C	4: 129,959,294 (GRCm39)	K680T	unknown	Het
Col28a1	T	A	6: 7,998,499 (GRCm39)	T1137S	possibly damaging	Het
Crnn	A	T	3: 93,056,452 (GRCm39)	T413S	possibly damaging	Het
Csf1	A	G	3: 107,655,495 (GRCm39)	L512P	possibly damaging	Het
Dlx3	C	A	11: 95,011,461 (GRCm39)	A105D	possibly damaging	Het
Dnah3	T	G	7: 119,550,900 (GRCm39)	T161P	probably damaging	Het
Dnah7b	A	G	1: 46,342,794 (GRCm39)	D3435G	probably damaging	Het
Dpp10	A	G	1: 123,295,524 (GRCm39)	I541T	probably benign	Het
Efcc1	T	C	6: 87,728,838 (GRCm39)	V431A	possibly damaging	Het
Enpp5	T	C	17: 44,391,868 (GRCm39)	I99T	probably benign	Het
Gm11232	C	T	4: 71,675,583 (GRCm39)	W59*	probably null	Het
Gxylt2	A	T	6: 100,727,383 (GRCm39)	T166S	probably benign	Het
Herc6	A	T	6: 57,628,791 (GRCm39)		probably null	Het
Itga2	T	C	13: 115,005,753 (GRCm39)	I476V	probably benign	Het
Kcnq5	T	C	1: 21,539,710 (GRCm39)	T403A	possibly damaging	Het
Klhl42	A	G	6: 146,993,538 (GRCm39)	K170R	probably benign	Het
Klk13	T	C	7: 43,370,582 (GRCm39)		probably null	Het
Krt32	G	T	11: 99,972,050 (GRCm39)	R433S	probably benign	Het
Lrp1	G	T	10: 127,375,217 (GRCm39)	T4461N	probably damaging	Het
Mapk10	A	T	5: 103,124,256 (GRCm39)	M256K	probably null	Het
Mogat2	T	C	7: 98,872,905 (GRCm39)	K93R	probably damaging	Het
Myh1	G	T	11: 67,101,254 (GRCm39)	V677L	probably damaging	Het
Naip5	G	T	13: 100,356,205 (GRCm39)	Q1137K	not run	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Oog4	G	A	4: 143,165,544 (GRCm39)	T201M	possibly damaging	Het
Or4a70	C	T	2: 89,324,036 (GRCm39)	G207R	possibly damaging	Het
Pik3c2a	T	C	7: 115,975,621 (GRCm39)	T649A	probably damaging	Het
Plec	T	A	15: 76,061,555 (GRCm39)	H2794L	possibly damaging	Het
Pros1	T	A	16: 62,744,913 (GRCm39)	N509K	probably damaging	Het
Psme3ip1	G	A	8: 95,309,636 (GRCm39)	L119F	probably benign	Het
Psme4	T	A	11: 30,722,700 (GRCm39)		probably null	Het
Ptprf	A	G	4: 118,070,011 (GRCm39)	V1457A	probably benign	Het
Rad50	A	G	11: 53,543,055 (GRCm39)		probably null	Het
Rfx5	C	T	3: 94,866,053 (GRCm39)	P451S	unknown	Het
Scpppq1	G	T	5: 104,219,123 (GRCm39)		probably null	Het
Sdk1	G	T	5: 141,984,598 (GRCm39)	V728L	probably benign	Het
Slc10a4	A	G	5: 73,169,650 (GRCm39)	D425G	probably benign	Het
Slc17a5	C	T	9: 78,495,174 (GRCm39)	A26T	probably benign	Het
Slc22a26	A	T	19: 7,760,509 (GRCm39)		probably null	Het
Slc22a30	A	G	19: 8,382,055 (GRCm39)	L72P	probably damaging	Het
Slco6c1	T	C	1: 97,009,146 (GRCm39)	T447A	possibly damaging	Het
Slco6d1	A	G	1: 98,349,172 (GRCm39)	N81S	probably damaging	Het
Stard9	T	C	2: 120,495,483 (GRCm39)		probably null	Het
Tecpr1	T	C	5: 144,145,417 (GRCm39)	E610G	possibly damaging	Het
Tmem81	G	T	1: 132,435,301 (GRCm39)	V36L	possibly damaging	Het
Trabd2b	G	T	4: 114,467,194 (GRCm39)	K474N	probably benign	Het
Tspan33	T	C	6: 29,713,519 (GRCm39)	F149L	probably benign	Het
Ttn	A	G	2: 76,606,683 (GRCm39)	Y18076H	probably damaging	Het
Utrn	G	A	10: 12,516,764 (GRCm39)	R2277C	probably damaging	Het
Vmn2r101	T	A	17: 19,831,652 (GRCm39)	D549E	probably damaging	Het
Vmn2r107	T	A	17: 20,576,138 (GRCm39)	I156K	probably benign	Het
Wwc2	T	G	8: 48,316,955 (GRCm39)	S713R	unknown	Het
Xndc1	C	A	7: 101,730,687 (GRCm39)		probably null	Het
Zfp810	A	G	9: 22,201,833 (GRCm39)		probably null	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
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
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'- ACTGCTCTAGCTGCATTATGAG -3'
(R):5'- AACTGAAGTGCTGTGTGCTG -3'

Sequencing Primer
(F):5'- CCCTGGGCAATATGTACA -3'
(R):5'- CTGGGATTTGAACTCAGGACC -3'

Posted On

2019-09-13