Incidental Mutation 'R6136:Steap4'
ID 488342
Institutional Source Beutler Lab
Gene Symbol Steap4
Ensembl Gene ENSMUSG00000012428
Gene Name STEAP family member 4
Synonyms Tnfaip9, Tiarp
MMRRC Submission 044283-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R6136 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 8010472-8032213 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 8028562 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 380 (R380Q)
Ref Sequence ENSEMBL: ENSMUSP00000111081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115421]
AlphaFold Q923B6
Predicted Effect probably damaging
Transcript: ENSMUST00000115421
AA Change: R380Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111081
Gene: ENSMUSG00000012428
AA Change: R380Q

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 0.2708 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 98% (52/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik C A 4: 124,504,181 (GRCm39) G124C unknown Het
3425401B19Rik A T 14: 32,384,239 (GRCm39) D575E possibly damaging Het
Abca15 A T 7: 119,939,272 (GRCm39) H222L possibly damaging Het
Arhgef18 T C 8: 3,504,507 (GRCm39) V1013A probably benign Het
Arsj T C 3: 126,158,424 (GRCm39) M1T probably null Het
Atp10a A C 7: 58,478,088 (GRCm39) Q1377P probably benign Het
Atrip T A 9: 108,900,804 (GRCm39) E178D probably damaging Het
Cblif G A 19: 11,727,649 (GRCm39) A158T probably damaging Het
Chadl T C 15: 81,577,755 (GRCm39) N625D probably benign Het
Chrng G A 1: 87,137,523 (GRCm39) V320I probably benign Het
Cox11 T C 11: 90,535,221 (GRCm39) L84P probably damaging Het
Dchs1 T G 7: 105,410,132 (GRCm39) T1747P probably benign Het
Dnah12 A G 14: 26,597,227 (GRCm39) K3529E probably damaging Het
Ecd T C 14: 20,370,859 (GRCm39) N620S probably damaging Het
Fbn1 T A 2: 125,245,052 (GRCm39) K278N possibly damaging Het
Fcho2 T C 13: 98,926,275 (GRCm39) K103E probably damaging Het
Fzd7 T G 1: 59,522,419 (GRCm39) F101V probably damaging Het
Galnt13 G T 2: 54,406,491 (GRCm39) probably benign Het
Gm32647 C T 7: 94,124,939 (GRCm39) Het
Gm5624 A T 14: 44,797,333 (GRCm39) D152E probably benign Het
Heatr6 T A 11: 83,663,329 (GRCm39) V664E possibly damaging Het
Hpgd A G 8: 56,747,987 (GRCm39) D36G probably damaging Het
Ifnlr1 A G 4: 135,431,108 (GRCm39) T199A possibly damaging Het
Kalrn T G 16: 34,177,481 (GRCm39) D228A probably damaging Het
Miox T C 15: 89,219,524 (GRCm39) M47T probably damaging Het
Nampt A T 12: 32,880,301 (GRCm39) I65F probably benign Het
Ncf1 T C 5: 134,255,487 (GRCm39) K135E probably damaging Het
Nop53 G A 7: 15,672,314 (GRCm39) Q452* probably null Het
Or8u10 A G 2: 85,915,245 (GRCm39) L292S probably damaging Het
Pik3cg A G 12: 32,254,358 (GRCm39) V543A probably benign Het
Ralgds T C 2: 28,440,577 (GRCm39) probably null Het
Rap1a A G 3: 105,657,598 (GRCm39) V7A probably damaging Het
Rasal1 T C 5: 120,813,543 (GRCm39) V639A possibly damaging Het
Rassf8 A G 6: 145,761,382 (GRCm39) N236S probably benign Het
Rbm47 G C 5: 66,183,626 (GRCm39) R326G probably damaging Het
Sbno1 T C 5: 124,516,554 (GRCm39) D1272G probably benign Het
Setx A G 2: 29,038,039 (GRCm39) D1508G probably benign Het
Slc1a1 T A 19: 28,882,810 (GRCm39) L358Q probably damaging Het
Slc7a12 C A 3: 14,564,186 (GRCm39) L20I probably benign Het
Spata31g1 T C 4: 42,972,853 (GRCm39) S729P probably damaging Het
Spats2l C T 1: 57,941,302 (GRCm39) T187M probably damaging Het
Specc1l A G 10: 75,082,494 (GRCm39) D647G probably benign Het
Syne2 A G 12: 75,952,099 (GRCm39) S456G probably benign Het
Tfcp2 G T 15: 100,410,194 (GRCm39) T391N probably damaging Het
Tns2 T A 15: 102,015,465 (GRCm39) D122E probably damaging Het
Tshr A G 12: 91,505,008 (GRCm39) M649V probably benign Het
Ubr3 A G 2: 69,824,107 (GRCm39) T1440A probably benign Het
Urb2 A G 8: 124,756,831 (GRCm39) D846G probably benign Het
Vmn1r202 T C 13: 22,685,632 (GRCm39) T262A possibly damaging Het
Vmn2r61 G T 7: 41,916,455 (GRCm39) W356L probably damaging Het
Wdr11 T A 7: 129,220,427 (GRCm39) M605K possibly damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging 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
R0546:Steap4 UTSW 5 8,025,870 (GRCm39) missense probably damaging 0.99
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
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'- TCCCCTTGGAAGAGTAAAGTAGAAG -3'
(R):5'- ATCGAGTCTGCCTGTCAGTG -3'

Sequencing Primer
(F):5'- GAAGGAACATCCATTGTAATTGTTTC -3'
(R):5'- GTCTGAGTTCATTTTTCTGAGCGAAC -3'
Posted On 2017-10-10