Mutagenetix > Incidental Mutation

Incidental Mutation 'R3841:Rdh19'

277172

Institutional Source

Beutler Lab

Gene Symbol

Rdh19

Ensembl Gene

ENSMUSG00000054052

Gene Name

retinol dehydrogenase 19

Synonyms

RDH-S, Rdhs

MMRRC Submission

040781-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R3841 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127685797-127697045 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127692755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 141 (M141L)

Ref Sequence

ENSEMBL: ENSMUSP00000076735 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077530]

AlphaFold

G5E8H9

Predicted Effect

probably benign
Transcript: ENSMUST00000077530
AA Change: M141L

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

SMART Domains

Protein: ENSMUSP00000076735
Gene: ENSMUSG00000054052
AA Change: M141L

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:adh_short	30	223	1.8e-43	PFAM
Pfam:DUF1776	43	304	1.1e-8	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	A	T	18: 6,620,104 (GRCm39)	K11N	probably benign	Het
Atp8b3	A	G	10: 80,365,540 (GRCm39)	F405L	possibly damaging	Het
BC035947	G	T	1: 78,474,482 (GRCm39)	N683K	probably benign	Het
Bmper	T	A	9: 23,384,727 (GRCm39)		probably null	Het
Btnl7-ps	A	G	17: 34,761,550 (GRCm39)		noncoding transcript	Het
Cmya5	A	G	13: 93,231,140 (GRCm39)	V1316A	probably damaging	Het
Cracd	A	T	5: 77,006,858 (GRCm39)	Q1073L	unknown	Het
Dgcr6	C	A	16: 17,888,077 (GRCm39)	Y200*	probably null	Het
Dsp	A	C	13: 38,381,681 (GRCm39)	I2210L	probably benign	Het
Eef1e1	G	A	13: 38,840,167 (GRCm39)	T46I	probably damaging	Het
Epc2	A	G	2: 49,378,750 (GRCm39)	K68R	probably damaging	Het
F11r	G	T	1: 171,288,457 (GRCm39)	R100L	probably damaging	Het
Fam83c	C	T	2: 155,676,668 (GRCm39)	R34H	probably benign	Het
Fbxw25	A	T	9: 109,491,202 (GRCm39)	Y105*	probably null	Het
Ggt1	T	A	10: 75,417,219 (GRCm39)	Y5*	probably null	Het
Hipk2	T	C	6: 38,795,861 (GRCm39)	E136G	probably damaging	Het
Hsph1	T	A	5: 149,544,180 (GRCm39)		probably null	Het
Impdh1	A	G	6: 29,202,768 (GRCm39)	S421P	probably damaging	Het
Jhy	T	A	9: 40,856,142 (GRCm39)	E115V	probably benign	Het
Kmt2a	T	C	9: 44,742,588 (GRCm39)		probably benign	Het
Ldlrap1	T	C	4: 134,477,747 (GRCm39)	T159A	probably damaging	Het
Lrrc4c	A	G	2: 97,460,537 (GRCm39)	T388A	probably damaging	Het
Map3k10	C	A	7: 27,357,789 (GRCm39)	C663F	possibly damaging	Het
Me3	A	T	7: 89,435,701 (GRCm39)	N179Y	possibly damaging	Het
Medag	T	A	5: 149,350,888 (GRCm39)	I121N	probably damaging	Het
Mocos	C	T	18: 24,809,681 (GRCm39)	A428V	probably damaging	Het
Mok	C	T	12: 110,781,591 (GRCm39)	V59M	probably benign	Het
Neb	C	A	2: 52,097,672 (GRCm39)		probably null	Het
Nr2c2	C	T	6: 92,140,119 (GRCm39)	R464W	probably damaging	Het
Or52s1	G	A	7: 102,861,900 (GRCm39)	G267R	probably damaging	Het
Or6c35	A	G	10: 129,169,202 (GRCm39)	I151V	probably benign	Het
Otud1	G	T	2: 19,663,554 (GRCm39)	E228*	probably null	Het
Parp4	A	T	14: 56,825,235 (GRCm39)	N120Y	probably damaging	Het
Ptprb	T	C	10: 116,182,887 (GRCm39)	V1521A	possibly damaging	Het
Rap1gap	T	C	4: 137,444,758 (GRCm39)	F182S	probably damaging	Het
Rcan2	A	G	17: 44,347,870 (GRCm39)	K193R	probably benign	Het
Selenok	C	T	14: 29,695,337 (GRCm39)	R72*	probably null	Het
Tbpl1	A	G	10: 22,587,807 (GRCm39)		probably benign	Het
Tnxb	A	G	17: 34,917,897 (GRCm39)	E2270G	possibly damaging	Het
Tulp1	A	G	17: 28,572,689 (GRCm39)	V489A	probably damaging	Het
Utp20	A	T	10: 88,611,065 (GRCm39)		probably benign	Het
Zfp617	G	A	8: 72,685,961 (GRCm39)	G97E	probably damaging	Het
Zfp773	A	G	7: 7,135,390 (GRCm39)	V402A	possibly damaging	Het

Other mutations in Rdh19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01565:Rdh19	APN	10	127,695,464 (GRCm39)	missense	probably benign
R0011:Rdh19	UTSW	10	127,692,780 (GRCm39)	missense	probably damaging	1.00
R0011:Rdh19	UTSW	10	127,692,780 (GRCm39)	missense	probably damaging	1.00
R3978:Rdh19	UTSW	10	127,685,944 (GRCm39)	missense	possibly damaging	0.89
R3979:Rdh19	UTSW	10	127,685,944 (GRCm39)	missense	possibly damaging	0.89
R3981:Rdh19	UTSW	10	127,686,017 (GRCm39)	missense	probably benign	0.43
R3983:Rdh19	UTSW	10	127,686,017 (GRCm39)	missense	probably benign	0.43
R4555:Rdh19	UTSW	10	127,686,020 (GRCm39)	missense	probably benign	0.20
R4871:Rdh19	UTSW	10	127,696,013 (GRCm39)	missense	probably benign
R4915:Rdh19	UTSW	10	127,686,113 (GRCm39)	missense	probably benign	0.06
R5712:Rdh19	UTSW	10	127,692,756 (GRCm39)	missense	probably benign	0.05
R5990:Rdh19	UTSW	10	127,695,463 (GRCm39)	missense	probably benign
R7328:Rdh19	UTSW	10	127,692,896 (GRCm39)	missense	probably damaging	1.00
R7806:Rdh19	UTSW	10	127,692,740 (GRCm39)	missense	probably damaging	0.98
R7886:Rdh19	UTSW	10	127,686,169 (GRCm39)	missense	probably benign	0.05
R8496:Rdh19	UTSW	10	127,695,469 (GRCm39)	missense	probably damaging	1.00
R8935:Rdh19	UTSW	10	127,685,929 (GRCm39)	missense	possibly damaging	0.77
R9090:Rdh19	UTSW	10	127,696,142 (GRCm39)	missense	probably damaging	0.99
R9140:Rdh19	UTSW	10	127,692,830 (GRCm39)	missense
R9271:Rdh19	UTSW	10	127,696,142 (GRCm39)	missense	probably damaging	0.99
R9344:Rdh19	UTSW	10	127,692,740 (GRCm39)	missense	probably damaging	0.98
R9473:Rdh19	UTSW	10	127,696,177 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CCTATTCTTCAGTAAACAGCAGTCAC -3'
(R):5'- AAGCTCTGCTATTGGACCCC -3'

Sequencing Primer
(F):5'- ACAGCAGTCACAGTGGTCTTATTTG -3'
(R):5'- CTTCCCTTCCATTACCTGAGGGAG -3'

Posted On

2015-04-06