Mutagenetix > Incidental Mutation

Incidental Mutation 'R7982:Hsd17b11'

651257

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

046023-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7982 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104137631-104169662 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104151090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 215 (C215R)

Ref Sequence

ENSEMBL: ENSMUSP00000031251 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031251] [ENSMUST00000119025]

AlphaFold

Q9EQ06

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031251
AA Change: C215R

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000031251
Gene: ENSMUSG00000029311
AA Change: C215R

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

probably damaging
Transcript: ENSMUST00000119025
AA Change: C215R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113455
Gene: ENSMUSG00000029311
AA Change: C215R

Domain	Start	End	E-Value	Type
low complexity region	4	15	N/A	INTRINSIC
Pfam:adh_short	37	204	6.1e-31	PFAM
Pfam:KR	38	212	5.2e-11	PFAM
Pfam:adh_short_C2	43	228	3.6e-11	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	A	G	1: 75,150,284 (GRCm39)	S625P	probably damaging	Het
Actl6b	A	G	5: 137,561,424 (GRCm39)	N142S	probably benign	Het
Ank1	A	T	8: 23,609,397 (GRCm39)	D1363V	probably damaging	Het
Aox4	A	C	1: 58,296,400 (GRCm39)	L1032F	possibly damaging	Het
Atosb	T	C	4: 43,034,483 (GRCm39)	T371A	probably damaging	Het
Bcl2l15	T	C	3: 103,740,158 (GRCm39)	M4T	probably damaging	Het
Cand1	A	T	10: 119,052,378 (GRCm39)	S242R	probably damaging	Het
Cant1	A	T	11: 118,300,968 (GRCm39)	V229D	probably benign	Het
Ccdc117	A	G	11: 5,481,460 (GRCm39)	S224P	possibly damaging	Het
Cdc42ep4	T	C	11: 113,619,402 (GRCm39)	R330G	possibly damaging	Het
Cep164	T	C	9: 45,690,162 (GRCm39)	E527G	probably benign	Het
Cfap58	A	G	19: 47,963,006 (GRCm39)	D472G	probably benign	Het
Cln6	A	C	9: 62,756,450 (GRCm39)	K198T	possibly damaging	Het
Col4a4	G	A	1: 82,549,162 (GRCm39)		probably benign	Het
Cyp1b1	T	C	17: 80,017,919 (GRCm39)	Y412C	probably damaging	Het
Dhx30	A	T	9: 109,914,524 (GRCm39)	L991Q	probably damaging	Het
Dst	C	T	1: 34,221,621 (GRCm39)	T2475I	possibly damaging	Het
Exoc8	A	T	8: 125,623,149 (GRCm39)	V406E	probably damaging	Het
Grk6	T	A	13: 55,599,519 (GRCm39)	C201S	probably damaging	Het
Helz	T	C	11: 107,517,456 (GRCm39)	V664A	possibly damaging	Het
Ift25	T	C	4: 107,132,480 (GRCm39)	V89A	probably benign	Het
Kbtbd12	T	C	6: 88,595,616 (GRCm39)	I71M	possibly damaging	Het
Khdc1a	A	T	1: 21,421,130 (GRCm39)	H105L	probably benign	Het
Klf6	T	A	13: 5,911,822 (GRCm39)	L62Q	probably damaging	Het
Mc1r	A	G	8: 124,134,879 (GRCm39)	R211G	probably damaging	Het
Nt5m	T	A	11: 59,739,157 (GRCm39)	W68R	possibly damaging	Het
Nufip1	T	C	14: 76,363,679 (GRCm39)	V301A	probably benign	Het
Or10ac1	T	A	6: 42,515,225 (GRCm39)	T244S	probably damaging	Het
Or12d14-ps1	T	G	17: 37,673,502 (GRCm39)	F165V	probably damaging	Het
Or2b7	T	C	13: 21,740,136 (GRCm39)	N19D	probably benign	Het
Or51f5	A	T	7: 102,424,310 (GRCm39)	D193V	probably damaging	Het
Or5ac25	A	G	16: 59,181,927 (GRCm39)	I218T	probably benign	Het
Ostn	T	C	16: 27,140,189 (GRCm39)		probably null	Het
Pcdhb6	C	T	18: 37,467,273 (GRCm39)	R65*	probably null	Het
Pds5b	T	C	5: 150,693,406 (GRCm39)	I706T	probably damaging	Het
Pgm2	T	G	5: 64,258,302 (GRCm39)	Y96D	probably damaging	Het
Pkd1l2	G	A	8: 117,777,926 (GRCm39)	T875I	possibly damaging	Het
Poc1b	A	G	10: 99,000,764 (GRCm39)	S355G	probably benign	Het
Ppp6r1	A	C	7: 4,646,157 (GRCm39)	D181E	probably benign	Het
Pstpip2	G	A	18: 77,967,073 (GRCm39)	V325M	probably benign	Het
Rras2	A	T	7: 113,658,186 (GRCm39)	V92D	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Ryr3	GTCTTCTTCTTCTTCTTC	GTCTTCTTCTTCTTC	2: 112,499,594 (GRCm39)		probably benign	Het
Stac2	T	A	11: 97,933,379 (GRCm39)	M188L	probably benign	Het
Synrg	G	A	11: 83,910,644 (GRCm39)	D859N	probably damaging	Het
Tarbp1	A	T	8: 127,171,040 (GRCm39)	S987T	probably damaging	Het
Tbx20	C	A	9: 24,685,220 (GRCm39)		probably benign	Het
Trim30d	G	T	7: 104,121,817 (GRCm39)	N309K	possibly damaging	Het
Ttc16	C	T	2: 32,665,047 (GRCm39)		probably benign	Het
Ttc34	T	A	4: 154,945,875 (GRCm39)	I303N	possibly damaging	Het
Ubr4	T	C	4: 139,155,519 (GRCm39)		probably null	Het
Uros	A	T	7: 133,294,278 (GRCm39)	S168T	unknown	Het
Vmn2r6	C	T	3: 64,467,241 (GRCm39)	G86D	probably damaging	Het
Ybx2	C	T	11: 69,831,448 (GRCm39)	T295I	possibly damaging	Het
Zbed5	T	A	5: 129,929,321 (GRCm39)	C146S	possibly damaging	Het
Zcchc2	G	A	1: 105,958,901 (GRCm39)	C1124Y	probably damaging	Het
Zfp626	G	A	7: 27,510,175 (GRCm39)		probably null	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
R3951:Hsd17b11	UTSW	5	104,140,803 (GRCm39)	splice site	probably benign
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
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'- TGAAAGCATCAGGTATCAGGC -3'
(R):5'- ACTTAGGAATGAAGCTCTGCCC -3'

Sequencing Primer
(F):5'- CATCAGGTATCAGGCGGTTCAG -3'
(R):5'- TACACCAGGCCTGTGATTCAG -3'

Posted On

2020-09-15