Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00543:Rdh9'

4646

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rdh9

Ensembl Gene

ENSMUSG00000056148

Gene Name

retinol dehydrogenase 9

Synonyms

Crad3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00543

Quality Score

Status

Chromosome

Chromosomal Location

127612274-127628566 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127626853 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 302 (V302A)

Ref Sequence

ENSEMBL: ENSMUSP00000116574 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052652] [ENSMUST00000128247]

AlphaFold

Q8K5C8

Predicted Effect

probably benign
Transcript: ENSMUST00000052652
AA Change: V302A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000057732
Gene: ENSMUSG00000056148
AA Change: V302A

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:adh_short	30	220	3.1e-41	PFAM
Pfam:DUF1776	43	303	5.7e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128133

Predicted Effect

probably benign
Transcript: ENSMUST00000128247
AA Change: V302A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000116574
Gene: ENSMUSG00000099009
AA Change: V302A

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:adh_short	30	195	1.7e-23	PFAM
Pfam:DUF1776	43	303	3.3e-8	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and healthy, with no apparent alterations in tissue retinoid and serum dihydrotestosterone levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	A	G	2: 58,205,835 (GRCm39)	C42R	probably damaging	Het
Adamts1	T	C	16: 85,592,461 (GRCm39)	H649R	probably benign	Het
Capn3	T	C	2: 120,316,963 (GRCm39)		probably benign	Het
Cd44	T	C	2: 102,686,292 (GRCm39)	T135A	possibly damaging	Het
Cntnap5c	T	A	17: 58,601,345 (GRCm39)	I831N	probably benign	Het
Eprs1	G	T	1: 185,139,345 (GRCm39)	C910F	probably benign	Het
Epx	T	C	11: 87,760,751 (GRCm39)	R394G	probably damaging	Het
Hps5	T	C	7: 46,427,497 (GRCm39)	D338G	probably benign	Het
Ikbkg	T	C	X: 73,476,466 (GRCm39)	V14A	probably damaging	Het
Lrp1b	A	G	2: 41,358,960 (GRCm39)	F638L	possibly damaging	Het
Lyz3	G	T	10: 117,074,352 (GRCm39)	T45K	probably benign	Het
Mak	A	T	13: 41,209,189 (GRCm39)	Y87N	probably damaging	Het
Morc2a	T	A	11: 3,630,283 (GRCm39)	I493N	probably damaging	Het
Msl2	T	A	9: 100,978,269 (GRCm39)	H214Q	probably benign	Het
Myom3	A	C	4: 135,489,882 (GRCm39)	T18P	possibly damaging	Het
Ndst3	G	T	3: 123,465,912 (GRCm39)	T20N	probably damaging	Het
Nelfe	T	A	17: 35,072,592 (GRCm39)	S124T	possibly damaging	Het
Niban2	T	A	2: 32,802,483 (GRCm39)	F158Y	probably benign	Het
Nlgn1	T	G	3: 25,487,945 (GRCm39)	T797P	probably damaging	Het
Pcdh18	T	C	3: 49,707,828 (GRCm39)	D414G	probably damaging	Het
Pde4dip	T	C	3: 97,664,940 (GRCm39)	S386G	possibly damaging	Het
Ppig	T	A	2: 69,580,060 (GRCm39)	H531Q	unknown	Het
Ppm1n	T	C	7: 19,012,109 (GRCm39)	Y348C	probably benign	Het
Serpinb3b	A	G	1: 107,085,396 (GRCm39)		probably null	Het
Slc39a10	A	G	1: 46,858,217 (GRCm39)		probably benign	Het

Other mutations in Rdh9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01348:Rdh9	APN	10	127,612,661 (GRCm39)	missense	probably benign	0.07
IGL01474:Rdh9	APN	10	127,626,814 (GRCm39)	missense	probably damaging	1.00
R0659:Rdh9	UTSW	10	127,612,444 (GRCm39)	missense	possibly damaging	0.52
R4729:Rdh9	UTSW	10	127,612,621 (GRCm39)	missense	probably benign	0.02
R6139:Rdh9	UTSW	10	127,612,606 (GRCm39)	missense	possibly damaging	0.94
R6279:Rdh9	UTSW	10	127,612,627 (GRCm39)	missense	probably benign
R7870:Rdh9	UTSW	10	127,612,566 (GRCm39)	missense	probably benign

Posted On

2012-04-20