Mutagenetix > Incidental Mutation

Incidental Mutation 'R4811:Rdh13'

369423

Institutional Source

Beutler Lab

Gene Symbol

Rdh13

Ensembl Gene

ENSMUSG00000008435

Gene Name

retinol dehydrogenase 13 (all-trans and 9-cis)

Synonyms

MMRRC Submission

042430-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R4811 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4424770-4445649 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4442653 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 94 (E94G)

Ref Sequence

ENSEMBL: ENSMUSP00000113433 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008579] [ENSMUST00000119485] [ENSMUST00000138798]

AlphaFold

Q8CEE7

Predicted Effect

probably benign
Transcript: ENSMUST00000008579
AA Change: E94G

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000008579
Gene: ENSMUSG00000008435
AA Change: E94G

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:KR	39	204	1.3e-7	PFAM
Pfam:adh_short	39	245	1.4e-37	PFAM
Pfam:Epimerase	41	231	1.4e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104772

Predicted Effect

probably benign
Transcript: ENSMUST00000119485
AA Change: E94G

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113433
Gene: ENSMUSG00000008435
AA Change: E94G

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:adh_short	39	115	7.8e-10	PFAM
low complexity region	117	126	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128299

Predicted Effect

probably benign
Transcript: ENSMUST00000138798
AA Change: E74G

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000114390
Gene: ENSMUSG00000008435
AA Change: E74G

Domain	Start	End	E-Value	Type
Pfam:KR	19	112	2.7e-7	PFAM
Pfam:adh_short	19	115	1.3e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146199

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147599

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154033

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171665

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial short-chain dehydrogenase/reductase, which catalyzes the reduction and oxidation of retinoids. The encoded enzyme may function in retinoic acid production and may also protect the mitochondria against oxidative stress. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit disintegration of the outer-plus-inner-segment and outer nuclear layers, reduced amplitudes of a- and b-waves under scotopic conditions and swollen mitochondria in the inner segment following exposure to intense light. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	G	A	15: 37,425,708		probably benign	Het
Adam3	C	T	8: 24,711,724	G208R	probably benign	Het
AI481877	T	C	4: 59,082,404	N408S	probably benign	Het
Arsg	G	T	11: 109,534,072	V290L	probably benign	Het
Cad	A	G	5: 31,074,690	T104A	probably benign	Het
Ccdc180	A	G	4: 45,928,020	N1185S	probably damaging	Het
Cdh18	A	G	15: 23,226,791	T113A	probably benign	Het
Crocc2	G	A	1: 93,205,896	A967T	probably damaging	Het
Cyp4f16	A	G	17: 32,545,106	T291A	probably benign	Het
Dcc	T	A	18: 71,299,483	H1300L	probably benign	Het
Ddx23	T	A	15: 98,647,471		probably null	Het
Dnhd1	T	G	7: 105,714,281	S4017A	probably damaging	Het
Erbb4	A	T	1: 68,254,544	F729L	probably damaging	Het
Ercc6	G	T	14: 32,574,929	R1292L	probably benign	Het
Fam186b	C	T	15: 99,280,237	V403M	probably benign	Het
Fam227a	T	C	15: 79,615,427	N576D	possibly damaging	Het
Fam46b	T	C	4: 133,486,370	L184P	probably benign	Het
Fbln1	A	G	15: 85,226,966		probably null	Het
Fbxw17	T	C	13: 50,425,633	V162A	probably benign	Het
Gas2l1	A	C	11: 5,064,436	I8S	probably damaging	Het
Gm7030	A	G	17: 36,127,776	L241S	probably damaging	Het
Golgb1	T	C	16: 36,891,419	L195P	probably damaging	Het
Gps2	A	T	11: 69,915,928	H233L	probably damaging	Het
Guf1	T	G	5: 69,564,509		probably null	Het
Il1rap	T	A	16: 26,701,238		probably null	Het
Ints14	A	G	9: 64,964,518	Y46C	probably damaging	Het
Kalrn	T	G	16: 34,356,969	Q293H	probably damaging	Het
Kank2	A	G	9: 21,775,747	L593P	probably damaging	Het
Krt19	T	C	11: 100,141,348	T297A	possibly damaging	Het
Lcp1	T	C	14: 75,200,408	V86A	probably damaging	Het
Lins1	T	A	7: 66,708,150	I11K	probably benign	Het
Lrba	T	C	3: 86,776,141	F2757L	probably damaging	Het
Lyst	T	C	13: 13,777,100	I3762T	probably benign	Het
Lyzl6	A	G	11: 103,635,025	S90P	possibly damaging	Het
Mfsd2a	T	A	4: 122,959,382	Q38L	probably benign	Het
Mtss1	A	G	15: 58,944,073	F546S	probably damaging	Het
Myo5a	G	A	9: 75,141,543		probably null	Het
Naip6	C	A	13: 100,285,791	G1245W	probably damaging	Het
Ndfip1	C	T	18: 38,451,592	T107I	probably benign	Het
Nek8	C	T	11: 78,167,718		probably null	Het
Nphs1	T	C	7: 30,460,429	V55A	probably damaging	Het
Nrp2	C	A	1: 62,719,081	H75Q	probably damaging	Het
Oas1e	C	T	5: 120,795,383	S39N	probably damaging	Het
Olfr1164	A	G	2: 88,093,532	F135L	probably benign	Het
Olfr1391	T	G	11: 49,327,748	S112R	possibly damaging	Het
Olfr309	T	C	7: 86,306,958	T52A	probably benign	Het
Olfr871	A	T	9: 20,212,753	I135F	probably damaging	Het
Pan3	T	A	5: 147,530,058	H632Q	probably damaging	Het
Paqr3	A	C	5: 97,095,983	S291A	probably benign	Het
Pcdh17	A	C	14: 84,447,935	D614A	probably damaging	Het
Pcyox1l	T	C	18: 61,697,535	E422G	possibly damaging	Het
Pgr	G	T	9: 8,900,843	E126*	probably null	Het
Pik3ap1	A	G	19: 41,302,497	V532A	possibly damaging	Het
Pla2g4c	T	C	7: 13,337,813	I186T	probably damaging	Het
Pnkd	G	A	1: 74,349,405		probably null	Het
Poc1a	A	G	9: 106,349,709	T334A	probably damaging	Het
Pou2f2	T	A	7: 25,097,686	K211*	probably null	Het
Rnf186	A	G	4: 138,967,187	S13G	probably benign	Het
Ryr2	T	C	13: 11,655,698	R3471G	probably damaging	Het
Sbf2	T	C	7: 110,372,535	T831A	probably damaging	Het
Sh3gl2	A	G	4: 85,398,166		probably benign	Het
Snn	T	C	16: 11,072,533	V72A	probably benign	Het
Sys1	T	A	2: 164,464,424	H99Q	possibly damaging	Het
Syt7	A	G	19: 10,435,567	K122R	probably damaging	Het
Tas1r2	T	A	4: 139,669,000	L550Q	probably damaging	Het
Thoc1	T	C	18: 9,993,438	I599T	probably damaging	Het
Tle3	C	T	9: 61,373,997		probably benign	Het
Tll1	A	C	8: 64,085,473	V379G	possibly damaging	Het
Tnfrsf21	G	A	17: 43,037,730	E78K	probably benign	Het
Tpgs2	A	G	18: 25,129,840		probably benign	Het
Trpm1	T	C	7: 64,208,306	L165P	probably damaging	Het
Trpm5	T	C	7: 143,080,219	Y750C	probably damaging	Het
Ttbk2	A	C	2: 120,740,070	S1201A	possibly damaging	Het
Ust	T	A	10: 8,245,941	H301L	probably damaging	Het
Vwa5a	T	C	9: 38,735,953	F543L	probably benign	Het
Yeats2	T	A	16: 20,152,895		probably null	Het
Zfp85	T	C	13: 67,749,626	Y109C	probably damaging	Het
Zfr2	T	A	10: 81,243,713	V362E	probably benign	Het
Znrf3	A	T	11: 5,287,420	C134S	probably benign	Het

Other mutations in Rdh13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01122:Rdh13	APN	7	4442695	missense	probably benign	0.00
IGL01339:Rdh13	APN	7	4427624	missense	probably damaging	1.00
IGL01778:Rdh13	APN	7	4430389	splice site	probably null
IGL02269:Rdh13	APN	7	4445498	missense	possibly damaging	0.95
IGL02749:Rdh13	APN	7	4427704	missense	probably damaging	1.00
IGL02820:Rdh13	APN	7	4435060	missense	probably damaging	1.00
R0524:Rdh13	UTSW	7	4444297	missense	probably damaging	1.00
R1698:Rdh13	UTSW	7	4427791	missense	probably damaging	0.97
R2111:Rdh13	UTSW	7	4445483	missense	probably benign
R2177:Rdh13	UTSW	7	4427667	missense	possibly damaging	0.80
R7359:Rdh13	UTSW	7	4427697	missense	probably benign	0.37
R8887:Rdh13	UTSW	7	4431523	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTAGCTGATCTTATGAAGAGAACC -3'
(R):5'- GAACACTGTGTGCAGGTTTAAG -3'

Sequencing Primer
(F):5'- TACATTTAGCCAGCGGACG -3'
(R):5'- CACTGTGTGCAGGTTTAAGGTGAG -3'

Posted On

2016-02-04