Mutagenetix > Incidental Mutation

Incidental Mutation 'R0042:Rdh10'

63233

Institutional Source

Beutler Lab

Gene Symbol

Rdh10

Ensembl Gene

ENSMUSG00000025921

Gene Name

retinol dehydrogenase 10 (all-trans)

Synonyms

3110069K09Rik, m366Asp, 4921506A21Rik, D1Ertd762e

MMRRC Submission

038336-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.888) question?

Stock #

R0042 (G1)

Quality Score

135

Status

Validated

Chromosome

Chromosomal Location

16176106-16202774 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 16178260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q8VCH7

Predicted Effect

probably benign
Transcript: ENSMUST00000027053

SMART Domains

Protein: ENSMUSP00000027053
Gene: ENSMUSG00000025921

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: 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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 94.8%

Validation Efficiency

100% (71/71)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	C	T	4: 53,059,245 (GRCm39)		probably benign	Het
Acr	T	A	15: 89,458,535 (GRCm39)	H405Q	probably benign	Het
Adad1	T	C	3: 37,137,322 (GRCm39)		probably benign	Het
Alox5ap	T	C	5: 149,216,069 (GRCm39)		probably benign	Het
Ank2	T	C	3: 126,730,280 (GRCm39)	D3568G	probably damaging	Het
Atl3	T	G	19: 7,506,388 (GRCm39)	I306S	probably damaging	Het
Atr	T	A	9: 95,809,409 (GRCm39)		probably benign	Het
Ccnb2	A	G	9: 70,326,335 (GRCm39)	V34A	probably benign	Het
Cdh12	A	C	15: 21,537,763 (GRCm39)		probably benign	Het
Cib1	C	T	7: 79,880,126 (GRCm39)	V45M	probably benign	Het
Col6a6	T	C	9: 105,657,896 (GRCm39)	E772G	possibly damaging	Het
Dmxl1	C	A	18: 49,997,102 (GRCm39)	T466K	probably benign	Het
Dym	T	C	18: 75,258,610 (GRCm39)		probably null	Het
Enpp3	A	C	10: 24,650,722 (GRCm39)	F805V	probably damaging	Het
Eya1	T	C	1: 14,254,713 (GRCm39)	D373G	probably damaging	Het
Gpr179	C	T	11: 97,225,757 (GRCm39)	V2133I	probably benign	Het
Grb10	G	T	11: 11,886,798 (GRCm39)	H435Q	probably damaging	Het
Gzmm	T	C	10: 79,530,399 (GRCm39)	I190T	probably benign	Het
Helt	T	C	8: 46,745,433 (GRCm39)	Y150C	probably damaging	Het
Hrg	A	T	16: 22,779,886 (GRCm39)		probably benign	Het
Il17ra	T	C	6: 120,449,086 (GRCm39)		probably benign	Het
Inhbc	A	G	10: 127,193,302 (GRCm39)	I238T	probably benign	Het
Itgb3	A	G	11: 104,557,966 (GRCm39)	T787A	possibly damaging	Het
Jakmip2	T	G	18: 43,685,210 (GRCm39)		probably benign	Het
Krt4	T	G	15: 101,831,187 (GRCm39)		probably benign	Het
Lgsn	C	T	1: 31,229,534 (GRCm39)	T85I	probably benign	Het
Metap1	C	T	3: 138,177,918 (GRCm39)	V217I	probably benign	Het
Mib2	A	T	4: 155,743,897 (GRCm39)	C48*	probably null	Het
Mroh4	T	A	15: 74,482,154 (GRCm39)	I768F	probably damaging	Het
Npas3	T	A	12: 54,095,624 (GRCm39)	D361E	probably damaging	Het
Obscn	A	G	11: 58,943,411 (GRCm39)	L4246P	probably damaging	Het
Or4a78	A	C	2: 89,497,798 (GRCm39)	V144G	probably benign	Het
Or7e169	A	G	9: 19,757,075 (GRCm39)	M280T	probably benign	Het
Or8h7	A	G	2: 86,720,835 (GRCm39)	I228T	probably damaging	Het
P4hb	G	A	11: 120,459,092 (GRCm39)	R134C	probably damaging	Het
Plcb3	T	C	19: 6,943,788 (GRCm39)	D71G	probably damaging	Het
Prex2	T	A	1: 11,150,305 (GRCm39)	V159E	probably damaging	Het
Prpsap1	T	A	11: 116,370,482 (GRCm39)	K158N	probably benign	Het
Prr35	C	A	17: 26,166,956 (GRCm39)	E194*	probably null	Het
Ptger1	G	T	8: 84,394,795 (GRCm39)	V91L	probably benign	Het
Rgs9bp	C	A	7: 35,284,458 (GRCm39)	R63L	probably damaging	Het
Slc13a5	A	T	11: 72,149,940 (GRCm39)	V173E	probably benign	Het
Spata31	A	T	13: 65,070,377 (GRCm39)	I842L	probably benign	Het
Stk32b	A	C	5: 37,874,092 (GRCm39)	D13E	probably benign	Het
Svep1	T	C	4: 58,123,192 (GRCm39)	D708G	possibly damaging	Het
Taar6	T	C	10: 23,861,021 (GRCm39)	D175G	probably benign	Het
Thbs1	A	C	2: 117,953,358 (GRCm39)	D925A	probably damaging	Het
Tnr	A	T	1: 159,714,595 (GRCm39)	T825S	probably benign	Het
Ttc23l	A	C	15: 10,551,627 (GRCm39)	L33W	probably damaging	Het
Ttc39d	T	C	17: 80,523,379 (GRCm39)	Y13H	probably benign	Het
Vmn2r102	C	A	17: 19,880,851 (GRCm39)	P64Q	probably damaging	Het
Vps11	G	T	9: 44,267,588 (GRCm39)	Y341*	probably null	Het
Vsig8	T	C	1: 172,387,925 (GRCm39)	V5A	possibly damaging	Het
Vwce	C	T	19: 10,624,177 (GRCm39)	A356V	probably benign	Het

Other mutations in Rdh10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00731:Rdh10	APN	1	16,178,099 (GRCm39)	missense	probably benign
IGL01646:Rdh10	APN	1	16,178,246 (GRCm39)	missense	possibly damaging	0.90
IGL01820:Rdh10	APN	1	16,198,483 (GRCm39)	missense	possibly damaging	0.84
IGL02377:Rdh10	APN	1	16,176,438 (GRCm39)	nonsense	probably null
IGL03212:Rdh10	APN	1	16,178,051 (GRCm39)	missense	probably benign	0.03
R0039:Rdh10	UTSW	1	16,199,508 (GRCm39)	missense	probably damaging	0.97
R0042:Rdh10	UTSW	1	16,178,260 (GRCm39)	unclassified	probably benign
R0109:Rdh10	UTSW	1	16,176,489 (GRCm39)	missense	probably damaging	0.97
R0569:Rdh10	UTSW	1	16,199,517 (GRCm39)	missense	probably damaging	1.00
R1272:Rdh10	UTSW	1	16,178,240 (GRCm39)	missense	probably damaging	1.00
R1633:Rdh10	UTSW	1	16,198,420 (GRCm39)	missense	possibly damaging	0.90
R2896:Rdh10	UTSW	1	16,176,329 (GRCm39)	splice site	probably null
R4623:Rdh10	UTSW	1	16,201,287 (GRCm39)	splice site	probably benign
R5095:Rdh10	UTSW	1	16,201,609 (GRCm39)	missense	probably benign	0.01
R5158:Rdh10	UTSW	1	16,178,221 (GRCm39)	missense	probably damaging	1.00
R5535:Rdh10	UTSW	1	16,201,408 (GRCm39)	missense	probably damaging	1.00
R6433:Rdh10	UTSW	1	16,178,079 (GRCm39)	missense	probably damaging	0.98
R6778:Rdh10	UTSW	1	16,176,408 (GRCm39)	missense	probably damaging	0.99
R6922:Rdh10	UTSW	1	16,176,255 (GRCm39)	missense	probably benign
R9145:Rdh10	UTSW	1	16,199,430 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTACACTTGTGACGTGGGGAAG -3'
(R):5'- GTAGTTTGGAAGCCTAACCCCTGAC -3'

Sequencing Primer
(F):5'- GAGAGAGAATGTCTACCTGACAGC -3'
(R):5'- CCCCTGACTTTACGAATTCATAAG -3'

Posted On

2013-07-30