Mutagenetix > Incidental Mutation

Incidental Mutation 'R8434:Hsdl2'

653886

Institutional Source

Beutler Lab

Gene Symbol

Hsdl2

Ensembl Gene

ENSMUSG00000028383

Gene Name

hydroxysteroid dehydrogenase like 2

Synonyms

2610207I16Rik

MMRRC Submission

067900-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8434 (G1)

Quality Score

153.008

Status

Not validated

Chromosome

Chromosomal Location

59581563-59618689 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59610621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 326 (Q326L)

Ref Sequence

ENSEMBL: ENSMUSP00000030078 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030078] [ENSMUST00000107528]

AlphaFold

Q2TPA8

Predicted Effect

unknown
Transcript: ENSMUST00000030078
AA Change: Q326L

SMART Domains

Protein: ENSMUSP00000030078
Gene: ENSMUSG00000028383
AA Change: Q326L

Domain	Start	End	E-Value	Type
Pfam:KR	11	142	6.3e-7	PFAM
Pfam:adh_short	11	209	2.9e-37	PFAM
Pfam:adh_short_C2	17	217	3.3e-11	PFAM
low complexity region	295	367	N/A	INTRINSIC
Pfam:SCP2	382	484	4.1e-28	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000107528
AA Change: Q206L

SMART Domains

Protein: ENSMUSP00000103152
Gene: ENSMUSG00000028383
AA Change: Q206L

Domain	Start	End	E-Value	Type
PDB:3KVO\|B	1	174	1e-98	PDB
low complexity region	175	247	N/A	INTRINSIC
Pfam:SCP2	262	364	2.5e-28	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,773,021 (GRCm39)	T737A	probably damaging	Het
2310034C09Rik	A	G	16: 88,556,260 (GRCm39)	Y158C	probably damaging	Het
Abhd18	T	A	3: 40,885,331 (GRCm39)	S239T	possibly damaging	Het
Ankrd13b	G	A	11: 77,368,552 (GRCm39)	T56I	probably benign	Het
Arhgef10l	T	A	4: 140,291,582 (GRCm39)	Q454L	possibly damaging	Het
Atp1a2	T	C	1: 172,112,179 (GRCm39)	E572G	probably benign	Het
Cdk5rap2	T	C	4: 70,282,257 (GRCm39)	H164R	probably benign	Het
Clca4b	A	G	3: 144,631,917 (GRCm39)	M196T	probably benign	Het
Cnbd1	T	G	4: 19,055,045 (GRCm39)	K127T	probably benign	Het
Cog3	A	T	14: 75,979,836 (GRCm39)	V165E	probably damaging	Het
Crim1	G	A	17: 78,654,686 (GRCm39)	R654H	probably benign	Het
Ctnnb1	G	A	9: 120,786,628 (GRCm39)	V617I	possibly damaging	Het
Dach1	T	A	14: 98,406,129 (GRCm39)	Q206L	probably damaging	Het
Dhx30	C	T	9: 109,929,974 (GRCm39)	V41I	probably benign	Het
Dnase2a	T	C	8: 85,636,410 (GRCm39)	L176P	probably damaging	Het
Dpp10	T	C	1: 123,360,739 (GRCm39)	D262G	probably damaging	Het
Dsel	T	A	1: 111,789,385 (GRCm39)	E383D	probably damaging	Het
Flt1	T	A	5: 147,576,253 (GRCm39)	Y585F	probably damaging	Het
Fubp1	T	A	3: 151,926,190 (GRCm39)	I304N	probably damaging	Het
Gab2	A	G	7: 96,948,337 (GRCm39)	D309G	probably damaging	Het
Gon4l	T	C	3: 88,762,086 (GRCm39)	V291A	probably damaging	Het
Gpam	C	T	19: 55,070,063 (GRCm39)	V398M	possibly damaging	Het
Grin3b	C	T	10: 79,810,422 (GRCm39)	R643C	probably damaging	Het
Hdac3	T	A	18: 38,074,475 (GRCm39)	H339L	possibly damaging	Het
Insr	T	C	8: 3,215,514 (GRCm39)		probably benign	Het
Ivl	T	A	3: 92,479,943 (GRCm39)	T41S	probably benign	Het
Lama4	C	T	10: 38,902,703 (GRCm39)	P226S	possibly damaging	Het
Lpin1	A	G	12: 16,613,621 (GRCm39)		probably null	Het
Lrrc42	A	T	4: 107,104,721 (GRCm39)	N81K	probably damaging	Het
Mast4	A	T	13: 102,897,900 (GRCm39)	H838Q	probably damaging	Het
Mcmdc2	A	G	1: 9,990,806 (GRCm39)	M314V	possibly damaging	Het
Me3	A	G	7: 89,389,086 (GRCm39)	E130G	probably damaging	Het
Mpnd	A	G	17: 56,316,405 (GRCm39)	D28G	possibly damaging	Het
Mtch2	G	T	2: 90,683,208 (GRCm39)	E102*	probably null	Het
Myh13	A	T	11: 67,254,011 (GRCm39)		probably null	Het
Or10ag55-ps1	G	A	2: 87,114,978 (GRCm39)	V115I	probably benign	Het
Or5ae2	C	A	7: 84,506,497 (GRCm39)	H309N	probably benign	Het
Plch2	T	A	4: 155,074,192 (GRCm39)	D891V	probably damaging	Het
Ppfibp2	T	C	7: 107,327,957 (GRCm39)		probably null	Het
Rag1	A	G	2: 101,473,009 (GRCm39)	L711P	probably damaging	Het
Sacs	T	A	14: 61,450,636 (GRCm39)	Y4227*	probably null	Het
Sec23ip	C	T	7: 128,352,151 (GRCm39)	H176Y	probably benign	Het
Sema3a	T	C	5: 13,523,487 (GRCm39)		probably null	Het
Serpina10	C	T	12: 103,594,563 (GRCm39)	G219R	probably damaging	Het
Sp1	C	T	15: 102,318,118 (GRCm39)	L546F	probably benign	Het
Syne1	T	C	10: 5,073,057 (GRCm39)	N1256S	probably benign	Het
Tbc1d5	G	T	17: 51,089,455 (GRCm39)		probably benign	Het
Tns1	T	C	1: 73,964,765 (GRCm39)	S33G	probably benign	Het
Tpsab1	A	G	17: 25,564,445 (GRCm39)	L3P	possibly damaging	Het
Trgv3	A	G	13: 19,427,036 (GRCm39)	T8A	probably benign	Het
Vav2	A	T	2: 27,159,050 (GRCm39)		probably benign	Het
Vmn1r44	T	C	6: 89,870,610 (GRCm39)	S119P	possibly damaging	Het
Vmn2r31	A	G	7: 7,387,699 (GRCm39)	L624P	probably damaging	Het
Vps33a	A	T	5: 123,671,944 (GRCm39)	W475R	possibly damaging	Het
Xpnpep3	G	T	15: 81,311,795 (GRCm39)	R167L	possibly damaging	Het
Zfhx4	T	A	3: 5,463,918 (GRCm39)	S1384T	probably damaging	Het
Zfp3	G	A	11: 70,663,384 (GRCm39)	E448K	probably benign	Het
Zfp362	T	A	4: 128,679,769 (GRCm39)	H299L	probably damaging	Het
Zfp664	C	T	5: 124,962,827 (GRCm39)	L74F	possibly damaging	Het
Zfp808	A	G	13: 62,319,926 (GRCm39)	Y385C	probably damaging	Het

Other mutations in Hsdl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00702:Hsdl2	APN	4	59,596,892 (GRCm39)	missense	probably benign	0.26
IGL00857:Hsdl2	APN	4	59,617,735 (GRCm39)	missense	probably benign	0.29
IGL01859:Hsdl2	APN	4	59,601,569 (GRCm39)	critical splice donor site	probably null
IGL02822:Hsdl2	APN	4	59,601,379 (GRCm39)	missense	possibly damaging	0.55
IGL03028:Hsdl2	APN	4	59,594,471 (GRCm39)	missense	probably damaging	0.98
IGL03275:Hsdl2	APN	4	59,617,747 (GRCm39)	makesense	probably null
R0217:Hsdl2	UTSW	4	59,597,311 (GRCm39)	missense	probably damaging	1.00
R0294:Hsdl2	UTSW	4	59,601,408 (GRCm39)	missense	probably benign	0.00
R0448:Hsdl2	UTSW	4	59,606,523 (GRCm39)	missense	unknown
R0490:Hsdl2	UTSW	4	59,612,814 (GRCm39)	splice site	probably benign
R1353:Hsdl2	UTSW	4	59,596,971 (GRCm39)	splice site	probably null
R1668:Hsdl2	UTSW	4	59,612,697 (GRCm39)	missense	probably damaging	1.00
R3933:Hsdl2	UTSW	4	59,597,274 (GRCm39)	missense	probably damaging	1.00
R4088:Hsdl2	UTSW	4	59,610,636 (GRCm39)	missense	unknown
R4247:Hsdl2	UTSW	4	59,594,417 (GRCm39)	missense	probably damaging	1.00
R4449:Hsdl2	UTSW	4	59,617,692 (GRCm39)	missense	possibly damaging	0.61
R4723:Hsdl2	UTSW	4	59,593,270 (GRCm39)	unclassified	probably benign
R4858:Hsdl2	UTSW	4	59,612,812 (GRCm39)	critical splice donor site	probably null
R5361:Hsdl2	UTSW	4	59,592,301 (GRCm39)	unclassified	probably benign
R6435:Hsdl2	UTSW	4	59,610,668 (GRCm39)	missense	unknown
R6525:Hsdl2	UTSW	4	59,612,696 (GRCm39)	missense	probably damaging	0.99
R6536:Hsdl2	UTSW	4	59,610,508 (GRCm39)	critical splice acceptor site	probably null
R7156:Hsdl2	UTSW	4	59,617,653 (GRCm39)	missense	possibly damaging	0.78
R7740:Hsdl2	UTSW	4	59,612,724 (GRCm39)	missense	probably damaging	0.99
R8087:Hsdl2	UTSW	4	59,592,228 (GRCm39)	missense	unknown
R9512:Hsdl2	UTSW	4	59,594,464 (GRCm39)	nonsense	probably null
RF005:Hsdl2	UTSW	4	59,610,652 (GRCm39)	small insertion	probably benign
RF013:Hsdl2	UTSW	4	59,610,657 (GRCm39)	small insertion	probably benign
RF015:Hsdl2	UTSW	4	59,610,640 (GRCm39)	small insertion	probably benign
RF016:Hsdl2	UTSW	4	59,610,643 (GRCm39)	small insertion	probably benign
RF020:Hsdl2	UTSW	4	59,610,640 (GRCm39)	small insertion	probably benign
RF023:Hsdl2	UTSW	4	59,610,644 (GRCm39)	small insertion	probably benign
RF025:Hsdl2	UTSW	4	59,610,637 (GRCm39)	small insertion	probably benign
RF026:Hsdl2	UTSW	4	59,610,655 (GRCm39)	small insertion	probably benign
RF028:Hsdl2	UTSW	4	59,610,650 (GRCm39)	nonsense	probably null
RF030:Hsdl2	UTSW	4	59,610,647 (GRCm39)	small insertion	probably benign
RF038:Hsdl2	UTSW	4	59,610,648 (GRCm39)	small insertion	probably benign
RF049:Hsdl2	UTSW	4	59,610,651 (GRCm39)	small insertion	probably benign
RF049:Hsdl2	UTSW	4	59,610,633 (GRCm39)	small insertion	probably benign
RF051:Hsdl2	UTSW	4	59,610,650 (GRCm39)	small insertion	probably benign
RF051:Hsdl2	UTSW	4	59,610,636 (GRCm39)	small insertion	probably benign
RF056:Hsdl2	UTSW	4	59,610,647 (GRCm39)	frame shift	probably null
RF059:Hsdl2	UTSW	4	59,610,658 (GRCm39)	small insertion	probably benign
RF060:Hsdl2	UTSW	4	59,610,608 (GRCm39)	small insertion	probably benign
RF061:Hsdl2	UTSW	4	59,610,657 (GRCm39)	small insertion	probably benign
Z1176:Hsdl2	UTSW	4	59,617,706 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTTTAGCATTCACAGCCACAGC -3'
(R):5'- CTTCCACAGCTCCAAAATGTG -3'

Sequencing Primer
(F):5'- ACAGCTGACATGGTTGGC -3'
(R):5'- CCAAAATGTGGTTTTTGTGGTAGC -3'

Posted On

2020-10-20