Incidental Mutation 'R1345:Akr1c18'
| ID |
156472 |
| 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 |
039410-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R1345 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
4182614-4200645 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4195213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 82
(T82A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021635]
[ENSMUST00000110704]
|
| AlphaFold |
Q8K023 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021635
AA Change: T82A
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000021635
Gene: ENSMUSG00000021214
AA Change: T82A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
301 |
4.2e-54 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110704
AA Change: T82A
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106332
Gene: ENSMUSG00000021214
AA Change: T82A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
275 |
1.1e-50 |
PFAM |
|
| Meta Mutation Damage Score |
0.5096 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 92.3%
|
| Validation Efficiency |
100% (45/45) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001K19Rik |
C |
T |
12: 110,635,152 (GRCm39) |
V129I |
probably damaging |
Het |
| Alx1 |
A |
G |
10: 102,864,353 (GRCm39) |
S39P |
possibly damaging |
Het |
| Atr |
A |
G |
9: 95,802,408 (GRCm39) |
T1767A |
probably benign |
Het |
| Brf1 |
A |
T |
12: 112,924,728 (GRCm39) |
|
probably null |
Het |
| Cd86 |
A |
G |
16: 36,438,686 (GRCm39) |
|
probably null |
Het |
| Cdan1 |
A |
G |
2: 120,549,620 (GRCm39) |
|
probably null |
Het |
| Cntln |
A |
G |
4: 84,892,228 (GRCm39) |
D371G |
probably damaging |
Het |
| Cypt4 |
A |
G |
9: 24,536,515 (GRCm39) |
T2A |
possibly damaging |
Het |
| Dll1 |
G |
T |
17: 15,593,817 (GRCm39) |
Y183* |
probably null |
Het |
| Dnmt1 |
G |
T |
9: 20,819,814 (GRCm39) |
P1444Q |
probably damaging |
Het |
| Ern2 |
A |
G |
7: 121,776,993 (GRCm39) |
L309P |
probably damaging |
Het |
| Fam151a |
A |
G |
4: 106,599,491 (GRCm39) |
K142E |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,156,591 (GRCm39) |
E2378G |
probably damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Kdm5b |
A |
C |
1: 134,558,288 (GRCm39) |
T1432P |
possibly damaging |
Het |
| Kif2a |
G |
A |
13: 107,130,423 (GRCm39) |
S15F |
probably damaging |
Het |
| Lzic |
A |
G |
4: 149,571,308 (GRCm39) |
E31G |
probably damaging |
Het |
| Mmp16 |
A |
G |
4: 18,112,021 (GRCm39) |
M466V |
probably benign |
Het |
| Mtm1 |
T |
C |
X: 70,330,837 (GRCm39) |
V203A |
probably benign |
Het |
| Muc21 |
T |
A |
17: 35,932,489 (GRCm39) |
|
probably benign |
Het |
| Neurl4 |
A |
G |
11: 69,794,702 (GRCm39) |
M249V |
probably benign |
Het |
| Or6c76b |
T |
C |
10: 129,692,759 (GRCm39) |
I124T |
probably damaging |
Het |
| Plxna2 |
T |
C |
1: 194,326,794 (GRCm39) |
Y243H |
probably damaging |
Het |
| Rbm44 |
A |
G |
1: 91,080,481 (GRCm39) |
N223S |
probably damaging |
Het |
| Sel1l3 |
G |
T |
5: 53,357,559 (GRCm39) |
H144Q |
possibly damaging |
Het |
| Simc1 |
A |
ANNNNNNNNNNNNNNNNNNNNN |
13: 54,673,060 (GRCm39) |
|
probably benign |
Het |
| Snrpb2 |
A |
G |
2: 142,907,086 (GRCm39) |
|
probably benign |
Het |
| Spata31d1d |
T |
G |
13: 59,873,838 (GRCm39) |
K1232N |
possibly damaging |
Het |
| Spink5 |
A |
T |
18: 44,123,749 (GRCm39) |
E345D |
possibly damaging |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Tarbp1 |
T |
C |
8: 127,175,069 (GRCm39) |
D789G |
probably benign |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tmem232 |
T |
C |
17: 65,757,401 (GRCm39) |
N264S |
possibly damaging |
Het |
| Trim43b |
G |
C |
9: 88,967,725 (GRCm39) |
L303V |
possibly damaging |
Het |
| Tulp2 |
C |
A |
7: 45,168,145 (GRCm39) |
R298S |
probably benign |
Het |
| Usp42 |
A |
G |
5: 143,703,088 (GRCm39) |
V511A |
probably damaging |
Het |
| Vav1 |
A |
T |
17: 57,608,214 (GRCm39) |
T321S |
probably benign |
Het |
| Vmn1r169 |
A |
C |
7: 23,277,247 (GRCm39) |
H213P |
probably damaging |
Het |
| Vmn1r170 |
C |
T |
7: 23,305,787 (GRCm39) |
T63I |
probably benign |
Het |
| Vmn2r103 |
T |
G |
17: 20,014,509 (GRCm39) |
W434G |
probably damaging |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
| Zfp7 |
T |
C |
15: 76,774,908 (GRCm39) |
S317P |
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 |
|
R1006:Akr1c18
|
UTSW |
13 |
4,186,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- CCCCAACCATGTTCAATACTGAATGCAA -3'
(R):5'- CAGGCAACATCTCTTTACCTGGTCTTT -3'
Sequencing Primer
(F):5'- CTGAATGCAAAGTGTGACTATGC -3'
(R):5'- GATTCTAGACTCAGTCATACAGAGC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation