Mutagenetix > Incidental Mutation

Incidental Mutation 'R1716:Retsat'

191005

Institutional Source

Beutler Lab

Gene Symbol

Retsat

Ensembl Gene

ENSMUSG00000056666

Gene Name

retinol saturase (all trans retinol 13,14 reductase)

Synonyms

0610039N19Rik

MMRRC Submission

039749-MU

Accession Numbers

Essential gene?

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

Stock #

R1716 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72575585-72584471 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72583063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 36 (Y36F)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070524] [ENSMUST00000070597] [ENSMUST00000176168] [ENSMUST00000176364]

AlphaFold

Q64FW2

Predicted Effect

probably benign
Transcript: ENSMUST00000070524

SMART Domains

Protein: ENSMUSP00000068487
Gene: ENSMUSG00000056429

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	58	74	N/A	INTRINSIC
low complexity region	238	260	N/A	INTRINSIC
transmembrane domain	300	319	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000070597
AA Change: Y408F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000068568
Gene: ENSMUSG00000056666
AA Change: Y408F

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: ENSMUST00000129071

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172588

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175824

Predicted Effect

probably benign
Transcript: ENSMUST00000176168
AA Change: Y199F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000135421
Gene: ENSMUSG00000056666
AA Change: Y199F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176364
AA Change: Y347F

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000134847
Gene: ENSMUSG00000056666
AA Change: Y347F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000205878
AA Change: Y36F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206112

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	G	7: 78,731,946 (GRCm39)	T2A	unknown	Het
Adgrf3	T	A	5: 30,402,549 (GRCm39)	Q493L	probably benign	Het
Ak6	T	C	13: 100,792,177 (GRCm39)	S207P	probably benign	Het
Ang	A	G	14: 51,338,937 (GRCm39)	D26G	probably benign	Het
Ang	T	C	14: 51,338,957 (GRCm39)	F33L	probably damaging	Het
Arhgef38	T	A	3: 132,846,598 (GRCm39)	Y389F	probably benign	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Bicd2	C	A	13: 49,531,786 (GRCm39)	H343N	probably benign	Het
Casp4	G	A	9: 5,308,919 (GRCm39)		probably null	Het
Cd22	A	G	7: 30,577,103 (GRCm39)	F68S	probably damaging	Het
Cd46	T	A	1: 194,760,117 (GRCm39)	Q245L	probably benign	Het
Cntnap2	A	T	6: 47,084,826 (GRCm39)	R1096*	probably null	Het
Cntnap3	A	G	13: 64,909,816 (GRCm39)	V763A	probably damaging	Het
Cyp3a11	T	C	5: 145,805,776 (GRCm39)	T171A	probably benign	Het
Defa30	A	G	8: 21,625,431 (GRCm39)	Y65C	probably damaging	Het
Defb18	A	T	1: 18,306,875 (GRCm39)	M27K	probably benign	Het
Dnah17	A	G	11: 117,923,424 (GRCm39)	S4071P	probably benign	Het
Dnah7b	T	A	1: 46,230,943 (GRCm39)	D1400E	probably damaging	Het
Dpysl5	C	T	5: 30,935,338 (GRCm39)	T147I	probably benign	Het
Dsg4	C	T	18: 20,595,518 (GRCm39)	R574*	probably null	Het
Entrep2	A	T	7: 64,426,633 (GRCm39)		probably null	Het
Epm2a	A	G	10: 11,324,580 (GRCm39)	E223G	probably benign	Het
Etl4	T	C	2: 20,748,492 (GRCm39)	S75P	probably damaging	Het
Fbxw15	T	A	9: 109,386,204 (GRCm39)	M312L	probably benign	Het
Fcgr4	C	T	1: 170,847,672 (GRCm39)	T90I	probably damaging	Het
Fras1	T	A	5: 96,700,584 (GRCm39)	D201E	probably benign	Het
Gadl1	A	T	9: 115,835,576 (GRCm39)	K335*	probably null	Het
Gcsam	T	G	16: 45,440,356 (GRCm39)	V133G	probably damaging	Het
Gml	G	T	15: 74,685,665 (GRCm39)	L107I	possibly damaging	Het
Golga2	T	A	2: 32,192,909 (GRCm39)	L409Q	probably damaging	Het
Gtf2a1l	A	T	17: 89,002,008 (GRCm39)	Q241L	probably benign	Het
Gtf3c3	A	G	1: 54,438,419 (GRCm39)	Y799H	probably damaging	Het
Guca1b	T	G	17: 47,702,126 (GRCm39)		probably benign	Het
Igdcc4	C	A	9: 65,034,179 (GRCm39)	H617Q	probably damaging	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Itga2b	A	C	11: 102,351,603 (GRCm39)	I574S	probably benign	Het
Kcnk7	A	T	19: 5,756,859 (GRCm39)	I283F	probably damaging	Het
Kirrel3	T	A	9: 34,934,843 (GRCm39)	L450M	probably damaging	Het
Lmntd1	A	T	6: 145,365,600 (GRCm39)	S176R	probably damaging	Het
Lrrc39	C	T	3: 116,373,216 (GRCm39)	T292I	probably benign	Het
Ltbp1	A	T	17: 75,622,019 (GRCm39)	H801L	probably benign	Het
Macf1	T	A	4: 123,295,196 (GRCm39)	Q3318L	probably damaging	Het
Man1b1	T	A	2: 25,235,032 (GRCm39)	N282K	probably benign	Het
Map2k6	A	T	11: 110,388,727 (GRCm39)	E223V	probably damaging	Het
Marf1	C	A	16: 13,960,450 (GRCm39)	R531S	possibly damaging	Het
Mfge8	G	A	7: 78,792,191 (GRCm39)	R245C	probably damaging	Het
Mogat1	T	G	1: 78,514,681 (GRCm39)	N318K	probably benign	Het
Myh4	T	A	11: 67,141,135 (GRCm39)	S732R	possibly damaging	Het
Myt1l	T	A	12: 29,861,537 (GRCm39)	D106E	unknown	Het
Ndc1	T	C	4: 107,241,992 (GRCm39)	F302L	probably damaging	Het
Ndrg4	C	T	8: 96,438,956 (GRCm39)	A290V	probably benign	Het
Nfia	A	T	4: 97,951,365 (GRCm39)	K397N	probably damaging	Het
Nlrp4e	A	T	7: 23,020,458 (GRCm39)	Q315L	possibly damaging	Het
Oga	C	A	19: 45,740,613 (GRCm39)	K907N	probably benign	Het
Or10p22	A	C	10: 128,826,721 (GRCm39)	*313C	probably null	Het
Or1ad8	T	A	11: 50,898,679 (GRCm39)	N293K	probably damaging	Het
Peg3	T	C	7: 6,710,780 (GRCm39)	I1481V	possibly damaging	Het
Phldb2	C	T	16: 45,595,413 (GRCm39)	G883D	probably benign	Het
Pik3c2b	T	A	1: 133,022,564 (GRCm39)	Y1169N	probably damaging	Het
Plcl1	A	T	1: 55,734,997 (GRCm39)	I113F	probably damaging	Het
Pomt2	T	C	12: 87,171,610 (GRCm39)	I457V	probably benign	Het
Ppil1	T	C	17: 29,480,809 (GRCm39)	N38S	possibly damaging	Het
Prf1	A	G	10: 61,136,231 (GRCm39)	N169S	probably benign	Het
Prmt8	A	C	6: 127,703,486 (GRCm39)		probably null	Het
Ptprg	T	A	14: 12,154,360 (GRCm38)	S694T	probably benign	Het
Rab12	A	T	17: 66,807,315 (GRCm39)	M138K	possibly damaging	Het
Reln	T	C	5: 22,160,093 (GRCm39)	T2159A	probably damaging	Het
Rgs14	A	T	13: 55,526,696 (GRCm39)	Q116L	probably damaging	Het
Rlbp1	A	T	7: 79,025,684 (GRCm39)	N252K	probably damaging	Het
Rtraf	A	G	14: 19,862,242 (GRCm39)	L215P	probably damaging	Het
Sec1	A	T	7: 45,328,789 (GRCm39)	M86K	probably benign	Het
Sec24b	A	T	3: 129,834,665 (GRCm39)	S42T	possibly damaging	Het
Serpinb9d	T	C	13: 33,380,500 (GRCm39)	S129P	probably damaging	Het
Slc35f5	T	G	1: 125,512,269 (GRCm39)	D356E	possibly damaging	Het
Smpd4	T	C	16: 17,460,365 (GRCm39)	S694P	probably damaging	Het
Spag6	G	T	2: 18,750,420 (GRCm39)		probably null	Het
Spata31d1c	T	C	13: 65,181,030 (GRCm39)	I43T	possibly damaging	Het
Ssh1	T	C	5: 114,090,081 (GRCm39)	D314G	possibly damaging	Het
Tnfrsf17	G	A	16: 11,137,595 (GRCm39)	D111N	probably benign	Het
Ttn	A	G	2: 76,553,635 (GRCm39)	I30994T	probably damaging	Het
Ttn	A	T	2: 76,614,320 (GRCm39)	F8737L	probably damaging	Het
Ush1c	G	T	7: 45,845,152 (GRCm39)	F890L	probably benign	Het
Usp36	C	T	11: 118,162,957 (GRCm39)		probably null	Het
Vmn2r115	T	C	17: 23,566,795 (GRCm39)	Y436H	probably benign	Het
Vmn2r94	T	A	17: 18,477,635 (GRCm39)	M259L	probably benign	Het
Wwp1	T	C	4: 19,659,698 (GRCm39)	T197A	probably benign	Het
Zbtb37	T	A	1: 160,847,814 (GRCm39)	M398L	probably benign	Het
Zfp804b	C	T	5: 6,819,673 (GRCm39)	C1130Y	probably benign	Het
Zfp9	A	G	6: 118,441,712 (GRCm39)	C317R	probably damaging	Het
Zscan20	T	C	4: 128,480,334 (GRCm39)	H719R	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
IGL02212:Retsat	APN	6	72,578,693 (GRCm39)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- CTGTAACTCCTGCACAGCAATCCTC -3'
(R):5'- GAGCCTTTTCCTTGGGCATAGAGAC -3'

Sequencing Primer
(F):5'- TGCACAGCAATCCTCACTGG -3'
(R):5'- TTCCTTGGGCATAGAGACATAGC -3'

Posted On

2014-05-14