Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02159:Hsdl1'

282374

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hsdl1

Ensembl Gene

ENSMUSG00000034189

Gene Name

hydroxysteroid dehydrogenase like 1

Synonyms

2700067E09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

IGL02159

Quality Score

Status

Chromosome

Chromosomal Location

120288728-120301922 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120293153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 73 (V73A)

Ref Sequence

ENSEMBL: ENSMUSP00000148641 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036049] [ENSMUST00000212065] [ENSMUST00000212198] [ENSMUST00000212517]

AlphaFold

Q8BTX9

Predicted Effect

probably benign
Transcript: ENSMUST00000036049
AA Change: V94A

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000044371
Gene: ENSMUSG00000034189
AA Change: V94A

Domain	Start	End	E-Value	Type
Pfam:adh_short	68	260	1.3e-37	PFAM
Pfam:adh_short_C2	74	256	3.2e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212065
AA Change: V73A

PolyPhen 2 Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000212198

Predicted Effect

probably benign
Transcript: ENSMUST00000212517
AA Change: V73A

PolyPhen 2 Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	C	10: 100,446,527 (GRCm39)	L257S	probably damaging	Het
Abca13	A	G	11: 9,264,545 (GRCm39)	S2976G	probably benign	Het
Afmid	T	C	11: 117,727,252 (GRCm39)	W267R	probably damaging	Het
Ahi1	A	G	10: 20,934,076 (GRCm39)	K969R	probably benign	Het
Aldh1l1	A	G	6: 90,571,638 (GRCm39)		probably benign	Het
Ank3	A	G	10: 69,644,722 (GRCm39)	H62R	probably damaging	Het
Arid2	T	C	15: 96,256,793 (GRCm39)		probably benign	Het
Caps2	G	A	10: 112,039,928 (GRCm39)	V457M	probably benign	Het
Capza1	T	C	3: 104,771,687 (GRCm39)	D3G	possibly damaging	Het
Cav1	T	A	6: 17,307,971 (GRCm39)	V41E	possibly damaging	Het
Celf2	G	T	2: 6,608,988 (GRCm39)	C264*	probably null	Het
Clec4a2	C	T	6: 123,116,285 (GRCm39)	S150L	probably benign	Het
D7Ertd443e	A	T	7: 133,951,129 (GRCm39)	D181E	possibly damaging	Het
Epyc	A	G	10: 97,506,493 (GRCm39)	E100G	probably benign	Het
Hdac11	A	G	6: 91,150,084 (GRCm39)	I294M	probably damaging	Het
Hrob	G	A	11: 102,150,991 (GRCm39)		probably null	Het
Kmt2c	A	T	5: 25,516,341 (GRCm39)	S2501T	probably benign	Het
Lrrc41	T	A	4: 115,945,683 (GRCm39)	F133I	probably benign	Het
Map3k19	C	A	1: 127,750,907 (GRCm39)	G815C	probably benign	Het
Muc13	C	A	16: 33,619,849 (GRCm39)	T199K	unknown	Het
Nif3l1	G	T	1: 58,487,105 (GRCm39)		probably null	Het
Nlrp12	A	T	7: 3,298,175 (GRCm39)		probably benign	Het
Nup205	T	C	6: 35,166,113 (GRCm39)	S244P	probably damaging	Het
Or7a37	A	T	10: 78,805,735 (GRCm39)	N84I	probably damaging	Het
Parl	G	A	16: 20,098,838 (GRCm39)		probably benign	Het
Pax8	A	G	2: 24,330,800 (GRCm39)	I211T	possibly damaging	Het
Pglyrp4	A	G	3: 90,638,160 (GRCm39)	E158G	possibly damaging	Het
Plekhm1	A	G	11: 103,271,057 (GRCm39)	L478P	probably benign	Het
Prss3b	T	C	6: 41,009,891 (GRCm39)	T148A	probably benign	Het
Serpina1a	C	T	12: 103,820,965 (GRCm39)	G338R	probably damaging	Het
Serpina5	T	C	12: 104,071,557 (GRCm39)	L388P	possibly damaging	Het
Sorbs1	A	G	19: 40,316,040 (GRCm39)	V367A	probably damaging	Het
Srgap2	A	G	1: 131,247,404 (GRCm39)		probably benign	Het
Surf1	A	G	2: 26,805,663 (GRCm39)	L26P	probably damaging	Het
Taf4	A	G	2: 179,580,263 (GRCm39)	S486P	probably benign	Het
Tdrd6	A	T	17: 43,939,281 (GRCm39)	V589E	probably damaging	Het
Tuba3b	T	G	6: 145,565,392 (GRCm39)	S287A	probably benign	Het
Txnrd3	G	A	6: 89,646,306 (GRCm39)	R295H	probably damaging	Het
Ubr5	G	T	15: 37,991,623 (GRCm39)		probably benign	Het
Unc45b	C	T	11: 82,831,007 (GRCm39)		probably benign	Het
Usp32	A	G	11: 84,896,628 (GRCm39)		probably null	Het
Utp23	G	A	15: 51,745,761 (GRCm39)	R87K	probably benign	Het
Vps8	T	C	16: 21,285,234 (GRCm39)	I405T	possibly damaging	Het

Other mutations in Hsdl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03349:Hsdl1	APN	8	120,292,436 (GRCm39)	missense	probably benign	0.41
R0106:Hsdl1	UTSW	8	120,292,517 (GRCm39)	missense	probably damaging	0.98
R0201:Hsdl1	UTSW	8	120,292,995 (GRCm39)	missense	possibly damaging	0.46
R0519:Hsdl1	UTSW	8	120,292,450 (GRCm39)	missense	probably damaging	0.97
R4976:Hsdl1	UTSW	8	120,292,606 (GRCm39)	missense	possibly damaging	0.75
R5119:Hsdl1	UTSW	8	120,292,606 (GRCm39)	missense	possibly damaging	0.75
R6799:Hsdl1	UTSW	8	120,293,169 (GRCm39)	missense	probably benign	0.00
R7096:Hsdl1	UTSW	8	120,293,064 (GRCm39)	missense	possibly damaging	0.91
R7198:Hsdl1	UTSW	8	120,294,607 (GRCm39)	missense	probably benign	0.00
R7328:Hsdl1	UTSW	8	120,292,830 (GRCm39)	missense	probably benign	0.33
R7810:Hsdl1	UTSW	8	120,294,711 (GRCm39)	missense	probably damaging	1.00
R7974:Hsdl1	UTSW	8	120,293,072 (GRCm39)	missense	probably benign	0.01
R8964:Hsdl1	UTSW	8	120,292,899 (GRCm39)	missense	probably benign	0.10
R9024:Hsdl1	UTSW	8	120,290,839 (GRCm39)	missense	probably benign	0.01
R9681:Hsdl1	UTSW	8	120,293,081 (GRCm39)	missense	possibly damaging	0.90

Posted On

2015-04-16