Incidental Mutation 'R3123:Hsd17b12'
ID |
264142 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hsd17b12
|
Ensembl Gene |
ENSMUSG00000027195 |
Gene Name |
hydroxysteroid (17-beta) dehydrogenase 12 |
Synonyms |
2610510O05Rik, keratoadhesin, KIK-I, keratonectin |
MMRRC Submission |
040596-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3123 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
93863042-93988254 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 93864303 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 268
(R268Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028619
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028619]
|
AlphaFold |
O70503 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028619
AA Change: R268Q
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000028619 Gene: ENSMUSG00000027195 AA Change: R268Q
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
24 |
N/A |
INTRINSIC |
Pfam:adh_short
|
51 |
248 |
1.5e-46 |
PFAM |
Pfam:KR
|
52 |
125 |
4.4e-7 |
PFAM |
Pfam:adh_short_C2
|
57 |
277 |
7.5e-10 |
PFAM |
low complexity region
|
298 |
312 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127084
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145967
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146580
|
Meta Mutation Damage Score |
0.0598 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
100% (46/46) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a very important 17beta-hydroxysteroid dehydrogenase (17beta-HSD) that converts estrone into estradiol in ovarian tissue. This enzyme is also involved in fatty acid elongation. [provided by RefSeq, Oct 2011] PHENOTYPE: Mice homozygous for a gene trap allele exhibit die around E8.5 with abnormal embryonic and extraembryonic tissue development. ES cells heterozygous for this allele exhibit reduced arachidonic acid levels. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ak9 |
A |
G |
10: 41,234,576 (GRCm39) |
I646V |
possibly damaging |
Het |
Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
Caskin2 |
T |
C |
11: 115,695,623 (GRCm39) |
D246G |
probably damaging |
Het |
Csn1s2b |
T |
C |
5: 87,966,917 (GRCm39) |
|
probably benign |
Het |
Ctsa |
T |
A |
2: 164,677,152 (GRCm39) |
|
probably null |
Het |
Cyp2j8 |
G |
A |
4: 96,389,450 (GRCm39) |
|
probably benign |
Het |
Dach2 |
T |
C |
X: 112,729,664 (GRCm39) |
I417T |
possibly damaging |
Het |
Dcaf8l |
A |
T |
X: 88,448,327 (GRCm39) |
Y601N |
probably benign |
Het |
Dhx9 |
T |
C |
1: 153,341,452 (GRCm39) |
K599E |
possibly damaging |
Het |
Duox2 |
A |
G |
2: 122,111,554 (GRCm39) |
|
probably benign |
Het |
F2rl3 |
T |
C |
8: 73,489,840 (GRCm39) |
S356P |
probably damaging |
Het |
Fem1b |
T |
C |
9: 62,703,836 (GRCm39) |
I475V |
probably benign |
Het |
Glra3 |
A |
G |
8: 56,578,244 (GRCm39) |
R434G |
possibly damaging |
Het |
Gpr75 |
T |
A |
11: 30,841,709 (GRCm39) |
S205T |
possibly damaging |
Het |
Htt |
T |
C |
5: 34,961,875 (GRCm39) |
S287P |
probably benign |
Het |
Ifi27l2b |
T |
C |
12: 103,417,594 (GRCm39) |
T198A |
unknown |
Het |
Kdm5d |
T |
C |
Y: 900,558 (GRCm39) |
V201A |
possibly damaging |
Het |
Khdrbs2 |
C |
A |
1: 32,558,858 (GRCm39) |
R408L |
probably damaging |
Het |
Lonp1 |
A |
G |
17: 56,933,488 (GRCm39) |
I129T |
possibly damaging |
Het |
Macc1 |
T |
C |
12: 119,411,368 (GRCm39) |
F712S |
probably damaging |
Het |
Mcpt8 |
A |
T |
14: 56,321,398 (GRCm39) |
I22K |
probably damaging |
Het |
Nop2 |
G |
A |
6: 125,109,164 (GRCm39) |
|
probably benign |
Het |
Or10ag53 |
A |
T |
2: 87,083,135 (GRCm39) |
T285S |
possibly damaging |
Het |
Or2l13 |
A |
G |
16: 19,305,765 (GRCm39) |
Y59C |
probably damaging |
Het |
Or2y3 |
G |
A |
17: 38,392,903 (GRCm39) |
|
probably null |
Het |
Pkd1l1 |
T |
A |
11: 8,923,021 (GRCm39) |
D82V |
unknown |
Het |
Polr2a |
A |
T |
11: 69,626,536 (GRCm39) |
S1566T |
possibly damaging |
Het |
Ppwd1 |
C |
T |
13: 104,350,198 (GRCm39) |
E396K |
possibly damaging |
Het |
Prr30 |
A |
G |
14: 101,436,425 (GRCm39) |
S46P |
probably benign |
Het |
Pthlh |
A |
T |
6: 147,164,789 (GRCm39) |
V27E |
probably damaging |
Het |
Ptpn4 |
A |
G |
1: 119,693,153 (GRCm39) |
|
probably null |
Het |
Rad18 |
A |
T |
6: 112,658,307 (GRCm39) |
D199E |
probably benign |
Het |
Ralgps1 |
T |
C |
2: 33,048,968 (GRCm39) |
T314A |
possibly damaging |
Het |
Rbm27 |
A |
G |
18: 42,460,230 (GRCm39) |
E764G |
probably damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Taf15 |
G |
A |
11: 83,395,154 (GRCm39) |
|
probably null |
Het |
Tas2r140 |
T |
A |
6: 133,032,204 (GRCm39) |
I185L |
probably benign |
Het |
Tgfbr2 |
G |
A |
9: 115,939,137 (GRCm39) |
T230M |
possibly damaging |
Het |
Tnpo1 |
GCACCTCTGCTTCCTC |
GCACCTCTGCTTCCTCACCTCTGCTTCCTC |
13: 99,003,637 (GRCm39) |
|
probably null |
Het |
Togaram1 |
G |
T |
12: 65,013,118 (GRCm39) |
R123L |
probably damaging |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Trim9 |
C |
T |
12: 70,295,167 (GRCm39) |
G648R |
probably damaging |
Het |
Upf1 |
A |
G |
8: 70,790,133 (GRCm39) |
|
probably benign |
Het |
Vmn2r109 |
C |
T |
17: 20,761,248 (GRCm39) |
C703Y |
probably damaging |
Het |
Zfp574 |
G |
T |
7: 24,781,026 (GRCm39) |
A683S |
possibly damaging |
Het |
Zfp777 |
A |
G |
6: 48,006,050 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Hsd17b12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00498:Hsd17b12
|
APN |
2 |
93,913,510 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00785:Hsd17b12
|
APN |
2 |
93,875,759 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02230:Hsd17b12
|
APN |
2 |
93,875,743 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02635:Hsd17b12
|
APN |
2 |
93,913,556 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03094:Hsd17b12
|
APN |
2 |
93,864,339 (GRCm39) |
missense |
probably damaging |
1.00 |
R0242:Hsd17b12
|
UTSW |
2 |
93,988,160 (GRCm39) |
missense |
probably benign |
0.14 |
R0242:Hsd17b12
|
UTSW |
2 |
93,988,160 (GRCm39) |
missense |
probably benign |
0.14 |
R0390:Hsd17b12
|
UTSW |
2 |
93,945,335 (GRCm39) |
splice site |
probably benign |
|
R0552:Hsd17b12
|
UTSW |
2 |
93,874,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R0605:Hsd17b12
|
UTSW |
2 |
93,863,987 (GRCm39) |
missense |
probably benign |
0.00 |
R1585:Hsd17b12
|
UTSW |
2 |
93,864,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R1681:Hsd17b12
|
UTSW |
2 |
93,863,906 (GRCm39) |
missense |
unknown |
|
R1922:Hsd17b12
|
UTSW |
2 |
93,875,737 (GRCm39) |
missense |
probably benign |
0.00 |
R2190:Hsd17b12
|
UTSW |
2 |
93,864,408 (GRCm39) |
missense |
probably benign |
0.02 |
R2384:Hsd17b12
|
UTSW |
2 |
93,863,964 (GRCm39) |
missense |
probably benign |
|
R3124:Hsd17b12
|
UTSW |
2 |
93,864,303 (GRCm39) |
missense |
probably benign |
0.03 |
R3125:Hsd17b12
|
UTSW |
2 |
93,864,303 (GRCm39) |
missense |
probably benign |
0.03 |
R4283:Hsd17b12
|
UTSW |
2 |
93,863,931 (GRCm39) |
missense |
unknown |
|
R5218:Hsd17b12
|
UTSW |
2 |
93,913,608 (GRCm39) |
missense |
probably benign |
0.02 |
R5357:Hsd17b12
|
UTSW |
2 |
93,863,990 (GRCm39) |
missense |
possibly damaging |
0.47 |
R6020:Hsd17b12
|
UTSW |
2 |
93,864,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R6493:Hsd17b12
|
UTSW |
2 |
93,874,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R7792:Hsd17b12
|
UTSW |
2 |
93,863,986 (GRCm39) |
missense |
probably benign |
0.00 |
R8769:Hsd17b12
|
UTSW |
2 |
93,945,397 (GRCm39) |
missense |
probably damaging |
0.97 |
R9651:Hsd17b12
|
UTSW |
2 |
93,988,081 (GRCm39) |
missense |
probably benign |
0.06 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAGCCTATCTGCCACCTTC -3'
(R):5'- TCCTAATCAATGGCATGTGTTGTC -3'
Sequencing Primer
(F):5'- AAAGCCTATCTGCCACCTTCTAATTC -3'
(R):5'- AATCAATGGCATGTGTTGTCTTTTC -3'
|
Posted On |
2015-02-05 |