Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4362001:Steap4'

554617

Institutional Source

Beutler Lab

Gene Symbol

Steap4

Ensembl Gene

ENSMUSG00000012428

Gene Name

STEAP family member 4

Synonyms

Tiarp, Tnfaip9

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.201) question?

Stock #

PIT4362001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7960457-7982213 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 7980337 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 398 (T398A)

Ref Sequence

ENSEMBL: ENSMUSP00000111081 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115421]

AlphaFold

Q923B6

Predicted Effect

probably benign
Transcript: ENSMUST00000115421
AA Change: T398A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000111081
Gene: ENSMUSG00000012428
AA Change: T398A

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	21	107	2.3e-16	PFAM
transmembrane domain	203	225	N/A	INTRINSIC
Pfam:Ferric_reduct	247	395	2.6e-14	PFAM
transmembrane domain	416	438	N/A	INTRINSIC

Coding Region Coverage

1x: 93.4%
3x: 91.2%
10x: 87.0%
20x: 78.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the STEAP (six transmembrane epithelial antigen of prostate) family, and resides in the golgi apparatus. It functions as a metalloreductase that has the ability to reduce both Fe(3+) to Fe(2+) and Cu(2+) to Cu(1+), using NAD(+) as acceptor. Studies in mice and human suggest that this gene maybe involved in adipocyte development and metabolism, and may contribute to the normal biology of the prostate cell, as well as prostate cancer progression. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit adipose accumulation, oxidative stress, increased liver weight, lower metabolic rate, hypoactivity, insulin resistance, glucose intolerance, mild hyperglycemia and dyslipidemia. [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
Abcg1	T	C	17: 31,064,424 (GRCm38)	S28P	possibly damaging	Het
Akr1c14	T	C	13: 4,079,100 (GRCm38)	V165A	probably damaging	Het
Aox2	A	T	1: 58,282,680 (GRCm38)	T44S	probably damaging	Het
Arhgap29	T	A	3: 122,003,212 (GRCm38)	N482K	probably benign	Het
Arhgef38	T	A	3: 133,160,830 (GRCm38)	D182V		Het
Atad5	C	T	11: 80,111,567 (GRCm38)	H1062Y	probably benign	Het
Atp6v0b	A	G	4: 117,885,256 (GRCm38)	S147P	possibly damaging	Het
Cblb	T	A	16: 52,139,542 (GRCm38)	Y299*	probably null	Het
Ccdc28b	T	C	4: 129,621,025 (GRCm38)	N97S	probably benign	Het
Cdh23	A	G	10: 60,465,458 (GRCm38)	V479A	probably benign	Het
Chuk	A	G	19: 44,098,583 (GRCm38)		probably null	Het
Cmtr2	G	A	8: 110,222,336 (GRCm38)	G426D	probably damaging	Het
Cog4	G	A	8: 110,866,672 (GRCm38)	D472N	probably damaging	Het
Creb3	T	A	4: 43,565,472 (GRCm38)	L193*	probably null	Het
Cxcr6	A	T	9: 123,810,461 (GRCm38)	I183F	probably benign	Het
Dbf4	A	G	5: 8,403,664 (GRCm38)	F253L	probably benign	Het
Dcaf8	T	C	1: 172,172,797 (GRCm38)	V174A	probably damaging	Het
Ddhd2	T	C	8: 25,735,752 (GRCm38)	Y526C	probably damaging	Het
Dnal4	A	G	15: 79,763,565 (GRCm38)	V33A	probably benign	Het
Egfl7	C	T	2: 26,591,040 (GRCm38)	P188L	probably benign	Het
Ephb3	A	G	16: 21,220,857 (GRCm38)	E707G	probably damaging	Het
Epn3	C	T	11: 94,496,523 (GRCm38)	R7H	probably damaging	Het
Fam198b	C	A	3: 79,886,939 (GRCm38)	S238Y	possibly damaging	Het
Fbp1	T	A	13: 62,867,380 (GRCm38)	I262F	probably damaging	Het
Fgfbp3	G	A	19: 36,918,688 (GRCm38)	R177*	probably null	Het
Gbp5	T	C	3: 142,500,710 (GRCm38)	S52P	probably damaging	Het
Glb1l2	A	T	9: 26,773,981 (GRCm38)	S282T	probably benign	Het
Glg1	A	T	8: 111,258,799 (GRCm38)	V133E	possibly damaging	Het
Gm4787	T	G	12: 81,377,175 (GRCm38)	L736F	probably benign	Het
Gm5565	A	T	5: 146,158,299 (GRCm38)	S212R	probably benign	Het
Grin2c	T	C	11: 115,249,633 (GRCm38)	T1220A	probably benign	Het
Grp	T	G	18: 65,886,226 (GRCm38)	S133A	probably benign	Het
Gstp2	C	A	19: 4,040,713 (GRCm38)	D147Y	possibly damaging	Het
Igkv14-130	T	C	6: 67,791,408 (GRCm38)	F84L	probably damaging	Het
Inppl1	T	C	7: 101,826,013 (GRCm38)	R944G	probably benign	Het
Lama2	A	T	10: 27,369,136 (GRCm38)	N216K	probably damaging	Het
Lrp2	T	A	2: 69,537,538 (GRCm38)	D210V	probably damaging	Het
Lrrc2	A	T	9: 110,962,540 (GRCm38)	Q120L	possibly damaging	Het
Lrriq1	A	G	10: 103,071,194 (GRCm38)	I1555T	probably benign	Het
Map2	G	A	1: 66,412,518 (GRCm38)	G189D	probably benign	Het
Mdc1	A	G	17: 35,844,469 (GRCm38)	E12G	possibly damaging	Het
Mdga2	T	C	12: 66,797,768 (GRCm38)	D152G	possibly damaging	Het
Med23	A	G	10: 24,874,571 (GRCm38)	M99V	probably benign	Het
Mutyh	G	A	4: 116,817,070 (GRCm38)	V273M	probably damaging	Het
Neurod2	T	A	11: 98,327,882 (GRCm38)	Y152F	probably damaging	Het
Olfr1002	A	C	2: 85,647,724 (GRCm38)	L199R	probably damaging	Het
Olfr1177-ps	C	T	2: 88,344,013 (GRCm38)	A247T	probably benign	Het
Olfr898	G	T	9: 38,349,198 (GRCm38)	L32F	probably benign	Het
Pcdh20	G	C	14: 88,467,026 (GRCm38)	P946R	probably damaging	Het
Pde6b	T	C	5: 108,423,585 (GRCm38)		probably null	Het
Pdzrn4	A	T	15: 92,769,881 (GRCm38)	D638V	possibly damaging	Het
Polr1b	A	G	2: 129,109,292 (GRCm38)	D275G	possibly damaging	Het
Rnf157	T	A	11: 116,360,317 (GRCm38)	D127V	probably damaging	Het
Rspo4	T	A	2: 151,867,883 (GRCm38)	C69*	probably null	Het
Scara3	T	C	14: 65,936,402 (GRCm38)	T63A	probably benign	Het
Scn2a	G	A	2: 65,683,838 (GRCm38)	E289K	probably benign	Het
Sh3gl2	A	G	4: 85,377,549 (GRCm38)	T163A	probably benign	Het
Slc2a10	T	A	2: 165,516,293 (GRCm38)	F446Y	probably damaging	Het
Snapc1	C	T	12: 73,982,495 (GRCm38)	R351C	probably damaging	Het
Snx6	A	G	12: 54,768,030 (GRCm38)	Y169H	possibly damaging	Het
Stab2	A	T	10: 86,861,435 (GRCm38)	C1996*	probably null	Het
Tep1	A	T	14: 50,866,053 (GRCm38)	L260Q	probably benign	Het
Tspan12	A	T	6: 21,835,464 (GRCm38)	V70D	possibly damaging	Het
Ttn	G	A	2: 76,739,018 (GRCm38)	A27177V	probably damaging	Het
Ube3a	T	C	7: 59,276,122 (GRCm38)	V237A	possibly damaging	Het
Vil1	G	A	1: 74,421,383 (GRCm38)	R233H	probably damaging	Het
Xrcc5	A	G	1: 72,393,929 (GRCm38)	T716A	probably benign	Het
Zbp1	A	G	2: 173,216,990 (GRCm38)	I18T	probably damaging	Het
Zfp292	A	G	4: 34,807,524 (GRCm38)	V1845A	probably benign	Het
Zfp407	A	T	18: 84,561,268 (GRCm38)	N573K	possibly damaging	Het
Zfp64	T	C	2: 168,925,815 (GRCm38)	T626A	probably benign	Het

Other mutations in Steap4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00596:Steap4	APN	5	7,976,979 (GRCm38)	missense	probably damaging	1.00
IGL00827:Steap4	APN	5	7,976,712 (GRCm38)	missense	probably damaging	1.00
IGL01481:Steap4	APN	5	7,976,858 (GRCm38)	missense	probably damaging	0.98
IGL02378:Steap4	APN	5	7,976,741 (GRCm38)	missense	probably benign	0.00
IGL03058:Steap4	APN	5	7,975,664 (GRCm38)	missense	probably benign	0.00
R0329:Steap4	UTSW	5	7,975,829 (GRCm38)	missense	possibly damaging	0.92
R0546:Steap4	UTSW	5	7,975,870 (GRCm38)	missense	probably damaging	0.99
R0637:Steap4	UTSW	5	7,978,398 (GRCm38)	splice site	probably benign
R0638:Steap4	UTSW	5	7,977,030 (GRCm38)	splice site	probably benign
R0651:Steap4	UTSW	5	7,980,348 (GRCm38)	nonsense	probably null
R0881:Steap4	UTSW	5	7,980,388 (GRCm38)	missense	probably benign
R1167:Steap4	UTSW	5	7,976,520 (GRCm38)	missense	probably benign	0.34
R1543:Steap4	UTSW	5	7,975,902 (GRCm38)	splice site	probably benign
R1889:Steap4	UTSW	5	7,975,892 (GRCm38)	missense	probably damaging	1.00
R3803:Steap4	UTSW	5	7,976,979 (GRCm38)	missense	probably damaging	1.00
R3811:Steap4	UTSW	5	7,977,017 (GRCm38)	missense	probably benign	0.18
R3885:Steap4	UTSW	5	7,980,494 (GRCm38)	missense	probably damaging	1.00
R3887:Steap4	UTSW	5	7,980,494 (GRCm38)	missense	probably damaging	1.00
R4051:Steap4	UTSW	5	7,980,404 (GRCm38)	missense	probably damaging	1.00
R4208:Steap4	UTSW	5	7,980,404 (GRCm38)	missense	probably damaging	1.00
R5016:Steap4	UTSW	5	7,976,699 (GRCm38)	nonsense	probably null
R5302:Steap4	UTSW	5	7,975,547 (GRCm38)	nonsense	probably null
R5951:Steap4	UTSW	5	7,975,769 (GRCm38)	missense	probably benign	0.00
R6136:Steap4	UTSW	5	7,978,562 (GRCm38)	missense	probably damaging	0.99
R6527:Steap4	UTSW	5	7,978,502 (GRCm38)	missense	probably damaging	0.99
R6631:Steap4	UTSW	5	7,976,995 (GRCm38)	nonsense	probably null
R6964:Steap4	UTSW	5	7,975,568 (GRCm38)	missense	probably damaging	1.00
R7055:Steap4	UTSW	5	7,976,858 (GRCm38)	missense	probably damaging	1.00
R7408:Steap4	UTSW	5	7,978,453 (GRCm38)	missense	probably benign	0.07
R7692:Steap4	UTSW	5	7,976,976 (GRCm38)	missense	probably benign	0.32
R8205:Steap4	UTSW	5	7,976,795 (GRCm38)	missense	possibly damaging	0.65
R8861:Steap4	UTSW	5	7,975,672 (GRCm38)	missense	probably benign	0.00
R9287:Steap4	UTSW	5	7,976,683 (GRCm38)	missense	probably benign	0.05
R9423:Steap4	UTSW	5	7,976,720 (GRCm38)	missense	probably damaging	0.99
R9504:Steap4	UTSW	5	7,980,538 (GRCm38)	missense	probably benign	0.00
R9531:Steap4	UTSW	5	7,978,424 (GRCm38)	missense	probably benign	0.20
R9566:Steap4	UTSW	5	7,975,646 (GRCm38)	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- GGTGCATTCATGTCTCCTAACC -3'
(R):5'- CGATTTTCCGTTCAGTGCTG -3'

Sequencing Primer
(F):5'- GTGCATTCATGTCTCCTAACCTAAAG -3'
(R):5'- GTGTACTTTGAGTTTCTTTCCCAG -3'

Posted On

2019-06-07