Mutagenetix > Incidental Mutation

Incidental Mutation 'R0531:Sag'

49132

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

038723-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0531 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87731402-87772880 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 87762351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136729 (fasta)

Gene Model

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

AlphaFold

P20443

Predicted Effect

probably null
Transcript: ENSMUST00000077772

SMART Domains

Protein: ENSMUSP00000076948
Gene: ENSMUSG00000056055

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 null
Transcript: ENSMUST00000077772

SMART Domains

Protein: ENSMUSP00000076948
Gene: ENSMUSG00000056055

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 null
Transcript: ENSMUST00000077772

SMART Domains

Protein: ENSMUSP00000076948
Gene: ENSMUSG00000056055

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

noncoding transcript
Transcript: ENSMUST00000128761

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155393

Predicted Effect

probably null
Transcript: ENSMUST00000177757

SMART Domains

Protein: ENSMUSP00000136729
Gene: ENSMUSG00000056055

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

Predicted Effect

probably null
Transcript: ENSMUST00000177757

SMART Domains

Protein: ENSMUSP00000136729
Gene: ENSMUSG00000056055

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

Predicted Effect

probably null
Transcript: ENSMUST00000177757

SMART Domains

Protein: ENSMUSP00000136729
Gene: ENSMUSG00000056055

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

Meta Mutation Damage Score

0.9489

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

100% (69/69)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,892,127 (GRCm39)	N130D	probably benign	Het
Acot6	C	A	12: 84,148,075 (GRCm39)	D110E	probably benign	Het
Agrn	T	A	4: 156,263,891 (GRCm39)	N124I	probably benign	Het
Astn1	G	T	1: 158,427,959 (GRCm39)	G710V	probably damaging	Het
Bcar3	T	C	3: 122,220,148 (GRCm39)	V15A	probably benign	Het
Best3	T	C	10: 116,840,280 (GRCm39)		probably benign	Het
Bltp1	T	A	3: 37,090,974 (GRCm39)	I743N	probably damaging	Het
Cenpa	T	C	5: 30,829,837 (GRCm39)	F39L	possibly damaging	Het
Cfap44	A	T	16: 44,221,789 (GRCm39)	M1L	probably benign	Het
Chrnd	A	G	1: 87,122,541 (GRCm39)	I107M	probably damaging	Het
Col11a2	A	G	17: 34,277,351 (GRCm39)		probably benign	Het
Dnah10	G	A	5: 124,889,787 (GRCm39)		probably null	Het
Entpd8	A	G	2: 24,974,781 (GRCm39)	Y404C	probably damaging	Het
Fam118a	T	C	15: 84,932,633 (GRCm39)	I125T	possibly damaging	Het
Fam161a	G	A	11: 22,970,298 (GRCm39)	E159K	possibly damaging	Het
Fkbp5	A	T	17: 28,657,003 (GRCm39)	H71Q	probably benign	Het
Frem2	A	T	3: 53,427,375 (GRCm39)	Y2926N	probably damaging	Het
Gap43	A	T	16: 42,112,691 (GRCm39)	D23E	probably damaging	Het
Glt8d1	T	C	14: 30,728,461 (GRCm39)	F3S	probably benign	Het
Gm11555	C	T	11: 99,540,844 (GRCm39)		probably benign	Het
Gtpbp1	G	A	15: 79,604,292 (GRCm39)	G667S	probably damaging	Het
H2-T24	A	C	17: 36,326,463 (GRCm39)	S145R	probably benign	Het
Inpp5b	A	T	4: 124,689,249 (GRCm39)	N843I	probably damaging	Het
Jak3	C	T	8: 72,139,620 (GRCm39)		probably benign	Het
Krt8	T	A	15: 101,909,883 (GRCm39)	M174L	probably benign	Het
Ktn1	C	T	14: 47,901,398 (GRCm39)	T52I	probably damaging	Het
Lrp4	T	C	2: 91,305,523 (GRCm39)		probably benign	Het
Nefh	G	A	11: 4,890,240 (GRCm39)	A793V	probably damaging	Het
Niban1	T	C	1: 151,593,835 (GRCm39)	V840A	probably benign	Het
Notch1	A	G	2: 26,356,584 (GRCm39)	S1678P	probably benign	Het
Notch2	C	T	3: 98,009,767 (GRCm39)		probably benign	Het
Nrxn3	T	C	12: 88,762,112 (GRCm39)	F53S	probably damaging	Het
Or10d4c	A	G	9: 39,558,168 (GRCm39)	T49A	probably benign	Het
Or2ab1	A	G	11: 58,488,674 (GRCm39)	I151V	probably benign	Het
Or5ac25	T	A	16: 59,182,171 (GRCm39)	N137Y	probably damaging	Het
Or6z5	A	T	7: 6,477,234 (GRCm39)	I42F	possibly damaging	Het
Or8g17	G	T	9: 38,930,472 (GRCm39)	R122S	probably damaging	Het
Or9i16	C	T	19: 13,865,116 (GRCm39)	V153I	possibly damaging	Het
Pak4	T	A	7: 28,267,479 (GRCm39)	I62F	possibly damaging	Het
Pcdhb12	T	A	18: 37,570,371 (GRCm39)	F506I	probably damaging	Het
Per1	A	T	11: 68,995,016 (GRCm39)	D632V	probably damaging	Het
Plec	A	G	15: 76,061,498 (GRCm39)	M2678T	probably benign	Het
Plg	A	G	17: 12,630,334 (GRCm39)		probably benign	Het
Prmt1	A	T	7: 44,627,048 (GRCm39)	S304R	probably damaging	Het
Prr27	T	C	5: 87,990,537 (GRCm39)	F50L	probably benign	Het
Prune2	T	C	19: 16,984,117 (GRCm39)	L159P	probably damaging	Het
Ptpn12	A	T	5: 21,203,481 (GRCm39)	N432K	possibly damaging	Het
Rfwd3	A	G	8: 112,020,621 (GRCm39)		probably null	Het
Rims2	A	T	15: 39,430,426 (GRCm39)	D1170V	probably damaging	Het
Sall4	C	T	2: 168,598,256 (GRCm39)	A195T	probably benign	Het
Sbf2	G	A	7: 109,966,530 (GRCm39)		probably benign	Het
Scaper	A	T	9: 55,517,158 (GRCm39)	D599E	possibly damaging	Het
Sema7a	G	A	9: 57,867,876 (GRCm39)	S484N	possibly damaging	Het
Senp1	A	G	15: 97,962,761 (GRCm39)		probably benign	Het
Senp6	A	G	9: 80,031,166 (GRCm39)	T623A	probably damaging	Het
Siae	A	G	9: 37,539,090 (GRCm39)	D95G	probably benign	Het
Slc26a2	T	C	18: 61,331,451 (GRCm39)	D660G	probably damaging	Het
Slc3a1	T	C	17: 85,336,077 (GRCm39)	F73S	possibly damaging	Het
Slfn5	A	T	11: 82,851,866 (GRCm39)	Q664L	probably damaging	Het
Spire1	T	C	18: 67,624,375 (GRCm39)	I512V	probably damaging	Het
Srpra	A	G	9: 35,124,797 (GRCm39)	T133A	probably benign	Het
Stag1	A	G	9: 100,836,300 (GRCm39)	*175W	probably null	Het
Stk32c	C	A	7: 138,700,636 (GRCm39)	V316F	probably damaging	Het
Tekt1	A	C	11: 72,236,420 (GRCm39)	N347K	possibly damaging	Het
Tmem81	C	G	1: 132,435,567 (GRCm39)	I124M	probably damaging	Het
Tnpo2	T	A	8: 85,776,786 (GRCm39)	C498S	probably damaging	Het
Tra2b	G	A	16: 22,065,955 (GRCm39)	R281*	probably null	Het
Ubr5	A	T	15: 37,991,588 (GRCm39)	I1985N	probably benign	Het
Ush2a	T	G	1: 188,175,378 (GRCm39)	S1159A	probably benign	Het
Vmn1r15	C	T	6: 57,235,236 (GRCm39)	P35S	probably benign	Het
Vmn1r6	A	T	6: 56,979,583 (GRCm39)	I60L	probably benign	Het
Vps8	A	G	16: 21,278,561 (GRCm39)		probably benign	Het
Xkr7	T	C	2: 152,874,272 (GRCm39)	V113A	possibly damaging	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
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
R7548:Sag	UTSW	1	87,772,638 (GRCm39)	missense	probably benign	0.01
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'- TGGCAGGCAAAGGAATGGTTCTC -3'
(R):5'- TTCAGCCTCCCAAAGTGGTTCACG -3'

Sequencing Primer
(F):5'- AAGGAATGGTTCTCACCCTG -3'
(R):5'- GTGCAGATGTACACCCACTTG -3'

Posted On

2013-06-12