Mutagenetix > Incidental Mutations

Incidental Mutation 'R3021:Rdh1'

257747

Institutional Source

Beutler Lab

Gene Symbol

Rdh1

Ensembl Gene

ENSMUSG00000089789

Gene Name

retinol dehydrogenase 1 (all trans)

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R3021 (G1)

Quality Score

109

Status

Not validated

Chromosome

Chromosomal Location

127759721-127768297 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 127760208 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 91 (V91M)

Ref Sequence

ENSEMBL: ENSMUSP00000116574 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073639] [ENSMUST00000128247]

AlphaFold

Q8CGV4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073639
AA Change: V91M

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000073322
Gene: ENSMUSG00000089789
AA Change: V91M

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:adh_short	30	222	5.7e-43	PFAM
Pfam:DUF1776	43	303	3.3e-7	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000128247
AA Change: V91M

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116574
Gene: ENSMUSG00000099009
AA Change: V91M

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

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit increased body weight, adipose tissue, and retinol levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6v1c1	T	C	15: 38,689,216	V307A	possibly damaging	Het
Bahd1	C	T	2: 118,916,406	P169S	probably damaging	Het
Ccdc85a	T	C	11: 28,576,894	E210G	possibly damaging	Het
Dennd1c	C	T	17: 57,074,180		probably null	Het
Eng	T	C	2: 32,678,568	V474A	probably damaging	Het
Fam114a2	T	C	11: 57,499,799	D303G	probably benign	Het
Fat1	T	A	8: 45,044,011	C4178S	probably damaging	Het
Gm13119	T	A	4: 144,361,799	M55K	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Inpp4b	A	T	8: 81,902,838	E267D	possibly damaging	Het
Itch	A	G	2: 155,209,126	K578E	possibly damaging	Het
Mttp	T	C	3: 138,111,703	M444V	probably benign	Het
Olfr444	T	C	6: 42,956,184	S229P	possibly damaging	Het
Pgm3	A	T	9: 86,567,535	V144E	possibly damaging	Het
Ppp3cb	A	T	14: 20,523,853	Y271*	probably null	Het
Ptk2b	A	T	14: 66,178,183		probably null	Het
Slc15a4	A	G	5: 127,604,536		probably null	Het
Smad2	T	G	18: 76,262,632	S47R	probably damaging	Het
Smchd1	G	T	17: 71,387,098	S1217R	possibly damaging	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het

Other mutations in Rdh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02745:Rdh1	APN	10	127765419	missense	probably benign	0.06
R0077:Rdh1	UTSW	10	127760037	missense	probably damaging	1.00
R0481:Rdh1	UTSW	10	127763124	missense	probably damaging	1.00
R0511:Rdh1	UTSW	10	127764783	missense	probably benign
R0558:Rdh1	UTSW	10	127759941	missense	possibly damaging	0.88
R1569:Rdh1	UTSW	10	127763072	missense	probably benign
R1993:Rdh1	UTSW	10	127765345	missense	probably benign
R2164:Rdh1	UTSW	10	127760172	missense	possibly damaging	0.89
R5268:Rdh1	UTSW	10	127759963	missense	possibly damaging	0.67
R6126:Rdh1	UTSW	10	127763214	missense	probably damaging	1.00
R6216:Rdh1	UTSW	10	127764753	missense	probably benign	0.00
R7017:Rdh1	UTSW	10	127763037	missense	probably benign	0.02
R7332:Rdh1	UTSW	10	127759885	start gained	probably benign
R7397:Rdh1	UTSW	10	127760178	missense	probably benign	0.24
R7721:Rdh1	UTSW	10	127760252	critical splice donor site	probably null
R7724:Rdh1	UTSW	10	127764707	missense	possibly damaging	0.46
R7873:Rdh1	UTSW	10	127760023	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GCTTCTTTAGGGAGAGGCAG -3'
(R):5'- AGTACTCAGGTGATGTACTGGG -3'

Sequencing Primer
(F):5'- ACAAGTATGTCTTCATCACGGGC -3'
(R):5'- TACTGGGTTACTTCAGGGCCC -3'

Posted On

2015-01-11