Mutagenetix > Incidental Mutation

Incidental Mutation 'R0011:Rdh19'

8047

Institutional Source

Beutler Lab

Gene Symbol

Rdh19

Ensembl Gene

ENSMUSG00000054052

Gene Name

retinol dehydrogenase 19

Synonyms

RDH-S, Rdhs

MMRRC Submission

038306-MU

Accession Numbers

Essential gene?

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

Stock #

R0011 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

127685797-127697045 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127692780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 149 (L149Q)

Ref Sequence

ENSEMBL: ENSMUSP00000076735 (fasta)

Gene Model

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

AlphaFold

G5E8H9

Predicted Effect

probably damaging
Transcript: ENSMUST00000077530
AA Change: L149Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000076735
Gene: ENSMUSG00000054052
AA Change: L149Q

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

0.8844

Coding Region Coverage

1x: 78.3%
3x: 67.8%
10x: 41.6%
20x: 22.3%

Validation Efficiency

92% (85/92)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	A	G	10: 69,815,281 (GRCm39)		probably benign	Het
Art3	T	A	5: 92,551,471 (GRCm39)	Y17N	probably damaging	Het
Asic3	C	T	5: 24,622,490 (GRCm39)		probably benign	Het
Brip1	C	A	11: 86,077,824 (GRCm39)	K201N	possibly damaging	Het
Ccdc88a	T	C	11: 29,324,364 (GRCm39)	F6S	probably damaging	Het
Cdcp3	T	A	7: 130,831,722 (GRCm39)	L389Q	probably damaging	Het
Cfap54	A	T	10: 92,901,087 (GRCm39)	C156S	probably damaging	Het
Chia1	A	G	3: 106,038,290 (GRCm39)		probably benign	Het
Cops4	C	A	5: 100,675,847 (GRCm39)	Q28K	probably benign	Het
Dnai7	T	A	6: 145,124,781 (GRCm39)	M515L	probably damaging	Het
Epha7	G	A	4: 28,962,564 (GRCm39)	D961N	probably benign	Het
Grin2c	T	C	11: 115,146,576 (GRCm39)	Y476C	probably damaging	Het
Ift70a2	T	A	2: 75,806,561 (GRCm39)	R650S	probably damaging	Het
Igf2bp1	T	C	11: 95,896,410 (GRCm39)	D17G	probably damaging	Het
Kidins220	T	A	12: 25,049,351 (GRCm39)	V322E	probably damaging	Het
Krt35	T	A	11: 99,984,502 (GRCm39)	Q331L	probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mrc1	T	C	2: 14,266,148 (GRCm39)		probably null	Het
Msh2	T	C	17: 87,987,521 (GRCm39)		probably benign	Het
Ncoa1	A	C	12: 4,372,896 (GRCm39)	F57L	possibly damaging	Het
Npy4r	C	T	14: 33,868,680 (GRCm39)	V203M	probably damaging	Het
Pcdhgb8	T	C	18: 37,897,335 (GRCm39)	S802P	probably benign	Het
Ralgapa1	A	G	12: 55,833,048 (GRCm39)	S152P	probably damaging	Het
Rasgef1b	T	C	5: 99,380,213 (GRCm39)	Y344C	probably damaging	Het
Shtn1	A	G	19: 59,020,650 (GRCm39)	S191P	possibly damaging	Het
Tmem202	T	A	9: 59,432,084 (GRCm39)	N81I	probably benign	Het
Trim58	A	T	11: 58,533,946 (GRCm39)	T167S	probably benign	Het
Trp53i11	A	T	2: 93,029,698 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,640,699 (GRCm39)	H5356R	probably damaging	Het
Tyrp1	C	T	4: 80,759,030 (GRCm39)	T301I	probably damaging	Het
Wdr17	A	T	8: 55,125,536 (GRCm39)	I448K	possibly damaging	Het
Wscd1	T	C	11: 71,679,654 (GRCm39)	V509A	probably damaging	Het
Zfp251	A	G	15: 76,738,754 (GRCm39)	V108A	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
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
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

Posted On

2012-11-20