Incidental Mutation 'IGL00432:Akr1c18'
| ID |
4350 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Akr1c18
|
| Ensembl Gene |
ENSMUSG00000021214 |
| Gene Name |
aldo-keto reductase family 1, member C18 |
| Synonyms |
20alpha-HSD, 20alpha-hydroxysteroid dehydrogenase |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
IGL00432
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
4182614-4200645 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4187232 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 168
(H168L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021635]
[ENSMUST00000110704]
|
| AlphaFold |
Q8K023 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021635
AA Change: H194L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021635
Gene: ENSMUSG00000021214
AA Change: H194L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
301 |
4.2e-54 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110704
AA Change: H168L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106332
Gene: ENSMUSG00000021214
AA Change: H168L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
275 |
1.1e-50 |
PFAM |
|
| 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 member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ), and the oxidation of 9alpha,11beta-PGF2 to PGD2. It may play an important role in the pathogenesis of allergic diseases such as asthma, and may also have a role in controlling cell growth and/or differentiation. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for mutations in this gene display prolonged pregnancies and decreased number of pups. Some cannot induce parturition while others are able to give birth but show a prolonged estrous cycle. [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 |
|---|
| AA986860 |
A |
T |
1: 130,670,573 (GRCm39) |
Q265L |
possibly damaging |
Het |
| Arid3b |
A |
G |
9: 57,741,207 (GRCm39) |
S80P |
possibly damaging |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Brd1 |
A |
C |
15: 88,614,361 (GRCm39) |
V178G |
probably benign |
Het |
| Brd2 |
C |
T |
17: 34,333,397 (GRCm39) |
R26Q |
probably damaging |
Het |
| Ddr2 |
T |
C |
1: 169,825,527 (GRCm39) |
M358V |
probably benign |
Het |
| Dnajc14 |
A |
G |
10: 128,642,201 (GRCm39) |
D41G |
probably damaging |
Het |
| Erap1 |
T |
G |
13: 74,821,778 (GRCm39) |
V711G |
probably benign |
Het |
| Gchfr |
A |
G |
2: 119,000,229 (GRCm39) |
R37G |
probably damaging |
Het |
| Gm20518 |
T |
A |
16: 17,676,362 (GRCm39) |
N136I |
probably damaging |
Het |
| Grm6 |
A |
T |
11: 50,754,124 (GRCm39) |
|
probably benign |
Het |
| Hydin |
T |
A |
8: 111,327,884 (GRCm39) |
V4797E |
probably damaging |
Het |
| Iws1 |
C |
A |
18: 32,217,741 (GRCm39) |
N448K |
probably benign |
Het |
| Lin7c |
T |
C |
2: 109,726,798 (GRCm39) |
|
probably benign |
Het |
| Lrrc40 |
T |
A |
3: 157,754,087 (GRCm39) |
L196Q |
probably damaging |
Het |
| Lrrtm2 |
C |
T |
18: 35,346,321 (GRCm39) |
G327D |
probably benign |
Het |
| Masp1 |
C |
T |
16: 23,332,601 (GRCm39) |
C78Y |
probably damaging |
Het |
| Mmd |
C |
T |
11: 90,155,360 (GRCm39) |
R101W |
probably damaging |
Het |
| Myo1d |
A |
G |
11: 80,492,566 (GRCm39) |
Y730H |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,126,914 (GRCm39) |
|
probably benign |
Het |
| Pglyrp4 |
G |
A |
3: 90,646,335 (GRCm39) |
V290M |
probably damaging |
Het |
| Plxna2 |
G |
A |
1: 194,326,404 (GRCm39) |
V113I |
probably benign |
Het |
| Prkch |
T |
A |
12: 73,749,363 (GRCm39) |
|
probably benign |
Het |
| Rabgef1 |
G |
T |
5: 130,237,565 (GRCm39) |
E213* |
probably null |
Het |
| Rdh16f2 |
T |
A |
10: 127,702,533 (GRCm39) |
C37S |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,215,125 (GRCm39) |
Y1109H |
probably damaging |
Het |
| Scn7a |
A |
T |
2: 66,572,326 (GRCm39) |
L215* |
probably null |
Het |
| Slc25a33 |
A |
T |
4: 149,829,376 (GRCm39) |
L261H |
probably damaging |
Het |
| Slc28a3 |
A |
T |
13: 58,717,225 (GRCm39) |
|
probably null |
Het |
| Slc38a6 |
T |
C |
12: 73,398,577 (GRCm39) |
I369T |
probably benign |
Het |
| Tgm4 |
A |
T |
9: 122,891,447 (GRCm39) |
|
probably benign |
Het |
| Tnr |
A |
G |
1: 159,688,815 (GRCm39) |
I426V |
probably benign |
Het |
| Vmn1r216 |
A |
G |
13: 23,283,574 (GRCm39) |
I86V |
probably benign |
Het |
| Wwc1 |
G |
A |
11: 35,735,029 (GRCm39) |
P949S |
possibly damaging |
Het |
| Zfp326 |
A |
T |
5: 106,044,399 (GRCm39) |
I286F |
probably damaging |
Het |
|
| Other mutations in Akr1c18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01458:Akr1c18
|
APN |
13 |
4,187,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0321:Akr1c18
|
UTSW |
13 |
4,185,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0514:Akr1c18
|
UTSW |
13 |
4,187,190 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0653:Akr1c18
|
UTSW |
13 |
4,195,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1006:Akr1c18
|
UTSW |
13 |
4,186,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1345:Akr1c18
|
UTSW |
13 |
4,195,213 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1656:Akr1c18
|
UTSW |
13 |
4,195,252 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1887:Akr1c18
|
UTSW |
13 |
4,193,287 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2015:Akr1c18
|
UTSW |
13 |
4,195,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2570:Akr1c18
|
UTSW |
13 |
4,192,163 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3951:Akr1c18
|
UTSW |
13 |
4,185,284 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4717:Akr1c18
|
UTSW |
13 |
4,186,717 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5414:Akr1c18
|
UTSW |
13 |
4,186,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5540:Akr1c18
|
UTSW |
13 |
4,187,178 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5723:Akr1c18
|
UTSW |
13 |
4,194,328 (GRCm39) |
nonsense |
probably null |
|
|
R6797:Akr1c18
|
UTSW |
13 |
4,195,276 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7343:Akr1c18
|
UTSW |
13 |
4,187,236 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7741:Akr1c18
|
UTSW |
13 |
4,194,332 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8181:Akr1c18
|
UTSW |
13 |
4,185,262 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8502:Akr1c18
|
UTSW |
13 |
4,192,188 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8688:Akr1c18
|
UTSW |
13 |
4,187,194 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9566:Akr1c18
|
UTSW |
13 |
4,195,203 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation