Incidental Mutation 'R3124:Hsd17b12'
| ID |
264184 |
| 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 |
040597-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3124 (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: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (40/40) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16b |
G |
A |
2: 181,136,319 (GRCm39) |
R407H |
possibly damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Cadm1 |
A |
G |
9: 47,710,775 (GRCm39) |
E226G |
possibly damaging |
Het |
| Caskin2 |
T |
C |
11: 115,695,623 (GRCm39) |
D246G |
probably damaging |
Het |
| Cd80 |
T |
A |
16: 38,294,255 (GRCm39) |
V46E |
probably damaging |
Het |
| Ctr9 |
C |
T |
7: 110,652,653 (GRCm39) |
R984C |
unknown |
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 |
| Drd3 |
T |
C |
16: 43,643,155 (GRCm39) |
F464L |
probably damaging |
Het |
| Dyrk1a |
G |
A |
16: 94,469,660 (GRCm39) |
|
probably benign |
Het |
| Fam227b |
T |
C |
2: 125,966,006 (GRCm39) |
T140A |
probably benign |
Het |
| Fam91a1 |
A |
G |
15: 58,293,738 (GRCm39) |
I101V |
probably benign |
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 |
| Iglc3 |
T |
C |
16: 18,884,345 (GRCm39) |
|
probably benign |
Het |
| Khdrbs2 |
C |
A |
1: 32,558,858 (GRCm39) |
R408L |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,518,774 (GRCm39) |
D1860G |
probably damaging |
Het |
| Mcpt8 |
A |
T |
14: 56,321,398 (GRCm39) |
I22K |
probably damaging |
Het |
| Myo1h |
A |
G |
5: 114,466,860 (GRCm39) |
I303V |
probably benign |
Het |
| Nipsnap2 |
G |
A |
5: 129,825,098 (GRCm39) |
|
probably null |
Het |
| Nop2 |
G |
A |
6: 125,109,164 (GRCm39) |
|
probably benign |
Het |
| Polr2a |
A |
T |
11: 69,626,536 (GRCm39) |
S1566T |
possibly damaging |
Het |
| Pthlh |
A |
T |
6: 147,164,789 (GRCm39) |
V27E |
probably damaging |
Het |
| Ralgps1 |
T |
C |
2: 33,048,968 (GRCm39) |
T314A |
possibly damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Skil |
A |
G |
3: 31,151,487 (GRCm39) |
N3S |
probably benign |
Het |
| Tas2r129 |
A |
G |
6: 132,928,411 (GRCm39) |
N116S |
probably damaging |
Het |
| Tas2r140 |
T |
A |
6: 133,032,204 (GRCm39) |
I185L |
probably benign |
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 |
| Trim12a |
G |
T |
7: 103,950,063 (GRCm39) |
T292K |
probably benign |
Het |
| Trim9 |
C |
T |
12: 70,295,167 (GRCm39) |
G648R |
probably damaging |
Het |
| Trmt13 |
T |
C |
3: 116,383,893 (GRCm39) |
I104V |
probably benign |
Het |
| Vav3 |
G |
A |
3: 109,535,484 (GRCm39) |
|
probably null |
Het |
| Vmn1r87 |
A |
G |
7: 12,865,493 (GRCm39) |
Y265H |
probably damaging |
Het |
| Zfp574 |
G |
T |
7: 24,781,026 (GRCm39) |
A683S |
possibly 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 |
|
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'- GAAAAGCCTATCTGCCACCTTC -3'
(R):5'- CTTCCTAATCAATGGCATGTGTTG -3'
Sequencing Primer
(F):5'- AAAGCCTATCTGCCACCTTCTAATTC -3'
(R):5'- AATCAATGGCATGTGTTGTCTTTTC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation