Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02727:Rdh7'

305241

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rdh7

Ensembl Gene

ENSMUSG00000040134

Gene Name

retinol dehydrogenase 7

Synonyms

CRAD2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

IGL02727

Quality Score

Status

Chromosome

Chromosomal Location

127719897-127724686 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127723487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 123 (W123R)

Ref Sequence

ENSEMBL: ENSMUSP00000039252 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047199]

AlphaFold

O88451

Predicted Effect

probably damaging
Transcript: ENSMUST00000047199
AA Change: W123R

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

SMART Domains

Protein: ENSMUSP00000039252
Gene: ENSMUSG00000040134
AA Change: W123R

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:adh_short	30	220	1.2e-40	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130374

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	T	C	1: 53,226,724 (GRCm39)	T13A	probably benign	Het
Aldh1l2	T	A	10: 83,342,469 (GRCm39)	K447I	probably damaging	Het
Ankrd17	A	G	5: 90,392,151 (GRCm39)	S1840P	possibly damaging	Het
Ash1l	A	G	3: 88,930,344 (GRCm39)	I1940M	probably benign	Het
Bfar	T	G	16: 13,506,791 (GRCm39)		probably null	Het
Bicra	G	T	7: 15,713,390 (GRCm39)	H937Q	possibly damaging	Het
Brip1	A	T	11: 86,043,562 (GRCm39)	M334K	probably benign	Het
Camsap2	T	G	1: 136,232,050 (GRCm39)	M182L	probably benign	Het
Chd6	A	T	2: 160,811,383 (GRCm39)	C1407S	probably damaging	Het
Cmya5	A	G	13: 93,234,753 (GRCm39)	S112P	possibly damaging	Het
Csmd1	A	T	8: 16,281,341 (GRCm39)	V728E	probably damaging	Het
Cyp2j6	T	A	4: 96,434,001 (GRCm39)	Q103L	probably benign	Het
Ddias	A	T	7: 92,515,830 (GRCm39)	I21K	probably damaging	Het
Derl2	A	C	11: 70,904,036 (GRCm39)		probably benign	Het
Dgka	A	T	10: 128,558,317 (GRCm39)		probably benign	Het
Dusp11	T	C	6: 85,938,474 (GRCm39)	D15G	probably damaging	Het
Enpp2	T	C	15: 54,773,577 (GRCm39)	D110G	probably damaging	Het
Fkbp11	A	T	15: 98,622,471 (GRCm39)	V134E	probably damaging	Het
Gm3248	T	C	14: 5,945,036 (GRCm38)	T49A	probably damaging	Het
Gm57858	T	A	3: 36,087,065 (GRCm39)	R176S	possibly damaging	Het
Irag2	T	C	6: 145,120,344 (GRCm39)	S520P	possibly damaging	Het
Luzp2	T	C	7: 54,821,939 (GRCm39)		probably benign	Het
Manea	T	A	4: 26,328,126 (GRCm39)	E305V	probably damaging	Het
Manea	C	A	4: 26,328,127 (GRCm39)	E305*	probably null	Het
Megf6	A	G	4: 154,337,606 (GRCm39)		probably null	Het
Mrpl3	G	T	9: 104,931,726 (GRCm39)	D59Y	probably damaging	Het
Myh9	T	C	15: 77,675,942 (GRCm39)	Y248C	probably benign	Het
Nbeal2	G	A	9: 110,468,353 (GRCm39)		probably benign	Het
Or10a5	G	T	7: 106,635,902 (GRCm39)	C180F	probably damaging	Het
Or1f19	T	A	16: 3,411,190 (GRCm39)	I310K	probably benign	Het
Or2y1c	G	T	11: 49,361,893 (GRCm39)	G305V	probably benign	Het
Or8b40	A	G	9: 38,027,808 (GRCm39)	T239A	probably damaging	Het
Pax8	C	A	2: 24,331,642 (GRCm39)	C147F	probably damaging	Het
Phf12	T	C	11: 77,914,493 (GRCm39)	V96A	possibly damaging	Het
Psg18	A	T	7: 18,079,875 (GRCm39)	I442K	probably damaging	Het
Pygl	T	A	12: 70,254,442 (GRCm39)		probably null	Het
Rassf2	C	A	2: 131,846,307 (GRCm39)	R150L	probably benign	Het
Saal1	T	C	7: 46,339,223 (GRCm39)		probably null	Het
Sall1	T	C	8: 89,757,383 (GRCm39)	D907G	probably damaging	Het
Spag1	T	A	15: 36,234,964 (GRCm39)	F876I	probably damaging	Het
Syncrip	G	A	9: 88,361,932 (GRCm39)	A61V	probably damaging	Het
Trbv3	A	T	6: 41,025,576 (GRCm39)	K55N	probably benign	Het
Vmn1r178	A	G	7: 23,593,871 (GRCm39)		probably null	Het
Vmn2r84	T	C	10: 130,229,995 (GRCm39)	D39G	possibly damaging	Het

Other mutations in Rdh7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02098:Rdh7	APN	10	127,720,607 (GRCm39)	missense	probably benign
IGL03211:Rdh7	APN	10	127,723,492 (GRCm39)	missense	probably benign	0.01
R0315:Rdh7	UTSW	10	127,724,265 (GRCm39)	missense	possibly damaging	0.67
R0394:Rdh7	UTSW	10	127,720,539 (GRCm39)	missense	probably benign	0.03
R0669:Rdh7	UTSW	10	127,720,598 (GRCm39)	missense	probably benign
R1662:Rdh7	UTSW	10	127,724,481 (GRCm39)	start codon destroyed	probably null	1.00
R1735:Rdh7	UTSW	10	127,720,454 (GRCm39)	missense	probably benign	0.00
R1778:Rdh7	UTSW	10	127,720,590 (GRCm39)	missense	probably benign	0.03
R2191:Rdh7	UTSW	10	127,724,467 (GRCm39)	missense	probably benign	0.04
R2268:Rdh7	UTSW	10	127,720,530 (GRCm39)	missense	probably benign	0.01
R4240:Rdh7	UTSW	10	127,721,671 (GRCm39)	missense	probably benign	0.00
R4817:Rdh7	UTSW	10	127,721,631 (GRCm39)	missense	probably benign
R4887:Rdh7	UTSW	10	127,721,590 (GRCm39)	missense	probably benign	0.00
R4970:Rdh7	UTSW	10	127,721,691 (GRCm39)	missense	probably benign	0.00
R6463:Rdh7	UTSW	10	127,721,650 (GRCm39)	missense	probably benign	0.33
R6615:Rdh7	UTSW	10	127,720,491 (GRCm39)	missense	probably damaging	0.98
R6835:Rdh7	UTSW	10	127,720,608 (GRCm39)	missense	probably benign
R6854:Rdh7	UTSW	10	127,724,250 (GRCm39)	missense	probably benign	0.35
R7172:Rdh7	UTSW	10	127,724,218 (GRCm39)	missense	possibly damaging	0.94
R8129:Rdh7	UTSW	10	127,723,370 (GRCm39)	missense	probably benign	0.16
R8186:Rdh7	UTSW	10	127,723,284 (GRCm39)	critical splice donor site	probably null
R8430:Rdh7	UTSW	10	127,723,495 (GRCm39)	missense	probably benign	0.00
R8888:Rdh7	UTSW	10	127,724,430 (GRCm39)	missense	probably benign
R8895:Rdh7	UTSW	10	127,724,430 (GRCm39)	missense	probably benign

Posted On

2015-04-16