Mutagenetix > Incidental Mutation

Incidental Mutation 'R6615:Rdh7'

523978

Institutional Source

Beutler Lab

Gene Symbol

Rdh7

Ensembl Gene

ENSMUSG00000040134

Gene Name

retinol dehydrogenase 7

Synonyms

CRAD2

MMRRC Submission

044738-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R6615 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127719897-127724686 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 127720491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 294 (S294R)

Ref Sequence

ENSEMBL: ENSMUSP00000039252 (fasta)

Gene Model

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

AlphaFold

O88451

Predicted Effect

probably damaging
Transcript: ENSMUST00000047199
AA Change: S294R

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039252
Gene: ENSMUSG00000040134
AA Change: S294R

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

Meta Mutation Damage Score

0.1490

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.4%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Avl9	T	C	6: 56,730,870 (GRCm39)	V598A	probably benign	Het
Bcar3	T	A	3: 122,220,282 (GRCm39)	S60T	probably benign	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Homo
Calm3	A	G	7: 16,651,508 (GRCm39)		probably null	Het
Ccdc113	A	C	8: 96,272,620 (GRCm39)	E242D	probably benign	Het
Celsr1	C	T	15: 85,786,315 (GRCm39)		probably null	Het
Clhc1	T	A	11: 29,528,149 (GRCm39)	M559K	possibly damaging	Het
Dhx36	T	A	3: 62,396,338 (GRCm39)	I440L	probably benign	Het
Dnah7c	A	T	1: 46,554,599 (GRCm39)	T445S	probably benign	Het
Dnah7c	A	G	1: 46,688,511 (GRCm39)	S1894G	probably benign	Het
Dnah7c	C	A	1: 46,688,500 (GRCm39)	T1890K	probably benign	Het
Dsc2	T	A	18: 20,165,576 (GRCm39)	H843L	possibly damaging	Het
F11	T	C	8: 45,701,811 (GRCm39)	Y333C	probably benign	Het
Fbxo41	T	C	6: 85,455,505 (GRCm39)	T560A	possibly damaging	Het
Fbxo7	A	T	10: 85,880,398 (GRCm39)	H282L	possibly damaging	Het
Gmnc	T	G	16: 26,779,278 (GRCm39)	D243A	probably benign	Het
Hdac5	C	A	11: 102,087,882 (GRCm39)		probably null	Het
Krt87	A	G	15: 101,334,443 (GRCm39)	V188A	probably benign	Het
Lpxn	G	A	19: 12,802,163 (GRCm39)	V163M	probably benign	Het
Lrrk1	A	T	7: 65,931,396 (GRCm39)	L55Q	probably damaging	Het
Ltbp2	C	T	12: 84,860,091 (GRCm39)	C621Y	probably damaging	Het
Marchf8	A	G	6: 116,382,624 (GRCm39)	E147G	probably damaging	Het
Muc16	T	G	9: 18,558,484 (GRCm39)	H2603P	unknown	Het
Nipa1	T	A	7: 55,629,571 (GRCm39)	N181Y	probably damaging	Het
Nt5el	T	A	13: 105,248,993 (GRCm39)	N402K	probably damaging	Het
Or14c45	A	G	7: 86,176,120 (GRCm39)	T52A	probably benign	Het
Or2h2c	G	A	17: 37,422,494 (GRCm39)	P127S	probably damaging	Het
Or4k37	A	G	2: 111,159,457 (GRCm39)	D231G	probably benign	Het
Or51f23c-ps1	T	C	7: 102,430,994 (GRCm39)	F104L	probably damaging	Het
Or7g35	A	G	9: 19,496,285 (GRCm39)	I151V	probably benign	Het
Pcf11	T	A	7: 92,307,090 (GRCm39)	Q1026L	probably damaging	Het
Ptch1	T	G	13: 63,687,644 (GRCm39)	K378T	possibly damaging	Het
Ptprm	C	T	17: 67,660,951 (GRCm39)		probably null	Het
Pxmp2	C	A	5: 110,425,573 (GRCm39)	W154L	possibly damaging	Het
Rexo1	C	T	10: 80,379,848 (GRCm39)	R994Q	possibly damaging	Het
Sacs	A	G	14: 61,446,383 (GRCm39)	T2810A	probably benign	Het
Serpina3c	A	T	12: 104,117,980 (GRCm39)	H119Q	possibly damaging	Het
Slc12a2	T	G	18: 58,031,200 (GRCm39)	I335R	probably damaging	Het
Slc25a13	C	T	6: 6,073,454 (GRCm39)	R468Q	probably damaging	Het
Slc5a6	C	T	5: 31,194,174 (GRCm39)	V628I	probably benign	Het
Srsf2	T	C	11: 116,743,905 (GRCm39)		probably null	Het
Sugp2	A	G	8: 70,695,420 (GRCm39)	Q131R	possibly damaging	Het
Syne1	T	C	10: 5,251,340 (GRCm39)	R2525G	probably damaging	Het
Tars3	T	C	7: 65,327,890 (GRCm39)	F533S	probably damaging	Het
Tmem8b	G	T	4: 43,682,249 (GRCm39)	G82W	probably damaging	Het
Unc13c	A	G	9: 73,837,890 (GRCm39)	I987T	possibly damaging	Het
Usp44	T	C	10: 93,682,351 (GRCm39)	V267A	possibly damaging	Het
Wac	C	A	18: 7,868,884 (GRCm39)		probably null	Het
Xkr5	T	C	8: 18,983,569 (GRCm39)	I658V	probably benign	Het
Zbtb38	A	T	9: 96,568,707 (GRCm39)	Y792*	probably null	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
IGL02727:Rdh7	APN	10	127,723,487 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- ACTGGTTCTGAGTAGTATGGAAGC -3'
(R):5'- ACATGGATCTGGAGAAGCCC -3'

Sequencing Primer
(F):5'- CTGAGTAGTATGGAAGCTGAATTG -3'
(R):5'- CTCTTCGACTGGTCATGTAATAGCG -3'

Posted On

2018-06-22