Mutagenetix > Incidental Mutation

Incidental Mutation 'R7548:Sag'

584284

Institutional Source

Beutler Lab

Gene Symbol

Sag

Ensembl Gene

ENSMUSG00000056055

Gene Name

S-antigen, retina and pineal gland (arrestin)

Synonyms

arrestin 1, rod arrestin, Arr1, visual arrestin 1, A930001K18Rik

MMRRC Submission

045619-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7548 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87731402-87772880 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87772638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 369 (V369I)

Ref Sequence

ENSEMBL: ENSMUSP00000076948 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077772] [ENSMUST00000177757]

AlphaFold

P20443

Predicted Effect

probably benign
Transcript: ENSMUST00000077772
AA Change: V369I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000076948
Gene: ENSMUSG00000056055
AA Change: V369I

Domain	Start	End	E-Value	Type
Pfam:Arrestin_N	23	181	2.8e-36	PFAM
Arrestin_C	200	361	8.24e-30	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177757
AA Change: V369I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000136729
Gene: ENSMUSG00000056055
AA Change: V369I

Domain	Start	End	E-Value	Type
Pfam:Arrestin_N	23	181	2.7e-34	PFAM
Arrestin_C	200	361	8.24e-30	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. S-arrestin, also known as S-antigen, is a major soluble photoreceptor protein that is involved in desensitization of the photoactivated transduction cascade. It is expressed in the retina and the pineal gland and inhibits coupling of rhodopsin to transducin in vitro. Additionally, S-arrestin is highly antigenic, and is capable of inducing experimental autoimmune uveoretinitis. Mutations in this gene have been associated with Oguchi disease, a rare autosomal recessive form of night blindness. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormalities in retinal rod cell outer segment morphology and rod electrophysiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	G	A	5: 115,016,059 (GRCm39)	S146N	possibly damaging	Het
Acr	T	C	15: 89,458,596 (GRCm39)	S426P	possibly damaging	Het
Arl6ip1	A	T	7: 117,725,733 (GRCm39)	I59N	probably damaging	Het
Atp2b4	A	T	1: 133,629,379 (GRCm39)	*81K	probably null	Het
Atp8a1	T	A	5: 67,973,071 (GRCm39)	R26*	probably null	Het
Atp8b4	T	A	2: 126,231,262 (GRCm39)	Q453L	probably benign	Het
B4galt4	A	G	16: 38,574,428 (GRCm39)	E134G	probably damaging	Het
Bcl9	G	A	3: 97,113,209 (GRCm39)	T1082I	probably damaging	Het
Catsperg2	A	G	7: 29,409,251 (GRCm39)	F617L	probably benign	Het
Ccdc15	T	C	9: 37,188,723 (GRCm39)	N800S	probably benign	Het
Cd300ld	T	C	11: 114,878,248 (GRCm39)	D88G	probably benign	Het
Ceacam2	A	T	7: 25,229,958 (GRCm39)	V216E	probably benign	Het
Cecr2	T	A	6: 120,738,675 (GRCm39)	M356K		Het
Cenpm	T	C	15: 82,128,880 (GRCm39)	M1V	probably null	Het
Ces2e	A	G	8: 105,658,538 (GRCm39)	E401G	probably benign	Het
Cib3	C	A	8: 72,961,041 (GRCm39)	L65F	probably damaging	Het
Clip4	C	G	17: 72,096,963 (GRCm39)	T29R	probably benign	Het
Cnot7	A	G	8: 40,953,874 (GRCm39)	I131T	probably damaging	Het
Cntn5	A	T	9: 9,673,415 (GRCm39)		probably null	Het
Col11a1	A	C	3: 113,917,409 (GRCm39)	H732P	unknown	Het
Coq4	A	T	2: 29,685,420 (GRCm39)	T145S	possibly damaging	Het
Cwf19l1	T	C	19: 44,098,989 (GRCm39)	D527G	probably benign	Het
Cyp3a25	T	C	5: 145,923,735 (GRCm39)	I303V	probably damaging	Het
Dab2	C	T	15: 6,459,399 (GRCm39)	T437I	possibly damaging	Het
Dlc1	A	G	8: 37,051,809 (GRCm39)	S190P	probably benign	Het
Dnah6	G	A	6: 73,004,423 (GRCm39)	L3847F	probably damaging	Het
Dnmbp	T	C	19: 43,877,838 (GRCm39)	E411G	probably benign	Het
Dpp8	T	C	9: 64,944,517 (GRCm39)	Y95H	probably damaging	Het
Emb	T	A	13: 117,408,590 (GRCm39)	D310E	possibly damaging	Het
Eml4	C	A	17: 83,732,766 (GRCm39)	Q140K	probably benign	Het
Epb41l3	T	C	17: 69,517,271 (GRCm39)	S100P	probably damaging	Het
Fat4	A	T	3: 39,035,263 (GRCm39)	T2972S	probably benign	Het
Fignl2	T	C	15: 100,951,079 (GRCm39)	E401G	unknown	Het
Fryl	T	A	5: 73,349,105 (GRCm39)	D19V	unknown	Het
Gck	C	T	11: 5,852,040 (GRCm39)	G16R		Het
Gm3371	T	C	14: 44,648,145 (GRCm39)	M1V	probably null	Het
Hlcs	T	A	16: 93,933,876 (GRCm39)	K661*	probably null	Het
Il17re	C	G	6: 113,443,348 (GRCm39)	P363A	probably damaging	Het
Kif24	C	T	4: 41,423,601 (GRCm39)	E217K	possibly damaging	Het
Klhdc7b	T	C	15: 89,272,907 (GRCm39)	I605T	probably damaging	Het
Krt31	T	C	11: 99,940,346 (GRCm39)	T170A	probably damaging	Het
Lgals3bp	T	C	11: 118,287,669 (GRCm39)	D126G	probably benign	Het
Lig1	T	A	7: 13,035,344 (GRCm39)	F601Y	possibly damaging	Het
Lrp6	A	G	6: 134,484,471 (GRCm39)	I384T	probably damaging	Het
Mfap5	A	T	6: 122,502,993 (GRCm39)	T102S	probably benign	Het
Mfsd6	A	G	1: 52,702,446 (GRCm39)	F600S	possibly damaging	Het
Nlrp4a	G	A	7: 26,149,604 (GRCm39)	E404K	probably damaging	Het
Nme3	T	C	17: 25,115,522 (GRCm39)	L12P	probably damaging	Het
Nxpe5	A	T	5: 138,249,493 (GRCm39)	T428S	probably benign	Het
Or1e26	G	A	11: 73,479,802 (GRCm39)	T254I	possibly damaging	Het
Or4c122	T	C	2: 89,079,430 (GRCm39)	T191A	probably benign	Het
Prr5	C	A	15: 84,641,259 (GRCm39)	P175Q	possibly damaging	Het
Psmc6	T	C	14: 45,572,375 (GRCm39)	Y110H	probably benign	Het
Pthlh	T	A	6: 147,158,653 (GRCm39)	R102S	possibly damaging	Het
Ric8b	G	T	10: 84,783,736 (GRCm39)	S198I	probably damaging	Het
Rrp7a	C	A	15: 83,001,871 (GRCm39)	R212S	possibly damaging	Het
Rubcnl	T	C	14: 75,279,792 (GRCm39)	Y392H	probably benign	Het
Sar1b	A	G	11: 51,680,094 (GRCm39)	E140G	probably benign	Het
Sema3d	T	A	5: 12,627,783 (GRCm39)	M658K	unknown	Het
Skor2	C	T	18: 76,948,600 (GRCm39)	S774F	possibly damaging	Het
Slc1a6	G	T	10: 78,650,265 (GRCm39)	R501L	probably damaging	Het
Spata31d1b	A	G	13: 59,864,468 (GRCm39)	M539V	probably benign	Het
Spocd1	T	C	4: 129,823,602 (GRCm39)	L133P		Het
Sptlc1	A	T	13: 53,521,968 (GRCm39)	N96K	possibly damaging	Het
Stox1	A	T	10: 62,501,946 (GRCm39)	S205T	probably damaging	Het
Tec	T	C	5: 72,917,693 (GRCm39)	M509V	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Ttc34	T	A	4: 154,940,816 (GRCm39)	L499Q	probably damaging	Het
Uqcc1	A	G	2: 155,751,309 (GRCm39)	C120R	probably damaging	Het
Usp39	C	T	6: 72,321,996 (GRCm39)	S46N	possibly damaging	Het
Zbtb5	T	C	4: 44,994,724 (GRCm39)	E220G	probably benign	Het
Zfp287	A	T	11: 62,604,701 (GRCm39)	C735*	probably null	Het

Other mutations in Sag

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00684:Sag	APN	1	87,752,146 (GRCm39)	critical splice acceptor site	probably null
IGL00822:Sag	APN	1	87,772,748 (GRCm39)	splice site	probably null
IGL01140:Sag	APN	1	87,751,086 (GRCm39)	missense	probably benign	0.22
IGL01612:Sag	APN	1	87,733,071 (GRCm39)	missense	probably damaging	0.98
IGL02183:Sag	APN	1	87,756,197 (GRCm39)	splice site	probably null
IGL02893:Sag	APN	1	87,762,315 (GRCm39)	missense	probably benign	0.01
R0049:Sag	UTSW	1	87,762,340 (GRCm39)	missense	probably damaging	0.99
R0049:Sag	UTSW	1	87,762,340 (GRCm39)	missense	probably damaging	0.99
R0091:Sag	UTSW	1	87,742,402 (GRCm39)	missense	probably damaging	0.96
R0531:Sag	UTSW	1	87,762,351 (GRCm39)	critical splice donor site	probably null
R0609:Sag	UTSW	1	87,740,713 (GRCm39)	missense	probably damaging	0.98
R1328:Sag	UTSW	1	87,738,016 (GRCm39)	splice site	probably benign
R1395:Sag	UTSW	1	87,756,163 (GRCm39)	missense	probably benign	0.01
R1748:Sag	UTSW	1	87,759,662 (GRCm39)	missense	probably damaging	1.00
R1858:Sag	UTSW	1	87,742,570 (GRCm39)	missense	probably benign
R2020:Sag	UTSW	1	87,733,037 (GRCm39)	missense	probably damaging	1.00
R3854:Sag	UTSW	1	87,752,240 (GRCm39)	splice site	probably benign
R4021:Sag	UTSW	1	87,749,027 (GRCm39)	critical splice acceptor site	probably null
R4298:Sag	UTSW	1	87,772,737 (GRCm39)	missense	probably benign
R4630:Sag	UTSW	1	87,762,340 (GRCm39)	missense	probably damaging	0.99
R5352:Sag	UTSW	1	87,740,715 (GRCm39)	missense	probably benign	0.01
R5680:Sag	UTSW	1	87,749,059 (GRCm39)	missense	possibly damaging	0.83
R6164:Sag	UTSW	1	87,752,175 (GRCm39)	missense	probably damaging	1.00
R6407:Sag	UTSW	1	87,742,528 (GRCm39)	missense	probably benign
R7431:Sag	UTSW	1	87,749,059 (GRCm39)	missense	possibly damaging	0.83
R8122:Sag	UTSW	1	87,762,289 (GRCm39)	missense	probably damaging	1.00
R8679:Sag	UTSW	1	87,738,032 (GRCm39)	missense	probably benign	0.27
R8723:Sag	UTSW	1	87,751,175 (GRCm39)	critical splice donor site	probably null
R8878:Sag	UTSW	1	87,756,158 (GRCm39)	missense	probably benign	0.01
R8891:Sag	UTSW	1	87,759,683 (GRCm39)	missense	probably damaging	1.00
R8995:Sag	UTSW	1	87,733,052 (GRCm39)	missense	probably benign	0.00
R9036:Sag	UTSW	1	87,749,054 (GRCm39)	missense	probably damaging	1.00
R9123:Sag	UTSW	1	87,751,043 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCATCCAGGGAATGACACG -3'
(R):5'- CCCAGAGACTTTATTTCTGGGAGG -3'

Sequencing Primer
(F):5'- GGAATGACACGGTCCCTCTTC -3'
(R):5'- GCATAACTTTGAGAGTCTACCGG -3'

Posted On

2019-10-17