Mutagenetix > Incidental Mutations

Incidental Mutation 'R0109:Rdh10'

17805

Institutional Source

Beutler Lab

Gene Symbol

Rdh10

Ensembl Gene

ENSMUSG00000025921

Gene Name

retinol dehydrogenase 10 (all-trans)

Synonyms

3110069K09Rik, D1Ertd762e, 4921506A21Rik, m366Asp

MMRRC Submission

038395-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.906) question?

Stock #

R0109 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

16105774-16133734 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 16106265 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 83 (I83N)

Ref Sequence

ENSEMBL: ENSMUSP00000027053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027053] [ENSMUST00000058437]

Predicted Effect

probably damaging
Transcript: ENSMUST00000027053
AA Change: I83N

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027053
Gene: ENSMUSG00000025921
AA Change: I83N

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
Pfam:KR	37	231	3.1e-8	PFAM
Pfam:adh_short	90	259	1.8e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000058437

SMART Domains

Protein: ENSMUSP00000071616
Gene: ENSMUSG00000043716

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L30_N	39	109	4.5e-31	PFAM
Pfam:Ribosomal_L30	112	162	1.3e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125005

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140597

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141217

Predicted Effect

probably benign
Transcript: ENSMUST00000149566

SMART Domains

Protein: ENSMUSP00000118695
Gene: ENSMUSG00000043716

Domain	Start	End	E-Value	Type
low complexity region	20	36	N/A	INTRINSIC
Pfam:Ribosomal_L30_N	65	135	2.1e-31	PFAM
Pfam:Ribosomal_L30	138	188	3e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151017

Meta Mutation Damage Score

0.2401

Coding Region Coverage

1x: 90.6%
3x: 88.5%
10x: 83.8%
20x: 77.5%

Validation Efficiency

90% (95/106)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a retinol dehydrogenase, which converts all-trans-retinol to all-trans-retinal, with preference for NADP as a cofactor. Studies in mice suggest that this protein is essential for synthesis of embryonic retinoic acid and is required for limb, craniofacial, and organ development. [provided by RefSeq, Dec 2011]
PHENOTYPE: Embryos homozygous for null or hypomorphic alleles exhibit mid-gestational lethality, reduced Retinoic Acid signaling and abnormal limb, craniofacial, somite and cardiac morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,659,303	H710Q	probably benign	Het
Abca14	A	T	7: 120,318,762	K1496*	probably null	Het
Anapc1	C	A	2: 128,634,693	R1335L	probably damaging	Het
Arhgef10l	A	T	4: 140,578,294	S203T	probably benign	Het
Astn1	C	T	1: 158,664,104	T41I	possibly damaging	Het
Atrnl1	T	A	19: 57,755,517	Y1184N	possibly damaging	Het
Avil	A	G	10: 127,013,644	N603S	probably benign	Het
Brca1	T	C	11: 101,531,090	D149G	possibly damaging	Het
Car14	C	A	3: 95,899,451	A234S	probably benign	Het
Cep164	A	C	9: 45,771,587	L935R	probably damaging	Het
Cps1	T	C	1: 67,229,418	V1435A	possibly damaging	Het
Csmd2	T	G	4: 128,544,743	S3038R	probably benign	Het
Cyp2j6	A	T	4: 96,518,157	I459N	probably damaging	Het
Cyth1	T	C	11: 118,182,306	E242G	probably damaging	Het
Dclk3	T	G	9: 111,467,670	L94R	possibly damaging	Het
Disp2	T	C	2: 118,791,816	S1010P	probably damaging	Het
Dlec1	G	A	9: 119,105,824	R145H	probably damaging	Het
Dsg3	T	C	18: 20,540,134	V954A	probably damaging	Het
Dync2h1	T	A	9: 7,111,487	D309V	probably damaging	Het
Fam13b	A	G	18: 34,451,308	I601T	probably benign	Het
Fgd5	T	A	6: 91,988,235	M325K	possibly damaging	Het
Frmpd1	A	T	4: 45,279,340	E688D	probably benign	Het
Gabrb1	C	T	5: 72,121,946		probably benign	Het
Gm10130	A	T	2: 150,323,841		probably benign	Het
Gm6590	A	T	6: 130,484,906		noncoding transcript	Het
Gse1	T	A	8: 120,567,785	S284T	probably damaging	Het
Ipo13	C	T	4: 117,905,016	R387Q	possibly damaging	Het
Kctd16	A	G	18: 40,259,151	E264G	probably benign	Het
Krt73	A	T	15: 101,796,395	L352*	probably null	Het
Mapk15	A	T	15: 75,996,077	K153*	probably null	Het
Mcemp1	C	A	8: 3,667,055	Y65*	probably null	Het
Mcoln2	C	G	3: 146,175,718	R210G	probably damaging	Het
Miox	G	A	15: 89,335,581	V91I	probably benign	Het
Myh7b	A	G	2: 155,611,674	E6G	possibly damaging	Het
Ncapg	A	G	5: 45,693,748		probably null	Het
Nfyb	G	A	10: 82,755,002	A65V	possibly damaging	Het
Olfr1241	A	G	2: 89,482,803	F111L	probably benign	Het
Olfr1442	C	A	19: 12,674,860	F218L	probably benign	Het
Olfr646	T	C	7: 104,106,605	S109P	probably damaging	Het
Osbp2	A	C	11: 3,711,791	S754A	probably benign	Het
Pard3	C	T	8: 127,398,666	R712C	probably damaging	Het
Parp9	T	C	16: 35,948,341	I64T	probably damaging	Het
Pcm1	T	A	8: 41,257,937	H81Q	possibly damaging	Het
Pcnt	G	A	10: 76,389,196	P1825S	probably benign	Het
Pfkfb4	T	C	9: 108,998,889	V43A	probably benign	Het
Pgap1	A	T	1: 54,494,825	V643E	probably damaging	Het
Pip5k1a	T	C	3: 95,065,442	T433A	probably benign	Het
Pip5k1b	T	A	19: 24,379,047	M176L	probably benign	Het
Polg2	T	C	11: 106,777,132		probably benign	Het
Pomp	T	A	5: 147,875,513	H136Q	probably benign	Het
Ppfia4	A	T	1: 134,324,217		probably null	Het
Prdx2	G	A	8: 84,970,251	G4S	probably benign	Het
Rbm28	C	T	6: 29,160,105	G70D	probably benign	Het
Rin3	A	G	12: 102,313,081	I50V	possibly damaging	Het
Rnf122	T	C	8: 31,124,849		probably benign	Het
Sik2	A	G	9: 50,899,475	M447T	possibly damaging	Het
Sla2	A	G	2: 156,883,587		probably null	Het
Slc51a	T	A	16: 32,477,607	I192L	probably benign	Het
Sorcs1	T	C	19: 50,378,891		probably benign	Het
Spata16	T	A	3: 26,913,267	F389I	probably damaging	Het
Srebf1	G	A	11: 60,201,804	A793V	probably benign	Het
Tbc1d9b	T	C	11: 50,158,434	V736A	probably benign	Het
Tbx15	C	A	3: 99,351,866	T351N	possibly damaging	Het
Tep1	A	G	14: 50,851,916		probably null	Het
Tmed11	T	A	5: 108,777,412	D178V	probably damaging	Het
Traf7	A	G	17: 24,513,926	F110L	probably benign	Het
Ubqlnl	C	T	7: 104,150,192	V33M	probably damaging	Het
Vcan	A	T	13: 89,678,073		probably null	Het
Vmn1r194	A	G	13: 22,245,047	Y278C	probably damaging	Het
Vmn1r46	T	C	6: 89,977,062	F298L	probably benign	Het
Vps13b	A	G	15: 35,572,119	T961A	probably benign	Het
Wdr48	G	A	9: 119,918,568		probably benign	Het
Wwp1	G	A	4: 19,641,725		probably benign	Het
Zfp217	C	T	2: 170,115,462	A539T	probably benign	Het
Zfp839	G	A	12: 110,860,874	E400K	possibly damaging	Het

Other mutations in Rdh10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00731:Rdh10	APN	1	16107875	missense	probably benign
IGL01646:Rdh10	APN	1	16108022	missense	possibly damaging	0.90
IGL01820:Rdh10	APN	1	16128259	missense	possibly damaging	0.84
IGL02377:Rdh10	APN	1	16106214	nonsense	probably null
IGL03212:Rdh10	APN	1	16107827	missense	probably benign	0.03
R0039:Rdh10	UTSW	1	16129284	missense	probably damaging	0.97
R0042:Rdh10	UTSW	1	16108036	unclassified	probably benign
R0042:Rdh10	UTSW	1	16108036	unclassified	probably benign
R0569:Rdh10	UTSW	1	16129293	missense	probably damaging	1.00
R1272:Rdh10	UTSW	1	16108016	missense	probably damaging	1.00
R1633:Rdh10	UTSW	1	16128196	missense	possibly damaging	0.90
R2896:Rdh10	UTSW	1	16106105	splice site	probably null
R4623:Rdh10	UTSW	1	16131063	splice site	probably benign
R5095:Rdh10	UTSW	1	16131385	missense	probably benign	0.01
R5158:Rdh10	UTSW	1	16107997	missense	probably damaging	1.00
R5535:Rdh10	UTSW	1	16131184	missense	probably damaging	1.00
R6433:Rdh10	UTSW	1	16107855	missense	probably damaging	0.98
R6778:Rdh10	UTSW	1	16106184	missense	probably damaging	0.99
R6922:Rdh10	UTSW	1	16106031	missense	probably benign

Posted On

2013-01-31