Mutagenetix > Incidental Mutation

Incidental Mutation 'R3951:Hsd17b11'

307926

Institutional Source

Beutler Lab

Gene Symbol

Hsd17b11

Ensembl Gene

ENSMUSG00000029311

Gene Name

hydroxysteroid (17-beta) dehydrogenase 11

Synonyms

17beta-HSD11, Pan1b, Dhrs8, retSDR2

MMRRC Submission

040828-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3951 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104137631-104169662 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 104140803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031251 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031251]

AlphaFold

Q9EQ06

Predicted Effect

probably benign
Transcript: ENSMUST00000031251

SMART Domains

Protein: ENSMUSP00000031251
Gene: ENSMUSG00000029311

Domain	Start	End	E-Value	Type
low complexity region	4	15	N/A	INTRINSIC
Pfam:KR	37	212	3e-9	PFAM
Pfam:adh_short	37	233	6.8e-52	PFAM
Pfam:adh_short_C2	43	227	9.7e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122390

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Short-chain alcohol dehydrogenases, such as HSD17B11, metabolize secondary alcohols and ketones (Brereton et al., 2001 [PubMed 11165019]).[supplied by OMIM, Jun 2009]
PHENOTYPE: Homozygous mutant mice exhibit an increased mean serum IgG2a response to ovalbumin challenge and an increased mean percentage of immature B cells in bone marrow. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	C	10: 100,451,158 (GRCm39)		probably benign	Het
4932414N04Rik	T	C	2: 68,494,747 (GRCm39)		probably null	Het
Akr1c18	C	T	13: 4,185,284 (GRCm39)	V283I	probably benign	Het
Atp2b2	T	A	6: 113,737,792 (GRCm39)	M861L	possibly damaging	Het
Cdh23	T	C	10: 60,493,105 (GRCm39)	Y3C	probably benign	Het
Clspn	A	G	4: 126,470,172 (GRCm39)	E814G	probably damaging	Het
Csgalnact1	T	C	8: 68,913,914 (GRCm39)	Q97R	probably benign	Het
Dera	A	G	6: 137,814,118 (GRCm39)	Y100C	probably damaging	Het
Ect2	A	T	3: 27,184,269 (GRCm39)	D517E	probably benign	Het
Epha4	A	T	1: 77,376,353 (GRCm39)	Y509N	probably damaging	Het
Fat2	T	C	11: 55,187,208 (GRCm39)	T1213A	probably benign	Het
Fkbp8	T	A	8: 70,985,311 (GRCm39)	L275Q	probably damaging	Het
Gabrb2	A	G	11: 42,517,708 (GRCm39)	Y510C	probably damaging	Het
Gda	T	C	19: 21,449,809 (GRCm39)	T16A	probably benign	Het
Ggcx	G	A	6: 72,403,541 (GRCm39)	G363R	probably benign	Het
Gm527	T	G	12: 64,970,276 (GRCm39)		probably benign	Het
Hoxb2	A	G	11: 96,244,001 (GRCm39)	E204G	probably damaging	Het
Kat14	T	C	2: 144,249,249 (GRCm39)		probably benign	Het
Kif16b	C	T	2: 142,549,279 (GRCm39)	V1079I	probably benign	Het
Klhl29	T	A	12: 5,190,660 (GRCm39)	S112C	probably damaging	Het
Lpcat2	G	T	8: 93,591,531 (GRCm39)	M58I	probably benign	Het
Lrrc8d	G	T	5: 105,962,142 (GRCm39)	V851F	probably benign	Het
Ltbp3	T	C	19: 5,806,029 (GRCm39)	V929A	probably damaging	Het
Map3k20	T	G	2: 72,268,644 (GRCm39)	I550M	probably damaging	Het
Map3k9	T	C	12: 81,769,295 (GRCm39)	M941V	probably benign	Het
Myom2	A	T	8: 15,134,556 (GRCm39)	Y453F	probably benign	Het
Ncapd2	T	C	6: 125,163,747 (GRCm39)	K78E	probably damaging	Het
Ncor2	G	T	5: 125,109,320 (GRCm39)	D1496E	possibly damaging	Het
Ndnf	T	C	6: 65,680,125 (GRCm39)	Y135H	possibly damaging	Het
Ndst1	T	C	18: 60,830,211 (GRCm39)	N633S	probably benign	Het
Nmur2	G	C	11: 55,931,051 (GRCm39)	P220R	probably damaging	Het
Nsd1	G	C	13: 55,416,267 (GRCm39)	E1438Q	probably benign	Het
Or5al7	G	T	2: 85,992,962 (GRCm39)	C110*	probably null	Het
Or5w10	T	C	2: 87,375,409 (GRCm39)	T160A	probably damaging	Het
Or8g2	A	T	9: 39,822,021 (GRCm39)	R307S	probably benign	Het
Or9s23	T	A	1: 92,501,511 (GRCm39)	M206K	possibly damaging	Het
Pom121l2	T	G	13: 22,166,298 (GRCm39)	S190A	probably damaging	Het
Prb1b	G	A	6: 132,289,657 (GRCm39)	P56S	unknown	Het
Rtn4ip1	T	A	10: 43,785,893 (GRCm39)		probably null	Het
Scarb1	A	C	5: 125,364,475 (GRCm39)	C85G	probably damaging	Het
Sh2d4b	A	G	14: 40,594,503 (GRCm39)	I159T	probably damaging	Het
Skic3	T	G	13: 76,278,338 (GRCm39)	L551V	probably damaging	Het
Sntg1	C	T	1: 8,853,125 (GRCm39)		probably benign	Het
Sos1	G	A	17: 80,731,610 (GRCm39)	T630I	probably damaging	Het
Spata7	T	A	12: 98,635,732 (GRCm39)	D517E	probably damaging	Het
Tcaf1	T	C	6: 42,655,993 (GRCm39)	T328A	probably benign	Het
Ticrr	T	C	7: 79,331,817 (GRCm39)	L776S	probably damaging	Het
Trpc2	T	A	7: 101,742,781 (GRCm39)	M597K	probably damaging	Het
Tubb3	C	A	8: 124,148,003 (GRCm39)	T312N	probably damaging	Het
Ubr4	G	A	4: 139,120,405 (GRCm39)	V277M	probably damaging	Het
Uhrf2	G	A	19: 30,057,261 (GRCm39)	R473Q	probably damaging	Het
Vmn2r43	T	A	7: 8,258,319 (GRCm39)	H298L	probably benign	Het

Other mutations in Hsd17b11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03237:Hsd17b11	APN	5	104,151,036 (GRCm39)	makesense	probably null
R0681:Hsd17b11	UTSW	5	104,151,072 (GRCm39)	missense	probably benign	0.09
R0905:Hsd17b11	UTSW	5	104,157,744 (GRCm39)	missense	probably benign	0.05
R1611:Hsd17b11	UTSW	5	104,157,765 (GRCm39)	missense	probably benign	0.26
R4083:Hsd17b11	UTSW	5	104,138,434 (GRCm39)	missense	possibly damaging	0.53
R4913:Hsd17b11	UTSW	5	104,140,748 (GRCm39)	missense	probably benign	0.00
R5030:Hsd17b11	UTSW	5	104,151,158 (GRCm39)	missense	probably damaging	0.99
R5034:Hsd17b11	UTSW	5	104,166,087 (GRCm39)	missense	possibly damaging	0.72
R5965:Hsd17b11	UTSW	5	104,169,651 (GRCm39)	start gained	probably benign
R7844:Hsd17b11	UTSW	5	104,166,132 (GRCm39)	missense	probably damaging	1.00
R7982:Hsd17b11	UTSW	5	104,151,090 (GRCm39)	missense	possibly damaging	0.62
R8016:Hsd17b11	UTSW	5	104,169,526 (GRCm39)	missense	probably damaging	0.97
R8688:Hsd17b11	UTSW	5	104,169,584 (GRCm39)	missense	probably benign	0.13
R8705:Hsd17b11	UTSW	5	104,140,703 (GRCm39)	missense	probably benign
R8915:Hsd17b11	UTSW	5	104,140,802 (GRCm39)	critical splice acceptor site	probably null
R9779:Hsd17b11	UTSW	5	104,157,771 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACATGAACGTGTTGGCTTCC -3'
(R):5'- ATTGTAAAGCTTCAGCAGGAAC -3'

Sequencing Primer
(F):5'- GTTGGCTTCCAGTGCAGACAAAC -3'
(R):5'- GGTCCACAGCTGGCATTTACTAG -3'

Posted On

2015-04-17