Mutagenetix > Incidental Mutation

Incidental Mutation 'R7120:Sfxn4'

551976

Institutional Source

Beutler Lab

Gene Symbol

Sfxn4

Ensembl Gene

ENSMUSG00000063698

Gene Name

sideroflexin 4

Synonyms

MMRRC Submission

045209-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7120 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60825715-60849917 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 60840477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 173 (K173*)

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 null
Transcript: ENSMUST00000135808
AA Change: K173*

SMART Domains

Protein: ENSMUSP00000118743
Gene: ENSMUSG00000063698
AA Change: K173*

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	A	T	3: 36,536,016 (GRCm39)	Q94L	unknown	Het
4933411K16Rik	C	T	19: 42,041,112 (GRCm39)	A81V	probably benign	Het
Actr3	A	C	1: 125,331,169 (GRCm39)	Y273*	probably null	Het
Aoc1	T	A	6: 48,883,531 (GRCm39)	I469N	probably damaging	Het
Arhgef28	A	T	13: 98,081,047 (GRCm39)	L1270Q	probably damaging	Het
Atp2c1	G	A	9: 105,297,385 (GRCm39)	Q780*	probably null	Het
Bbs10	T	C	10: 111,135,310 (GRCm39)	V141A	possibly damaging	Het
Bivm	A	T	1: 44,165,606 (GRCm39)	T19S	probably benign	Het
Cacna1h	T	G	17: 25,610,481 (GRCm39)	H675P	probably benign	Het
Cadps	T	A	14: 12,439,919 (GRCm38)	L1204F	probably damaging	Het
Cald1	T	C	6: 34,663,011 (GRCm39)		probably null	Het
Calr	A	G	8: 85,569,457 (GRCm39)	M357T	probably damaging	Het
Ccni	A	T	5: 93,331,190 (GRCm39)	Y260*	probably null	Het
Csrnp3	C	A	2: 65,853,354 (GRCm39)	T594K	probably damaging	Het
Dek	A	T	13: 47,253,659 (GRCm39)	M152K	unknown	Het
Depdc1b	T	C	13: 108,498,781 (GRCm39)	W155R	probably benign	Het
Ehd1	A	G	19: 6,347,591 (GRCm39)	K315R	probably benign	Het
Epn3	C	A	11: 94,383,254 (GRCm39)	R323S	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fbxo10	T	A	4: 45,040,533 (GRCm39)	K891*	probably null	Het
Fras1	G	T	5: 96,900,819 (GRCm39)	G3013*	probably null	Het
Gbp2b	A	G	3: 142,312,507 (GRCm39)	T297A	probably benign	Het
Gbp7	T	C	3: 142,249,734 (GRCm39)	S402P	probably damaging	Het
Gclc	T	C	9: 77,694,032 (GRCm39)	Y329H	probably damaging	Het
Gfpt1	A	G	6: 87,064,375 (GRCm39)	H655R	probably benign	Het
Gm4787	C	A	12: 81,425,260 (GRCm39)	M299I	probably benign	Het
Grb7	C	A	11: 98,345,817 (GRCm39)	R532S	probably benign	Het
Hmcn1	A	T	1: 150,576,292 (GRCm39)	I2066N	probably damaging	Het
Hnrnpll	T	C	17: 80,341,486 (GRCm39)	T518A	probably benign	Het
Hps3	G	A	3: 20,065,705 (GRCm39)	R712W	probably damaging	Het
Hspd1	A	G	1: 55,118,388 (GRCm39)	V406A	probably benign	Het
Igkv2-112	T	C	6: 68,197,510 (GRCm39)	F61L	probably benign	Het
Iqcf5	G	A	9: 106,392,995 (GRCm39)	R84H	probably damaging	Het
Itgad	T	A	7: 127,773,146 (GRCm39)	M1K	probably null	Het
Kmt2d	A	G	15: 98,758,946 (GRCm39)	S1292P	unknown	Het
Macc1	C	A	12: 119,409,480 (GRCm39)	Q83K	possibly damaging	Het
Map3k4	G	T	17: 12,490,354 (GRCm39)	A359E	probably damaging	Het
Mfap3	T	A	11: 57,419,043 (GRCm39)	C68S	probably damaging	Het
Mipep	C	T	14: 61,112,696 (GRCm39)	R660C	possibly damaging	Het
Morc2b	A	T	17: 33,354,787 (GRCm39)	L995Q	probably damaging	Het
Mrc1	A	G	2: 14,313,508 (GRCm39)	N913S	probably damaging	Het
N4bp1	C	A	8: 87,587,495 (GRCm39)	C481F	probably benign	Het
Nae1	A	G	8: 105,252,910 (GRCm39)		probably null	Het
Nup214	T	A	2: 31,941,054 (GRCm39)	V29E	probably benign	Het
Or1e30	A	T	11: 73,677,940 (GRCm39)	M59L	probably damaging	Het
Or8c11	T	C	9: 38,289,945 (GRCm39)	L250P	probably damaging	Het
Orai1	A	G	5: 123,167,535 (GRCm39)	E236G	possibly damaging	Het
P2rx7	A	G	5: 122,819,357 (GRCm39)	Y593C	probably benign	Het
Pcbp2	A	G	15: 102,383,113 (GRCm39)	D77G	possibly damaging	Het
Pcdha8	G	A	18: 37,126,840 (GRCm39)	V441M	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Plaa	A	G	4: 94,470,919 (GRCm39)	S406P	possibly damaging	Het
Plekhh1	C	A	12: 79,117,713 (GRCm39)	P903Q	probably benign	Het
Plekhh3	T	C	11: 101,059,064 (GRCm39)	E92G	probably damaging	Het
Ptpn9	T	C	9: 56,967,166 (GRCm39)	F463S	probably damaging	Het
Ptprn2	A	C	12: 116,835,676 (GRCm39)	E337A	probably benign	Het
Rubcn	C	T	16: 32,656,839 (GRCm39)	R527Q	probably damaging	Het
Samd3	C	T	10: 26,106,864 (GRCm39)	T73M	possibly damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,453,579 (GRCm39)		probably benign	Het
Son	T	G	16: 91,467,414 (GRCm39)	N2258K	unknown	Het
Sspo	A	T	6: 48,442,505 (GRCm39)	H2000L	probably benign	Het
Syne1	C	T	10: 5,243,971 (GRCm39)	S2731N	probably benign	Het
Syt6	T	C	3: 103,494,673 (GRCm39)	Y213H	probably damaging	Het
Tkt	A	G	14: 30,281,779 (GRCm39)	N99S	probably benign	Het
Tlcd3b	T	C	7: 126,428,505 (GRCm39)	L221P	probably damaging	Het
Tmem258	G	A	19: 10,181,602 (GRCm39)		probably benign	Het
Tnks1bp1	T	C	2: 84,902,441 (GRCm39)	S1702P	probably damaging	Het
Tpte	A	G	8: 22,817,689 (GRCm39)	D225G	probably damaging	Het
Trak1	T	A	9: 121,289,564 (GRCm39)	F625L	probably benign	Het
Ttc33	G	T	15: 5,241,488 (GRCm39)	C77F	probably benign	Het
Ugt1a2	A	G	1: 88,128,522 (GRCm39)	H55R	probably damaging	Het
Vmn1r169	G	T	7: 23,277,444 (GRCm39)	V279L	probably benign	Het
Vmn2r25	T	C	6: 123,805,394 (GRCm39)	K488E	possibly damaging	Het
Vmn2r8	A	T	5: 108,956,504 (GRCm39)	D39E	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
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
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'- TTCTCAAACCAAAGAGGCCAGG -3'
(R):5'- CCATCTACTCCTGAAATATGCAGAG -3'

Sequencing Primer
(F):5'- GGAAACCCAGCAGGCTACAATG -3'
(R):5'- ATATGCAGAGACTACTTCAGGGTTG -3'

Posted On

2019-05-15