Mutagenetix > Incidental Mutation

Incidental Mutation 'R6126:Rdh1'

487407

Institutional Source

Beutler Lab

Gene Symbol

Rdh1

Ensembl Gene

ENSMUSG00000089789

Gene Name

retinol dehydrogenase 1 (all trans)

Synonyms

MMRRC Submission

044273-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R6126 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127595595-127604168 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127599083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 188 (D188V)

Ref Sequence

ENSEMBL: ENSMUSP00000073322 (fasta)

Gene Model

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

AlphaFold

Q8CGV4

Predicted Effect

probably damaging
Transcript: ENSMUST00000073639
AA Change: D188V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000073322
Gene: ENSMUSG00000089789
AA Change: D188V

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

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

93% (51/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	G	A	3: 89,963,881 (GRCm39)	R111H	probably damaging	Het
Alk	G	A	17: 72,182,037 (GRCm39)	L1329F	possibly damaging	Het
Apoh	A	T	11: 108,288,199 (GRCm39)	I106F	probably damaging	Het
Atp8a2	C	T	14: 60,281,775 (GRCm39)	M126I	probably benign	Het
Cactin	G	A	10: 81,160,143 (GRCm39)	R412H	possibly damaging	Het
Chd7	T	C	4: 8,826,482 (GRCm39)	S949P	probably damaging	Het
Clec11a	C	T	7: 43,954,345 (GRCm39)	A203T	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dst	T	A	1: 34,267,264 (GRCm39)	I5080K	probably damaging	Het
Ecd	T	C	14: 20,388,493 (GRCm39)		probably null	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fan1	T	A	7: 64,014,318 (GRCm39)	K638*	probably null	Het
Fblim1	G	A	4: 141,312,033 (GRCm39)	R231C	probably damaging	Het
Fig4	A	G	10: 41,141,443 (GRCm39)	I272T	probably damaging	Het
Foxd2	C	A	4: 114,765,702 (GRCm39)	G106V	unknown	Het
Ggcx	A	T	6: 72,394,966 (GRCm39)	M115L	possibly damaging	Het
Gm21976	G	A	13: 98,423,821 (GRCm39)	R72H	unknown	Het
Hsf2	T	C	10: 57,372,013 (GRCm39)	V38A	probably damaging	Het
Ifi208	A	G	1: 173,505,274 (GRCm39)	Y8C	possibly damaging	Het
Il31ra	A	C	13: 112,666,908 (GRCm39)	L390R	probably damaging	Het
Kif1a	A	T	1: 92,947,621 (GRCm39)	Y1614N	probably damaging	Het
Mef2b	C	A	8: 70,619,526 (GRCm39)	T267K	probably benign	Het
Mfsd8	A	G	3: 40,786,446 (GRCm39)		probably null	Het
Mnx1	G	T	5: 29,683,110 (GRCm39)	A55E	possibly damaging	Het
Muc5ac	A	T	7: 141,354,969 (GRCm39)	I949F	possibly damaging	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Ntpcr	G	A	8: 126,462,626 (GRCm39)		probably null	Het
Or12j3	T	G	7: 139,953,166 (GRCm39)	Y119S	probably damaging	Het
Otx1	T	C	11: 21,946,457 (GRCm39)		probably benign	Het
Panx1	T	A	9: 14,919,086 (GRCm39)	I258F	probably benign	Het
Pask	T	C	1: 93,242,081 (GRCm39)	Y1212C	probably damaging	Het
Pdgfra	A	G	5: 75,331,190 (GRCm39)	K265R	probably benign	Het
Phf20l1	A	G	15: 66,508,673 (GRCm39)	H844R	probably benign	Het
Ppp6r1	T	C	7: 4,646,376 (GRCm39)	T136A	possibly damaging	Het
Rab35	A	G	5: 115,783,767 (GRCm39)	N185D	probably benign	Het
Rimbp3	A	T	16: 17,030,140 (GRCm39)	D1188V	probably benign	Het
Robo2	C	T	16: 73,717,570 (GRCm39)	G100S	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Ryr1	A	C	7: 28,775,664 (GRCm39)	D2282E	probably null	Het
Ryr3	A	G	2: 112,588,015 (GRCm39)	L2642P	probably damaging	Het
Sez6	A	T	11: 77,864,630 (GRCm39)	Y530F	probably damaging	Het
Slc12a2	A	G	18: 58,077,116 (GRCm39)	Y1205C	possibly damaging	Het
Slc4a5	A	T	6: 83,203,247 (GRCm39)	H49L	probably benign	Het
Smchd1	A	T	17: 71,677,280 (GRCm39)	V1503D	probably damaging	Het
Spata31e3	G	T	13: 50,400,326 (GRCm39)	Q667K	probably benign	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Tex15	A	G	8: 34,063,591 (GRCm39)	N1007S	probably benign	Het
Tpk1	A	T	6: 43,400,594 (GRCm39)	C143S	probably damaging	Het
Wdr20	A	T	12: 110,760,536 (GRCm39)	H474L	probably benign	Het
Wnk4	A	G	11: 101,167,174 (GRCm39)		probably benign	Het
Zfp292	T	C	4: 34,808,497 (GRCm39)	T1516A	probably benign	Het
Zfp462	G	A	4: 55,023,573 (GRCm39)	A2121T	probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	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
R1569:Rdh1	UTSW	10	127,598,941 (GRCm39)	missense	probably benign
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
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'- TTTGCAAGAGTACTGGATGTGAACC -3'
(R):5'- TACCTCCAATGAAGGGCAGG -3'

Sequencing Primer
(F):5'- AACCTGTTGGGCATGATCGAG -3'
(R):5'- TATAGATGATTGTGAGCCACCG -3'

Posted On

2017-10-10