Mutagenetix > Incidental Mutation

Incidental Mutation 'R1696:Ro60'

192180

Institutional Source

Beutler Lab

Gene Symbol

Ro60

Ensembl Gene

ENSMUSG00000018199

Gene Name

Ro60, Y RNA binding protein

Synonyms

A530054J02Rik, Ssa, Trove2, SS-A/Ro, 1810007I17Rik, Ssa2

MMRRC Submission

039729-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R1696 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143626528-143652794 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 143633575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 508 (I508F)

Ref Sequence

ENSEMBL: ENSMUSP00000125623 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159879]

AlphaFold

O08848

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000018343

Predicted Effect

probably damaging
Transcript: ENSMUST00000159879
AA Change: I508F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125623
Gene: ENSMUSG00000018199
AA Change: I508F

Domain	Start	End	E-Value	Type
Pfam:TROVE	16	369	9.7e-99	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutant mice develop symptoms similar to those observed in patients with lupus, including increased photosensitivity and membranoproliferative glomerulonephritis. The production of autoantibodies is detected in both homozygous and heterozygous mutant mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	A	G	7: 27,260,022 (GRCm39)	T25A	possibly damaging	Het
Abca17	T	C	17: 24,486,632 (GRCm39)	Y1465C	possibly damaging	Het
Adgrb1	C	T	15: 74,459,956 (GRCm39)	R530W	probably damaging	Het
Ak9	A	G	10: 41,203,585 (GRCm39)	T159A	possibly damaging	Het
Akap13	G	A	7: 75,259,340 (GRCm39)	G655S	possibly damaging	Het
Amer2	T	A	14: 60,617,123 (GRCm39)	D439E	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Arfgef2	T	A	2: 166,703,558 (GRCm39)	M870K	probably damaging	Het
Arhgef33	T	C	17: 80,656,935 (GRCm39)	F150S	probably damaging	Het
Arid2	A	T	15: 96,268,064 (GRCm39)	T726S	probably benign	Het
Atf7ip2	G	A	16: 10,052,195 (GRCm39)	V225I	probably damaging	Het
Atp12a	A	T	14: 56,603,545 (GRCm39)	E50V	probably damaging	Het
Bdkrb1	A	G	12: 105,570,761 (GRCm39)	N109S	probably benign	Het
Cald1	A	G	6: 34,722,646 (GRCm39)	E104G	probably damaging	Het
Capn15	A	G	17: 26,183,878 (GRCm39)	V267A	probably benign	Het
Ccng2	A	T	5: 93,421,241 (GRCm39)	K250N	possibly damaging	Het
Ccr10	T	A	11: 101,065,210 (GRCm39)	N107Y	probably benign	Het
Cntn2	T	C	1: 132,449,017 (GRCm39)	N664S	probably damaging	Het
Cyp24a1	T	G	2: 170,327,963 (GRCm39)	E426D	probably benign	Het
Cyp26a1	A	G	19: 37,689,626 (GRCm39)	S441G	probably benign	Het
Cyp4f14	T	A	17: 33,128,145 (GRCm39)	K290M	possibly damaging	Het
Dcp2	T	A	18: 44,533,391 (GRCm39)	L114Q	probably damaging	Het
Dhrs7	A	G	12: 72,699,894 (GRCm39)	F246S	possibly damaging	Het
Dlg1	T	C	16: 31,600,616 (GRCm39)	V167A	probably damaging	Het
Dnmt3b	A	T	2: 153,518,630 (GRCm39)	K598*	probably null	Het
Dph7	T	C	2: 24,859,692 (GRCm39)		probably null	Het
Ehbp1	T	C	11: 22,003,441 (GRCm39)	M1103V	probably damaging	Het
Ell2	T	C	13: 75,917,677 (GRCm39)	S536P	probably damaging	Het
Ero1a	A	T	14: 45,537,392 (GRCm39)	V178E	probably damaging	Het
Faf2	T	A	13: 54,786,067 (GRCm39)	*50R	probably null	Het
Fbxl14	A	T	6: 119,457,107 (GRCm39)	N96I	probably damaging	Het
Fcrl2	T	C	3: 87,166,825 (GRCm39)	Y56C	possibly damaging	Het
Foxc1	T	A	13: 31,992,782 (GRCm39)	M531K	unknown	Het
Foxp1	A	C	6: 98,922,663 (GRCm39)	S391A	probably benign	Het
Frem2	A	T	3: 53,563,463 (GRCm39)	L348*	probably null	Het
Fsd1	T	A	17: 56,295,257 (GRCm39)		probably null	Het
Gab2	A	G	7: 96,872,840 (GRCm39)	E81G	probably damaging	Het
Gcat	G	A	15: 78,919,995 (GRCm39)	V196M	probably damaging	Het
Gfy	T	C	7: 44,827,470 (GRCm39)	T209A	possibly damaging	Het
Ggt7	T	C	2: 155,336,899 (GRCm39)	N531S	possibly damaging	Het
Gnai3	A	G	3: 108,016,775 (GRCm39)	I343T	probably damaging	Het
H2-DMa	A	T	17: 34,357,387 (GRCm39)	Q220L	probably benign	Het
Heatr1	A	G	13: 12,438,602 (GRCm39)	I1346V	possibly damaging	Het
Igfbp1	T	A	11: 7,147,978 (GRCm39)	V7D	probably benign	Het
Igfbp1	T	C	11: 7,151,922 (GRCm39)	W242R	probably damaging	Het
Kbtbd2	T	G	6: 56,756,326 (GRCm39)	K470T	probably benign	Het
Klb	G	C	5: 65,506,089 (GRCm39)	R112P	possibly damaging	Het
Klhl25	G	T	7: 75,516,591 (GRCm39)	G499V	probably damaging	Het
Krt7	A	T	15: 101,321,307 (GRCm39)	T375S	probably benign	Het
Krt73	G	A	15: 101,708,344 (GRCm39)	L238F	probably damaging	Het
Lama5	G	T	2: 179,844,279 (GRCm39)	H331Q	probably damaging	Het
Leng8	T	G	7: 4,148,135 (GRCm39)	F663V	probably damaging	Het
Lrp12	G	T	15: 39,741,757 (GRCm39)	H338Q	probably damaging	Het
Lrp6	T	A	6: 134,445,686 (GRCm39)	R1042S	probably damaging	Het
Map6	T	A	7: 98,966,664 (GRCm39)		probably null	Het
Mdn1	T	C	4: 32,700,417 (GRCm39)	F1459L	possibly damaging	Het
Mmp1b	T	C	9: 7,386,699 (GRCm39)	T142A	probably damaging	Het
Mmp23	T	A	4: 155,735,166 (GRCm39)	*392C	probably null	Het
Nlrp4a	C	T	7: 26,149,959 (GRCm39)	S522F	probably damaging	Het
Nup93	T	G	8: 95,023,183 (GRCm39)	F254V	probably benign	Het
Oas1h	G	T	5: 121,000,885 (GRCm39)		probably null	Het
Ocstamp	A	G	2: 165,238,094 (GRCm39)	L390P	probably damaging	Het
Olfm1	C	A	2: 28,098,128 (GRCm39)	Y20*	probably null	Het
Or10ac1	C	T	6: 42,515,537 (GRCm39)	V140M	probably benign	Het
Or13a26	A	T	7: 140,284,409 (GRCm39)	K82*	probably null	Het
Or52ae7	T	C	7: 103,119,384 (GRCm39)	V46A	probably benign	Het
Or5as1	A	G	2: 86,980,724 (GRCm39)	F94L	probably benign	Het
Or7g33	A	G	9: 19,449,190 (GRCm39)	F12S	probably damaging	Het
Pgghg	T	C	7: 140,525,224 (GRCm39)	V410A	possibly damaging	Het
Polr2b	T	A	5: 77,490,495 (GRCm39)	D878E	probably benign	Het
Pspc1	T	C	14: 57,001,700 (GRCm39)	T225A	probably benign	Het
Rad21l	A	T	2: 151,510,447 (GRCm39)	Y3N	probably damaging	Het
Rbl2	A	G	8: 91,812,352 (GRCm39)	N280S	probably benign	Het
Rdm1	C	A	11: 101,521,694 (GRCm39)	Q150K	probably benign	Het
Rrp12	A	T	19: 41,862,188 (GRCm39)	F932I	probably damaging	Het
Ryr2	A	T	13: 11,746,543 (GRCm39)	M2003K	probably benign	Het
Scfd2	T	C	5: 74,691,539 (GRCm39)	T248A	probably benign	Het
Slc22a16	G	A	10: 40,460,923 (GRCm39)	A242T	possibly damaging	Het
Slit3	C	A	11: 35,566,750 (GRCm39)	N1007K	probably damaging	Het
Sntg2	C	A	12: 30,317,062 (GRCm39)	G187C	probably damaging	Het
Spag5	T	C	11: 78,212,152 (GRCm39)	V1060A	probably damaging	Het
Spg7	G	A	8: 123,816,964 (GRCm39)	V552I	probably benign	Het
Spns2	T	A	11: 72,347,173 (GRCm39)	T434S	probably benign	Het
Srpk2	C	T	5: 23,753,492 (GRCm39)	W87*	probably null	Het
St3gal3	T	C	4: 117,797,589 (GRCm39)	I268V	possibly damaging	Het
Stat6	T	C	10: 127,488,918 (GRCm39)	C356R	probably damaging	Het
Stx8	A	G	11: 67,902,248 (GRCm39)	Q144R	probably damaging	Het
Tcn2	C	A	11: 3,872,169 (GRCm39)	L319F	probably damaging	Het
Tex14	T	C	11: 87,402,371 (GRCm39)	I486T	possibly damaging	Het
Thtpa	T	C	14: 55,333,242 (GRCm39)	V109A	probably benign	Het
Tmem127	C	A	2: 127,090,627 (GRCm39)	L48I	probably damaging	Het
Tnfaip8	A	T	18: 50,223,290 (GRCm39)	K9*	probably null	Het
Tnfrsf1b	T	A	4: 144,954,044 (GRCm39)	T102S	probably benign	Het
Tor1aip1	A	T	1: 155,893,262 (GRCm39)	M110K	possibly damaging	Het
Trim10	A	T	17: 37,188,073 (GRCm39)	K430*	probably null	Het
Trpv6	A	G	6: 41,598,702 (GRCm39)	V641A	possibly damaging	Het
Ttf1	T	G	2: 28,960,014 (GRCm39)	Y541D	probably damaging	Het
Ttn	A	G	2: 76,594,750 (GRCm39)	V20432A	probably damaging	Het
Vac14	A	T	8: 111,359,079 (GRCm39)		probably null	Het
Vipr2	G	T	12: 116,102,777 (GRCm39)	A296S	probably benign	Het
Vmn1r1	T	C	1: 181,985,624 (GRCm39)	R14G	probably benign	Het
Vmn1r178	T	A	7: 23,593,625 (GRCm39)	N151K	probably damaging	Het
Vmn1r58	T	A	7: 5,413,727 (GRCm39)	I168F	possibly damaging	Het
Vmn1r77	C	T	7: 11,775,547 (GRCm39)	Q40*	probably null	Het
Vmn2r76	T	C	7: 85,880,464 (GRCm39)	N74S	possibly damaging	Het
Zc2hc1c	T	A	12: 85,337,555 (GRCm39)	M404K	possibly damaging	Het

Other mutations in Ro60

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01563:Ro60	APN	1	143,637,120 (GRCm39)	missense	probably benign	0.29
IGL01578:Ro60	APN	1	143,637,038 (GRCm39)	missense	probably damaging	0.99
IGL02006:Ro60	APN	1	143,636,084 (GRCm39)	splice site	probably benign
IGL02155:Ro60	APN	1	143,637,007 (GRCm39)	critical splice donor site	probably null
IGL02219:Ro60	APN	1	143,637,013 (GRCm39)	missense	possibly damaging	0.94
IGL02637:Ro60	APN	1	143,646,526 (GRCm39)	missense	probably damaging	1.00
IGL03013:Ro60	APN	1	143,646,446 (GRCm39)	missense	probably damaging	1.00
IGL03075:Ro60	APN	1	143,646,509 (GRCm39)	missense	probably benign
R0415:Ro60	UTSW	1	143,635,813 (GRCm39)	missense	probably benign	0.00
R0443:Ro60	UTSW	1	143,641,661 (GRCm39)	splice site	probably benign
R0479:Ro60	UTSW	1	143,633,489 (GRCm39)	missense	possibly damaging	0.72
R1728:Ro60	UTSW	1	143,635,772 (GRCm39)	missense	probably benign
R1728:Ro60	UTSW	1	143,635,752 (GRCm39)	missense	probably benign
R1729:Ro60	UTSW	1	143,635,772 (GRCm39)	missense	probably benign
R1729:Ro60	UTSW	1	143,635,752 (GRCm39)	missense	probably benign
R1730:Ro60	UTSW	1	143,635,772 (GRCm39)	missense	probably benign
R1730:Ro60	UTSW	1	143,635,752 (GRCm39)	missense	probably benign
R1739:Ro60	UTSW	1	143,635,772 (GRCm39)	missense	probably benign
R1739:Ro60	UTSW	1	143,635,752 (GRCm39)	missense	probably benign
R1762:Ro60	UTSW	1	143,635,772 (GRCm39)	missense	probably benign
R1762:Ro60	UTSW	1	143,635,752 (GRCm39)	missense	probably benign
R1783:Ro60	UTSW	1	143,635,772 (GRCm39)	missense	probably benign
R1783:Ro60	UTSW	1	143,635,752 (GRCm39)	missense	probably benign
R1784:Ro60	UTSW	1	143,635,772 (GRCm39)	missense	probably benign
R1784:Ro60	UTSW	1	143,635,752 (GRCm39)	missense	probably benign
R1785:Ro60	UTSW	1	143,635,752 (GRCm39)	missense	probably benign
R1785:Ro60	UTSW	1	143,635,772 (GRCm39)	missense	probably benign
R1857:Ro60	UTSW	1	143,646,488 (GRCm39)	missense	probably benign	0.00
R2049:Ro60	UTSW	1	143,635,772 (GRCm39)	missense	probably benign
R2130:Ro60	UTSW	1	143,635,772 (GRCm39)	missense	probably benign
R2131:Ro60	UTSW	1	143,635,772 (GRCm39)	missense	probably benign
R2133:Ro60	UTSW	1	143,635,772 (GRCm39)	missense	probably benign
R2141:Ro60	UTSW	1	143,635,772 (GRCm39)	missense	probably benign
R2142:Ro60	UTSW	1	143,635,772 (GRCm39)	missense	probably benign
R2372:Ro60	UTSW	1	143,646,620 (GRCm39)	nonsense	probably null
R2929:Ro60	UTSW	1	143,633,616 (GRCm39)	missense	possibly damaging	0.92
R4191:Ro60	UTSW	1	143,646,524 (GRCm39)	missense	probably benign	0.00
R5520:Ro60	UTSW	1	143,646,509 (GRCm39)	missense	probably benign
R5821:Ro60	UTSW	1	143,642,503 (GRCm39)	missense	probably benign	0.09
R7432:Ro60	UTSW	1	143,641,548 (GRCm39)	missense	probably benign	0.43
R7658:Ro60	UTSW	1	143,646,611 (GRCm39)	missense	probably damaging	1.00
R8833:Ro60	UTSW	1	143,641,517 (GRCm39)	nonsense	probably null
R8924:Ro60	UTSW	1	143,641,170 (GRCm39)	critical splice donor site	probably null
R9079:Ro60	UTSW	1	143,641,519 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGCTGAGTACATGCACCTTTGGGC -3'
(R):5'- AATCCAGCATTTTGGTAGGAGGAACC -3'

Sequencing Primer
(F):5'- CTCACTACTGTGTCTAGCAGGG -3'
(R):5'- GGAGGAACCATGGTTGTTCTAGT -3'

Posted On

2014-05-14