Mutagenetix > Incidental Mutation

Incidental Mutation 'R5951:Steap4'

470875

Institutional Source

Beutler Lab

Gene Symbol

Steap4

Ensembl Gene

ENSMUSG00000012428

Gene Name

STEAP family member 4

Synonyms

Tiarp, Tnfaip9

MMRRC Submission

044141-MU

Accession Numbers

Essential gene?

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

Stock #

R5951 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7960457-7982213 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7975769 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 110 (I110T)

Ref Sequence

ENSEMBL: ENSMUSP00000111081 (fasta)

Gene Model

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

AlphaFold

Q923B6

Predicted Effect

probably benign
Transcript: ENSMUST00000115421
AA Change: I110T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000111081
Gene: ENSMUSG00000012428
AA Change: I110T

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

Meta Mutation Damage Score

0.0619

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

100% (78/78)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	A	2: 35,354,799 (GRCm38)	E180D	probably damaging	Het
Add3	A	G	19: 53,244,289 (GRCm38)		probably null	Het
Adgrv1	A	T	13: 81,442,501 (GRCm38)	I4396N	probably damaging	Het
Apc	C	T	18: 34,317,146 (GRCm38)	S2331L	possibly damaging	Het
Apoh	G	T	11: 108,395,903 (GRCm38)	C51F	probably damaging	Het
Arid4b	T	C	13: 14,143,063 (GRCm38)	V177A	possibly damaging	Het
Atp13a1	T	A	8: 69,797,285 (GRCm38)	I343N	probably damaging	Het
Bcar1	T	C	8: 111,713,400 (GRCm38)	D654G	probably benign	Het
Brox	T	C	1: 183,282,508 (GRCm38)	K245R	probably damaging	Het
Ccdc146	A	T	5: 21,319,579 (GRCm38)	S258R	possibly damaging	Het
Ccdc169	A	C	3: 55,140,141 (GRCm38)	K18Q	probably damaging	Het
Cenps	C	A	4: 149,130,201 (GRCm38)		probably benign	Het
Crot	C	A	5: 8,969,120 (GRCm38)	E478*	probably null	Het
Dgkq	A	T	5: 108,654,370 (GRCm38)	M443K	probably damaging	Het
Dhx32	A	T	7: 133,737,328 (GRCm38)	L326Q	probably damaging	Het
Dtwd1	A	G	2: 126,158,422 (GRCm38)	I93V	probably benign	Het
Ehmt2	C	T	17: 34,899,381 (GRCm38)	T44I	probably benign	Het
Enc1	T	C	13: 97,245,257 (GRCm38)	S92P	probably benign	Het
Epha5	T	C	5: 84,331,192 (GRCm38)		probably benign	Het
Eya4	T	A	10: 23,155,994 (GRCm38)	S244C	probably damaging	Het
Fmnl3	G	A	15: 99,325,910 (GRCm38)	R302W	probably damaging	Het
Fscn3	A	T	6: 28,436,174 (GRCm38)	I490F	possibly damaging	Het
Galntl6	A	G	8: 57,962,402 (GRCm38)	V239A	probably benign	Het
Glg1	T	C	8: 111,165,691 (GRCm38)	I841V	possibly damaging	Het
Gm15455	T	C	1: 33,837,812 (GRCm38)		noncoding transcript	Het
Gpd1l	C	T	9: 114,914,405 (GRCm38)	M142I	probably benign	Het
Helb	A	G	10: 120,091,748 (GRCm38)	V819A	possibly damaging	Het
Hnrnpul2	T	G	19: 8,824,891 (GRCm38)	F374C	probably damaging	Het
Hoxc10	G	A	15: 102,967,318 (GRCm38)	S154N	possibly damaging	Het
Ice2	A	T	9: 69,412,369 (GRCm38)	T367S	possibly damaging	Het
Iqca1	A	T	1: 90,140,097 (GRCm38)		probably null	Het
Itgb4	C	T	11: 115,984,157 (GRCm38)	R447W	probably benign	Het
Klhl14	T	A	18: 21,651,620 (GRCm38)	H250L	probably damaging	Het
Kmt2c	A	T	5: 25,330,803 (GRCm38)	D1447E	probably benign	Het
Larp1	G	T	11: 58,049,939 (GRCm38)	M630I	probably benign	Het
Lrp2	A	G	2: 69,496,323 (GRCm38)		probably null	Het
Map4k3	G	T	17: 80,603,998 (GRCm38)	Q673K	probably benign	Het
Mettl16	A	G	11: 74,795,997 (GRCm38)	N201D	possibly damaging	Het
Mrpl15	C	A	1: 4,785,733 (GRCm38)		probably benign	Het
Mthfd1l	T	A	10: 4,048,222 (GRCm38)	V655D	probably damaging	Het
Odf1	T	C	15: 38,226,287 (GRCm38)	Y144H	probably damaging	Het
Or2f1b	G	T	6: 42,762,559 (GRCm38)	C169F	probably damaging	Het
Or5t5	G	T	2: 86,786,227 (GRCm38)	V166L	probably benign	Het
Padi1	T	C	4: 140,814,829 (GRCm38)	Y594C	probably damaging	Het
Palm3	T	A	8: 84,029,420 (GRCm38)	D520E	probably benign	Het
Paox	G	A	7: 140,127,654 (GRCm38)	C130Y	probably damaging	Het
Parpbp	T	A	10: 88,139,907 (GRCm38)	S115C	probably damaging	Het
Pcnx3	A	G	19: 5,671,680 (GRCm38)	V1438A	possibly damaging	Het
Pdlim2	T	A	14: 70,167,780 (GRCm38)	D212V	probably benign	Het
Pi4ka	A	G	16: 17,303,142 (GRCm38)	F53L	probably damaging	Het
Pik3c2a	A	T	7: 116,368,184 (GRCm38)	D839E	probably damaging	Het
Pou2f1	T	C	1: 165,883,056 (GRCm38)		probably benign	Het
Ppl	A	T	16: 5,088,628 (GRCm38)	Y1268N	probably benign	Het
Prelid3a	C	T	18: 67,464,941 (GRCm38)	S6L	probably benign	Het
Ptk2	T	G	15: 73,303,833 (GRCm38)	D285A	possibly damaging	Het
Rasd2	T	G	8: 75,222,183 (GRCm38)	Y246D	probably damaging	Het
Rhbdl2	A	G	4: 123,814,327 (GRCm38)	T110A	probably benign	Het
Rhobtb1	T	A	10: 69,270,255 (GRCm38)	F217I	probably damaging	Het
Serhl	T	C	15: 83,103,036 (GRCm38)		probably benign	Het
Sh3tc2	A	G	18: 61,990,007 (GRCm38)	E613G	probably damaging	Het
Slc26a3	A	G	12: 31,452,715 (GRCm38)		probably benign	Het
Syde1	C	A	10: 78,589,316 (GRCm38)	R287L	possibly damaging	Het
Tmem184c	C	T	8: 77,598,662 (GRCm38)		probably null	Het
Trmt44	C	A	5: 35,572,688 (GRCm38)		probably benign	Het
Ttbk2	G	T	2: 120,773,283 (GRCm38)	S256R	probably benign	Het
Ttll6	A	T	11: 96,145,510 (GRCm38)	I322F	probably damaging	Het
Ubap2	A	T	4: 41,205,753 (GRCm38)		probably null	Het
Wsb2	A	T	5: 117,377,535 (GRCm38)	T402S	probably damaging	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
PIT4362001:Steap4	UTSW	5	7,980,337 (GRCm38)	missense	probably benign	0.03
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
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'- TGAAAATGCTTCAGTGTGGC -3'
(R):5'- AAGAGTTGCATTCAGGTATGGAC -3'

Sequencing Primer
(F):5'- TTTTGGGAGTCGAAACCCC -3'
(R):5'- CTAGTGTTCCTGACTGGA -3'

Posted On

2017-03-31