Mutagenetix > Incidental Mutation

Incidental Mutation 'R7328:Rdh19'

569061

Institutional Source

Beutler Lab

Gene Symbol

Rdh19

Ensembl Gene

ENSMUSG00000054052

Gene Name

retinol dehydrogenase 19

Synonyms

RDH-S, Rdhs

MMRRC Submission

045421-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R7328 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127685797-127697045 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127692896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 188 (S188P)

Ref Sequence

ENSEMBL: ENSMUSP00000076735 (fasta)

Gene Model

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

AlphaFold

G5E8H9

Predicted Effect

probably damaging
Transcript: ENSMUST00000077530
AA Change: S188P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076735
Gene: ENSMUSG00000054052
AA Change: S188P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	G	11: 72,060,606 (GRCm39)		probably null	Het
Abca13	T	A	11: 9,241,545 (GRCm39)	V1136E	probably benign	Het
Arl4c	C	A	1: 88,629,239 (GRCm39)	E50*	probably null	Het
Atxn7l1	T	C	12: 33,198,502 (GRCm39)		probably null	Het
Ctdsp1	A	T	1: 74,433,199 (GRCm39)	I115F	probably damaging	Het
Cyp2j5	A	G	4: 96,551,450 (GRCm39)	V91A	probably damaging	Het
Dscam	T	A	16: 96,446,235 (GRCm39)	K1469*	probably null	Het
Elf2	A	G	3: 51,174,198 (GRCm39)	C110R	probably damaging	Het
Ephb1	A	G	9: 102,072,438 (GRCm39)	Y114H	probably damaging	Het
Ephb2	C	T	4: 136,386,245 (GRCm39)		probably null	Het
Fbxw20	C	A	9: 109,061,383 (GRCm39)	C122F	probably damaging	Het
Flnb	T	C	14: 7,883,788 (GRCm38)	I338T	possibly damaging	Het
Flnb	T	A	14: 7,894,660 (GRCm38)	Y819*	probably null	Het
Foxo3	A	T	10: 42,073,258 (GRCm39)	S420T	probably benign	Het
Herpud1	T	C	8: 95,113,248 (GRCm39)	V10A	possibly damaging	Het
Hmcn1	A	T	1: 150,514,617 (GRCm39)	V3585E	possibly damaging	Het
Hsdl1	T	C	8: 120,292,830 (GRCm39)	T202A	probably benign	Het
Htr1d	G	A	4: 136,170,614 (GRCm39)	S281N	probably benign	Het
Igkv14-111	T	A	6: 68,233,709 (GRCm39)	I70N	probably damaging	Het
Igkv8-34	A	G	6: 70,021,328 (GRCm39)	S45P	probably damaging	Het
Inha	T	C	1: 75,486,760 (GRCm39)	Y352H	probably damaging	Het
Lats1	A	T	10: 7,581,311 (GRCm39)	M699L	possibly damaging	Het
Marchf9	T	C	10: 126,894,165 (GRCm39)	E146G	probably damaging	Het
Mcm8	T	C	2: 132,674,777 (GRCm39)	V443A	probably benign	Het
Melk	A	T	4: 44,332,931 (GRCm39)	S296C	probably benign	Het
Myo18a	T	C	11: 77,698,737 (GRCm39)	S4P		Het
Myof	T	C	19: 37,904,847 (GRCm39)	Y1646C	probably damaging	Het
Noc4l	C	A	5: 110,796,789 (GRCm39)	A498S	possibly damaging	Het
Nrxn3	T	C	12: 88,762,345 (GRCm39)	S131P	probably benign	Het
Or5ae2	T	C	7: 84,506,507 (GRCm39)	I312T	probably benign	Het
Or5ak23	A	G	2: 85,244,668 (GRCm39)	I185T	probably benign	Het
Or5j3	GTACTTTTT	GT	2: 86,128,338 (GRCm39)		probably null	Het
Or8g23	T	C	9: 38,971,857 (GRCm39)	Y35C	probably damaging	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Phldb2	T	A	16: 45,578,572 (GRCm39)		probably null	Het
Polr2b	C	T	5: 77,463,846 (GRCm39)	P81L	probably damaging	Het
Rbfa	C	A	18: 80,236,454 (GRCm39)	G215C	probably benign	Het
Scn9a	T	C	2: 66,314,931 (GRCm39)	M1596V	probably benign	Het
Sele	A	T	1: 163,876,844 (GRCm39)	Y40F	probably benign	Het
Setd1b	T	A	5: 123,290,442 (GRCm39)	V803D	unknown	Het
Siglecf	C	T	7: 43,001,691 (GRCm39)	T167I	possibly damaging	Het
Slc39a6	T	C	18: 24,733,987 (GRCm39)	E234G	probably benign	Het
Slco1a1	T	A	6: 141,882,134 (GRCm39)	D145V	possibly damaging	Het
Son	G	A	16: 91,455,278 (GRCm39)	V1342I	probably benign	Het
Sybu	G	A	15: 44,651,190 (GRCm39)	P38L	not run	Het
Taf15	C	T	11: 83,375,658 (GRCm39)	T41M	possibly damaging	Het
Tm4sf4	A	T	3: 57,333,925 (GRCm39)	N71Y	probably benign	Het
Tm7sf2	C	T	19: 6,114,156 (GRCm39)	V226I	possibly damaging	Het
Trim66	C	A	7: 109,056,958 (GRCm39)	Q1066H	probably damaging	Het
Tyw1	T	C	5: 130,291,685 (GRCm39)	V51A	probably benign	Het
Vav3	A	T	3: 109,410,744 (GRCm39)	I192L	probably benign	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
R3841:Rdh19	UTSW	10	127,692,755 (GRCm39)	missense	probably benign
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
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'- TGGGTCTCAGTCAGTGGATGAAC -3'
(R):5'- GAACTCAACTCCTGTCTTGGTC -3'

Sequencing Primer
(F):5'- ACAGAACTTTGCAAGTGTACTGG -3'
(R):5'- TCATGGCCTCTTATAGAGACATGGAG -3'

Posted On

2019-09-13