Mutagenetix > Incidental Mutation

Incidental Mutation 'R1887:Akr1c18'

209675

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

039908-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R1887 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4182614-4200645 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4193287 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 126 (N126I)

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: N126I

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000021635
Gene: ENSMUSG00000021214
AA Change: N126I

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	18	301	4.2e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110704

SMART Domains

Protein: ENSMUSP00000106332
Gene: ENSMUSG00000021214

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	18	275	1.1e-50	PFAM

Coding Region Coverage

1x: 97.1%
3x: 96.1%
10x: 93.2%
20x: 86.9%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,853,909 (GRCm39)	I249M	possibly damaging	Het
1700102P08Rik	T	A	9: 108,270,809 (GRCm39)	D124E	possibly damaging	Het
4930544D05Rik	A	G	11: 70,507,249 (GRCm39)	E98G	probably damaging	Het
Abca8a	A	T	11: 109,980,768 (GRCm39)	M90K	probably damaging	Het
Adamts9	A	G	6: 92,849,769 (GRCm39)		probably null	Het
Adora3	A	C	3: 105,812,152 (GRCm39)	N13H	possibly damaging	Het
Aen	A	T	7: 78,557,073 (GRCm39)	D307V	probably damaging	Het
Ankmy2	T	A	12: 36,220,467 (GRCm39)	M51K	possibly damaging	Het
Antkmt	C	A	17: 26,010,319 (GRCm39)		probably null	Het
Apc	A	G	18: 34,405,521 (GRCm39)	E159G	probably damaging	Het
Arhgef28	G	T	13: 98,282,081 (GRCm39)	S4R	probably damaging	Het
Atg2b	G	A	12: 105,620,351 (GRCm39)	T784M	probably benign	Het
Atp11a	A	G	8: 12,862,324 (GRCm39)	N59D	probably damaging	Het
Cacna1h	T	C	17: 25,595,861 (GRCm39)	Y1875C	probably benign	Het
Capza1	A	T	3: 104,747,096 (GRCm39)		probably null	Het
Ccdc81	T	C	7: 89,515,819 (GRCm39)	E620G	possibly damaging	Het
Cdcp2	T	C	4: 106,959,899 (GRCm39)	F105L	probably damaging	Het
Cdhr18	A	C	14: 13,828,607 (GRCm38)	Y718D	probably damaging	Het
Cep152	A	T	2: 125,462,225 (GRCm39)	M58K	probably benign	Het
Comtd1	A	G	14: 21,897,809 (GRCm39)	L108P	probably damaging	Het
Cyp2b13	A	G	7: 25,788,075 (GRCm39)	Y401C	probably damaging	Het
Dap3	A	G	3: 88,838,281 (GRCm39)	L86P	probably damaging	Het
Dmxl1	G	A	18: 49,992,202 (GRCm39)	R316H	probably benign	Het
Eea1	T	A	10: 95,854,073 (GRCm39)		probably null	Het
Eeig1	T	A	2: 32,450,140 (GRCm39)	N129K	possibly damaging	Het
Ezhip	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 5,994,645 (GRCm39)		probably benign	Het
Fam171a1	T	C	2: 3,221,380 (GRCm39)	V157A	probably damaging	Het
Fat3	T	A	9: 15,878,357 (GRCm39)	I3375F	probably damaging	Het
Fmod	A	G	1: 133,968,551 (GRCm39)	E197G	possibly damaging	Het
Fsd1l	T	C	4: 53,696,984 (GRCm39)		probably null	Het
Gbp2b	A	G	3: 142,314,063 (GRCm39)	T448A	probably benign	Het
Gpatch1	A	T	7: 35,002,813 (GRCm39)	N232K	probably damaging	Het
H2-Q4	A	G	17: 35,599,113 (GRCm39)	R128G	possibly damaging	Het
Hc	T	C	2: 34,924,623 (GRCm39)	I435V	probably benign	Het
Hmgxb3	A	G	18: 61,270,473 (GRCm39)		probably null	Het
Il23r	A	T	6: 67,450,785 (GRCm39)	D231E	possibly damaging	Het
Irag1	A	G	7: 110,523,740 (GRCm39)		probably null	Het
Kcnt2	T	A	1: 140,511,985 (GRCm39)	S1023T	probably damaging	Het
Klc2	A	G	19: 5,158,640 (GRCm39)	V618A	probably benign	Het
Lzts1	T	C	8: 69,591,485 (GRCm39)	D221G	probably damaging	Het
Mdn1	G	C	4: 32,742,540 (GRCm39)	R3926P	probably damaging	Het
Med24	A	G	11: 98,609,642 (GRCm39)		probably benign	Het
Mga	T	A	2: 119,754,098 (GRCm39)	L869Q	probably damaging	Het
Mob3a	G	A	10: 80,527,068 (GRCm39)	Q86*	probably null	Het
Ncoa7	T	C	10: 30,524,448 (GRCm39)	N823S	possibly damaging	Het
Nlrp5	T	A	7: 23,116,909 (GRCm39)	V211D	probably damaging	Het
Nr1h4	A	T	10: 89,290,729 (GRCm39)	M433K	possibly damaging	Het
Ofcc1	T	C	13: 40,360,100 (GRCm39)	S310G	possibly damaging	Het
Or4k49	G	T	2: 111,495,099 (GRCm39)	S176I	probably damaging	Het
Or5p57	T	C	7: 107,665,985 (GRCm39)	N7D	probably benign	Het
Or8k22	A	G	2: 86,163,617 (GRCm39)	F28L	possibly damaging	Het
Pdlim7	C	T	13: 55,653,981 (GRCm39)	G212D	probably benign	Het
Pdzd4	G	A	X: 72,839,052 (GRCm39)	R419C	probably damaging	Het
Pik3cd	T	A	4: 149,737,091 (GRCm39)	I902F	probably damaging	Het
Pip5kl1	A	G	2: 32,468,517 (GRCm39)	T198A	probably damaging	Het
Prkdc	T	C	16: 15,647,499 (GRCm39)	V3641A	probably benign	Het
Rp1l1	T	C	14: 64,265,839 (GRCm39)	V475A	probably benign	Het
Rpl37	C	T	15: 5,148,072 (GRCm39)	T83M	possibly damaging	Het
Scml4	A	G	10: 42,788,223 (GRCm39)	Y51C	probably damaging	Het
Serinc5	A	T	13: 92,838,214 (GRCm39)	D340V	possibly damaging	Het
Stambpl1	A	G	19: 34,213,808 (GRCm39)	I346V	probably benign	Het
Syna	G	A	5: 134,588,106 (GRCm39)	S281L	probably benign	Het
Tcstv2a	G	T	13: 120,725,604 (GRCm39)	K89N	probably damaging	Het
Tet2	T	C	3: 133,193,094 (GRCm39)	T447A	possibly damaging	Het
Tgfbr3	A	G	5: 107,284,874 (GRCm39)	F592L	probably damaging	Het
Tmc7	A	T	7: 118,160,310 (GRCm39)	F176I	possibly damaging	Het
Trip4	T	A	9: 65,782,163 (GRCm39)	I190F	probably null	Het
Ttc6	T	A	12: 57,720,044 (GRCm39)	S872T	probably benign	Het
Ttc7b	C	T	12: 100,381,389 (GRCm39)		probably null	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Ubr4	T	C	4: 139,182,871 (GRCm39)	L419P	probably damaging	Het
Ush2a	C	A	1: 188,132,177 (GRCm39)	Q800K	probably benign	Het
Vmn2r115	T	C	17: 23,565,007 (GRCm39)	I298T	possibly damaging	Het
Vmn2r28	T	C	7: 5,491,288 (GRCm39)	T320A	possibly damaging	Het
Zfp804b	T	C	5: 6,820,376 (GRCm39)	R860G	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
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
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'- TTTTCAGTAACATTCAGGAGTTGG -3'
(R):5'- AAGGACTGTTGCTGAAAGCC -3'

Sequencing Primer
(F):5'- TTGTGCAGGCCTACTCAAAG -3'
(R):5'- GGACTGTTGCTGAAAGCCATCAC -3'

Posted On

2014-06-30