Incidental Mutation 'R5357:Hsd17b12'
| ID |
434526 |
| 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 |
042936-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5357 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
93863042-93988254 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93863990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 284
(I284T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028619
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028619]
|
| AlphaFold |
O70503 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028619
AA Change: I284T
PolyPhen 2
Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000028619
Gene: ENSMUSG00000027195
AA Change: I284T
| 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 |
- 1x: 98.9%
- 3x: 97.4%
- 10x: 94.5%
- 20x: 87.7%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
T |
C |
4: 137,182,463 (GRCm39) |
V206A |
possibly damaging |
Het |
| 5730522E02Rik |
A |
T |
11: 25,598,148 (GRCm39) |
C102* |
probably null |
Het |
| Brsk2 |
C |
A |
7: 141,538,248 (GRCm39) |
D131E |
possibly damaging |
Het |
| Cacng7 |
T |
C |
7: 3,387,452 (GRCm39) |
F112L |
probably benign |
Het |
| Ceacam12 |
T |
A |
7: 17,811,384 (GRCm39) |
C282* |
probably null |
Het |
| Dnm1 |
T |
C |
2: 32,226,253 (GRCm39) |
D312G |
probably null |
Het |
| Dyrk1b |
T |
C |
7: 27,884,743 (GRCm39) |
V326A |
possibly damaging |
Het |
| Eloa |
T |
C |
4: 135,736,559 (GRCm39) |
D563G |
probably benign |
Het |
| Evi5l |
A |
G |
8: 4,253,623 (GRCm39) |
K489R |
possibly damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Galntl6 |
T |
C |
8: 58,337,497 (GRCm39) |
E326G |
probably damaging |
Het |
| Gm1758 |
G |
A |
16: 14,320,218 (GRCm39) |
|
noncoding transcript |
Het |
| Grm8 |
A |
T |
6: 27,762,418 (GRCm39) |
L269Q |
probably damaging |
Het |
| Hyal6 |
T |
A |
6: 24,734,517 (GRCm39) |
M150K |
probably benign |
Het |
| Ift80 |
T |
A |
3: 68,898,113 (GRCm39) |
Q74L |
possibly damaging |
Het |
| Krt76 |
T |
C |
15: 101,795,820 (GRCm39) |
K450R |
probably benign |
Het |
| Larp1b |
A |
G |
3: 40,978,950 (GRCm39) |
E2G |
probably benign |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Map2k7 |
A |
T |
8: 4,294,461 (GRCm39) |
H253L |
probably damaging |
Het |
| Melk |
C |
T |
4: 44,363,730 (GRCm39) |
T592M |
probably damaging |
Het |
| Mmp2 |
A |
G |
8: 93,559,780 (GRCm39) |
T248A |
possibly damaging |
Het |
| Mt1 |
T |
A |
8: 94,906,732 (GRCm39) |
C33S |
probably damaging |
Het |
| Obox5 |
T |
A |
7: 15,491,463 (GRCm39) |
M1K |
probably null |
Het |
| Pak4 |
A |
G |
7: 28,263,831 (GRCm39) |
S302P |
probably damaging |
Het |
| Pcsk2 |
T |
C |
2: 143,415,384 (GRCm39) |
Y66H |
probably benign |
Het |
| Pgm3 |
G |
A |
9: 86,438,310 (GRCm39) |
R451* |
probably null |
Het |
| Phf10 |
A |
T |
17: 15,174,275 (GRCm39) |
|
probably null |
Het |
| Pkd1 |
T |
G |
17: 24,784,764 (GRCm39) |
V402G |
probably damaging |
Het |
| Plekha4 |
G |
T |
7: 45,184,195 (GRCm39) |
V61F |
probably damaging |
Het |
| Ppfia2 |
G |
A |
10: 106,740,708 (GRCm39) |
|
probably null |
Het |
| R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
| Skil |
A |
G |
3: 31,167,700 (GRCm39) |
H444R |
probably benign |
Het |
| Tcn2 |
T |
G |
11: 3,876,017 (GRCm39) |
D137A |
possibly damaging |
Het |
| Tnks2 |
G |
A |
19: 36,826,690 (GRCm39) |
|
silent |
Het |
| Trh |
T |
A |
6: 92,219,815 (GRCm39) |
D167V |
probably benign |
Het |
| Tshz1 |
C |
T |
18: 84,033,205 (GRCm39) |
G401D |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubqlnl |
T |
A |
7: 103,798,138 (GRCm39) |
Q453L |
probably damaging |
Het |
| Vmn2r111 |
T |
A |
17: 22,767,083 (GRCm39) |
K805* |
probably null |
Het |
| Wnt16 |
T |
G |
6: 22,291,231 (GRCm39) |
|
probably benign |
Het |
| Zc3h11a |
A |
T |
1: 133,550,780 (GRCm39) |
V665E |
probably damaging |
Het |
| Zfp456 |
A |
T |
13: 67,520,328 (GRCm39) |
M63K |
possibly damaging |
Het |
| Zzef1 |
C |
T |
11: 72,734,159 (GRCm39) |
Q584* |
probably null |
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 |
|
R4283:Hsd17b12
|
UTSW |
2 |
93,863,931 (GRCm39) |
missense |
unknown |
|
|
R5218:Hsd17b12
|
UTSW |
2 |
93,913,608 (GRCm39) |
missense |
probably benign |
0.02 |
|
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'- ACAGTGAAGACTCTGGGGAC -3'
(R):5'- GTGATCCACTCTCTCATGGTATGTAC -3'
Sequencing Primer
(F):5'- TGGGGACAGGCAGGTGC -3'
(R):5'- CTTAAACATATTTTCCAGTTTGGGC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation