Mutagenetix > Incidental Mutation

Incidental Mutation 'R7939:Retsat'

648933

Institutional Source

Beutler Lab

Gene Symbol

Retsat

Ensembl Gene

ENSMUSG00000056666

Gene Name

retinol saturase (all trans retinol 13,14 reductase)

Synonyms

0610039N19Rik

MMRRC Submission

045985-MU

Accession Numbers

Essential gene?

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

Stock #

R7939 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72575585-72584471 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 72581919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 355 (M355I)

Ref Sequence

ENSEMBL: ENSMUSP00000068568 (fasta)

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: M355I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000068568
Gene: ENSMUSG00000056666
AA Change: M355I

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

probably benign
Transcript: ENSMUST00000176168
AA Change: M146I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000135421
Gene: ENSMUSG00000056666
AA Change: M146I

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: M294I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000134847
Gene: ENSMUSG00000056666
AA Change: M294I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000205878

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	G	8: 87,275,433 (GRCm39)	I415T	probably damaging	Het
Ackr3	A	G	1: 90,142,287 (GRCm39)	S249G	probably benign	Het
Adgre1	G	T	17: 57,756,938 (GRCm39)	A732S	probably damaging	Het
Ahnak	T	A	19: 8,991,448 (GRCm39)	L4244*	probably null	Het
Aldh3a2	C	A	11: 61,115,424 (GRCm39)	C511F	probably benign	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Ankrd11	A	T	8: 123,617,812 (GRCm39)	H2013Q	probably damaging	Het
Atp5mc3	A	G	2: 73,740,206 (GRCm39)		probably null	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Chtf18	A	T	17: 25,941,111 (GRCm39)	I629N	probably damaging	Het
Clstn3	T	C	6: 124,439,158 (GRCm39)	Y33C	probably damaging	Het
Cmc2	T	C	8: 117,616,513 (GRCm39)	R71G	unknown	Het
Cts7	A	T	13: 61,504,364 (GRCm39)	N66K	probably damaging	Het
Cysltr2	C	T	14: 73,267,399 (GRCm39)	V104I	possibly damaging	Het
Dnai4	G	A	4: 102,953,798 (GRCm39)	Q134*	probably null	Het
Dnm3	C	T	1: 162,123,165 (GRCm39)	V460I	possibly damaging	Het
Ecel1	C	T	1: 87,077,256 (GRCm39)	V651I	probably benign	Het
Ext2	G	A	2: 93,560,601 (GRCm39)	R522C	probably damaging	Het
Farp2	T	C	1: 93,487,983 (GRCm39)	L70P	probably damaging	Het
Fnip1	T	C	11: 54,393,093 (GRCm39)	Y510H	probably damaging	Het
Gm15446	T	C	5: 110,090,360 (GRCm39)	V204A	probably benign	Het
Gm29394	T	C	15: 57,912,046 (GRCm39)	K53E	unknown	Het
Gm39115	T	C	7: 141,689,768 (GRCm39)	T2A	unknown	Het
Helz2	A	G	2: 180,879,543 (GRCm39)	W692R	probably damaging	Het
Htra2	A	T	6: 83,028,545 (GRCm39)	Y428N	probably damaging	Het
Khdrbs2	T	A	1: 32,212,056 (GRCm39)	S20T	probably benign	Het
Kifap3	C	A	1: 163,643,427 (GRCm39)	Y217*	probably null	Het
Mast2	A	T	4: 116,287,668 (GRCm39)	S136T	probably benign	Het
Mesp1	C	T	7: 79,442,734 (GRCm39)	W181*	probably null	Het
Mtch1	A	C	17: 29,559,806 (GRCm39)	S158A	probably damaging	Het
Mtmr10	C	A	7: 63,963,899 (GRCm39)	S211R	probably benign	Het
Mtmr9	C	A	14: 63,771,973 (GRCm39)	Q204H	probably damaging	Het
Myo5a	A	G	9: 75,097,182 (GRCm39)	N43D		Het
Myom3	G	T	4: 135,534,589 (GRCm39)		probably null	Het
Neb	T	C	2: 52,076,073 (GRCm39)	D5903G	probably damaging	Het
Niban1	T	G	1: 151,581,775 (GRCm39)	L457R	probably damaging	Het
Noxred1	A	G	12: 87,268,105 (GRCm39)	V342A	probably benign	Het
Nsd2	T	A	5: 34,012,933 (GRCm39)	S421R	probably benign	Het
Or10a3	T	C	7: 108,480,481 (GRCm39)	I111V	probably benign	Het
Or5p55	T	A	7: 107,566,986 (GRCm39)	C127*	probably null	Het
Oxa1l	T	C	14: 54,604,876 (GRCm39)	C270R	probably benign	Het
Pcdha3	T	A	18: 37,080,933 (GRCm39)	N558K	probably damaging	Het
Pcdha7	T	C	18: 37,109,063 (GRCm39)	V696A	possibly damaging	Het
Pigl	T	C	11: 62,349,506 (GRCm39)	L74P	probably damaging	Het
Plch2	G	T	4: 155,087,235 (GRCm39)	R339S	possibly damaging	Het
Prdm11	G	T	2: 92,843,074 (GRCm39)	D128E	probably damaging	Het
Ptdss1	A	G	13: 67,143,411 (GRCm39)	T415A	probably benign	Het
Ptprj	A	T	2: 90,295,009 (GRCm39)	W400R	probably damaging	Het
Qdpr	T	C	5: 45,607,407 (GRCm39)	Y13C	probably damaging	Het
Slc24a1	T	G	9: 64,835,648 (GRCm39)	E826D	probably benign	Het
Taok3	T	C	5: 117,331,902 (GRCm39)	F40L	probably benign	Het
Tecta	T	C	9: 42,299,519 (GRCm39)	T190A	probably damaging	Het
Tmem220	C	A	11: 66,920,850 (GRCm39)	T85K	probably damaging	Het
Traip	T	C	9: 107,833,077 (GRCm39)	F38L	probably benign	Het
Tspan1	A	T	4: 116,024,209 (GRCm39)	I18N	probably damaging	Het
Ttc24	A	T	3: 87,981,945 (GRCm39)	D40E	possibly damaging	Het
Ttn	A	T	2: 76,542,737 (GRCm39)	Y33416*	probably null	Het
Ttn	A	T	2: 76,576,105 (GRCm39)	D24929E	probably damaging	Het
Vmn2r16	T	A	5: 109,487,705 (GRCm39)	S193T	possibly damaging	Het
Vmn2r83	T	A	10: 79,314,651 (GRCm39)	W300R	probably damaging	Het
Vps13a	C	T	19: 16,718,155 (GRCm39)	V522M	possibly damaging	Het
Wdr17	C	A	8: 55,140,677 (GRCm39)	R232L	probably damaging	Het
Wtap	A	T	17: 13,200,683 (GRCm39)	Y33*	probably null	Het
Zc3h10	A	T	10: 128,380,376 (GRCm39)	V327E	probably damaging	Het
Zfp658	T	C	7: 43,224,301 (GRCm39)	S859P	possibly damaging	Het
Zfp874b	A	T	13: 67,622,622 (GRCm39)	C225*	probably null	Het
Zfp980	A	T	4: 145,428,582 (GRCm39)	H437L	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
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
R9055:Retsat	UTSW	6	72,583,936 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCACACTTTCCTGGGTTGTG -3'
(R):5'- TGTTCCTGGTAGCACAGACTAG -3'

Sequencing Primer
(F):5'- GGCTTCATACATGTTAGACAAGCGC -3'
(R):5'- TTCCTGGTAGCACAGACTAGAGAGAG -3'

Posted On

2020-09-15