Incidental Mutation 'R2384:Hsd17b12'
| ID |
247630 |
| 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 |
040358-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2384 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
93863042-93988254 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 93863964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 293
(I293L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028619
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028619]
|
| AlphaFold |
O70503 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028619
AA Change: I293L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028619
Gene: ENSMUSG00000027195
AA Change: I293L
| 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 |
0.0624 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.5%
|
| Validation Efficiency |
100% (37/37) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 4933414I15Rik |
A |
G |
11: 50,833,333 (GRCm39) |
S90P |
unknown |
Het |
| Abca13 |
T |
C |
11: 9,217,450 (GRCm39) |
|
probably benign |
Het |
| Chpf |
C |
T |
1: 75,451,753 (GRCm39) |
R567H |
probably benign |
Het |
| Cnp |
A |
G |
11: 100,467,279 (GRCm39) |
Y74C |
probably damaging |
Het |
| Cul3 |
A |
T |
1: 80,261,406 (GRCm39) |
V273D |
probably damaging |
Het |
| Dnmt3a |
A |
G |
12: 3,951,591 (GRCm39) |
Y656C |
probably damaging |
Het |
| Erich3 |
A |
T |
3: 154,470,288 (GRCm39) |
E107V |
possibly damaging |
Het |
| Fscn2 |
T |
C |
11: 120,257,559 (GRCm39) |
S307P |
possibly damaging |
Het |
| Grm5 |
A |
G |
7: 87,251,936 (GRCm39) |
E62G |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,912,207 (GRCm39) |
Y394C |
probably benign |
Het |
| Hipk2 |
A |
G |
6: 38,795,306 (GRCm39) |
I314T |
probably damaging |
Het |
| Il36g |
A |
G |
2: 24,082,660 (GRCm39) |
H145R |
probably benign |
Het |
| Ints12 |
T |
A |
3: 132,814,864 (GRCm39) |
|
probably null |
Het |
| Khdrbs2 |
T |
C |
1: 32,558,976 (GRCm39) |
S369G |
probably damaging |
Het |
| Klrh1 |
T |
A |
6: 129,749,343 (GRCm39) |
H84L |
probably benign |
Het |
| Mup5 |
T |
A |
4: 61,753,261 (GRCm39) |
|
probably null |
Het |
| Nlrp4g |
A |
G |
9: 124,349,707 (GRCm38) |
|
noncoding transcript |
Het |
| Obscn |
A |
G |
11: 58,933,663 (GRCm39) |
|
probably null |
Het |
| Ogdh |
C |
A |
11: 6,292,526 (GRCm39) |
A413D |
probably damaging |
Het |
| Podn |
T |
C |
4: 107,879,269 (GRCm39) |
E283G |
probably damaging |
Het |
| Ripk1 |
A |
G |
13: 34,214,026 (GRCm39) |
D456G |
probably benign |
Het |
| Saxo4 |
A |
C |
19: 10,458,646 (GRCm39) |
|
probably null |
Het |
| Scg3 |
T |
C |
9: 75,573,008 (GRCm39) |
T308A |
probably damaging |
Het |
| Sele |
A |
G |
1: 163,878,344 (GRCm39) |
T228A |
probably benign |
Het |
| Slc41a3 |
A |
G |
6: 90,603,393 (GRCm39) |
E138G |
probably damaging |
Het |
| Tmem161a |
T |
C |
8: 70,630,204 (GRCm39) |
V104A |
probably benign |
Het |
| Tmem232 |
G |
A |
17: 65,709,852 (GRCm39) |
R479W |
probably damaging |
Het |
| Trim26 |
C |
T |
17: 37,161,781 (GRCm39) |
P67S |
probably damaging |
Het |
| Trpm8 |
A |
G |
1: 88,287,378 (GRCm39) |
Y787C |
probably benign |
Het |
| Ttc28 |
T |
A |
5: 111,424,074 (GRCm39) |
V1447D |
possibly damaging |
Het |
| Uaca |
G |
A |
9: 60,777,199 (GRCm39) |
A527T |
probably damaging |
Het |
| Ucp2 |
A |
G |
7: 100,147,461 (GRCm39) |
I172V |
probably benign |
Het |
| Zzef1 |
T |
A |
11: 72,749,220 (GRCm39) |
Y903N |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGCCAACTATGCCATGTTAG -3'
(R):5'- TGATCCACTCTCTCATGGTATGTAC -3'
Sequencing Primer
(F):5'- GCCAACTATGCCATGTTAGTAATTAC -3'
(R):5'- CTTAAACATATTTTCCAGTTTGGGC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation