Incidental Mutation 'R4208:Steap4'
| ID |
319017 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Steap4
|
| Ensembl Gene |
ENSMUSG00000012428 |
| Gene Name |
STEAP family member 4 |
| Synonyms |
Tnfaip9, Tiarp |
| MMRRC Submission |
041037-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R4208 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
8010472-8032213 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 8030404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 420
(Y420C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111081
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115421]
|
| AlphaFold |
Q923B6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115421
AA Change: Y420C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111081
Gene: ENSMUSG00000012428
AA Change: Y420C
| 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 |
0.2041 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
100% (57/57) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
T |
C |
19: 31,910,060 (GRCm39) |
L284P |
probably benign |
Het |
| Abca8b |
G |
A |
11: 109,872,551 (GRCm39) |
Q17* |
probably null |
Het |
| Abcc6 |
A |
C |
7: 45,635,987 (GRCm39) |
L1020R |
probably damaging |
Het |
| Ace2 |
A |
G |
X: 162,952,581 (GRCm39) |
I110V |
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,071,840 (GRCm39) |
H128R |
probably benign |
Het |
| Aoc1l2 |
A |
T |
6: 48,908,581 (GRCm39) |
D527V |
probably damaging |
Het |
| Apol9a |
G |
C |
15: 77,288,596 (GRCm39) |
T257S |
probably benign |
Het |
| B4galnt3 |
A |
G |
6: 120,192,063 (GRCm39) |
S557P |
probably damaging |
Het |
| C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
| Casp12 |
T |
C |
9: 5,346,629 (GRCm39) |
L52P |
probably damaging |
Het |
| Cep126 |
C |
T |
9: 8,100,822 (GRCm39) |
E571K |
probably damaging |
Het |
| Cfhr1 |
A |
G |
1: 139,475,616 (GRCm39) |
|
probably benign |
Het |
| Cmah |
A |
G |
13: 24,601,410 (GRCm39) |
|
probably null |
Het |
| Col10a1 |
C |
T |
10: 34,271,539 (GRCm39) |
P504S |
probably damaging |
Het |
| Ctnna3 |
T |
A |
10: 64,795,557 (GRCm39) |
D758E |
probably benign |
Het |
| Cyp2c65 |
T |
C |
19: 39,079,099 (GRCm39) |
S393P |
probably damaging |
Het |
| Dclk2 |
A |
G |
3: 86,738,129 (GRCm39) |
|
probably null |
Het |
| Dis3 |
T |
G |
14: 99,332,752 (GRCm39) |
I227L |
probably benign |
Het |
| Efhc2 |
T |
C |
X: 17,096,789 (GRCm39) |
N186S |
possibly damaging |
Het |
| F13b |
G |
T |
1: 139,444,079 (GRCm39) |
W471L |
probably damaging |
Het |
| Fam181a |
A |
G |
12: 103,282,173 (GRCm39) |
D26G |
probably damaging |
Het |
| Gabpb2 |
A |
G |
3: 95,111,245 (GRCm39) |
|
probably benign |
Het |
| Gm7293 |
A |
G |
9: 51,534,879 (GRCm39) |
|
noncoding transcript |
Het |
| H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
| Ino80b |
G |
C |
6: 83,099,314 (GRCm39) |
P178R |
probably damaging |
Het |
| Kif3b |
G |
A |
2: 153,165,477 (GRCm39) |
R628Q |
probably damaging |
Het |
| Lars1 |
T |
C |
18: 42,362,768 (GRCm39) |
E557G |
probably benign |
Het |
| Ldlrad3 |
C |
T |
2: 101,783,507 (GRCm39) |
D240N |
probably damaging |
Het |
| Lingo2 |
T |
C |
4: 35,709,810 (GRCm39) |
I57V |
probably benign |
Het |
| Lsr |
A |
G |
7: 30,672,519 (GRCm39) |
I27T |
probably benign |
Het |
| Me2 |
T |
C |
18: 73,924,156 (GRCm39) |
K352R |
probably benign |
Het |
| Met |
T |
C |
6: 17,548,728 (GRCm39) |
V924A |
possibly damaging |
Het |
| Mpp3 |
T |
C |
11: 101,891,426 (GRCm39) |
T571A |
probably benign |
Het |
| Or4c1 |
A |
T |
2: 89,133,270 (GRCm39) |
I222N |
probably damaging |
Het |
| Or52n3 |
A |
G |
7: 104,530,810 (GRCm39) |
T299A |
probably damaging |
Het |
| Padi1 |
C |
A |
4: 140,544,538 (GRCm39) |
V552L |
possibly damaging |
Het |
| Pfkfb1 |
A |
T |
X: 149,405,184 (GRCm39) |
D208V |
possibly damaging |
Het |
| Rnase4 |
A |
G |
14: 51,342,462 (GRCm39) |
K62R |
probably benign |
Het |
| RP24-126A19.1 |
C |
A |
5: 146,832,606 (GRCm39) |
R123L |
noncoding transcript |
Het |
| Scn10a |
T |
A |
9: 119,445,842 (GRCm39) |
E1438V |
probably damaging |
Het |
| Sfmbt2 |
T |
A |
2: 10,547,793 (GRCm39) |
D458E |
probably damaging |
Het |
| Slitrk3 |
T |
A |
3: 72,958,490 (GRCm39) |
Y94F |
possibly damaging |
Het |
| Sstr2 |
A |
C |
11: 113,515,482 (GRCm39) |
T134P |
probably damaging |
Het |
| Tamm41 |
AGGG |
AGG |
6: 114,989,320 (GRCm39) |
|
probably benign |
Het |
| Trav7-3 |
A |
G |
14: 53,681,203 (GRCm39) |
T82A |
probably benign |
Het |
| Trbv23 |
A |
T |
6: 41,193,022 (GRCm39) |
I6F |
probably benign |
Het |
| Vmn1r87 |
A |
G |
7: 12,866,185 (GRCm39) |
V34A |
probably benign |
Het |
| Zc3h7a |
C |
T |
16: 10,982,508 (GRCm39) |
E6K |
possibly damaging |
Het |
| Zfp606 |
G |
A |
7: 12,228,102 (GRCm39) |
C683Y |
probably damaging |
Het |
|
| Other mutations in Steap4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- TACGTTTCATTGGCATGCAG -3'
(R):5'- GCCATGACAAGAGAAAATGCTTTC -3'
Sequencing Primer
(F):5'- TCATTGGCATGCAGTATTTCAC -3'
(R):5'- TACTGCAATAGTACACAAATCCTGG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation