Mutagenetix > Incidental Mutation

Incidental Mutation 'R1857:Ro60'

206194

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

039881-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R1857 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143626528-143652794 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 143646488 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 86 (T86A)

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 benign
Transcript: ENSMUST00000159879
AA Change: T86A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000125623
Gene: ENSMUSG00000018199
AA Change: T86A

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

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.3%
20x: 92.2%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	A	8: 111,766,789 (GRCm39)	I57N	probably damaging	Het
Abca15	T	C	7: 119,960,592 (GRCm39)	S685P	probably damaging	Het
Adpgk	G	T	9: 59,222,248 (GRCm39)	V392L	probably benign	Het
Akap14	C	T	X: 36,420,779 (GRCm39)	A476T	probably damaging	Het
Amdhd1	A	T	10: 93,367,416 (GRCm39)	I246N	probably damaging	Het
Amhr2	T	A	15: 102,355,212 (GRCm39)	L165*	probably null	Het
Atr	T	A	9: 95,747,150 (GRCm39)	I144N	probably damaging	Het
Ccdc33	T	C	9: 57,939,991 (GRCm39)	N750S	possibly damaging	Het
Cdh23	A	G	10: 60,159,076 (GRCm39)	I2233T	probably damaging	Het
Cfap46	C	A	7: 139,233,324 (GRCm39)	V774F	probably damaging	Het
Cfap69	G	T	5: 5,632,518 (GRCm39)	T362K	possibly damaging	Het
Cnih3	A	G	1: 181,277,638 (GRCm39)	H101R	probably damaging	Het
Crebrf	T	A	17: 26,961,937 (GRCm39)	Y345N	probably benign	Het
Cyb5r4	C	T	9: 86,923,332 (GRCm39)	S185L	probably benign	Het
Cyp2j5	T	C	4: 96,547,723 (GRCm39)	E173G	possibly damaging	Het
Cyp3a41b	T	A	5: 145,503,660 (GRCm39)	I296F	probably benign	Het
Dse	T	C	10: 34,029,225 (GRCm39)	T622A	probably benign	Het
Duxf4	A	G	10: 58,071,602 (GRCm39)	V204A	probably benign	Het
Dync1h1	T	A	12: 110,629,059 (GRCm39)	F4205L	probably damaging	Het
Eif3a	A	C	19: 60,770,635 (GRCm39)	L71V	probably damaging	Het
Eif3h	T	C	15: 51,662,674 (GRCm39)	Y124C	probably damaging	Het
Eif4g3	A	T	4: 137,903,187 (GRCm39)	Q1169L	possibly damaging	Het
Endod1	T	A	9: 14,268,405 (GRCm39)	H360L	probably benign	Het
Fbxo38	A	G	18: 62,648,489 (GRCm39)	I683T	probably damaging	Het
Frem2	T	A	3: 53,562,294 (GRCm39)	T738S	probably benign	Het
Gm1527	A	T	3: 28,957,539 (GRCm39)	T148S	probably damaging	Het
Gm4894	T	C	9: 49,189,976 (GRCm39)	S84P	unknown	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Il1f10	A	T	2: 24,182,817 (GRCm39)	D31V	possibly damaging	Het
Lrrc56	A	G	7: 140,787,421 (GRCm39)	M353V	probably benign	Het
Meiob	T	C	17: 25,042,544 (GRCm39)	V124A	probably damaging	Het
Mmp11	A	T	10: 75,764,191 (GRCm39)	D91E	probably benign	Het
Mpped2	T	C	2: 106,613,989 (GRCm39)	Y108H	probably damaging	Het
Mroh9	A	G	1: 162,866,714 (GRCm39)	V674A	probably damaging	Het
Mtor	G	T	4: 148,565,336 (GRCm39)	Q1015H	probably damaging	Het
Mylk3	G	A	8: 86,055,223 (GRCm39)	T711I	probably damaging	Het
Ndufaf6	G	T	4: 11,053,474 (GRCm39)	H277Q	probably benign	Het
Neurl4	G	T	11: 69,796,361 (GRCm39)	G435V	probably damaging	Het
Nipal2	A	G	15: 34,678,779 (GRCm39)	S21P	possibly damaging	Het
Nphp1	T	A	2: 127,612,296 (GRCm39)	D217V	probably benign	Het
Nphp3	T	C	9: 103,898,493 (GRCm39)	I432T	possibly damaging	Het
Oprd1	T	G	4: 131,840,992 (GRCm39)	D322A	probably damaging	Het
Or10ag2	T	C	2: 87,248,992 (GRCm39)	L198P	probably damaging	Het
Or2b28	A	G	13: 21,531,346 (GRCm39)	M83V	possibly damaging	Het
Or56a3b	T	G	7: 104,770,751 (GRCm39)	L29R	probably benign	Het
Pcdh10	C	A	3: 45,334,372 (GRCm39)	Q229K	possibly damaging	Het
Pdlim7	G	A	13: 55,653,858 (GRCm39)	T253M	probably damaging	Het
Pfdn1	C	A	18: 36,584,153 (GRCm39)	M60I	probably benign	Het
Pigc	T	G	1: 161,798,446 (GRCm39)	S143A	possibly damaging	Het
Pkd1l2	T	C	8: 117,767,408 (GRCm39)	D1294G	possibly damaging	Het
Ppp2r1a	T	C	17: 21,181,951 (GRCm39)	S490P	possibly damaging	Het
Ppp2r3d	T	A	9: 101,090,092 (GRCm39)	N77I	probably damaging	Het
Pramel17	T	C	4: 101,692,770 (GRCm39)	Y410C	probably damaging	Het
Pramel29	C	T	4: 143,935,091 (GRCm39)	V217I	possibly damaging	Het
Prl7a2	A	T	13: 27,843,163 (GRCm39)	C213*	probably null	Het
Prpf8	T	A	11: 75,386,249 (GRCm39)		probably null	Het
Psmd7	A	T	8: 108,311,525 (GRCm39)	N109K	probably damaging	Het
Ptprn	T	C	1: 75,224,549 (GRCm39)	K936E	possibly damaging	Het
Ror1	A	T	4: 100,298,700 (GRCm39)	Q691L	probably damaging	Het
Sars2	A	G	7: 28,449,437 (GRCm39)	M322V	probably benign	Het
Scfd2	C	A	5: 74,372,962 (GRCm39)	E638*	probably null	Het
Scgb3a2	A	G	18: 43,899,900 (GRCm39)	T63A	probably benign	Het
Slc5a4a	T	C	10: 76,002,569 (GRCm39)	S242P	probably benign	Het
Smarcd1	A	G	15: 99,607,295 (GRCm39)	K382E	probably damaging	Het
Sox5	T	A	6: 143,906,541 (GRCm39)	S305C	probably damaging	Het
Sp5	C	A	2: 70,307,213 (GRCm39)	H299Q	possibly damaging	Het
Stard13	T	C	5: 151,018,903 (GRCm39)	Y60C	probably damaging	Het
Tmprss6	A	G	15: 78,336,752 (GRCm39)	F383L	probably damaging	Het
Ttc23	T	C	7: 67,328,821 (GRCm39)		probably null	Het
Ugt2b34	T	C	5: 87,052,241 (GRCm39)	T252A	possibly damaging	Het
Vangl2	A	T	1: 171,837,464 (GRCm39)	L115Q	probably damaging	Het
Vmn1r42	A	G	6: 89,821,597 (GRCm39)	I324T	probably benign	Het
Vwa5b1	A	G	4: 138,296,413 (GRCm39)	F1205L	probably damaging	Het
Zfp951	G	C	5: 104,962,723 (GRCm39)	T281R	probably damaging	Het
Zscan30	A	G	18: 24,104,524 (GRCm39)		noncoding transcript	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
R1696:Ro60	UTSW	1	143,633,575 (GRCm39)	missense	probably damaging	0.99
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
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'- ACATGCCACACTTCATGCTC -3'
(R):5'- TTGCAGCCACTGAGTGAGAC -3'

Sequencing Primer
(F):5'- CTCCTTCAGGTCTTTCTTAAACTGG -3'
(R):5'- TGTATGGCAGGTCACCGACATG -3'

Posted On

2014-06-23