Incidental Mutation 'R0546:Steap4'
ID 44815
Institutional Source Beutler Lab
Gene Symbol Steap4
Ensembl Gene ENSMUSG00000012428
Gene Name STEAP family member 4
Synonyms Tnfaip9, Tiarp
MMRRC Submission 038738-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R0546 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 8010472-8032213 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8025870 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 144 (S144P)
Ref Sequence ENSEMBL: ENSMUSP00000111081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115421]
AlphaFold Q923B6
Predicted Effect probably damaging
Transcript: ENSMUST00000115421
AA Change: S144P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111081
Gene: ENSMUSG00000012428
AA Change: S144P

DomainStartEndE-ValueType
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 0.3179 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 99% (74/75)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,077,076 (GRCm39) probably null Het
Actn1 C T 12: 80,225,208 (GRCm39) R418Q probably benign Het
Adam39 G A 8: 41,279,468 (GRCm39) V620M probably damaging Het
Agr3 C A 12: 35,978,329 (GRCm39) T14K probably benign Het
Alpk2 T C 18: 65,439,788 (GRCm39) D1002G probably benign Het
Amz2 T A 11: 109,324,780 (GRCm39) N221K probably benign Het
Aox4 A G 1: 58,289,333 (GRCm39) E752G probably damaging Het
Ap2a1 C T 7: 44,554,132 (GRCm39) G500S probably damaging Het
Car5b G A X: 162,762,297 (GRCm39) R282C probably damaging Het
Ccdc112 A G 18: 46,424,139 (GRCm39) S200P possibly damaging Het
Ccdc18 A T 5: 108,322,830 (GRCm39) E643D probably benign Het
Ccdc180 A T 4: 45,904,597 (GRCm39) T398S possibly damaging Het
Cnp A G 11: 100,471,549 (GRCm39) Y397C probably damaging Het
Cpa4 T C 6: 30,580,962 (GRCm39) W184R probably damaging Het
Crebbp A T 16: 3,903,671 (GRCm39) I1856N probably damaging Het
Ctrl A G 8: 106,658,966 (GRCm39) I200T probably damaging Het
Cyfip1 C T 7: 55,572,564 (GRCm39) R934* probably null Het
Dennd5a A G 7: 109,520,633 (GRCm39) V408A probably benign Het
Dhfr G A 13: 92,504,692 (GRCm39) probably null Het
Dnajc6 A T 4: 101,492,388 (GRCm39) N740Y probably damaging Het
Fam110a T C 2: 151,812,732 (GRCm39) T13A probably benign Het
Fars2 G T 13: 36,388,569 (GRCm39) K19N probably benign Het
Fer1l6 A T 15: 58,430,257 (GRCm39) probably null Het
Gabra1 T A 11: 42,053,428 (GRCm39) T69S probably damaging Het
Galnt18 T G 7: 111,107,348 (GRCm39) N475T probably damaging Het
Gbp4 T C 5: 105,268,836 (GRCm39) Y439C probably damaging Het
Gpatch2l A G 12: 86,335,622 (GRCm39) *409W probably null Het
Hip1r T C 5: 124,137,114 (GRCm39) V658A possibly damaging Het
Hspg2 A G 4: 137,229,605 (GRCm39) D73G probably benign Het
Ifitm2 A G 7: 140,535,656 (GRCm39) V58A possibly damaging Het
Ift172 T C 5: 31,414,945 (GRCm39) D1359G probably benign Het
Ing1 A G 8: 11,607,031 (GRCm39) D41G probably damaging Het
Itgal C T 7: 126,909,486 (GRCm39) T446I probably benign Het
Itgav G T 2: 83,633,586 (GRCm39) M978I probably benign Het
Jazf1 A G 6: 52,754,681 (GRCm39) Y132H possibly damaging Het
Lgr4 T A 2: 109,829,766 (GRCm39) N211K probably damaging Het
Mgat4d A G 8: 84,082,350 (GRCm39) N100S possibly damaging Het
Mrgprb3 T C 7: 48,293,263 (GRCm39) Y96C probably damaging Het
Myh11 A C 16: 14,023,492 (GRCm39) L1562R probably damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Myo15a A G 11: 60,397,139 (GRCm39) Y2667C probably damaging Het
Or14j7 T A 17: 38,235,229 (GRCm39) C257* probably null Het
Or52ae7 A G 7: 103,119,907 (GRCm39) I220M possibly damaging Het
Or6c70 G A 10: 129,710,407 (GRCm39) T73I possibly damaging Het
Or8k37 T A 2: 86,469,573 (GRCm39) T160S possibly damaging Het
Or8k38 C T 2: 86,488,235 (GRCm39) C189Y possibly damaging Het
Or9m2 T A 2: 87,820,816 (GRCm39) Y120* probably null Het
Paox G T 7: 139,711,591 (GRCm39) G148W probably damaging Het
Pkd1 T C 17: 24,799,112 (GRCm39) V2777A probably benign Het
Plod2 T A 9: 92,477,388 (GRCm39) V360E probably damaging Het
Prune2 T C 19: 16,998,030 (GRCm39) probably benign Het
Sbds G T 5: 130,282,919 (GRCm39) A3D possibly damaging Het
Sec23a T C 12: 59,031,953 (GRCm39) T426A probably benign Het
Sec31a T C 5: 100,551,929 (GRCm39) Y148C probably damaging Het
Shprh T A 10: 11,059,631 (GRCm39) probably benign Het
Slc16a7 A G 10: 125,066,742 (GRCm39) V299A probably benign Het
Smg8 T C 11: 86,974,439 (GRCm39) Y174C possibly damaging Het
Snx22 T A 9: 65,976,059 (GRCm39) Y58F probably damaging Het
Snx25 A G 8: 46,556,667 (GRCm39) Y308H probably benign Het
St3gal2 A G 8: 111,696,738 (GRCm39) probably null Het
Stab1 C T 14: 30,861,507 (GRCm39) R2500H possibly damaging Het
Stfa3 T A 16: 36,272,619 (GRCm39) probably benign Het
Tmprss9 C A 10: 80,735,157 (GRCm39) Q1095K probably benign Het
Top2a A G 11: 98,890,052 (GRCm39) V1217A possibly damaging Het
Trhr2 A G 8: 123,085,228 (GRCm39) probably null Het
Trim7 A G 11: 48,736,336 (GRCm39) E23G probably damaging Het
Trpv3 A T 11: 73,188,013 (GRCm39) E788V probably damaging Het
Ttn A G 2: 76,575,863 (GRCm39) I25010T probably damaging Het
Ube2ql1 T C 13: 69,887,419 (GRCm39) H14R unknown Het
Uggt1 C T 1: 36,235,052 (GRCm39) R419H probably benign Het
Xpo4 A G 14: 57,850,731 (GRCm39) V391A probably benign Het
Zfhx3 A G 8: 109,520,819 (GRCm39) D647G probably damaging Het
Zfp354c A T 11: 50,706,457 (GRCm39) M206K probably benign Het
Zfp804a A G 2: 82,089,264 (GRCm39) N1031S possibly damaging Het
Zfp868 A G 8: 70,064,882 (GRCm39) V151A probably benign Het
Other mutations in Steap4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00596:Steap4 APN 5 8,026,979 (GRCm39) missense probably damaging 1.00
IGL00827:Steap4 APN 5 8,026,712 (GRCm39) missense probably damaging 1.00
IGL01481:Steap4 APN 5 8,026,858 (GRCm39) missense probably damaging 0.98
IGL02378:Steap4 APN 5 8,026,741 (GRCm39) missense probably benign 0.00
IGL03058:Steap4 APN 5 8,025,664 (GRCm39) missense probably benign 0.00
PIT4362001:Steap4 UTSW 5 8,030,337 (GRCm39) missense probably benign 0.03
R0329:Steap4 UTSW 5 8,025,829 (GRCm39) missense possibly damaging 0.92
R0637:Steap4 UTSW 5 8,028,398 (GRCm39) splice site probably benign
R0638:Steap4 UTSW 5 8,027,030 (GRCm39) splice site probably benign
R0651:Steap4 UTSW 5 8,030,348 (GRCm39) nonsense probably null
R0881:Steap4 UTSW 5 8,030,388 (GRCm39) missense probably benign
R1167:Steap4 UTSW 5 8,026,520 (GRCm39) missense probably benign 0.34
R1543:Steap4 UTSW 5 8,025,902 (GRCm39) splice site probably benign
R1889:Steap4 UTSW 5 8,025,892 (GRCm39) missense probably damaging 1.00
R3803:Steap4 UTSW 5 8,026,979 (GRCm39) missense probably damaging 1.00
R3811:Steap4 UTSW 5 8,027,017 (GRCm39) missense probably benign 0.18
R3885:Steap4 UTSW 5 8,030,494 (GRCm39) missense probably damaging 1.00
R3887:Steap4 UTSW 5 8,030,494 (GRCm39) missense probably damaging 1.00
R4051:Steap4 UTSW 5 8,030,404 (GRCm39) missense probably damaging 1.00
R4208:Steap4 UTSW 5 8,030,404 (GRCm39) missense probably damaging 1.00
R5016:Steap4 UTSW 5 8,026,699 (GRCm39) nonsense probably null
R5302:Steap4 UTSW 5 8,025,547 (GRCm39) nonsense probably null
R5951:Steap4 UTSW 5 8,025,769 (GRCm39) missense probably benign 0.00
R6136:Steap4 UTSW 5 8,028,562 (GRCm39) missense probably damaging 0.99
R6527:Steap4 UTSW 5 8,028,502 (GRCm39) missense probably damaging 0.99
R6631:Steap4 UTSW 5 8,026,995 (GRCm39) nonsense probably null
R6964:Steap4 UTSW 5 8,025,568 (GRCm39) missense probably damaging 1.00
R7055:Steap4 UTSW 5 8,026,858 (GRCm39) missense probably damaging 1.00
R7408:Steap4 UTSW 5 8,028,453 (GRCm39) missense probably benign 0.07
R7692:Steap4 UTSW 5 8,026,976 (GRCm39) missense probably benign 0.32
R8205:Steap4 UTSW 5 8,026,795 (GRCm39) missense possibly damaging 0.65
R8861:Steap4 UTSW 5 8,025,672 (GRCm39) missense probably benign 0.00
R9287:Steap4 UTSW 5 8,026,683 (GRCm39) missense probably benign 0.05
R9423:Steap4 UTSW 5 8,026,720 (GRCm39) missense probably damaging 0.99
R9504:Steap4 UTSW 5 8,030,538 (GRCm39) missense probably benign 0.00
R9531:Steap4 UTSW 5 8,028,424 (GRCm39) missense probably benign 0.20
R9566:Steap4 UTSW 5 8,025,646 (GRCm39) missense possibly damaging 0.51
Predicted Primers PCR Primer
(F):5'- CCTGAGCTATTCGGAAGCAGCATC -3'
(R):5'- ACCCCAAGAAAGTTGTCCTTAGCAC -3'

Sequencing Primer
(F):5'- TGCACAGAGAGCACTATGATTC -3'
(R):5'- GAAAGTTGTCCTTAGCACAATGAG -3'
Posted On 2013-06-11