Mutagenetix > Incidental Mutation

Incidental Mutation 'RF059:Hsdl2'

605349

Institutional Source

Beutler Lab

Gene Symbol

Hsdl2

Ensembl Gene

ENSMUSG00000028383

Gene Name

hydroxysteroid dehydrogenase like 2

Synonyms

2610207I16Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF059 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

59581563-59618689 bp(+) (GRCm39)

Type of Mutation

small insertion (6 aa in frame mutation)

DNA Base Change (assembly)

G to GCAGCAGCCACAGCTGCAA at 59610658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103152 (fasta)

Gene Model

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

AlphaFold

Q2TPA8

Predicted Effect

probably benign
Transcript: ENSMUST00000030078

SMART Domains

Protein: ENSMUSP00000030078
Gene: ENSMUSG00000028383

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

probably benign
Transcript: ENSMUST00000107528

SMART Domains

Protein: ENSMUSP00000103152
Gene: ENSMUSG00000028383

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: 99.7%
3x: 99.6%
10x: 99.2%
20x: 98.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	CTGTGGCTG	CTGTGGCTGGTGTGGCTG	1: 82,891,300 (GRCm39)		probably benign	Het
AY761185	CTGTGGGCACTT	CT	8: 21,433,930 (GRCm39)		probably null	Het
Cherp	GACCTGGA	G	8: 73,215,899 (GRCm39)		probably null	Het
Cpox	C	T	16: 58,491,130 (GRCm39)	R114C	probably benign	Het
Cyb5r4	GGGA	GGGATGTGACAGACACACTGCCCAAGGA	9: 86,922,498 (GRCm39)		probably benign	Het
Dnmt1	ACCTCGTT	ACCTCGTTTTGGGGGCGGAGCACAGTTCCTCCCTCGTT	9: 20,821,434 (GRCm39)		probably benign	Het
Dnmt1	CCTCGTT	CCTCGTTTTGGGGGCGGAGCACAGTTCCTATCTCGTT	9: 20,821,435 (GRCm39)		probably null	Het
Gab3	TCT	TCTGCT	X: 74,043,596 (GRCm39)		probably benign	Het
Gabre	TC	TCTGGCAC	X: 71,314,370 (GRCm39)		probably benign	Het
Klra2	GAAAGAAATCCA	GAAAGAAATCCAAAGAAATCCA	6: 131,198,801 (GRCm39)		probably null	Het
Kmt2c	CCTTCT	CCT	5: 25,518,477 (GRCm39)		probably benign	Het
Krtap28-10	CCACAGCCACCACAG	CCACAGCCACCACAGACACAGCCACCACAG	1: 83,019,996 (GRCm39)		probably benign	Het
Krtap28-10	C	CCACAGCCACCACAGA	1: 83,020,011 (GRCm39)		probably benign	Het
Lca5l	TGGCCCTGGCCCCGGCCC	TGGCCC	16: 95,960,501 (GRCm39)		probably benign	Het
Lce1m	GCTGCTGCCACCGCTGCTGCCACCGCTGCTGCCACAGCAACTGCTGCCACCGCTGCTGCCAC	GCTGCTGCCACCGCTGCTGCCAC	3: 92,925,636 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCGGC	X: 70,162,438 (GRCm39)		probably benign	Het
Mcph1	CTCT	CTCTTCT	8: 18,702,541 (GRCm39)		probably benign	Het
Sbp	GACAACAAAGATG	GACAACAAAGATGCTTACAACAAAGATG	17: 24,164,351 (GRCm39)		probably benign	Het
Sprr2b	ATGCTGTGAGCCTTGTCCTCCTCCAAAGTGC	ATGC	3: 92,224,875 (GRCm39)		probably benign	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
R8434:Hsdl2	UTSW	4	59,610,621 (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
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'- GCTTATACTGCCAAAACTTTAAGGC -3'
(R):5'- GGGACATAGTCTTCACCTGAG -3'

Sequencing Primer
(F):5'- CTGCCAAAACTTTAAGGCTCTTTATG -3'
(R):5'- GGACATAGTCTTCACCTGAGAGTTC -3'

Posted On

2019-12-04