Mutagenetix > Incidental Mutation

Incidental Mutation 'R7315:Steap3'

567853

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 #

R7315 (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 G at 120227912 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 439 (V439A)

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: V401A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000108258
Gene: ENSMUSG00000026389
AA Change: V401A

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: V401A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000108259
Gene: ENSMUSG00000026389
AA Change: V401A

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: V401A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000108260
Gene: ENSMUSG00000026389
AA Change: V401A

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: V439A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000108262
Gene: ENSMUSG00000026389
AA Change: V439A

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	C	7: 120,294,118	I1264L	probably benign	Het
Abcg8	C	A	17: 84,696,714	D484E	probably damaging	Het
Abhd13	T	A	8: 9,987,970	L189H	probably damaging	Het
Acox2	T	C	14: 8,256,139	D60G	probably damaging	Het
Acpp	A	G	9: 104,316,224		probably null	Het
Agpat4	C	T	17: 12,210,298	R146C	probably damaging	Het
Antxrl	T	C	14: 34,071,547	S411P	unknown	Het
B4galt5	A	G	2: 167,301,376	V376A	probably damaging	Het
BB287469	A	G	12: 87,819,703	E128G	unknown	Het
Camk1d	T	C	2: 5,339,230	Y198C	probably damaging	Het
Cd1d1	C	T	3: 86,998,113	R191H	possibly damaging	Het
Cd93	A	G	2: 148,442,541	V295A	probably damaging	Het
Cdc27	G	A	11: 104,515,444	T615I	possibly damaging	Het
Cfap74	T	C	4: 155,463,019	Y1221H	unknown	Het
Col24a1	G	A	3: 145,431,870	S896N	possibly damaging	Het
Cst7	C	A	2: 150,570,583	P22Q	probably benign	Het
Dnah6	C	T	6: 73,084,760	A2781T	probably damaging	Het
Dscaml1	G	A	9: 45,745,125	A1588T	probably benign	Het
Dsg2	A	T	18: 20,579,160	I118F	probably damaging	Het
Eme2	G	A	17: 24,894,866	R62W	probably damaging	Het
Epha3	A	T	16: 63,552,609	D910E	probably benign	Het
Ext1	T	C	15: 53,073,387	D654G	probably damaging	Het
Fam46b	C	T	4: 133,487,084	T422I	probably damaging	Het
Fnip2	A	G	3: 79,506,205		probably null	Het
Gon4l	T	A	3: 88,895,179	H1032Q	probably benign	Het
Ispd	A	G	12: 36,390,374	T94A	probably benign	Het
Kitl	G	A	10: 100,016,112	R31H	unknown	Het
Lcp2	G	A	11: 34,069,906		probably null	Het
Lrp2	T	C	2: 69,491,822	H1921R	probably damaging	Het
Lvrn	A	G	18: 46,876,984	T400A	probably benign	Het
Mak16	G	A	8: 31,164,738	R143*	probably null	Het
Mettl23	A	G	11: 116,849,102	I159V	probably benign	Het
Mr1	T	C	1: 155,129,290	N335D	probably benign	Het
Muc2	T	C	7: 141,690,402	C12R	probably damaging	Het
Myom1	T	C	17: 71,080,897		probably null	Het
Nav2	A	G	7: 49,548,289	N33S	possibly damaging	Het
Ninl	A	G	2: 150,950,050	V851A	probably benign	Het
Nmt1	A	G	11: 103,060,183	N367D	probably benign	Het
Noc2l	T	G	4: 156,241,360	S354R	probably damaging	Het
Olfr104-ps	G	T	17: 37,362,660	C181F	probably damaging	Het
Olfr1302	T	C	2: 111,780,659	V113A	probably damaging	Het
Olfr151	T	C	9: 37,730,576	M136V	probably benign	Het
Olfr198	A	G	16: 59,202,133	F98L	probably benign	Het
Olfr293	T	C	7: 86,664,237	S192P	probably damaging	Het
Olfr70	T	A	4: 43,696,961	I71F	probably damaging	Het
Olfr860	G	T	9: 19,845,835	S261R	probably damaging	Het
Olfr877	A	T	9: 37,855,247	Y143F	probably benign	Het
Opn1sw	A	T	6: 29,379,363	I214N	probably damaging	Het
Papss2	T	C	19: 32,639,225	V217A	possibly damaging	Het
Pes1	A	G	11: 3,976,085	I291M	probably benign	Het
Pqlc2	G	A	4: 139,301,870	T101M	probably damaging	Het
Ptprb	T	A	10: 116,362,379	I1660N	possibly damaging	Het
Rapgef1	C	A	2: 29,734,492	T1030K	probably damaging	Het
Rassf8	A	G	6: 145,815,751	M268V	probably benign	Het
Rbl2	A	T	8: 91,076,012	T154S	probably damaging	Het
Rgs1	A	G	1: 144,248,899		probably null	Het
Rpgrip1	C	T	14: 52,121,001	T188I	not run	Het
Rrp1b	T	A	17: 32,058,571	F608L	probably benign	Het
Sbp	C	T	17: 23,945,306	A154V	probably benign	Het
Scara3	C	T	14: 65,931,440	E243K	probably damaging	Het
Serpinb6b	A	T	13: 32,972,257	D110V	probably benign	Het
Skiv2l	T	A	17: 34,841,169	D875V	probably benign	Het
Slc2a4	G	C	11: 69,946,433	T59R	probably damaging	Het
Slc4a1	A	G	11: 102,356,484	S462P	probably damaging	Het
Snx33	C	T	9: 56,925,867	R306H	probably damaging	Het
Srf	T	C	17: 46,551,794		probably null	Het
Syt10	C	T	15: 89,814,338	D268N	probably damaging	Het
Terf2	T	C	8: 107,081,217	N242S	probably benign	Het
Tex15	A	G	8: 33,581,516	T2364A	probably benign	Het
Tgfbr2	A	T	9: 116,109,738	H365Q	possibly damaging	Het
Tnrc6c	T	G	11: 117,723,528	N837K	probably benign	Het
Trim67	T	A	8: 124,794,330	S144T	probably benign	Het
Zc3hav1l	T	G	6: 38,295,147	D229A	possibly damaging	Het
Zmym4	A	T	4: 126,882,592	V1184E	probably benign	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
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
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'- CCTGCGTATCTTGGTGAGTC -3'
(R):5'- ATGCAGGCCCAGATAGTTTAGG -3'

Sequencing Primer
(F):5'- GAGTCTGCGGTTGAGGC -3'
(R):5'- AGCCTTATGTGCATGAAGCC -3'

Posted On

2019-06-26