Incidental Mutation 'R6797:Akr1c18'
| ID |
533062 |
| 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 |
044910-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R6797 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
4182614-4200645 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4195276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 61
(I61L)
|
| 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: I61L
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000021635
Gene: ENSMUSG00000021214
AA Change: I61L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
301 |
4.2e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110704
AA Change: I61L
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000106332
Gene: ENSMUSG00000021214
AA Change: I61L
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.8%
|
| Validation Efficiency |
100% (42/42) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl2 |
T |
C |
2: 33,118,277 (GRCm39) |
V17A |
probably benign |
Het |
| Casp14 |
T |
C |
10: 78,550,975 (GRCm39) |
D70G |
possibly damaging |
Het |
| Cckbr |
A |
G |
7: 105,083,773 (GRCm39) |
M234V |
possibly damaging |
Het |
| Cd93 |
T |
C |
2: 148,284,044 (GRCm39) |
N434S |
probably benign |
Het |
| Cenpe |
A |
T |
3: 134,943,899 (GRCm39) |
Q938L |
possibly damaging |
Het |
| Col6a3 |
A |
C |
1: 90,731,810 (GRCm39) |
V1481G |
probably damaging |
Het |
| Dnah5 |
G |
T |
15: 28,233,384 (GRCm39) |
E248* |
probably null |
Het |
| Dnah5 |
G |
A |
15: 28,451,609 (GRCm39) |
R4349Q |
probably damaging |
Het |
| F11 |
A |
G |
8: 45,706,092 (GRCm39) |
Y98H |
probably benign |
Het |
| Fen1 |
A |
G |
19: 10,178,067 (GRCm39) |
F126L |
probably benign |
Het |
| Gpr146 |
G |
A |
5: 139,378,795 (GRCm39) |
G199D |
possibly damaging |
Het |
| Gramd1b |
A |
G |
9: 40,219,702 (GRCm39) |
I324T |
probably benign |
Het |
| H2bc12 |
A |
T |
13: 22,220,259 (GRCm39) |
N68I |
probably benign |
Het |
| Hivep1 |
C |
A |
13: 42,310,557 (GRCm39) |
S932R |
probably benign |
Het |
| Hk3 |
A |
T |
13: 55,158,644 (GRCm39) |
|
probably null |
Het |
| Hspbp1 |
T |
A |
7: 4,663,781 (GRCm39) |
M355L |
possibly damaging |
Het |
| Jaml |
T |
C |
9: 45,000,058 (GRCm39) |
C77R |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,687,505 (GRCm39) |
N452D |
possibly damaging |
Het |
| Krt5 |
T |
C |
15: 101,621,076 (GRCm39) |
Y57C |
unknown |
Het |
| Lipn |
A |
T |
19: 34,058,160 (GRCm39) |
M294L |
probably benign |
Het |
| Magel2 |
A |
G |
7: 62,029,907 (GRCm39) |
E937G |
unknown |
Het |
| Med13l |
G |
A |
5: 118,897,329 (GRCm39) |
|
probably null |
Het |
| Mrgprb8 |
G |
A |
7: 48,038,892 (GRCm39) |
V188I |
probably benign |
Het |
| Ocln |
T |
C |
13: 100,676,223 (GRCm39) |
D90G |
probably damaging |
Het |
| Ofcc1 |
C |
T |
13: 40,241,423 (GRCm39) |
R695Q |
possibly damaging |
Het |
| Or11h23 |
T |
A |
14: 50,948,563 (GRCm39) |
Y259N |
probably damaging |
Het |
| Or52ab7 |
G |
A |
7: 102,978,328 (GRCm39) |
V212I |
probably benign |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Pak5 |
A |
T |
2: 135,939,454 (GRCm39) |
H560Q |
probably damaging |
Het |
| Pigg |
T |
C |
5: 108,480,694 (GRCm39) |
S493P |
probably damaging |
Het |
| Ppp6r3 |
A |
G |
19: 3,564,719 (GRCm39) |
W185R |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,450,522 (GRCm39) |
D4189E |
probably damaging |
Het |
| Serpinb9b |
A |
G |
13: 33,213,467 (GRCm39) |
N8S |
possibly damaging |
Het |
| Slit3 |
A |
G |
11: 35,524,779 (GRCm39) |
T730A |
possibly damaging |
Het |
| Srgap3 |
A |
T |
6: 112,806,503 (GRCm39) |
F53I |
probably damaging |
Het |
| Stc2 |
T |
A |
11: 31,315,351 (GRCm39) |
K163* |
probably null |
Het |
| Tasor2 |
T |
C |
13: 3,626,769 (GRCm39) |
I1060M |
probably benign |
Het |
| Tlk1 |
T |
A |
2: 70,568,770 (GRCm39) |
K411* |
probably null |
Het |
| Ttc27 |
G |
T |
17: 75,036,883 (GRCm39) |
L185F |
probably benign |
Het |
| Vmn2r102 |
C |
T |
17: 19,880,694 (GRCm39) |
Q12* |
probably null |
Het |
| Vmn2r95 |
C |
T |
17: 18,672,551 (GRCm39) |
|
probably benign |
Het |
| Vopp1 |
A |
G |
6: 57,739,492 (GRCm39) |
Y19H |
possibly damaging |
Het |
| Wdr64 |
T |
A |
1: 175,638,176 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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'- AGATGGCCAATAAGCACAATTC -3'
(R):5'- AAACTCAGTAAAACTTGGCTGG -3'
Sequencing Primer
(F):5'- TTCACCAAGTACAGGTTCAATTACAC -3'
(R):5'- GGCTGGATCCATTACTCCAAG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation