Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02212:Retsat'

285521

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Retsat

Ensembl Gene

ENSMUSG00000056666

Gene Name

retinol saturase (all trans retinol 13,14 reductase)

Synonyms

0610039N19Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

IGL02212

Quality Score

Status

Chromosome

Chromosomal Location

72575585-72584471 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 72578693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 135 (L135*)

Ref Sequence

ENSEMBL: ENSMUSP00000134847 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070597] [ENSMUST00000070990] [ENSMUST00000114069] [ENSMUST00000141833] [ENSMUST00000148108] [ENSMUST00000152705] [ENSMUST00000176364] [ENSMUST00000176168]

AlphaFold

Q64FW2

Predicted Effect

probably null
Transcript: ENSMUST00000070597
AA Change: L196*

SMART Domains

Protein: ENSMUSP00000068568
Gene: ENSMUSG00000056666
AA Change: L196*

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:FAD_binding_2	68	113	8.9e-9	PFAM
Pfam:NAD_binding_8	71	136	1.3e-15	PFAM
Pfam:Amino_oxidase	76	587	2.7e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000070990

SMART Domains

Protein: ENSMUSP00000067768
Gene: ENSMUSG00000056698

Domain	Start	End	E-Value	Type
Pfam:ELMO_CED12	151	314	3.3e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114069

SMART Domains

Protein: ENSMUSP00000109703
Gene: ENSMUSG00000056698

Domain	Start	End	E-Value	Type
Pfam:ELMO_CED12	154	313	1.2e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129071

Predicted Effect

probably benign
Transcript: ENSMUST00000141833

Predicted Effect

probably benign
Transcript: ENSMUST00000148108

Predicted Effect

probably benign
Transcript: ENSMUST00000152705

Predicted Effect

probably null
Transcript: ENSMUST00000176364
AA Change: L135*

SMART Domains

Protein: ENSMUSP00000134847
Gene: ENSMUSG00000056666
AA Change: L135*

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
SCOP:d1d5ta1	91	290	7e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175824

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206112

Predicted Effect

probably benign
Transcript: ENSMUST00000205878

Predicted Effect

probably benign
Transcript: ENSMUST00000176168

SMART Domains

Protein: ENSMUSP00000135421
Gene: ENSMUSG00000056666

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
SCOP:d1gpea1	95	175	6e-3	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are deficient in the production of all-trans-13,14-dihydroretinol from dietary vitamin A and exhibit increased adiposity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,079,233 (GRCm39)	D1079V	probably damaging	Het
Adam18	T	C	8: 25,127,195 (GRCm39)	H467R	probably benign	Het
Ambra1	T	G	2: 91,747,706 (GRCm39)	D1056E	probably damaging	Het
Aoah	A	C	13: 21,187,071 (GRCm39)	N456T	probably benign	Het
Batf2	T	A	19: 6,221,991 (GRCm39)	F267Y	probably damaging	Het
Bbs7	C	T	3: 36,648,558 (GRCm39)	V397I	probably benign	Het
Bbs9	T	A	9: 22,723,808 (GRCm39)	D824E	probably benign	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Brip1	A	T	11: 86,029,841 (GRCm39)	V601E	possibly damaging	Het
Bub1	A	G	2: 127,647,271 (GRCm39)	F773L	probably damaging	Het
Cadps	A	T	14: 12,522,345 (GRCm38)	D606E	possibly damaging	Het
Cenps	T	G	4: 149,213,303 (GRCm39)	D54A	probably damaging	Het
Cep170	T	A	1: 176,563,502 (GRCm39)	N1504I	probably damaging	Het
Cttnbp2	A	G	6: 18,382,748 (GRCm39)	V1340A	possibly damaging	Het
D630003M21Rik	A	T	2: 158,052,091 (GRCm39)	S667T	probably benign	Het
Defa38	C	T	8: 21,585,276 (GRCm39)		probably benign	Het
Dgkb	A	G	12: 38,189,413 (GRCm39)	Y272C	probably damaging	Het
Dlx3	A	G	11: 95,011,467 (GRCm39)	D107G	probably benign	Het
Drd3	A	T	16: 43,582,675 (GRCm39)	N56I	probably benign	Het
Elavl4	T	A	4: 110,063,609 (GRCm39)	I331F	probably damaging	Het
Fam167a	T	G	14: 63,700,078 (GRCm39)	S213A	probably damaging	Het
Fasn	A	T	11: 120,698,729 (GRCm39)	I2489N	probably damaging	Het
Fbxo43	T	C	15: 36,151,957 (GRCm39)	K587E	probably damaging	Het
Fscn2	A	G	11: 120,252,881 (GRCm39)	D116G	probably damaging	Het
Galm	T	C	17: 80,457,546 (GRCm39)	V194A	probably benign	Het
Gpr180	T	A	14: 118,397,588 (GRCm39)	F361I	probably damaging	Het
Gpx2	A	T	12: 76,839,682 (GRCm39)	C105*	probably null	Het
Gsdmc2	A	T	15: 63,699,911 (GRCm39)		probably benign	Het
Hes2	T	G	4: 152,244,982 (GRCm39)	S150R	probably damaging	Het
Ighv1-56	C	T	12: 115,206,417 (GRCm39)		probably benign	Het
Inhbb	A	T	1: 119,345,713 (GRCm39)	V192D	probably benign	Het
Itgal	A	T	7: 126,900,152 (GRCm39)	M137L	probably benign	Het
Jak2	A	G	19: 29,265,382 (GRCm39)	N470D	probably benign	Het
Jph1	T	C	1: 17,161,981 (GRCm39)	E227G	probably damaging	Het
Kcnj6	A	T	16: 94,633,346 (GRCm39)	I237N	probably damaging	Het
Kctd8	G	T	5: 69,498,031 (GRCm39)	P205Q	probably benign	Het
Klhdc1	A	T	12: 69,297,540 (GRCm39)	N37I	probably damaging	Het
Lrp2	T	A	2: 69,281,608 (GRCm39)	H3921L	probably benign	Het
Lrp8os2	T	C	4: 107,664,245 (GRCm39)		probably benign	Het
Man2a2	A	C	7: 80,012,056 (GRCm39)	D700E	probably benign	Het
Mast1	A	T	8: 85,648,026 (GRCm39)	L485Q	probably damaging	Het
Mmp3	A	G	9: 7,450,165 (GRCm39)	D299G	probably damaging	Het
Mptx2	T	A	1: 173,102,248 (GRCm39)	D147V	possibly damaging	Het
Mrpl9	T	A	3: 94,351,124 (GRCm39)		probably null	Het
Mup21	T	G	4: 62,066,829 (GRCm39)	E137A	probably damaging	Het
Mutyh	T	A	4: 116,672,803 (GRCm39)	V52D	probably damaging	Het
Nalcn	T	A	14: 123,752,742 (GRCm39)	S340C	probably damaging	Het
Neb	A	G	2: 52,198,323 (GRCm39)	Y474H	probably damaging	Het
Nol8	A	G	13: 49,815,626 (GRCm39)	E560G	possibly damaging	Het
Ntn4	A	G	10: 93,480,711 (GRCm39)	D145G	possibly damaging	Het
Nup93	G	A	8: 95,038,290 (GRCm39)		probably null	Het
Or1j17	A	G	2: 36,578,194 (GRCm39)	Y60C	probably damaging	Het
Or2n1b	C	A	17: 38,459,746 (GRCm39)	T89K	probably benign	Het
Or2y14	A	T	11: 49,404,737 (GRCm39)	I91F	probably damaging	Het
Or52b2	C	T	7: 104,986,350 (GRCm39)	C191Y	probably damaging	Het
Pcdhb8	T	A	18: 37,489,465 (GRCm39)	V40E	possibly damaging	Het
Peg3	C	T	7: 6,714,415 (GRCm39)	R269H	probably benign	Het
Piwil1	T	A	5: 128,827,334 (GRCm39)	F648I	possibly damaging	Het
Psd4	A	T	2: 24,295,326 (GRCm39)	K827*	probably null	Het
Rtp3	A	G	9: 110,816,389 (GRCm39)		probably benign	Het
Samd14	A	G	11: 94,914,176 (GRCm39)	Y305C	probably damaging	Het
Satb1	T	A	17: 52,082,319 (GRCm39)	Q445L	possibly damaging	Het
Shbg	A	G	11: 69,508,035 (GRCm39)	L110P	probably damaging	Het
Slc17a6	T	A	7: 51,317,218 (GRCm39)	I413N	possibly damaging	Het
Slu7	A	T	11: 43,331,469 (GRCm39)	Q201L	probably benign	Het
Spg11	T	C	2: 121,938,638 (GRCm39)	T439A	probably benign	Het
Sstr5	A	T	17: 25,710,647 (GRCm39)	L194Q	possibly damaging	Het
Tjp2	A	T	19: 24,116,150 (GRCm39)	L13Q	probably damaging	Het
Tnk2	G	A	16: 32,498,960 (GRCm39)	V758I	probably damaging	Het
Ttll8	C	A	15: 88,801,450 (GRCm39)	V413L	probably benign	Het
Wiz	T	C	17: 32,587,109 (GRCm39)	D67G	probably damaging	Het

Other mutations in Retsat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01775:Retsat	APN	6	72,584,300 (GRCm39)	missense	probably damaging	1.00
IGL01816:Retsat	APN	6	72,578,588 (GRCm39)	missense	probably benign	0.02
IGL01993:Retsat	APN	6	72,581,978 (GRCm39)	unclassified	probably benign
IGL02719:Retsat	APN	6	72,580,642 (GRCm39)	missense	possibly damaging	0.94
IGL02870:Retsat	APN	6	72,584,007 (GRCm39)	missense	probably damaging	1.00
IGL03352:Retsat	APN	6	72,575,666 (GRCm39)	missense	probably damaging	0.96
R0135:Retsat	UTSW	6	72,579,755 (GRCm39)	missense	probably damaging	0.99
R0487:Retsat	UTSW	6	72,583,414 (GRCm39)	missense	probably damaging	0.96
R1173:Retsat	UTSW	6	72,580,634 (GRCm39)	unclassified	probably benign
R1716:Retsat	UTSW	6	72,583,063 (GRCm39)	missense	probably damaging	0.99
R1718:Retsat	UTSW	6	72,579,654 (GRCm39)	missense	probably benign	0.00
R1744:Retsat	UTSW	6	72,583,558 (GRCm39)	nonsense	probably null
R4976:Retsat	UTSW	6	72,578,609 (GRCm39)	missense	probably damaging	1.00
R5434:Retsat	UTSW	6	72,578,518 (GRCm39)	missense	probably damaging	0.96
R5669:Retsat	UTSW	6	72,582,993 (GRCm39)	missense	probably benign	0.02
R6247:Retsat	UTSW	6	72,581,918 (GRCm39)	missense	probably benign	0.06
R6675:Retsat	UTSW	6	72,578,672 (GRCm39)	missense	probably benign	0.00
R7200:Retsat	UTSW	6	72,583,002 (GRCm39)	missense	possibly damaging	0.86
R7939:Retsat	UTSW	6	72,581,919 (GRCm39)	missense	probably benign
R9055:Retsat	UTSW	6	72,583,936 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16