Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00702:Hsdl2'

11364

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00702

Quality Score

Status

Chromosome

Chromosomal Location

59581563-59618689 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59596892 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 57 (K57R)

Ref Sequence

ENSEMBL: ENSMUSP00000119139 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030078] [ENSMUST00000107528] [ENSMUST00000128792]

AlphaFold

Q2TPA8

Predicted Effect

unknown
Transcript: ENSMUST00000030078
AA Change: K142R

SMART Domains

Protein: ENSMUSP00000030078
Gene: ENSMUSG00000028383
AA Change: K142R

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: K22R

SMART Domains

Protein: ENSMUSP00000103152
Gene: ENSMUSG00000028383
AA Change: K22R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000128792
AA Change: K57R

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000119139
Gene: ENSMUSG00000028383
AA Change: K57R

Domain	Start	End	E-Value	Type
SCOP:d1hu4a_	9	122	1e-19	SMART
PDB:3KVO\|B	9	149	8e-83	PDB

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 8 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atm	A	G	9: 53,423,131 (GRCm39)	V665A	probably benign	Het
Fastkd1	C	T	2: 69,538,889 (GRCm39)	V166I	probably damaging	Het
Krt39	T	G	11: 99,409,889 (GRCm39)	Q216P	probably damaging	Het
Lifr	T	C	15: 7,215,220 (GRCm39)		probably null	Het
Ppp3cb	A	G	14: 20,578,318 (GRCm39)	V144A	probably benign	Het
Rmdn1	G	A	4: 19,605,421 (GRCm39)	S255N	probably damaging	Het
Rsph4a	A	T	10: 33,789,068 (GRCm39)	N638Y	probably damaging	Het
Ugt2b5	A	T	5: 87,273,078 (GRCm39)	N529K	probably benign	Het

Other mutations in Hsdl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-06