Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01820:Rdh10'

154505

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rdh10

Ensembl Gene

ENSMUSG00000025921

Gene Name

retinol dehydrogenase 10 (all-trans)

Synonyms

3110069K09Rik, m366Asp, 4921506A21Rik, D1Ertd762e

Accession Numbers

Essential gene?

Probably essential (E-score: 0.900) question?

Stock #

IGL01820

Quality Score

Status

Chromosome

Chromosomal Location

16176106-16202774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16198483 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 207 (V207A)

Ref Sequence

ENSEMBL: ENSMUSP00000027053 (fasta)

Gene Model

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

AlphaFold

Q8VCH7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027053
AA Change: V207A

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027053
Gene: ENSMUSG00000025921
AA Change: V207A

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

noncoding transcript
Transcript: ENSMUST00000152626

Coding Region Coverage

Validation Efficiency

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,765,896 (GRCm39)		probably benign	Het
Adcy2	T	C	13: 68,886,664 (GRCm39)		probably null	Het
Akna	G	T	4: 63,304,495 (GRCm39)	T553N	probably benign	Het
Boc	A	G	16: 44,312,235 (GRCm39)	I609T	possibly damaging	Het
Btbd9	C	T	17: 30,746,383 (GRCm39)	V148I	possibly damaging	Het
Cacna1d	A	T	14: 29,764,823 (GRCm39)	I2049N	possibly damaging	Het
Cdhr1	A	T	14: 36,807,536 (GRCm39)	M368K	probably benign	Het
Cftr	A	G	6: 18,226,138 (GRCm39)	Y362C	probably damaging	Het
Cnppd1	G	T	1: 75,116,236 (GRCm39)		probably null	Het
Col3a1	T	C	1: 45,360,768 (GRCm39)	I66T	unknown	Het
Col5a2	C	A	1: 45,481,985 (GRCm39)	M46I	unknown	Het
Csmd3	G	T	15: 47,470,538 (GRCm39)	C3379*	probably null	Het
Ctla2b	T	A	13: 61,044,503 (GRCm39)	*28C	probably null	Het
Ddhd2	C	T	8: 26,239,781 (GRCm39)	E33K	possibly damaging	Het
Dock3	T	C	9: 106,773,092 (GRCm39)	H387R	probably damaging	Het
Dyrk1b	T	A	7: 27,881,025 (GRCm39)		probably benign	Het
Fam131c	T	C	4: 141,107,648 (GRCm39)	C53R	probably damaging	Het
Fat1	T	A	8: 45,463,539 (GRCm39)	F1360L	probably damaging	Het
Gm10320	G	T	13: 98,626,045 (GRCm39)	S113*	probably null	Het
Ifih1	T	C	2: 62,447,657 (GRCm39)	D349G	probably damaging	Het
Il12a	T	C	3: 68,599,495 (GRCm39)		probably benign	Het
Ivl	A	T	3: 92,478,940 (GRCm39)	M375K	possibly damaging	Het
Krt82	C	A	15: 101,451,887 (GRCm39)		probably benign	Het
Mc4r	C	T	18: 66,992,226 (GRCm39)	V296I	probably benign	Het
Met	T	A	6: 17,534,230 (GRCm39)	I691N	possibly damaging	Het
Mycbp2	A	T	14: 103,425,937 (GRCm39)	I2396K	probably damaging	Het
Napg	C	A	18: 63,119,516 (GRCm39)	Q135K	probably benign	Het
Nf2	A	T	11: 4,739,655 (GRCm39)		probably null	Het
Nrxn1	G	T	17: 90,950,531 (GRCm39)	H549Q	probably damaging	Het
P4ha1	T	A	10: 59,197,736 (GRCm39)	I321K	probably damaging	Het
Prl5a1	T	C	13: 28,332,683 (GRCm39)	S94P	probably benign	Het
Prnp	T	C	2: 131,778,990 (GRCm39)	V214A	probably benign	Het
Ptprc	A	T	1: 137,993,936 (GRCm39)	F1165I	probably damaging	Het
Rel	A	T	11: 23,703,218 (GRCm39)	N131K	probably benign	Het
Rgs14	A	T	13: 55,531,338 (GRCm39)	D448V	probably benign	Het
Spag5	T	G	11: 78,195,085 (GRCm39)	S131A	probably benign	Het
Styxl1	C	T	5: 135,794,604 (GRCm39)	D88N	probably damaging	Het
Tlr3	C	T	8: 45,851,376 (GRCm39)	R507H	probably benign	Het
Ttn	C	T	2: 76,616,670 (GRCm39)	E16528K	possibly damaging	Het
Txlnb	T	C	10: 17,682,606 (GRCm39)		probably null	Het
Unc13a	A	G	8: 72,107,591 (GRCm39)	V567A	probably damaging	Het
Vmn1r8	T	C	6: 57,013,653 (GRCm39)	S235P	possibly damaging	Het
Vmn2r51	T	A	7: 9,839,409 (GRCm39)	N60Y	probably damaging	Het
Wbp1l	T	A	19: 46,640,922 (GRCm39)	L68Q	probably damaging	Het
Wdfy3	A	T	5: 102,071,947 (GRCm39)	V981E	probably benign	Het
Zdhhc13	T	C	7: 48,458,613 (GRCm39)	S316P	probably damaging	Het
Zfp516	C	T	18: 83,005,486 (GRCm39)	R797C	probably benign	Het
Zp3r	A	G	1: 130,526,657 (GRCm39)	V182A	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
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
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

Posted On

2014-02-04