Mutagenetix > Incidental Mutation

Incidental Mutation 'R7439:Steap3'

576792

Institutional Source

Beutler Lab

Gene Symbol

Steap3

Ensembl Gene

ENSMUSG00000026389

Gene Name

STEAP family member 3

Synonyms

pHyde, 1010001D01Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7439 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120190757-120272705 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 120241518 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 350 (F350V)

Ref Sequence

ENSEMBL: ENSMUSP00000108262 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000112639
AA Change: F312V

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000108258
Gene: ENSMUSG00000026389
AA Change: F312V

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 benign
Transcript: ENSMUST00000112640
AA Change: F312V

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000108259
Gene: ENSMUSG00000026389
AA Change: F312V

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 benign
Transcript: ENSMUST00000112641
AA Change: F312V

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000108260
Gene: ENSMUSG00000026389
AA Change: F312V

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 benign
Transcript: ENSMUST00000112643
AA Change: F350V

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108262
Gene: ENSMUSG00000026389
AA Change: F350V

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 benign
Transcript: ENSMUST00000140490
AA Change: F312V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000121046
Gene: ENSMUSG00000026389
AA Change: F312V

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	30	117	1.6e-18	PFAM
Pfam:Ferric_reduct	259	406	3.6e-20	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 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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530003J23Rik	G	A	10: 117,238,697		probably benign	Het
Acacb	T	C	5: 114,195,642	V542A	possibly damaging	Het
Adprhl1	C	T	8: 13,223,069	V1230I	probably benign	Het
Agpat1	T	A	17: 34,610,909	Y77N	probably damaging	Het
Apc	T	A	18: 34,312,073	I674K	probably damaging	Het
Arpc5	T	C	1: 152,771,436	S97P	probably damaging	Het
Arrdc5	A	G	17: 56,297,931	F119L	probably benign	Het
Asap1	A	G	15: 64,130,256	V402A	probably damaging	Het
Aspg	T	C	12: 112,124,821	V479A	possibly damaging	Het
B3galnt2	G	A	13: 13,994,485	V368M	probably benign	Het
Bcl3	T	C	7: 19,822,611	T23A	probably benign	Het
Bpifb5	A	G	2: 154,228,933	K215E	possibly damaging	Het
Coa4	T	A	7: 100,539,271	C64S	probably damaging	Het
Dcun1d4	T	C	5: 73,491,536		probably null	Het
Dnaaf5	T	G	5: 139,166,113	C506W	probably damaging	Het
Dock3	A	G	9: 107,023,732	Y345H	probably damaging	Het
Dscaml1	A	G	9: 45,710,326	N1024S	possibly damaging	Het
Dsp	T	C	13: 38,176,502		probably null	Het
Dsp	A	G	13: 38,195,449	T2057A	probably benign	Het
Dync1h1	T	G	12: 110,636,453	L2176R	probably damaging	Het
Eif5b	A	C	1: 38,051,637	D1192A	probably benign	Het
Epn2	A	T	11: 61,546,848		probably benign	Het
Exoc1	T	A	5: 76,545,348	N360K	probably benign	Het
Fam135b	A	T	15: 71,463,680	V555E	probably damaging	Het
Fam208a	T	A	14: 27,471,645	V934E	probably damaging	Het
Fmn1	A	T	2: 113,441,611	Q108L	unknown	Het
Gcc2	A	G	10: 58,256,901	T48A	probably benign	Het
Gm438	T	C	4: 144,777,762	D273G	probably damaging	Het
Gm6619	T	G	6: 131,490,391	I73S	possibly damaging	Het
Gm8267	T	A	14: 44,722,940	D116V	probably damaging	Het
Hapln3	T	A	7: 79,117,269	T341S	probably benign	Het
Lamb3	C	A	1: 193,332,166	D544E	possibly damaging	Het
Lhx5	T	A	5: 120,440,284	S390T	probably benign	Het
Lrrc63	A	G	14: 75,126,257	S145P	possibly damaging	Het
Lrriq1	T	C	10: 103,214,519	M791V	probably benign	Het
Lyg2	A	G	1: 37,911,137	Y37H	possibly damaging	Het
Nrbp1	T	A	5: 31,244,956	M172K	probably damaging	Het
Olfr1044	T	A	2: 86,171,010	D269V	probably damaging	Het
Olfr1261	A	G	2: 89,993,839	I149V	probably benign	Het
Olfr168	T	G	16: 19,530,900	S7R	probably benign	Het
Pcyt2	A	T	11: 120,611,383	Y308N	possibly damaging	Het
Peg10	C	CTCA	6: 4,756,453		probably benign	Het
Phf21b	A	G	15: 84,804,903	S141P	probably damaging	Het
Pigh	G	A	12: 79,089,550	P24S	probably benign	Het
Plekhg3	A	G	12: 76,576,485	D834G	probably damaging	Het
Plekhg5	T	A	4: 152,113,935	V860D	probably benign	Het
Pon1	A	G	6: 5,177,399	I170T	probably damaging	Het
Ptpn9	T	A	9: 57,027,433	Y160*	probably null	Het
Ptprj	T	C	2: 90,449,819	K1045R	possibly damaging	Het
Rilpl2	T	A	5: 124,463,788	H196L	probably benign	Het
Rnf112	C	T	11: 61,451,028	V317I	possibly damaging	Het
Rundc3a	G	T	11: 102,400,046		probably null	Het
Sgsm1	T	C	5: 113,274,321	Y489C	probably damaging	Het
Sis	G	A	3: 72,909,041	H1531Y	possibly damaging	Het
Slc26a9	A	G	1: 131,762,818	Y520C	probably damaging	Het
Smc5	A	G	19: 23,242,700	V467A	probably damaging	Het
Spata20	G	A	11: 94,484,041	A245V	probably benign	Het
Sucnr1	A	G	3: 60,086,696	Q215R	probably benign	Het
Supv3l1	G	A	10: 62,430,615	A594V	probably damaging	Het
Swt1	A	T	1: 151,411,064	F226I	probably benign	Het
Taar7f	A	G	10: 24,049,987	T160A	possibly damaging	Het
Tada2a	A	T	11: 84,126,986		probably null	Het
Taok3	C	A	5: 117,250,909	Q460K	probably damaging	Het
Twf2	A	G	9: 106,214,398	E268G	probably damaging	Het
Upf2	A	T	2: 6,018,932	I698F	unknown	Het
Vmn2r35	T	A	7: 7,817,014	N86Y	probably damaging	Het
Vmn2r84	T	C	10: 130,392,113	T85A	possibly damaging	Het
Vps13d	A	G	4: 145,105,856	S2833P		Het
Xrn1	T	C	9: 96,051,629	S1584P	probably benign	Het
Zfp354b	T	C	11: 50,922,397	Y567C	probably damaging	Het
Zfp52	A	T	17: 21,560,870	R327*	probably null	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
R5176:Steap3	UTSW	1	120243767	critical splice donor site	probably null
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
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
R9135:Steap3	UTSW	1	120234318	missense	probably benign	0.06
R9332:Steap3	UTSW	1	120227834	missense	probably benign	0.12
Z1176:Steap3	UTSW	1	120241623	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGTGTCTGCTCTTCCTTGG -3'
(R):5'- CAGCCATACATTCGGAAAGATGAG -3'

Sequencing Primer
(F):5'- GCCTCGCCTTGTTTAAATATGAG -3'
(R):5'- GAACAAGTTCTACAAGATGCCCTTG -3'

Posted On

2019-10-07