Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02745:Rdh1'

306097

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rdh1

Ensembl Gene

ENSMUSG00000089789

Gene Name

retinol dehydrogenase 1 (all trans)

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL02745

Quality Score

Status

Chromosome

Chromosomal Location

127759721-127768297 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127765419 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 279 (T279S)

Ref Sequence

ENSEMBL: ENSMUSP00000073322 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073639] [ENSMUST00000128247]

AlphaFold

Q8CGV4

Predicted Effect

probably benign
Transcript: ENSMUST00000073639
AA Change: T279S

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000073322
Gene: ENSMUSG00000089789
AA Change: T279S

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:adh_short	30	222	5.7e-43	PFAM
Pfam:DUF1776	43	303	3.3e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128247

SMART Domains

Protein: ENSMUSP00000116574
Gene: ENSMUSG00000099009

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:adh_short	30	195	1.7e-23	PFAM
Pfam:DUF1776	43	303	3.3e-8	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit increased body weight, adipose tissue, and retinol levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	T	C	15: 83,228,081	E167G	probably benign	Het
Aldh1a1	A	G	19: 20,636,664		probably benign	Het
Ankrd44	T	C	1: 54,766,791	H152R	probably damaging	Het
Bpifb4	T	A	2: 153,947,221	L316Q	probably damaging	Het
C2cd5	A	T	6: 143,041,530	L155I	probably benign	Het
Chrdl2	T	A	7: 100,020,963	C98S	probably damaging	Het
Clnk	A	G	5: 38,736,319	S232P	probably benign	Het
Csf3	A	G	11: 98,702,477	D140G	probably damaging	Het
Dnah7b	T	A	1: 46,195,029		probably benign	Het
Fam129c	G	T	8: 71,605,038		probably null	Het
Fam208b	A	T	13: 3,585,140	S556T	probably benign	Het
Fetub	T	C	16: 22,937,926	V259A	probably damaging	Het
Gga2	G	T	7: 122,008,369	R108S	probably damaging	Het
Hip1r	C	A	5: 123,990,939		probably null	Het
Hsd17b3	A	G	13: 64,087,176	F62L	probably benign	Het
Krt16	A	T	11: 100,246,336		probably benign	Het
Man1a	C	T	10: 53,977,110	R304Q	probably damaging	Het
Med17	A	G	9: 15,265,346		probably benign	Het
Mrgprb4	T	C	7: 48,198,358	Y274C	probably damaging	Het
Myh8	C	T	11: 67,297,501	T996I	possibly damaging	Het
Nlrp4e	T	A	7: 23,321,291	L401Q	probably damaging	Het
Oas1h	G	A	5: 120,861,479	R9Q	probably benign	Het
Olfr1216	A	G	2: 89,013,888	Y59H	probably damaging	Het
Olfr1424	C	T	19: 12,059,201	V184I	probably benign	Het
Olfr919	T	C	9: 38,698,198	H56R	probably damaging	Het
Otor	A	G	2: 143,081,156	D122G	possibly damaging	Het
Pcdh18	T	A	3: 49,755,891	Q325L	probably damaging	Het
Ppfibp1	T	C	6: 147,022,354		probably benign	Het
Pramef25	A	T	4: 143,950,724	L95Q	probably damaging	Het
Prlr	T	A	15: 10,328,594	I385N	possibly damaging	Het
Rap1gds1	A	G	3: 138,956,241	V418A	probably damaging	Het
Slc17a3	C	A	13: 23,842,486	Q13K	probably benign	Het
Slc22a20	T	C	19: 5,972,873	N414S	probably damaging	Het
Slc4a1	C	A	11: 102,356,267	C498F	probably damaging	Het
Sp8	G	A	12: 118,849,591	G394S	probably damaging	Het
Ssh2	C	T	11: 77,455,407	T1406I	probably damaging	Het
Stra6	T	A	9: 58,152,038	D561E	probably damaging	Het
Stxbp5l	G	A	16: 37,186,654	Q726*	probably null	Het
Synpo2	G	A	3: 123,113,612	T685I	probably damaging	Het
Ttc27	A	G	17: 74,739,733	D263G	probably benign	Het
Ttn	G	A	2: 76,763,988	P18793S	possibly damaging	Het
Vmn2r109	A	G	17: 20,541,250	V615A	probably damaging	Het
Vmn2r76	T	G	7: 86,230,287	K268N	probably benign	Het
Zeb2	A	G	2: 44,994,475		probably benign	Het
Zfp286	C	A	11: 62,780,874	K124N	probably damaging	Het

Other mutations in Rdh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0077:Rdh1	UTSW	10	127760037	missense	probably damaging	1.00
R0481:Rdh1	UTSW	10	127763124	missense	probably damaging	1.00
R0511:Rdh1	UTSW	10	127764783	missense	probably benign
R0558:Rdh1	UTSW	10	127759941	missense	possibly damaging	0.88
R1569:Rdh1	UTSW	10	127763072	missense	probably benign
R1993:Rdh1	UTSW	10	127765345	missense	probably benign
R2164:Rdh1	UTSW	10	127760172	missense	possibly damaging	0.89
R3021:Rdh1	UTSW	10	127760208	missense	possibly damaging	0.91
R5268:Rdh1	UTSW	10	127759963	missense	possibly damaging	0.67
R6126:Rdh1	UTSW	10	127763214	missense	probably damaging	1.00
R6216:Rdh1	UTSW	10	127764753	missense	probably benign	0.00
R7017:Rdh1	UTSW	10	127763037	missense	probably benign	0.02
R7332:Rdh1	UTSW	10	127759885	start gained	probably benign
R7397:Rdh1	UTSW	10	127760178	missense	probably benign	0.24
R7721:Rdh1	UTSW	10	127760252	critical splice donor site	probably null
R7724:Rdh1	UTSW	10	127764707	missense	possibly damaging	0.46
R7873:Rdh1	UTSW	10	127760023	missense	probably benign	0.03

Posted On

2015-04-16