Incidental Mutation 'IGL00785:Hsd17b12'
ID |
11348 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hsd17b12
|
Ensembl Gene |
ENSMUSG00000027195 |
Gene Name |
hydroxysteroid (17-beta) dehydrogenase 12 |
Synonyms |
2610510O05Rik, keratoadhesin, KIK-I, keratonectin |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00785
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
93863042-93988254 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 93875759 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 189
(S189P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028619
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028619]
|
AlphaFold |
O70503 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028619
AA Change: S189P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000028619 Gene: ENSMUSG00000027195 AA Change: S189P
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cpt1a |
T |
A |
19: 3,416,389 (GRCm39) |
N313K |
possibly damaging |
Het |
Crb2 |
G |
A |
2: 37,682,076 (GRCm39) |
C819Y |
probably damaging |
Het |
Ctnna3 |
T |
G |
10: 63,402,612 (GRCm39) |
F108V |
probably damaging |
Het |
Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
Fam120a |
A |
G |
13: 49,042,609 (GRCm39) |
S931P |
probably benign |
Het |
Ganc |
A |
C |
2: 120,272,079 (GRCm39) |
Y579S |
probably damaging |
Het |
Itprid2 |
A |
G |
2: 79,487,612 (GRCm39) |
E565G |
possibly damaging |
Het |
Kif11 |
C |
A |
19: 37,392,745 (GRCm39) |
L559I |
probably benign |
Het |
Kif11 |
T |
C |
19: 37,392,746 (GRCm39) |
L559P |
probably damaging |
Het |
Luc7l2 |
T |
C |
6: 38,575,721 (GRCm39) |
S261P |
possibly damaging |
Het |
Myo7a |
T |
C |
7: 97,703,555 (GRCm39) |
K2035E |
probably damaging |
Het |
Nbea |
A |
G |
3: 55,862,814 (GRCm39) |
S1813P |
probably benign |
Het |
Osbpl8 |
A |
G |
10: 111,108,905 (GRCm39) |
T396A |
probably benign |
Het |
Ppfibp2 |
A |
G |
7: 107,337,094 (GRCm39) |
T560A |
probably benign |
Het |
Rictor |
A |
C |
15: 6,806,431 (GRCm39) |
Q683P |
probably damaging |
Het |
Ryr3 |
A |
T |
2: 112,666,448 (GRCm39) |
H1519Q |
possibly damaging |
Het |
Slc34a2 |
A |
T |
5: 53,222,950 (GRCm39) |
I347F |
probably benign |
Het |
Sned1 |
C |
A |
1: 93,201,891 (GRCm39) |
|
probably benign |
Het |
St7l |
A |
G |
3: 104,780,895 (GRCm39) |
|
probably benign |
Het |
Trmu |
T |
A |
15: 85,767,032 (GRCm39) |
D80E |
probably benign |
Het |
Trpv4 |
A |
G |
5: 114,766,686 (GRCm39) |
V620A |
probably damaging |
Het |
Ubr2 |
G |
A |
17: 47,255,791 (GRCm39) |
T1370I |
possibly damaging |
Het |
Xpo5 |
T |
C |
17: 46,515,618 (GRCm39) |
V48A |
probably damaging |
Het |
Zfp638 |
T |
C |
6: 83,906,146 (GRCm39) |
W104R |
probably damaging |
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 |
|
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 |
|
R3123:Hsd17b12
|
UTSW |
2 |
93,864,303 (GRCm39) |
missense |
probably benign |
0.03 |
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 |
|
Posted On |
2012-12-06 |