Mutagenetix > Incidental Mutation

Incidental Mutation 'R1569:Rdh1'

177131

Institutional Source

Beutler Lab

Gene Symbol

Rdh1

Ensembl Gene

ENSMUSG00000089789

Gene Name

retinol dehydrogenase 1 (all trans)

Synonyms

MMRRC Submission

039608-MU

Accession Numbers

Essential gene?

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

Stock #

R1569 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127595595-127604168 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127598941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 141 (M141L)

Ref Sequence

ENSEMBL: ENSMUSP00000073322 (fasta)

Gene Model

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

AlphaFold

Q8CGV4

Predicted Effect

probably benign
Transcript: ENSMUST00000073639
AA Change: M141L

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

SMART Domains

Protein: ENSMUSP00000073322
Gene: ENSMUSG00000089789
AA Change: M141L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.3%

Validation Efficiency

96% (72/75)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,056,427 (GRCm39)	K166*	probably null	Het
Abca2	T	A	2: 25,329,197 (GRCm39)	N1012K	probably benign	Het
Ahnak	T	C	19: 8,981,458 (GRCm39)	V914A	possibly damaging	Het
Akap1	T	A	11: 88,724,006 (GRCm39)	M833L	probably benign	Het
Atp2b1	T	A	10: 98,823,188 (GRCm39)	H249Q	probably benign	Het
Atp6v0a4	A	G	6: 38,027,560 (GRCm39)	V750A	probably damaging	Het
Car6	T	C	4: 150,285,499 (GRCm39)	Y23C	probably damaging	Het
Celsr3	A	G	9: 108,706,267 (GRCm39)	T917A	probably damaging	Het
Clmn	C	A	12: 104,747,340 (GRCm39)	D736Y	probably damaging	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dennd4c	G	A	4: 86,704,331 (GRCm39)	R282H	possibly damaging	Het
Dsg1b	T	A	18: 20,529,537 (GRCm39)	N327K	probably damaging	Het
Eftud2	A	T	11: 102,745,597 (GRCm39)		probably benign	Het
Esyt1	G	T	10: 128,354,863 (GRCm39)	S512R	possibly damaging	Het
Fam124b	T	C	1: 80,190,852 (GRCm39)	Y177C	possibly damaging	Het
Fbxl5	A	T	5: 43,922,803 (GRCm39)	I205K	probably damaging	Het
Fcrl1	A	G	3: 87,292,012 (GRCm39)	Y57C	probably damaging	Het
Gabpb1	A	T	2: 126,494,171 (GRCm39)	D151E	probably benign	Het
Gcc2	C	T	10: 58,105,993 (GRCm39)	L310F	probably benign	Het
Hsd11b1	C	G	1: 192,922,635 (GRCm39)	E141Q	probably damaging	Het
Htr1b	A	G	9: 81,514,340 (GRCm39)	V89A	probably benign	Het
Ibsp	A	T	5: 104,458,017 (GRCm39)	T185S	probably damaging	Het
Igfn1	T	C	1: 135,896,771 (GRCm39)	D1265G	probably benign	Het
Ints9	T	C	14: 65,217,571 (GRCm39)	Y33H	possibly damaging	Het
Kif1a	A	T	1: 92,986,532 (GRCm39)		probably benign	Het
Lama1	A	T	17: 68,087,613 (GRCm39)		probably null	Het
Lbp	A	T	2: 158,161,607 (GRCm39)	D223V	probably damaging	Het
Lck	C	A	4: 129,449,449 (GRCm39)	D283Y	probably damaging	Het
Lcmt2	A	G	2: 120,970,309 (GRCm39)	F258S	probably damaging	Het
Lsg1	G	T	16: 30,399,823 (GRCm39)		probably null	Het
Maip1	T	C	1: 57,452,554 (GRCm39)		probably benign	Het
Mark3	T	G	12: 111,600,180 (GRCm39)	I465S	probably benign	Het
Marveld2	C	T	13: 100,737,506 (GRCm39)	V128I	probably benign	Het
Mcm3ap	A	G	10: 76,319,022 (GRCm39)	H750R	possibly damaging	Het
Mdn1	A	T	4: 32,723,501 (GRCm39)	Q2479L	probably null	Het
Met	A	T	6: 17,531,503 (GRCm39)	K594*	probably null	Het
Pak2	G	T	16: 31,856,113 (GRCm39)	S241R	probably damaging	Het
Plxna4	T	C	6: 32,162,410 (GRCm39)	I1368V	possibly damaging	Het
Pparg	T	C	6: 115,416,960 (GRCm39)	I51T	probably benign	Het
Ppp1r18	A	G	17: 36,179,595 (GRCm39)	E62G	probably damaging	Het
Prkag2	T	C	5: 25,152,475 (GRCm39)	S86G	possibly damaging	Het
Rabgap1l	A	T	1: 160,529,960 (GRCm39)	I347K	probably benign	Het
Rfx2	A	T	17: 57,111,326 (GRCm39)	I82N	possibly damaging	Het
Sh2b2	G	A	5: 136,260,589 (GRCm39)	A209V	possibly damaging	Het
Sh3d19	G	A	3: 86,033,951 (GRCm39)	R768H	possibly damaging	Het
Sh3rf1	C	T	8: 61,837,896 (GRCm39)	P814S	probably damaging	Het
Shbg	T	A	11: 69,508,415 (GRCm39)		probably benign	Het
Slc15a2	T	C	16: 36,576,745 (GRCm39)	T430A	probably benign	Het
Slc17a3	A	T	13: 24,039,591 (GRCm39)	I250F	probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spg11	A	G	2: 121,932,187 (GRCm39)	S552P	probably damaging	Het
Srpk2	A	G	5: 23,719,024 (GRCm39)	I597T	probably damaging	Het
St6galnac1	T	G	11: 116,660,097 (GRCm39)	N72T	possibly damaging	Het
Tecpr2	T	A	12: 110,911,321 (GRCm39)		probably null	Het
Tmem208	T	A	8: 106,061,462 (GRCm39)	C163S	possibly damaging	Het
Tpte	T	C	8: 22,835,047 (GRCm39)	V401A	probably damaging	Het
Trhde	A	G	10: 114,282,093 (GRCm39)	W795R	possibly damaging	Het
Trpm3	G	A	19: 22,866,809 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,626,063 (GRCm39)	T14999S	possibly damaging	Het
Txndc2	A	T	17: 65,945,921 (GRCm39)	N85K	probably benign	Het
Yes1	A	G	5: 32,810,507 (GRCm39)	Y192C	probably damaging	Het
Zan	A	G	5: 137,427,392 (GRCm39)	V2415A	unknown	Het
Zfp410	T	A	12: 84,379,726 (GRCm39)	C311S	probably damaging	Het
Zfp51	A	T	17: 21,676,642 (GRCm39)	M38L	probably benign	Het
Zfp560	A	T	9: 20,260,011 (GRCm39)	C284S	possibly damaging	Het
Zfp808	C	T	13: 62,320,714 (GRCm39)	R648*	probably null	Het
Zfp976	G	T	7: 42,262,806 (GRCm39)	H344N	probably damaging	Het

Other mutations in Rdh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02745:Rdh1	APN	10	127,601,288 (GRCm39)	missense	probably benign	0.06
R0077:Rdh1	UTSW	10	127,595,906 (GRCm39)	missense	probably damaging	1.00
R0481:Rdh1	UTSW	10	127,598,993 (GRCm39)	missense	probably damaging	1.00
R0511:Rdh1	UTSW	10	127,600,652 (GRCm39)	missense	probably benign
R0558:Rdh1	UTSW	10	127,595,810 (GRCm39)	missense	possibly damaging	0.88
R1993:Rdh1	UTSW	10	127,601,214 (GRCm39)	missense	probably benign
R2164:Rdh1	UTSW	10	127,596,041 (GRCm39)	missense	possibly damaging	0.89
R3021:Rdh1	UTSW	10	127,596,077 (GRCm39)	missense	possibly damaging	0.91
R5268:Rdh1	UTSW	10	127,595,832 (GRCm39)	missense	possibly damaging	0.67
R6126:Rdh1	UTSW	10	127,599,083 (GRCm39)	missense	probably damaging	1.00
R6216:Rdh1	UTSW	10	127,600,622 (GRCm39)	missense	probably benign	0.00
R7017:Rdh1	UTSW	10	127,598,906 (GRCm39)	missense	probably benign	0.02
R7332:Rdh1	UTSW	10	127,595,754 (GRCm39)	start gained	probably benign
R7397:Rdh1	UTSW	10	127,596,047 (GRCm39)	missense	probably benign	0.24
R7721:Rdh1	UTSW	10	127,596,121 (GRCm39)	critical splice donor site	probably null
R7724:Rdh1	UTSW	10	127,600,576 (GRCm39)	missense	possibly damaging	0.46
R7873:Rdh1	UTSW	10	127,595,892 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CGTGTCACAGTGTGCTTACCTTGTC -3'
(R):5'- CCAAGCGAATGACTGCTTACCTCC -3'

Sequencing Primer
(F):5'- AGTGTGCTTACCTTGTCCAATG -3'
(R):5'- aggaaagcagctaattctctttac -3'

Posted On

2014-04-24