Incidental Mutation 'IGL01458:Akr1c18'
| ID |
84871 |
| 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: 0.079)
|
| Stock # |
IGL01458
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
4182614-4200645 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4187143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 198
(Y198N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021635]
[ENSMUST00000110704]
|
| AlphaFold |
Q8K023 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021635
AA Change: Y224N
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000021635
Gene: ENSMUSG00000021214
AA Change: Y224N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
301 |
4.2e-54 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110704
AA Change: Y198N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106332
Gene: ENSMUSG00000021214
AA Change: Y198N
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433N12Rik |
A |
T |
9: 3,134,008 (GRCm39) |
|
noncoding transcript |
Het |
| Akap12 |
A |
G |
10: 4,304,060 (GRCm39) |
E290G |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 52,933,601 (GRCm39) |
C364* |
probably null |
Het |
| Aurka |
T |
C |
2: 172,210,899 (GRCm39) |
|
probably benign |
Het |
| Bloc1s6 |
T |
A |
2: 122,586,135 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
| Csn2 |
T |
C |
5: 87,843,879 (GRCm39) |
|
probably benign |
Het |
| Dsc1 |
T |
C |
18: 20,232,195 (GRCm39) |
E271G |
probably damaging |
Het |
| Eif1ad4 |
A |
T |
12: 87,862,158 (GRCm39) |
K7* |
probably null |
Het |
| Evi5 |
G |
A |
5: 107,963,513 (GRCm39) |
A354V |
probably damaging |
Het |
| Fcer2a |
T |
A |
8: 3,738,151 (GRCm39) |
R137S |
probably benign |
Het |
| Fto |
A |
G |
8: 92,168,344 (GRCm39) |
T266A |
probably benign |
Het |
| Fzd4 |
G |
A |
7: 89,053,943 (GRCm39) |
V17I |
unknown |
Het |
| Gadd45b |
T |
C |
10: 80,767,075 (GRCm39) |
L105P |
probably damaging |
Het |
| Galntl6 |
T |
C |
8: 58,880,743 (GRCm39) |
S137G |
probably damaging |
Het |
| Gpr135 |
T |
C |
12: 72,116,442 (GRCm39) |
M442V |
probably benign |
Het |
| Kcnq1 |
T |
A |
7: 142,748,015 (GRCm39) |
Y330* |
probably null |
Het |
| Kdm5b |
A |
G |
1: 134,549,724 (GRCm39) |
R1106G |
possibly damaging |
Het |
| Lrrc8e |
C |
T |
8: 4,286,141 (GRCm39) |
R789W |
probably damaging |
Het |
| Myo16 |
T |
C |
8: 10,485,853 (GRCm39) |
L644P |
probably damaging |
Het |
| Nbeal1 |
G |
T |
1: 60,281,784 (GRCm39) |
|
probably null |
Het |
| Nlrp4c |
T |
C |
7: 6,103,783 (GRCm39) |
C906R |
possibly damaging |
Het |
| Or10ag56 |
C |
T |
2: 87,139,826 (GRCm39) |
T251I |
probably damaging |
Het |
| Or1e29 |
A |
T |
11: 73,667,532 (GRCm39) |
I207N |
probably benign |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,882,307 (GRCm39) |
N70D |
probably benign |
Het |
| Panx3 |
A |
T |
9: 37,572,443 (GRCm39) |
M369K |
probably damaging |
Het |
| Plet1 |
A |
G |
9: 50,406,017 (GRCm39) |
N52S |
probably benign |
Het |
| Prss1l |
T |
G |
6: 41,373,621 (GRCm39) |
D161E |
probably benign |
Het |
| Psg18 |
A |
T |
7: 18,088,741 (GRCm39) |
M1K |
probably null |
Het |
| Ptprz1 |
A |
T |
6: 22,972,843 (GRCm39) |
D251V |
probably damaging |
Het |
| Serpinb6a |
A |
G |
13: 34,114,064 (GRCm39) |
Y88H |
possibly damaging |
Het |
| Siglecf |
G |
A |
7: 43,004,562 (GRCm39) |
R297Q |
possibly damaging |
Het |
| Tbx15 |
T |
C |
3: 99,223,544 (GRCm39) |
V244A |
probably damaging |
Het |
| Top2a |
A |
T |
11: 98,901,856 (GRCm39) |
L458Q |
probably damaging |
Het |
| Trim39 |
A |
G |
17: 36,574,855 (GRCm39) |
|
probably benign |
Het |
| Vps37c |
T |
C |
19: 10,687,781 (GRCm39) |
C81R |
probably damaging |
Het |
| Wdr62 |
A |
T |
7: 29,941,187 (GRCm39) |
S744T |
probably benign |
Het |
| Zyg11a |
G |
A |
4: 108,062,099 (GRCm39) |
T234I |
probably damaging |
Het |
|
| Other mutations in Akr1c18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00432:Akr1c18
|
APN |
13 |
4,187,232 (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 |
2013-11-11 |
Incidental Mutation