Mutagenetix > Incidental Mutations

Incidental Mutation 'R5176:Steap3'

399242

Institutional Source

Beutler Lab

Gene Symbol

Steap3

Ensembl Gene

ENSMUSG00000026389

Gene Name

STEAP family member 3

Synonyms

pHyde, 1010001D01Rik

MMRRC Submission

042756-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5176 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120190757-120272705 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 120243767 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112639] [ENSMUST00000112640] [ENSMUST00000112641] [ENSMUST00000112643] [ENSMUST00000140490]

Predicted Effect

probably null
Transcript: ENSMUST00000112639

SMART Domains

Protein: ENSMUSP00000108258
Gene: ENSMUSG00000026389

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	30	117	5.7e-19	PFAM
Pfam:Ferric_reduct	259	407	1.2e-19	PFAM
transmembrane domain	432	454	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000112640

SMART Domains

Protein: ENSMUSP00000108259
Gene: ENSMUSG00000026389

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	30	117	5.7e-19	PFAM
Pfam:Ferric_reduct	259	407	1.2e-19	PFAM
transmembrane domain	432	454	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000112641

SMART Domains

Protein: ENSMUSP00000108260
Gene: ENSMUSG00000026389

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	30	117	5.7e-19	PFAM
Pfam:Ferric_reduct	259	407	1.2e-19	PFAM
transmembrane domain	432	454	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000112643

SMART Domains

Protein: ENSMUSP00000108262
Gene: ENSMUSG00000026389

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	68	155	7.3e-19	PFAM
Pfam:Ferric_reduct	297	445	7.9e-15	PFAM
transmembrane domain	470	492	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000140490

SMART Domains

Protein: ENSMUSP00000121046
Gene: ENSMUSG00000026389

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	30	117	1.6e-18	PFAM
Pfam:Ferric_reduct	259	406	3.6e-20	PFAM

Meta Mutation Damage Score

0.9495

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

99% (69/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multipass membrane protein that functions as an iron transporter. The encoded protein can reduce both iron (Fe3+) and copper (Cu2+) cations. This protein may mediate downstream responses to p53, including promoting apoptosis. Deficiency in this gene can cause anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous inactivation of this gene results in microcytic anemia, increased erythrocyte cell number, abnormal reticulocyte morphology, anisopoikilocytosis, decreased mean corpuscular hemoglobin, decreased mean corpuscular volume, and thrombocytosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530032D15Rik	C	T	1: 85,088,800		probably benign	Het
Abca7	C	A	10: 79,998,289	H116Q	probably benign	Het
Akap12	G	T	10: 4,353,947	E252D	probably benign	Het
Apobr	A	G	7: 126,585,016	D2G	probably damaging	Het
Arhgef12	A	T	9: 43,020,686	H168Q	probably damaging	Het
Asb3	T	A	11: 31,081,357		probably null	Het
Brip1	T	C	11: 86,077,884	Y825C	probably damaging	Het
Cacna1b	A	T	2: 24,635,131	Y1679N	probably damaging	Het
Ccdc69	C	T	11: 55,060,470	A42T	probably benign	Het
Cds1	G	T	5: 101,781,420	D55Y	possibly damaging	Het
Cep135	C	A	5: 76,637,026	D989E	probably benign	Het
Cpsf6	C	A	10: 117,361,284		probably benign	Het
Ctif	C	T	18: 75,637,219	V32M	probably damaging	Het
Cylc2	T	C	4: 51,228,587		probably benign	Het
Dao	T	C	5: 114,020,009		probably null	Het
Dopey1	T	A	9: 86,521,815	N1689K	probably damaging	Het
Dopey2	A	G	16: 93,740,043	Y14C	probably damaging	Het
E130309D02Rik	G	T	5: 143,315,075	S7*	probably null	Het
Fam160b1	A	G	19: 57,371,181	N51S	probably damaging	Het
Fam187a	C	T	11: 102,886,464	R365C	probably damaging	Het
Fastkd2	A	G	1: 63,731,439		probably benign	Het
Fkbp15	G	T	4: 62,312,323	L718I	possibly damaging	Het
Gabbr2	C	A	4: 46,681,208	V118F	probably damaging	Het
Gm11492	T	A	11: 87,567,532	M244K	probably benign	Het
Gm13991	T	A	2: 116,528,027		noncoding transcript	Het
H2-M9	T	C	17: 36,641,631	I174M	probably damaging	Het
Insr	T	A	8: 3,158,742	M1240L	probably benign	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Mad2l1bp	T	A	17: 46,152,812	E95D	probably benign	Het
March9	T	C	10: 127,059,450	D102G	probably benign	Het
Muc19	A	G	15: 91,892,180		noncoding transcript	Het
Nr1h4	T	A	10: 89,498,255	Y91F	probably benign	Het
Nr5a2	A	T	1: 136,948,802	M1K	probably null	Het
Olfr561	T	A	7: 102,775,306	S261T	probably damaging	Het
Olfr836	A	T	9: 19,121,360	Y132F	probably damaging	Het
Olfr998	A	C	2: 85,591,435	K298N	possibly damaging	Het
Oprd1	T	C	4: 132,113,793	T285A	probably benign	Het
Optc	T	C	1: 133,902,084	N196S	probably benign	Het
Panx2	G	T	15: 89,060,228	R52L	probably damaging	Het
Pdzd8	A	G	19: 59,344,957	F211L	probably damaging	Het
Pot1b	T	A	17: 55,699,995	T41S	probably benign	Het
Prss56	T	C	1: 87,184,158	L37S	probably damaging	Het
Ptk2b	T	C	14: 66,156,415	T870A	probably damaging	Het
Rabep2	C	A	7: 126,434,293		probably benign	Het
Rbm48	A	C	5: 3,595,444	V80G	probably damaging	Het
Rhou	G	T	8: 123,654,109	C55F	possibly damaging	Het
Rnaseh2c	A	G	19: 5,602,042	D45G	probably benign	Het
Rusc1	A	G	3: 89,089,082	S109P	probably damaging	Het
Ryr3	T	C	2: 112,757,667	D2643G	possibly damaging	Het
Sik2	T	C	9: 50,899,403	E471G	probably benign	Het
Sipa1	A	G	19: 5,659,378	S310P	probably damaging	Het
Spen	T	C	4: 141,476,276	E1680G	unknown	Het
Tmeff2	T	A	1: 51,071,541	C171*	probably null	Het
Tmem138	A	T	19: 10,575,270	M33K	probably benign	Het
Trappc11	C	A	8: 47,510,963	V601L	possibly damaging	Het
Ttc30a2	T	C	2: 75,977,077	M364V	probably benign	Het
Ttll4	C	A	1: 74,679,286	H99N	probably damaging	Het
Uchl4	A	T	9: 64,235,740	K168*	probably null	Het
Wdr17	C	T	8: 54,653,878		probably null	Het
Xpo1	A	G	11: 23,295,977	D1029G	probably damaging	Het
Zfp719	G	T	7: 43,591,125	K712N	probably damaging	Het

Other mutations in Steap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01898:Steap3	APN	1	120241574	missense	probably benign	0.02
IGL02307:Steap3	APN	1	120241660	nonsense	probably null
IGL02413:Steap3	APN	1	120241772	missense	probably damaging	0.99
IGL03237:Steap3	APN	1	120243790	missense	probably damaging	1.00
R0076:Steap3	UTSW	1	120227730	missense	probably damaging	1.00
R0157:Steap3	UTSW	1	120227649	makesense	probably null
R0468:Steap3	UTSW	1	120234300	missense	probably damaging	1.00
R0507:Steap3	UTSW	1	120241583	missense	possibly damaging	0.78
R0727:Steap3	UTSW	1	120227817	missense	possibly damaging	0.91
R0742:Steap3	UTSW	1	120241583	missense	possibly damaging	0.78
R1439:Steap3	UTSW	1	120227820	missense	probably damaging	1.00
R1728:Steap3	UTSW	1	120227750	missense	probably benign	0.00
R1728:Steap3	UTSW	1	120234378	missense	probably benign
R1729:Steap3	UTSW	1	120227750	missense	probably benign	0.00
R1729:Steap3	UTSW	1	120234378	missense	probably benign
R1730:Steap3	UTSW	1	120227750	missense	probably benign	0.00
R1730:Steap3	UTSW	1	120234378	missense	probably benign
R1739:Steap3	UTSW	1	120227750	missense	probably benign	0.00
R1739:Steap3	UTSW	1	120234378	missense	probably benign
R1762:Steap3	UTSW	1	120227750	missense	probably benign	0.00
R1762:Steap3	UTSW	1	120234378	missense	probably benign
R1783:Steap3	UTSW	1	120227750	missense	probably benign	0.00
R1783:Steap3	UTSW	1	120234378	missense	probably benign
R1785:Steap3	UTSW	1	120227750	missense	probably benign	0.00
R1785:Steap3	UTSW	1	120234378	missense	probably benign
R1902:Steap3	UTSW	1	120241734	missense	probably benign
R3827:Steap3	UTSW	1	120227730	missense	probably damaging	1.00
R4574:Steap3	UTSW	1	120241456	missense	probably benign	0.00
R4805:Steap3	UTSW	1	120243886	missense	probably benign	0.04
R5285:Steap3	UTSW	1	120241880	missense	probably damaging	0.98
R5481:Steap3	UTSW	1	120241724	missense	probably benign
R5906:Steap3	UTSW	1	120244001	missense	probably damaging	1.00
R6038:Steap3	UTSW	1	120241641	missense	probably damaging	1.00
R6038:Steap3	UTSW	1	120241641	missense	probably damaging	1.00
R6922:Steap3	UTSW	1	120243894	missense	probably damaging	1.00
R7258:Steap3	UTSW	1	120243986	missense	possibly damaging	0.73
R7278:Steap3	UTSW	1	120234357	missense	probably damaging	0.97
R7315:Steap3	UTSW	1	120227912	missense	probably benign	0.01
R7439:Steap3	UTSW	1	120241518	missense	probably benign	0.31
R7440:Steap3	UTSW	1	120241518	missense	probably benign	0.31
R7441:Steap3	UTSW	1	120241518	missense	probably benign	0.31
R7444:Steap3	UTSW	1	120241518	missense	probably benign	0.31
R7452:Steap3	UTSW	1	120227855	missense	possibly damaging	0.47
R8331:Steap3	UTSW	1	120241488	missense	possibly damaging	0.78
R8732:Steap3	UTSW	1	120243894	missense	probably damaging	1.00
Z1176:Steap3	UTSW	1	120241623	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAAACTCAGTTCCCGTCTC -3'
(R):5'- TTCCGGGAGCACTATTCCTCAC -3'

Sequencing Primer
(F):5'- GTTCCCGTCTCAAAAAGAACATGG -3'
(R):5'- GAGCACTATTCCTCACTGTGCAG -3'

Posted On

2016-07-06