Mutagenetix > Incidental Mutation

Incidental Mutation 'R0091:Sag'

20185

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

038378-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0091 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

87731402-87772880 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87742402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 58 (V58A)

Ref Sequence

ENSEMBL: ENSMUSP00000136729 (fasta)

Gene Model

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

AlphaFold

P20443

Predicted Effect

probably damaging
Transcript: ENSMUST00000077772
AA Change: V58A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000076948
Gene: ENSMUSG00000056055
AA Change: V58A

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: ENSMUST00000130886

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144334

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155393

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156381

Predicted Effect

probably damaging
Transcript: ENSMUST00000177757
AA Change: V58A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000136729
Gene: ENSMUSG00000056055
AA Change: V58A

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

0.2095

Coding Region Coverage

1x: 99.1%
3x: 97.9%
10x: 94.4%
20x: 84.5%

Validation Efficiency

98% (86/88)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,932,179 (GRCm39)	S278P	possibly damaging	Het
Adam11	A	G	11: 102,663,665 (GRCm39)	Y281C	probably damaging	Het
Adam6a	G	T	12: 113,507,849 (GRCm39)	R74L	possibly damaging	Het
Adcy5	T	C	16: 35,091,368 (GRCm39)		probably null	Het
Adrb2	A	G	18: 62,312,090 (GRCm39)	L245P	probably benign	Het
Aebp2	T	C	6: 140,589,800 (GRCm39)		probably null	Het
Arhgap23	A	G	11: 97,343,070 (GRCm39)	T240A	probably benign	Het
Atp10a	T	C	7: 58,423,794 (GRCm39)		probably benign	Het
Atp13a4	T	A	16: 29,274,213 (GRCm39)	Y416F	probably damaging	Het
Atp5mc2	A	C	15: 102,571,492 (GRCm39)	L133R	probably damaging	Het
Bicral	A	T	17: 47,136,233 (GRCm39)	Y326N	probably damaging	Het
Chst4	T	C	8: 110,757,297 (GRCm39)	S189G	probably damaging	Het
Cnot1	A	T	8: 96,489,772 (GRCm39)	I477N	probably damaging	Het
Col7a1	G	T	9: 108,796,574 (GRCm39)		probably benign	Het
Dchs1	A	G	7: 105,415,301 (GRCm39)		probably benign	Het
Dcn	A	G	10: 97,342,551 (GRCm39)	N169S	probably benign	Het
Dnajc6	T	C	4: 101,473,974 (GRCm39)		probably benign	Het
Egln3	A	G	12: 54,228,432 (GRCm39)	F225L	probably benign	Het
Erap1	G	A	13: 74,816,171 (GRCm39)	R100Q	possibly damaging	Het
Erc2	A	T	14: 27,498,781 (GRCm39)		probably null	Het
Fto	G	A	8: 92,168,435 (GRCm39)		probably null	Het
Gdap1l1	C	T	2: 163,288,011 (GRCm39)	P80S	probably damaging	Het
Gm1123	T	C	9: 98,905,405 (GRCm39)	E35G	possibly damaging	Het
Hhipl1	A	G	12: 108,288,156 (GRCm39)		probably benign	Het
Ift80	A	T	3: 68,822,008 (GRCm39)	L679Q	probably damaging	Het
Il18	A	G	9: 50,488,013 (GRCm39)		probably benign	Het
Inhbb	T	C	1: 119,345,125 (GRCm39)	Y388C	probably damaging	Het
Kmt2d	G	T	15: 98,742,360 (GRCm39)		probably benign	Het
Krt20	A	G	11: 99,328,640 (GRCm39)	V95A	probably damaging	Het
Lck	A	T	4: 129,449,474 (GRCm39)	S274R	possibly damaging	Het
Lrp1	T	A	10: 127,376,848 (GRCm39)	N4243I	probably damaging	Het
Lrrfip2	G	A	9: 111,043,311 (GRCm39)	V506I	probably damaging	Het
Ltbp2	A	G	12: 84,840,507 (GRCm39)	C1000R	probably damaging	Het
Matn3	G	A	12: 9,002,105 (GRCm39)	D106N	probably damaging	Het
Mical2	A	G	7: 111,980,503 (GRCm39)	E49G	probably benign	Het
Mmadhc	A	G	2: 50,182,869 (GRCm39)	S36P	probably damaging	Het
Morn1	T	C	4: 155,229,629 (GRCm39)	Y433H	probably damaging	Het
Mpo	A	G	11: 87,692,436 (GRCm39)	M525V	probably benign	Het
Myo5a	C	T	9: 75,068,774 (GRCm39)	R659C	probably damaging	Het
Obox6	T	C	7: 15,568,364 (GRCm39)	S171G	probably benign	Het
Or1j18	A	G	2: 36,624,917 (GRCm39)	N195D	probably damaging	Het
Or4k36	T	A	2: 111,146,518 (GRCm39)	D231E	probably benign	Het
Or5g29	A	T	2: 85,421,696 (GRCm39)	N271Y	probably benign	Het
P2ry14	A	G	3: 59,023,314 (GRCm39)	Y49H	probably benign	Het
Papss2	C	T	19: 32,611,302 (GRCm39)	T17I	possibly damaging	Het
Pcid2	T	C	8: 13,135,392 (GRCm39)	T206A	probably benign	Het
Pex6	A	G	17: 47,022,844 (GRCm39)	E140G	probably damaging	Het
Ppp1r3b	A	G	8: 35,851,821 (GRCm39)	Y220C	probably damaging	Het
Prdx2	T	G	8: 85,698,330 (GRCm39)		probably benign	Het
Ptbp2	A	T	3: 119,514,310 (GRCm39)	L471Q	probably damaging	Het
Rbm33	T	A	5: 28,557,604 (GRCm39)	D232E	possibly damaging	Het
Rnf214	T	A	9: 45,809,791 (GRCm39)		probably null	Het
Rora	G	A	9: 69,281,330 (GRCm39)	R314H	probably damaging	Het
Rufy4	T	C	1: 74,168,095 (GRCm39)		probably benign	Het
Serpina3i	C	T	12: 104,231,423 (GRCm39)	T20M	probably damaging	Het
Slc4a5	A	G	6: 83,254,537 (GRCm39)	N578S	probably benign	Het
Soat2	A	G	15: 102,066,574 (GRCm39)	Y285C	probably damaging	Het
Syk	A	G	13: 52,794,769 (GRCm39)	Y478C	probably damaging	Het
Syne4	G	A	7: 30,018,344 (GRCm39)	G362E	probably damaging	Het
Tas2r126	A	T	6: 42,412,036 (GRCm39)	M190L	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Ttc19	A	G	11: 62,199,910 (GRCm39)	D218G	probably damaging	Het
Tut1	T	C	19: 8,942,800 (GRCm39)	V629A	probably damaging	Het
Txndc11	T	C	16: 10,905,968 (GRCm39)	N521D	probably benign	Het
Ushbp1	T	C	8: 71,841,614 (GRCm39)	E405G	possibly damaging	Het
Usp46	C	T	5: 74,163,918 (GRCm39)	R246Q	probably benign	Het
Utrn	T	C	10: 12,610,948 (GRCm39)	D469G	probably damaging	Het
Vmn2r104	T	A	17: 20,262,075 (GRCm39)	I352F	possibly damaging	Het
Wdr4	G	A	17: 31,715,890 (GRCm39)	T398I	probably benign	Het
Ythdc1	T	A	5: 86,968,560 (GRCm39)		probably benign	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
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
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'- CCATTTCTTCCAGGCAGCAGAGAC -3'
(R):5'- AGGGTGCAATTTACAGGCCAACAG -3'

Sequencing Primer
(F):5'- GCAGCAGAGACTGGCAC -3'
(R):5'- CAATTTACAGGCCAACAGATGTG -3'

Posted On

2013-04-11