Mutagenetix > Incidental Mutation

Incidental Mutation 'R5669:Retsat'

442506

Institutional Source

Beutler Lab

Gene Symbol

Retsat

Ensembl Gene

ENSMUSG00000056666

Gene Name

retinol saturase (all trans retinol 13,14 reductase)

Synonyms

0610039N19Rik

MMRRC Submission

043312-MU

Accession Numbers

Essential gene?

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

Stock #

R5669 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72575585-72584471 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72582993 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 176 (S176G)

Ref Sequence

ENSEMBL: ENSMUSP00000135421 (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: S385G

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

SMART Domains

Protein: ENSMUSP00000068568
Gene: ENSMUSG00000056666
AA Change: S385G

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: S176G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000135421
Gene: ENSMUSG00000056666
AA Change: S176G

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: S324G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000134847
Gene: ENSMUSG00000056666
AA Change: S324G

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

Predicted Effect

unknown
Transcript: ENSMUST00000205878
AA Change: S13G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206112

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Akap9	T	A	5: 4,100,540 (GRCm39)	L2734*	probably null	Het
Aldh1a1	T	C	19: 20,588,284 (GRCm39)	I25T	probably damaging	Het
Astl	G	T	2: 127,189,199 (GRCm39)	R175L	probably damaging	Het
BC035947	A	T	1: 78,474,550 (GRCm39)	C661S	probably damaging	Het
Cd160	C	T	3: 96,716,214 (GRCm39)		probably benign	Het
Cdc42bpb	C	T	12: 111,268,447 (GRCm39)		probably null	Het
Cdip1	T	A	16: 4,586,679 (GRCm39)	I149F	probably damaging	Het
Cfap65	T	C	1: 74,964,127 (GRCm39)	Y607C	probably damaging	Het
Col6a5	A	G	9: 105,803,197 (GRCm39)	I1256T	unknown	Het
Copb1	A	G	7: 113,836,820 (GRCm39)	V336A	probably damaging	Het
Ddx42	A	T	11: 106,132,645 (GRCm39)	D556V	probably damaging	Het
Dlk1	T	C	12: 109,425,964 (GRCm39)	V279A	probably benign	Het
Fbll1	T	C	11: 35,688,411 (GRCm39)	N284S	probably benign	Het
Fbxw21	A	T	9: 108,974,578 (GRCm39)	I314N	probably benign	Het
Foxa3	T	C	7: 18,748,176 (GRCm39)	T317A	probably benign	Het
Gpr37	A	T	6: 25,669,351 (GRCm39)	C498S	probably benign	Het
Hapln3	G	T	7: 78,767,244 (GRCm39)		probably null	Het
Igkv4-54	A	G	6: 69,608,832 (GRCm39)	V29A	possibly damaging	Het
Itgb8	T	A	12: 119,154,363 (GRCm39)	I225F	probably damaging	Het
Kcnk3	A	G	5: 30,779,693 (GRCm39)	T248A	probably damaging	Het
Kcnv1	T	C	15: 44,977,648 (GRCm39)	Q130R	possibly damaging	Het
Lrp1b	T	C	2: 41,001,050 (GRCm39)	H2058R	probably damaging	Het
Macf1	T	A	4: 123,370,018 (GRCm39)	E1581V	probably damaging	Het
Mga	A	G	2: 119,733,907 (GRCm39)	N252D	probably damaging	Het
Nadsyn1	C	T	7: 143,361,168 (GRCm39)	G335S	probably damaging	Het
Or10ag53	T	C	2: 87,082,785 (GRCm39)	V168A	probably benign	Het
Or7e165	T	C	9: 19,695,053 (GRCm39)	F208S	probably benign	Het
Pak5	G	A	2: 135,958,204 (GRCm39)	P295S	probably damaging	Het
Pcsk1	T	A	13: 75,278,221 (GRCm39)	S595T	probably benign	Het
Pepd	T	C	7: 34,740,099 (GRCm39)	V324A	probably benign	Het
Pml	C	T	9: 58,154,346 (GRCm39)	D176N	probably benign	Het
Popdc3	T	A	10: 45,192,529 (GRCm39)	I163N	probably damaging	Het
Ppp1r13l	A	C	7: 19,106,947 (GRCm39)	T481P	probably benign	Het
Pramel13	T	C	4: 144,122,413 (GRCm39)	I44V	probably benign	Het
Prlh	A	G	1: 90,880,842 (GRCm39)	T5A	probably benign	Het
Prom1	A	G	5: 44,170,285 (GRCm39)	F638S	possibly damaging	Het
Prpf8	T	A	11: 75,395,564 (GRCm39)	L1897H	probably damaging	Het
Ret	T	C	6: 118,161,204 (GRCm39)	T91A	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rnf213	T	C	11: 119,349,611 (GRCm39)	L3823P	possibly damaging	Het
Rnf31	C	T	14: 55,834,161 (GRCm39)	A653V	probably damaging	Het
Rps6kl1	T	C	12: 85,194,641 (GRCm39)	D90G	probably damaging	Het
Scarb1	A	G	5: 125,377,451 (GRCm39)	Y194H	probably damaging	Het
Scube2	C	T	7: 109,424,646 (GRCm39)	A556T	probably benign	Het
Serpinb1a	A	G	13: 33,029,299 (GRCm39)	L243P	probably damaging	Het
Slc39a4	A	C	15: 76,498,363 (GRCm39)	L358R	probably damaging	Het
Slitrk5	A	G	14: 111,919,055 (GRCm39)	D893G	probably damaging	Het
Srgap1	C	A	10: 121,640,755 (GRCm39)	V681L	probably benign	Het
Tmprss6	A	T	15: 78,339,156 (GRCm39)	M262K	possibly damaging	Het
Ttf2	T	A	3: 100,858,433 (GRCm39)	K719*	probably null	Het
Vmn1r62	T	A	7: 5,678,736 (GRCm39)	L139*	probably null	Het
Zfp1004	A	G	2: 150,034,098 (GRCm39)	I140V	probably benign	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
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'- AGGTCTCTGCCAGGATCCTATAG -3'
(R):5'- TCTCATTCCTAGAACCGTGTGG -3'

Sequencing Primer
(F):5'- CTCTGCCAGGATCCTATAGAAATAG -3'
(R):5'- CCTAGAACCGTGTGGAGGGTG -3'

Posted On

2016-11-09