Mutagenetix > Incidental Mutations

Incidental Mutation 'R7724:Rdh1'

595405

Institutional Source

Beutler Lab

Gene Symbol

Rdh1

Ensembl Gene

ENSMUSG00000089789

Gene Name

retinol dehydrogenase 1 (all trans)

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R7724 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127759721-127768297 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127764707 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 200 (K200E)

Ref Sequence

ENSEMBL: ENSMUSP00000073322 (fasta)

Gene Model

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

AlphaFold

Q8CGV4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073639
AA Change: K200E

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000073322
Gene: ENSMUSG00000089789
AA Change: K200E

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

probably benign
Transcript: ENSMUST00000128247

SMART Domains

Protein: ENSMUSP00000116574
Gene: ENSMUSG00000099009

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921530L21Rik	A	G	14: 95,882,250	N148D	possibly damaging	Het
9130401M01Rik	A	C	15: 58,022,461	S342A	probably benign	Het
Adarb2	C	A	13: 8,570,256	H259Q	probably benign	Het
Ak7	T	A	12: 105,716,030	I150N	probably damaging	Het
Arhgef12	A	T	9: 43,027,271	I75N	probably damaging	Het
Arhgef17	C	T	7: 100,880,609	G480S	probably damaging	Het
Atic	T	C	1: 71,564,901	Y208H	probably damaging	Het
Atp8b4	T	A	2: 126,322,893	N1168Y	possibly damaging	Het
Cdh15	G	T	8: 122,866,961	D765Y	probably damaging	Het
Celf4	C	T	18: 25,486,793		probably null	Het
Cep57l1	G	A	10: 41,745,842	T26M	possibly damaging	Het
Ces2g	T	A	8: 104,966,852	D388E	probably benign	Het
Cir1	T	C	2: 73,306,890	N69S	possibly damaging	Het
Ctc1	C	A	11: 69,026,344	H355N	probably benign	Het
Ebf2	A	T	14: 67,424,040	K539M	probably damaging	Het
Ehbp1	G	A	11: 22,089,572	H843Y	probably null	Het
Fat2	C	T	11: 55,284,796	G1697E	probably damaging	Het
Fga	A	G	3: 83,029,125	D76G	probably damaging	Het
Fn1	A	T	1: 71,603,735	S1786T	probably benign	Het
Frmpd1	A	T	4: 45,229,888	E18D	probably damaging	Het
Gbp8	A	T	5: 105,031,294	I113N	probably damaging	Het
Gm10549	A	T	18: 33,470,859	R132*	probably null	Het
Gmps	T	A	3: 63,985,653	D126E	possibly damaging	Het
Gria4	A	G	9: 4,472,074	Y472H	probably damaging	Het
Helz2	T	C	2: 181,231,996	Y2235C	probably damaging	Het
Hrnr	A	G	3: 93,323,016	N187S	unknown	Het
Ifit1bl1	T	C	19: 34,594,005	K351E	probably benign	Het
Klhl23	A	G	2: 69,824,712	T309A	probably benign	Het
Ldhal6b	A	G	17: 5,418,602	V19A	probably benign	Het
Lrrc59	C	T	11: 94,643,344	R243C	probably damaging	Het
Magi3	A	C	3: 104,015,927	I1158R	probably benign	Het
Mical2	T	A	7: 112,323,626	Y613N	probably damaging	Het
Myoc	T	A	1: 162,639,827		probably null	Het
Npas3	C	A	12: 54,068,341	S682Y	possibly damaging	Het
Ogdh	T	C	11: 6,324,887	V172A	probably benign	Het
Olfr1076	A	G	2: 86,508,605	T49A	probably damaging	Het
Olfr284	A	T	15: 98,340,894	S32T	possibly damaging	Het
Olfr325	T	A	11: 58,581,382	H179Q	probably benign	Het
Olfr584	T	A	7: 103,086,263	C243*	probably null	Het
Olfr682-ps1	A	G	7: 105,128,252	Y52H	probably damaging	Het
P2rx7	A	T	5: 122,673,373	I331F	probably benign	Het
Pcdhb14	A	T	18: 37,448,884	T348S	possibly damaging	Het
Prdx6b	A	G	2: 80,293,402	E185G	probably benign	Het
Sema6c	A	T	3: 95,173,199	R935W	probably damaging	Het
Serpinb5	A	T	1: 106,875,142	I136F	probably damaging	Het
Skint10	A	T	4: 112,765,092	Y31*	probably null	Het
St6galnac1	C	T	11: 116,766,072		probably null	Het
Synj1	G	A	16: 90,961,499	T819M	probably damaging	Het
Tacr3	T	A	3: 134,929,908	V291E	probably damaging	Het
Tdo2	A	G	3: 81,968,083		probably null	Het
Tex15	T	A	8: 33,546,263	D72E	possibly damaging	Het
Tph2	T	C	10: 115,079,822	T438A	probably benign	Het
Uaca	A	G	9: 60,869,905	T525A	probably benign	Het
Ulk1	A	T	5: 110,792,404	C384S	probably benign	Het
Uvrag	T	C	7: 98,991,963	D290G	probably benign	Het
Zfp541	T	C	7: 16,071,994	L18P	probably damaging	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
R3021:Rdh1	UTSW	10	127760208	missense	possibly damaging	0.91
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
R7873:Rdh1	UTSW	10	127760023	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TGCACCCGCCAAATACTGTG -3'
(R):5'- AGACTCAAGTTGGCTTTGTTCCC -3'

Sequencing Primer
(F):5'- TACTGTGCGGCATTCACAAG -3'
(R):5'- AAGTTGGCTTTGTTCCCCCAAAATC -3'

Posted On

2019-11-12