Mutagenetix > Incidental Mutation

Incidental Mutation 'R0267:Steap2'

34986

Institutional Source

Beutler Lab

Gene Symbol

Steap2

Ensembl Gene

ENSMUSG00000015653

Gene Name

six transmembrane epithelial antigen of prostate 2

Synonyms

4921538B17Rik

MMRRC Submission

038493-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0267 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5714829-5744578 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5723561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 440 (I440F)

Ref Sequence

ENSEMBL: ENSMUSP00000132501 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015797] [ENSMUST00000115424] [ENSMUST00000115425] [ENSMUST00000115426] [ENSMUST00000115427] [ENSMUST00000148333] [ENSMUST00000164219]

AlphaFold

Q8BWB6

Predicted Effect

probably benign
Transcript: ENSMUST00000015797
AA Change: I440F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000015797
Gene: ENSMUSG00000015653
AA Change: I440F

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	31	118	8.9e-19	PFAM
transmembrane domain	209	231	N/A	INTRINSIC
Pfam:Ferric_reduct	258	405	2.8e-16	PFAM
transmembrane domain	431	453	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115424
AA Change: I440F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000111084
Gene: ENSMUSG00000015653
AA Change: I440F

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	31	118	4e-18	PFAM
transmembrane domain	209	231	N/A	INTRINSIC
Pfam:Ferric_reduct	258	406	1.5e-22	PFAM
transmembrane domain	431	453	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115425
AA Change: I440F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000111085
Gene: ENSMUSG00000015653
AA Change: I440F

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	31	118	4e-18	PFAM
transmembrane domain	209	231	N/A	INTRINSIC
Pfam:Ferric_reduct	258	406	1.5e-22	PFAM
transmembrane domain	431	453	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115426
AA Change: I440F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000111086
Gene: ENSMUSG00000015653
AA Change: I440F

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	31	118	4e-18	PFAM
transmembrane domain	209	231	N/A	INTRINSIC
Pfam:Ferric_reduct	258	406	1.5e-22	PFAM
transmembrane domain	431	453	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115427

SMART Domains

Protein: ENSMUSP00000111087
Gene: ENSMUSG00000015653

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	31	118	2.3e-17	PFAM
transmembrane domain	209	231	N/A	INTRINSIC
Pfam:Ferric_reduct	258	401	1.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148333
AA Change: I440F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000116910
Gene: ENSMUSG00000015653
AA Change: I440F

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	31	118	8.3e-18	PFAM
transmembrane domain	209	231	N/A	INTRINSIC
Pfam:Ferric_reduct	258	406	2.7e-22	PFAM
transmembrane domain	431	453	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149412

Predicted Effect

probably benign
Transcript: ENSMUST00000164219
AA Change: I440F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000132501
Gene: ENSMUSG00000015653
AA Change: I440F

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	31	118	4e-18	PFAM
transmembrane domain	209	231	N/A	INTRINSIC
Pfam:Ferric_reduct	258	406	1.5e-22	PFAM
transmembrane domain	431	453	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150238

Meta Mutation Damage Score

0.1022

Coding Region Coverage

1x: 98.6%
3x: 97.7%
10x: 96.2%
20x: 94.0%

Validation Efficiency

97% (64/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the STEAP family and encodes a multi-pass membrane protein that localizes to the Golgi complex, the plasma membrane, and the vesicular tubular structures in the cytosol. A highly similar protein in mouse has both ferrireductase and cupric reductase activity, and stimulates the cellular uptake of both iron and copper in vitro. Increased transcriptional expression of the human gene is associated with prostate cancer progression. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,046,105 (GRCm39)	F1721S	probably damaging	Het
Adgrb1	G	A	15: 74,401,238 (GRCm39)	R78H	probably damaging	Het
Adgrd1	G	A	5: 129,216,658 (GRCm39)	A342T	probably benign	Het
Adrb1	A	T	19: 56,711,923 (GRCm39)	K374*	probably null	Het
Aldh18a1	C	A	19: 40,562,233 (GRCm39)	V264F	probably benign	Het
Aldh1l2	C	T	10: 83,358,551 (GRCm39)		probably benign	Het
Alox15	T	A	11: 70,236,979 (GRCm39)	H393L	probably damaging	Het
Aox1	A	G	1: 58,378,605 (GRCm39)		probably benign	Het
Appbp2	T	C	11: 85,092,288 (GRCm39)	Y297C	probably damaging	Het
Atxn2l	T	G	7: 126,092,379 (GRCm39)	Q950P	probably damaging	Het
Bicd1	A	T	6: 149,418,540 (GRCm39)	D737V	probably damaging	Het
C9	T	C	15: 6,496,939 (GRCm39)	I212T	probably benign	Het
Ccdc63	A	T	5: 122,255,107 (GRCm39)		probably benign	Het
Chst1	C	A	2: 92,443,951 (GRCm39)	P141Q	probably damaging	Het
Cped1	T	A	6: 22,119,475 (GRCm39)	F311L	probably damaging	Het
D6Wsu163e	T	A	6: 126,923,454 (GRCm39)	H113Q	probably benign	Het
Dcn	A	T	10: 97,342,345 (GRCm39)		probably benign	Het
Dmbx1	C	T	4: 115,775,309 (GRCm39)	A324T	probably benign	Het
Dock10	G	T	1: 80,490,171 (GRCm39)	Q1618K	probably damaging	Het
Dpyd	A	G	3: 118,710,921 (GRCm39)	E443G	probably benign	Het
Espl1	T	C	15: 102,221,452 (GRCm39)	V953A	possibly damaging	Het
Exosc10	T	C	4: 148,647,213 (GRCm39)	L174P	probably damaging	Het
Foxg1	A	G	12: 49,432,365 (GRCm39)	Y366C	probably damaging	Het
Fxyd3	T	C	7: 30,770,159 (GRCm39)		probably benign	Het
Gbp2	T	C	3: 142,335,867 (GRCm39)	V189A	probably benign	Het
Gins4	T	C	8: 23,719,426 (GRCm39)		probably benign	Het
Gm12789	A	G	4: 101,845,319 (GRCm39)	T3A	probably benign	Het
Gnb1l	T	C	16: 18,366,839 (GRCm39)		probably benign	Het
Gtpbp3	T	C	8: 71,944,141 (GRCm39)	L295S	probably damaging	Het
Hrh4	C	A	18: 13,155,455 (GRCm39)	Y331*	probably null	Het
Hsd11b1	A	T	1: 192,923,705 (GRCm39)	Y52N	probably damaging	Het
Jam3	A	G	9: 27,017,701 (GRCm39)	I29T	probably benign	Het
Kctd16	T	A	18: 40,663,930 (GRCm39)	I353N	probably benign	Het
Lama4	G	T	10: 38,904,635 (GRCm39)	G246C	probably damaging	Het
Lhx3	T	A	2: 26,093,040 (GRCm39)	M137L	probably benign	Het
Morc2a	T	C	11: 3,628,567 (GRCm39)	I340T	probably benign	Het
Myo7a	A	C	7: 97,703,831 (GRCm39)	I1969S	probably benign	Het
Or14a258	T	C	7: 86,035,475 (GRCm39)	E131G	possibly damaging	Het
Or5b116	T	A	19: 13,422,792 (GRCm39)	C139S	probably damaging	Het
Or6n1	A	G	1: 173,916,732 (GRCm39)	N42S	probably damaging	Het
Pclo	T	C	5: 14,731,194 (GRCm39)	L3232P	unknown	Het
Polr1a	T	G	6: 71,951,123 (GRCm39)	I1407M	probably damaging	Het
Ppip5k2	A	G	1: 97,656,722 (GRCm39)	V817A	probably damaging	Het
Rbfox3	T	C	11: 118,386,066 (GRCm39)	T280A	probably benign	Het
Rfx3	T	C	19: 27,771,188 (GRCm39)	D521G	probably benign	Het
Scn5a	C	T	9: 119,372,201 (GRCm39)	V223I	probably damaging	Het
Sgsm3	T	G	15: 80,890,803 (GRCm39)	M119R	probably damaging	Het
Slc6a7	T	A	18: 61,129,783 (GRCm39)	M608L	probably benign	Het
Slit2	A	G	5: 48,339,673 (GRCm39)		probably benign	Het
Syn2	T	G	6: 115,231,111 (GRCm39)		probably benign	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Tfb2m	G	A	1: 179,361,203 (GRCm39)	H262Y	probably benign	Het
Trmt1l	A	G	1: 151,333,426 (GRCm39)		probably benign	Het
Trpm6	C	A	19: 18,800,742 (GRCm39)	P819T	probably benign	Het
Ttn	G	A	2: 76,574,033 (GRCm39)	A25620V	probably damaging	Het
Ubn2	T	C	6: 38,459,553 (GRCm39)		probably null	Het
Vars1	T	C	17: 35,230,572 (GRCm39)		probably benign	Het
Vip	A	T	10: 5,594,004 (GRCm39)	D119V	possibly damaging	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Vps33b	T	C	7: 79,935,802 (GRCm39)	I405T	possibly damaging	Het
Zbtb21	T	A	16: 97,753,300 (GRCm39)	S356C	probably damaging	Het
Zdhhc6	A	T	19: 55,297,362 (GRCm39)	S237T	probably benign	Het
Zfp142	G	A	1: 74,615,223 (GRCm39)	A427V	probably benign	Het
Zfp692	T	A	11: 58,205,140 (GRCm39)	V463E	possibly damaging	Het
Zmynd8	A	T	2: 165,670,322 (GRCm39)	I384N	probably damaging	Het

Other mutations in Steap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02052:Steap2	APN	5	5,723,586 (GRCm39)	missense	probably damaging	0.99
IGL02272:Steap2	APN	5	5,727,612 (GRCm39)	missense	probably benign	0.10
IGL02680:Steap2	APN	5	5,723,474 (GRCm39)	missense	probably benign	0.00
R1670:Steap2	UTSW	5	5,727,393 (GRCm39)	missense	possibly damaging	0.80
R2175:Steap2	UTSW	5	5,723,501 (GRCm39)	missense	probably damaging	1.00
R2188:Steap2	UTSW	5	5,723,643 (GRCm39)	nonsense	probably null
R2374:Steap2	UTSW	5	5,725,845 (GRCm39)	missense	probably damaging	0.99
R4902:Steap2	UTSW	5	5,725,866 (GRCm39)	missense	possibly damaging	0.91
R4941:Steap2	UTSW	5	5,727,651 (GRCm39)	missense	probably damaging	1.00
R5012:Steap2	UTSW	5	5,727,784 (GRCm39)	missense	possibly damaging	0.48
R5555:Steap2	UTSW	5	5,727,544 (GRCm39)	missense	possibly damaging	0.89
R5571:Steap2	UTSW	5	5,725,912 (GRCm39)	missense	probably damaging	1.00
R5666:Steap2	UTSW	5	5,723,681 (GRCm39)	missense	probably benign	0.00
R5670:Steap2	UTSW	5	5,723,681 (GRCm39)	missense	probably benign	0.00
R5677:Steap2	UTSW	5	5,727,497 (GRCm39)	nonsense	probably null
R6101:Steap2	UTSW	5	5,725,891 (GRCm39)	missense	possibly damaging	0.71
R6105:Steap2	UTSW	5	5,725,891 (GRCm39)	missense	possibly damaging	0.71
R6190:Steap2	UTSW	5	5,725,881 (GRCm39)	missense	probably damaging	1.00
R7172:Steap2	UTSW	5	5,732,896 (GRCm39)	missense	possibly damaging	0.52
R7576:Steap2	UTSW	5	5,727,406 (GRCm39)	missense	probably benign	0.01
R7706:Steap2	UTSW	5	5,732,967 (GRCm39)	missense	possibly damaging	0.95
R8747:Steap2	UTSW	5	5,723,539 (GRCm39)	missense	probably benign	0.36
R9020:Steap2	UTSW	5	5,723,480 (GRCm39)	missense	probably benign	0.00
R9040:Steap2	UTSW	5	5,732,722 (GRCm39)	missense	probably benign
R9113:Steap2	UTSW	5	5,727,475 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCACCTCTTGTCATCACATCACTG -3'
(R):5'- TGCAACTGCCTTAAATTGCCCAATTC -3'

Sequencing Primer
(F):5'- TGTCATCACATCACTGTGACC -3'
(R):5'- TTGCCCAATTCAGAAGACAGTAG -3'

Posted On

2013-05-09