Incidental Mutation 'R1006:Akr1c18'
| ID |
95785 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akr1c18
|
| Ensembl Gene |
ENSMUSG00000021214 |
| Gene Name |
aldo-keto reductase family 1, member C18 |
| Synonyms |
20alpha-HSD, 20alpha-hydroxysteroid dehydrogenase |
| MMRRC Submission |
039116-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R1006 (G1)
|
| Quality Score |
199 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
4182614-4200645 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4186654 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 265
(I265V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021635
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021635]
[ENSMUST00000110704]
|
| AlphaFold |
Q8K023 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021635
AA Change: I265V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000021635
Gene: ENSMUSG00000021214
AA Change: I265V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
301 |
4.2e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110704
AA Change: I239V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106332
Gene: ENSMUSG00000021214
AA Change: I239V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
275 |
1.1e-50 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 97.8%
- 10x: 93.4%
- 20x: 82.9%
|
| Validation Efficiency |
100% (43/43) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
A |
T |
8: 71,911,085 (GRCm39) |
I282N |
probably benign |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,210,706 (GRCm39) |
I1788V |
probably benign |
Het |
| Cacng7 |
T |
A |
7: 3,415,445 (GRCm39) |
I270N |
possibly damaging |
Het |
| Ccdc81 |
C |
T |
7: 89,515,769 (GRCm39) |
E637K |
probably benign |
Het |
| Cnbd2 |
A |
G |
2: 156,170,328 (GRCm39) |
I138V |
possibly damaging |
Het |
| Cntnap5b |
A |
G |
1: 100,311,342 (GRCm39) |
K983E |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,383,331 (GRCm39) |
S1770P |
probably benign |
Het |
| Cpsf6 |
A |
T |
10: 117,201,973 (GRCm39) |
|
probably benign |
Het |
| Ctsc |
G |
A |
7: 87,959,037 (GRCm39) |
R439H |
probably damaging |
Het |
| Dcun1d1 |
A |
G |
3: 35,951,930 (GRCm39) |
|
probably benign |
Het |
| Flg2 |
A |
G |
3: 93,108,514 (GRCm39) |
I181V |
probably benign |
Het |
| Gbp2 |
A |
T |
3: 142,343,183 (GRCm39) |
S567C |
probably damaging |
Het |
| Gm5114 |
A |
G |
7: 39,058,510 (GRCm39) |
S370P |
probably damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,546,527 (GRCm39) |
V1018A |
probably benign |
Het |
| Kmt2a |
G |
A |
9: 44,758,993 (GRCm39) |
A952V |
probably damaging |
Het |
| Krt1 |
C |
T |
15: 101,756,326 (GRCm39) |
E340K |
possibly damaging |
Het |
| Lim2 |
T |
A |
7: 43,084,826 (GRCm39) |
I141N |
probably damaging |
Het |
| Nlrp4a |
T |
C |
7: 26,152,892 (GRCm39) |
V654A |
probably benign |
Het |
| Or5b24 |
T |
A |
19: 12,912,638 (GRCm39) |
C179S |
probably damaging |
Het |
| Prr14l |
T |
C |
5: 32,986,826 (GRCm39) |
S890G |
probably benign |
Het |
| Psmd14 |
T |
A |
2: 61,627,726 (GRCm39) |
|
probably null |
Het |
| Ptpn13 |
A |
G |
5: 103,734,655 (GRCm39) |
D2129G |
probably benign |
Het |
| Pum1 |
C |
T |
4: 130,499,199 (GRCm39) |
T760M |
probably damaging |
Het |
| Rif1 |
A |
G |
2: 51,975,041 (GRCm39) |
I317V |
probably damaging |
Het |
| Sh3bgrl2 |
C |
T |
9: 83,459,684 (GRCm39) |
|
probably benign |
Het |
| Slfn8 |
A |
T |
11: 82,894,337 (GRCm39) |
H767Q |
possibly damaging |
Het |
| Sned1 |
G |
A |
1: 93,184,114 (GRCm39) |
G114D |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Tenm3 |
A |
T |
8: 48,681,577 (GRCm39) |
D2684E |
probably damaging |
Het |
| Tet2 |
T |
C |
3: 133,182,362 (GRCm39) |
T1201A |
possibly damaging |
Het |
| Vax2 |
T |
C |
6: 83,714,759 (GRCm39) |
S225P |
probably damaging |
Het |
| Vcan |
A |
G |
13: 89,833,196 (GRCm39) |
|
probably null |
Het |
| Washc5 |
T |
A |
15: 59,241,035 (GRCm39) |
Q100L |
probably benign |
Het |
| Washc5 |
G |
T |
15: 59,241,036 (GRCm39) |
Q100K |
probably benign |
Het |
| Zc3h13 |
A |
G |
14: 75,567,989 (GRCm39) |
D1094G |
probably damaging |
Het |
| Zmiz1 |
A |
G |
14: 25,663,404 (GRCm39) |
Y1051C |
unknown |
Het |
| Zswim2 |
G |
A |
2: 83,745,737 (GRCm39) |
S567L |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAACCTAGACCTGCTGTGCTGAG -3'
(R):5'- TGGCTGCATTTGAGAATTCCTGGAC -3'
Sequencing Primer
(F):5'- CAGGGAGGATGCTGTGC -3'
(R):5'- cacacacacacacacacac -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation