Mutagenetix > Incidental Mutation

Incidental Mutation 'R4653:Hsd17b13'

351465

Institutional Source

Beutler Lab

Gene Symbol

Hsd17b13

Ensembl Gene

ENSMUSG00000034528

Gene Name

hydroxysteroid (17-beta) dehydrogenase 13

Synonyms

Pan1b

MMRRC Submission

041913-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R4653 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104103308-104125254 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 104113702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 251 (L251F)

Ref Sequence

ENSEMBL: ENSMUSP00000046772 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048118] [ENSMUST00000112803] [ENSMUST00000120320]

AlphaFold

Q8VCR2

Predicted Effect

probably damaging
Transcript: ENSMUST00000048118
AA Change: L251F

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

SMART Domains

Protein: ENSMUSP00000046772
Gene: ENSMUSG00000034528
AA Change: L251F

Domain	Start	End	E-Value	Type
Pfam:KR	37	211	2e-12	PFAM
Pfam:adh_short	37	233	3.6e-48	PFAM
Pfam:adh_short_C2	43	217	5.7e-10	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112803
AA Change: L251F

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108422
Gene: ENSMUSG00000034528
AA Change: L251F

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
Pfam:adh_short	37	204	1.9e-29	PFAM
Pfam:KR	37	207	9.6e-14	PFAM
Pfam:adh_short_C2	43	218	7.5e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000120320
AA Change: L215F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113599
Gene: ENSMUSG00000034528
AA Change: L215F

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
Pfam:adh_short	66	168	3.3e-12	PFAM

Meta Mutation Damage Score

0.1256

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (66/68)

MGI Phenotype

PHENOTYPE: No notable phenotype was detected in a high-throughput phenotype screen of homozygous mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 78,903,264 (GRCm39)	T351A	probably benign	Het
3930402G23Rik	A	T	8: 10,976,075 (GRCm39)		noncoding transcript	Het
4933409G03Rik	G	A	2: 68,436,559 (GRCm39)	E168K	unknown	Het
Abca4	G	T	3: 121,932,230 (GRCm39)	E295*	probably null	Het
Abi3	T	C	11: 95,723,637 (GRCm39)	I215V	probably benign	Het
Adhfe1	G	T	1: 9,620,803 (GRCm39)		probably benign	Het
Akr1a1	A	G	4: 116,495,156 (GRCm39)		probably benign	Het
Ank	T	A	15: 27,590,447 (GRCm39)	W344R	probably null	Het
Cast	A	G	13: 74,894,133 (GRCm39)	S171P	probably benign	Het
Ccdc39	A	G	3: 33,873,955 (GRCm39)		probably null	Het
Cd180	T	A	13: 102,841,416 (GRCm39)	L154H	probably damaging	Het
Cnp	A	T	11: 100,467,342 (GRCm39)	D95V	probably benign	Het
Cul1	T	C	6: 47,461,897 (GRCm39)	I20T	probably damaging	Het
Dnah6	T	C	6: 73,050,440 (GRCm39)	K3042R	possibly damaging	Het
Dpy19l1	A	C	9: 24,393,350 (GRCm39)	S140A	possibly damaging	Het
Dpys	C	A	15: 39,656,642 (GRCm39)	R475L	probably damaging	Het
Dync1i2	A	G	2: 71,078,199 (GRCm39)	N276S	probably damaging	Het
Ext2	T	C	2: 93,526,504 (GRCm39)	S711G	probably benign	Het
Fancm	A	G	12: 65,129,828 (GRCm39)	Y223C	probably damaging	Het
Folh1	C	A	7: 86,393,633 (GRCm39)	G360*	probably null	Het
Garin5b	T	C	7: 4,761,054 (GRCm39)	R553G	possibly damaging	Het
Gcat	T	C	15: 78,919,487 (GRCm39)	S151P	probably damaging	Het
Gcm2	A	T	13: 41,256,317 (GRCm39)	D477E	probably benign	Het
Git1	A	G	11: 77,395,869 (GRCm39)	N468S	possibly damaging	Het
Gtf3c1	T	C	7: 125,273,272 (GRCm39)	I622V	probably benign	Het
Lamc1	T	G	1: 153,104,523 (GRCm39)	S59R	probably damaging	Het
Llgl1	A	G	11: 60,599,477 (GRCm39)	D486G	possibly damaging	Het
Lrrk1	T	C	7: 65,922,801 (GRCm39)	I1366V	probably benign	Het
Ly9	G	T	1: 171,421,597 (GRCm39)	H441Q	probably benign	Het
Mtcl2	A	G	2: 156,882,511 (GRCm39)	F514L	probably damaging	Het
Myo15b	G	A	11: 115,770,813 (GRCm39)		probably null	Het
Nomo1	G	T	7: 45,711,237 (GRCm39)	A639S	probably benign	Het
P3h2	T	C	16: 25,924,027 (GRCm39)	D136G	probably damaging	Het
Pde4dip	A	T	3: 97,674,654 (GRCm39)	D87E	probably damaging	Het
Pdpk1	A	T	17: 24,325,871 (GRCm39)	D108E	probably benign	Het
Pex26	C	T	6: 121,167,084 (GRCm39)	S231L	probably damaging	Het
Prpf38b	G	A	3: 108,811,408 (GRCm39)		probably benign	Het
Prpf4b	A	T	13: 35,083,954 (GRCm39)	M908L	probably benign	Het
Prps2	T	C	X: 166,135,288 (GRCm39)	D183G	probably damaging	Het
R3hdm1	T	C	1: 128,112,181 (GRCm39)	S422P	probably damaging	Het
Rhox2a	G	C	X: 36,508,962 (GRCm39)	R43P	probably benign	Het
Rps6-ps2	A	G	8: 89,533,319 (GRCm39)		noncoding transcript	Het
Ryr3	T	A	2: 112,483,108 (GRCm39)	N4213I	probably damaging	Het
Slc7a14	A	G	3: 31,311,831 (GRCm39)	V63A	probably damaging	Het
Sppl2a	C	T	2: 126,762,233 (GRCm39)		probably null	Het
Sspo	T	A	6: 48,455,580 (GRCm39)	W3077R	probably damaging	Het
Stag1	T	A	9: 100,678,769 (GRCm39)	M230K	probably damaging	Het
Sv2a	T	C	3: 96,098,078 (GRCm39)		probably null	Het
Themis2	A	G	4: 132,510,287 (GRCm39)	S638P	probably benign	Het
Trabd	A	G	15: 88,970,042 (GRCm39)	Y346C	probably damaging	Het
Trim38	A	T	13: 23,966,952 (GRCm39)	D133V	probably damaging	Het
Trmt1l	G	A	1: 151,315,320 (GRCm39)	V16I	probably benign	Het
Ube2b	A	G	11: 51,886,199 (GRCm39)		probably null	Het
Usp13	A	T	3: 32,892,073 (GRCm39)	Q84L	probably damaging	Het
Vmn1r172	G	T	7: 23,359,997 (GRCm39)	G294V	probably damaging	Het
Vmn2r59	A	T	7: 41,693,228 (GRCm39)	H457Q	probably benign	Het
Vmn2r63	A	G	7: 42,553,114 (GRCm39)	I714T	possibly damaging	Het
Vps8	T	C	16: 21,318,960 (GRCm39)	Y602H	probably damaging	Het
Zbp1	G	A	2: 173,049,608 (GRCm39)	P385S	possibly damaging	Het

Other mutations in Hsd17b13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03374:Hsd17b13	APN	5	104,124,964 (GRCm39)	splice site	probably benign
R1876:Hsd17b13	UTSW	5	104,116,633 (GRCm39)	missense	probably damaging	1.00
R4090:Hsd17b13	UTSW	5	104,113,720 (GRCm39)	missense	probably benign	0.07
R4604:Hsd17b13	UTSW	5	104,104,124 (GRCm39)	missense	unknown
R5899:Hsd17b13	UTSW	5	104,113,730 (GRCm39)	missense	probably benign	0.00
R7347:Hsd17b13	UTSW	5	104,116,616 (GRCm39)	missense	probably damaging	0.99
R7871:Hsd17b13	UTSW	5	104,113,681 (GRCm39)	missense	possibly damaging	0.60
R8288:Hsd17b13	UTSW	5	104,111,701 (GRCm39)	missense	probably benign	0.00
R8390:Hsd17b13	UTSW	5	104,120,512 (GRCm39)	missense	probably damaging	1.00
R8483:Hsd17b13	UTSW	5	104,125,049 (GRCm39)	missense	probably damaging	1.00
R8766:Hsd17b13	UTSW	5	104,125,009 (GRCm39)	missense	probably benign	0.06
R8857:Hsd17b13	UTSW	5	104,125,063 (GRCm39)	missense	probably damaging	1.00
R9313:Hsd17b13	UTSW	5	104,113,639 (GRCm39)	critical splice donor site	probably null
R9369:Hsd17b13	UTSW	5	104,125,034 (GRCm39)	missense	probably damaging	1.00
R9646:Hsd17b13	UTSW	5	104,124,973 (GRCm39)	missense	probably null	0.58
R9675:Hsd17b13	UTSW	5	104,111,709 (GRCm39)	missense	probably benign	0.10
Z1176:Hsd17b13	UTSW	5	104,116,571 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- TGGGCCAAGATGGTAGATGTATTC -3'
(R):5'- CAAGAGGCTGGGGTTTTACC -3'

Sequencing Primer
(F):5'- TGTATTCCAGAAAGGGTATCAGG -3'
(R):5'- ACCTCAACATCAGGGTATGTGTG -3'

Posted On

2015-10-08