Mutagenetix > Incidental Mutation

Incidental Mutation 'R8891:Sag'

677662

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

068753-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8891 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87731402-87772880 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87759683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 307 (L307Q)

Ref Sequence

ENSEMBL: ENSMUSP00000076948 (fasta)

Gene Model

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

AlphaFold

P20443

Predicted Effect

probably damaging
Transcript: ENSMUST00000077772
AA Change: L307Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076948
Gene: ENSMUSG00000056055
AA Change: L307Q

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 damaging
Transcript: ENSMUST00000177757
AA Change: L307Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136729
Gene: ENSMUSG00000056055
AA Change: L307Q

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: 99.8%
20x: 99.4%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 137,772,520 (GRCm39)	K570*	probably null	Het
Abi1	T	C	2: 22,861,262 (GRCm39)	I99V	probably damaging	Het
Abtb3	G	A	10: 85,223,958 (GRCm39)	G256R	unknown	Het
Adgrg7	T	A	16: 56,572,762 (GRCm39)	E351D	probably benign	Het
Ankrd34c	T	G	9: 89,612,143 (GRCm39)	K66T	probably damaging	Het
Asap2	C	T	12: 21,162,144 (GRCm39)	R34W	probably damaging	Het
Atr	A	G	9: 95,787,813 (GRCm39)	T1469A	probably benign	Het
Ccdc168	T	C	1: 44,096,284 (GRCm39)	I1605V	probably benign	Het
Celsr1	G	T	15: 85,822,194 (GRCm39)	R1708S	probably benign	Het
Chmp2a	T	A	7: 12,767,840 (GRCm39)	E28D	probably benign	Het
Cldn24	A	T	8: 48,275,281 (GRCm39)	N35I	probably benign	Het
Coa6	G	C	8: 127,149,570 (GRCm39)		probably null	Het
Copa	C	T	1: 171,946,818 (GRCm39)	R1009C	probably damaging	Het
Crybb2	G	A	5: 113,209,913 (GRCm39)	T150M	possibly damaging	Het
Ctnnd2	A	T	15: 30,620,076 (GRCm39)	T143S	probably benign	Het
Eid3	A	G	10: 82,702,992 (GRCm39)	N151S	probably damaging	Het
Fbxo17	G	T	7: 28,434,733 (GRCm39)	V173L	possibly damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Galntl6	T	C	8: 58,415,433 (GRCm39)	N240S	probably damaging	Het
Gck	G	T	11: 5,851,733 (GRCm39)	S445R	probably damaging	Het
Gm5114	C	A	7: 39,057,718 (GRCm39)	V634F	probably benign	Het
Gnat2	G	A	3: 108,005,634 (GRCm39)	D200N		Het
H13	A	G	2: 152,546,049 (GRCm39)	N390S	probably benign	Het
Helz	T	A	11: 107,552,842 (GRCm39)	M1206K	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kank1	G	A	19: 25,387,439 (GRCm39)	G371R	probably benign	Het
Kif13b	A	G	14: 64,982,326 (GRCm39)	T513A	probably damaging	Het
L3mbtl4	T	C	17: 68,762,781 (GRCm39)	S105P	possibly damaging	Het
Lpo	T	A	11: 87,697,848 (GRCm39)	E653V	probably benign	Het
Lyst	A	G	13: 13,887,435 (GRCm39)	D3088G	possibly damaging	Het
Man2b1	C	A	8: 85,811,084 (GRCm39)	H72N	probably damaging	Het
Mast3	A	T	8: 71,233,801 (GRCm39)	H981Q	probably damaging	Het
Meioc	T	A	11: 102,559,246 (GRCm39)	I56N	probably benign	Het
Mul1	A	C	4: 138,162,164 (GRCm39)	K32Q	probably benign	Het
Oas1c	C	T	5: 120,946,126 (GRCm39)	S124N	probably benign	Het
Omg	T	A	11: 79,393,829 (GRCm39)	K10*	probably null	Het
Or2a52	A	G	6: 43,144,750 (GRCm39)	I253V	probably benign	Het
Or4k52	A	T	2: 111,611,186 (GRCm39)	I174F	probably damaging	Het
Or6c88	A	G	10: 129,407,046 (GRCm39)	H174R	probably damaging	Het
Pcdhb14	T	A	18: 37,582,692 (GRCm39)	N599K	probably damaging	Het
Pcdhb18	C	A	18: 37,623,700 (GRCm39)	N343K	probably damaging	Het
Phf7	C	A	14: 30,971,613 (GRCm39)		probably benign	Het
Pramel15	C	T	4: 144,099,397 (GRCm39)	C456Y	probably damaging	Het
Qdpr	T	C	5: 45,604,982 (GRCm39)	N42S	probably damaging	Het
Rbm44	T	A	1: 91,090,136 (GRCm39)	D716E	probably benign	Het
Rprd2	A	C	3: 95,671,367 (GRCm39)	H1345Q	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Ryr2	G	A	13: 11,814,768 (GRCm39)	A668V	probably damaging	Het
Sash1	G	A	10: 8,603,734 (GRCm39)	P1106L	probably damaging	Het
Sec16b	T	A	1: 157,382,409 (GRCm39)	I615N	probably damaging	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Het
Slco1b2	T	C	6: 141,628,993 (GRCm39)	V600A	probably benign	Het
Sucnr1	A	G	3: 59,994,263 (GRCm39)	T264A	probably benign	Het
Tbx3	A	G	5: 119,809,983 (GRCm39)		probably benign	Het
Tigd5	T	C	15: 75,783,069 (GRCm39)	V477A	possibly damaging	Het
Tle7	T	A	8: 110,836,763 (GRCm39)	S216R	possibly damaging	Het
Ttc17	G	A	2: 94,192,764 (GRCm39)	A89V	probably damaging	Het
Twsg1	A	G	17: 66,255,657 (GRCm39)	I39T		Het
Zfp184	T	C	13: 22,143,512 (GRCm39)	F406S	probably damaging	Het
Zfp429	A	T	13: 67,538,830 (GRCm39)	C205S	probably damaging	Het
Zfp59	T	A	7: 27,554,313 (GRCm39)	D588E	probably benign	Het
Zfp64	A	T	2: 168,797,083 (GRCm39)	M1K	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
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
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'- TGGCCAGGACAAGGTATTAATTG -3'
(R):5'- AATAGGCAGGTCAGCTCCTC -3'

Sequencing Primer
(F):5'- CCAGGACAAGGTATTAATTGTGACTG -3'
(R):5'- CAGGTTATGTGTTCAGGCACCATAC -3'

Posted On

2021-08-02