Incidental Mutation 'R4283:Hsd17b12'
ID |
321938 |
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 |
041651-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4283 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
93863042-93988254 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 93863931 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 304
(R304G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028619
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028619]
|
AlphaFold |
O70503 |
Predicted Effect |
unknown
Transcript: ENSMUST00000028619
AA Change: R304G
|
SMART Domains |
Protein: ENSMUSP00000028619 Gene: ENSMUSG00000027195 AA Change: R304G
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 |
0.0869 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
100% (41/41) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030468B19Rik |
A |
G |
11: 117,697,087 (GRCm39) |
T229A |
probably benign |
Het |
Adgrg5 |
T |
G |
8: 95,664,326 (GRCm39) |
V312G |
probably benign |
Het |
Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
Camk2b |
A |
C |
11: 5,937,099 (GRCm39) |
S327A |
probably benign |
Het |
Card9 |
A |
G |
2: 26,247,309 (GRCm39) |
I280T |
possibly damaging |
Het |
Cd274 |
A |
T |
19: 29,357,871 (GRCm39) |
M188L |
probably benign |
Het |
Cga |
T |
C |
4: 34,905,264 (GRCm39) |
|
probably null |
Het |
Copg1 |
C |
T |
6: 87,885,527 (GRCm39) |
T723M |
probably damaging |
Het |
Cplx2 |
A |
G |
13: 54,527,377 (GRCm39) |
E87G |
probably damaging |
Het |
Crtc2 |
A |
G |
3: 90,166,543 (GRCm39) |
|
probably benign |
Het |
Defa27 |
A |
G |
8: 21,805,632 (GRCm39) |
N24S |
probably benign |
Het |
Defb40 |
A |
G |
8: 19,028,093 (GRCm39) |
S14P |
probably damaging |
Het |
Dnmt3a |
G |
A |
12: 3,951,665 (GRCm39) |
G681R |
probably damaging |
Het |
Ghr |
C |
A |
15: 3,362,930 (GRCm39) |
V181L |
possibly damaging |
Het |
Gm10750 |
A |
G |
2: 148,857,916 (GRCm39) |
F112L |
unknown |
Het |
Gm17541 |
A |
G |
12: 4,739,656 (GRCm39) |
|
probably benign |
Het |
Gmip |
T |
A |
8: 70,266,251 (GRCm39) |
|
probably benign |
Het |
Hdac10 |
A |
G |
15: 89,009,826 (GRCm39) |
L402P |
possibly damaging |
Het |
Iqgap3 |
T |
C |
3: 88,006,167 (GRCm39) |
V526A |
probably benign |
Het |
Ncaph |
A |
G |
2: 126,963,005 (GRCm39) |
|
probably benign |
Het |
Ninl |
T |
C |
2: 150,795,336 (GRCm39) |
|
probably benign |
Het |
Pcgf1 |
T |
A |
6: 83,056,714 (GRCm39) |
L90Q |
probably damaging |
Het |
Pcsk4 |
C |
A |
10: 80,165,287 (GRCm39) |
|
probably benign |
Het |
Ptpn21 |
T |
C |
12: 98,699,734 (GRCm39) |
E60G |
probably damaging |
Het |
Rec8 |
A |
G |
14: 55,856,091 (GRCm39) |
H11R |
probably damaging |
Het |
Ric1 |
A |
G |
19: 29,563,950 (GRCm39) |
Y568C |
probably damaging |
Het |
Slc17a6 |
A |
G |
7: 51,294,824 (GRCm39) |
Y177C |
probably damaging |
Het |
Tas2r104 |
C |
T |
6: 131,662,374 (GRCm39) |
A112T |
probably damaging |
Het |
Tas2r123 |
G |
A |
6: 132,825,008 (GRCm39) |
V302I |
possibly damaging |
Het |
Tas2r143 |
T |
A |
6: 42,378,007 (GRCm39) |
|
probably null |
Het |
Tfeb |
A |
G |
17: 48,100,699 (GRCm39) |
E305G |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Upf2 |
A |
G |
2: 5,978,369 (GRCm39) |
N411S |
unknown |
Het |
Vmn2r52 |
C |
T |
7: 9,904,565 (GRCm39) |
G425R |
possibly damaging |
Het |
Zfp28 |
A |
T |
7: 6,396,700 (GRCm39) |
Q378H |
probably benign |
Het |
Zfp429 |
A |
C |
13: 67,538,914 (GRCm39) |
C177G |
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 |
|
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 |
|
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 |
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'- GTATCCAGAATATATGTTAGGAGCCTC -3'
(R):5'- AGACCCGAACCACTGGATATG -3'
Sequencing Primer
(F):5'- CTCTAAAAGGAATTTGTTTTCTGCC -3'
(R):5'- CCGAACCACTGGATATGTGATC -3'
|
Posted On |
2015-06-20 |