Mutagenetix > Incidental Mutation

Incidental Mutation 'R5873:Rc3h1'

455292

Institutional Source

Beutler Lab

Gene Symbol

Rc3h1

Ensembl Gene

ENSMUSG00000040423

Gene Name

RING CCCH (C3H) domains 1

Synonyms

roquin, 5730557L09Rik

MMRRC Submission

044080-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.259) question?

Stock #

R5873 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

160733988-160802548 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 160787071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 822 (T822I)

Ref Sequence

ENSEMBL: ENSMUSP00000037178 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035911] [ENSMUST00000161609]

AlphaFold

Q4VGL6

Predicted Effect

probably damaging
Transcript: ENSMUST00000035911
AA Change: T822I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000037178
Gene: ENSMUSG00000040423
AA Change: T822I

Domain	Start	End	E-Value	Type
RING	14	53	5.9e-8	SMART
low complexity region	201	212	N/A	INTRINSIC
Pfam:zf-CCCH	414	440	1.4e-4	PFAM
low complexity region	551	562	N/A	INTRINSIC
low complexity region	626	636	N/A	INTRINSIC
low complexity region	728	750	N/A	INTRINSIC
low complexity region	770	784	N/A	INTRINSIC
coiled coil region	954	983	N/A	INTRINSIC
low complexity region	994	1002	N/A	INTRINSIC
low complexity region	1084	1098	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161609
AA Change: T822I

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124871
Gene: ENSMUSG00000040423
AA Change: T822I

Domain	Start	End	E-Value	Type
RING	14	53	1.25e-5	SMART
low complexity region	201	212	N/A	INTRINSIC
Pfam:zf-CCCH	414	440	5.3e-7	PFAM
low complexity region	551	562	N/A	INTRINSIC
low complexity region	626	636	N/A	INTRINSIC
low complexity region	728	750	N/A	INTRINSIC
low complexity region	770	784	N/A	INTRINSIC
coiled coil region	954	983	N/A	INTRINSIC
low complexity region	1003	1011	N/A	INTRINSIC
low complexity region	1093	1107	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing RING-type and C3H1-type zinc finger motifs. The encoded protein recognizes and binds to a constitutive decay element (CDE) in the 3' UTR of mRNAs, leading to mRNA deadenylation and degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: A single recessive mutation on this gene resulted in severe autoimmune disease with phenotype resembling human systemic lupus erythematosus. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Gene trapped(5) Chemically induced(1)

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,630,167 (GRCm39)		probably null	Het
4930505A04Rik	T	A	11: 30,376,220 (GRCm39)	K216*	probably null	Het
5330417H12Rik	T	C	7: 107,223,975 (GRCm39)		probably benign	Het
Abcc4	G	T	14: 118,763,702 (GRCm39)	D1044E	probably benign	Het
Adgre4	A	G	17: 56,159,282 (GRCm39)	T656A	probably benign	Het
Ankk1	T	C	9: 49,327,196 (GRCm39)	N661S	probably benign	Het
Asah2	A	G	19: 31,981,082 (GRCm39)		probably null	Het
Asxl3	A	G	18: 22,649,142 (GRCm39)	D377G	probably benign	Het
C3ar1	A	G	6: 122,827,381 (GRCm39)	S279P	probably benign	Het
C7	A	G	15: 5,034,717 (GRCm39)	V610A	probably damaging	Het
Cacna2d3	C	A	14: 29,442,891 (GRCm39)	A48S	probably benign	Het
Card11	T	A	5: 140,894,393 (GRCm39)	I79F	probably damaging	Het
Casc3	A	G	11: 98,712,270 (GRCm39)	Y103C	unknown	Het
Cass4	G	T	2: 172,268,688 (GRCm39)	V259L	probably benign	Het
Col14a1	A	G	15: 55,309,182 (GRCm39)		probably benign	Het
Cox10	A	G	11: 63,962,512 (GRCm39)	S110P	probably benign	Het
Cpt1b	T	C	15: 89,304,931 (GRCm39)	Y439C	probably damaging	Het
Crybb2	C	T	5: 113,213,759 (GRCm39)		probably null	Het
Cyp2b23	C	T	7: 26,374,431 (GRCm39)	R271H	probably benign	Het
Dnah17	T	C	11: 117,947,723 (GRCm39)	I3039V	probably benign	Het
Dnpep	T	C	1: 75,291,787 (GRCm39)	D242G	probably damaging	Het
Dock10	T	A	1: 80,551,855 (GRCm39)	N660I	probably damaging	Het
Esco2	T	C	14: 66,061,640 (GRCm39)	D471G	probably benign	Het
Evpl	A	T	11: 116,125,258 (GRCm39)	L97H	probably damaging	Het
Exoc3l4	A	T	12: 111,389,850 (GRCm39)	I142F	probably damaging	Het
Fry	C	A	5: 150,302,350 (GRCm39)	P519Q	probably damaging	Het
Gal3st2	T	A	1: 93,801,472 (GRCm39)	F92I	probably benign	Het
Galm	A	G	17: 80,445,532 (GRCm39)	E94G	probably benign	Het
Gfy	T	G	7: 44,827,004 (GRCm39)	H364P	probably damaging	Het
Helz2	A	G	2: 180,875,821 (GRCm39)	S1558P	possibly damaging	Het
Hmmr	T	A	11: 40,598,527 (GRCm39)	Q600L	probably damaging	Het
Hnrnph3	A	G	10: 62,855,170 (GRCm39)		probably null	Het
Igkv4-90	T	A	6: 68,784,453 (GRCm39)	N21I	probably benign	Het
Kpna1	A	G	16: 35,834,598 (GRCm39)		probably benign	Het
Krt28	A	C	11: 99,257,716 (GRCm39)	L375R	probably damaging	Het
Lrrn1	T	C	6: 107,545,936 (GRCm39)	V578A	probably damaging	Het
Lta4h	T	C	10: 93,305,052 (GRCm39)		probably null	Het
Matk	T	A	10: 81,095,963 (GRCm39)	V166E	probably benign	Het
Muc4	C	A	16: 32,570,113 (GRCm39)	T391K	possibly damaging	Het
Mybl1	T	A	1: 9,755,890 (GRCm39)	T220S	possibly damaging	Het
Nrp1	T	C	8: 129,194,858 (GRCm39)	V438A	probably damaging	Het
Or2y6	A	T	11: 52,104,180 (GRCm39)	L212Q	probably damaging	Het
Or6p1	T	A	1: 174,258,348 (GRCm39)	M118K	possibly damaging	Het
Pdia4	A	T	6: 47,785,110 (GRCm39)	W86R	probably damaging	Het
Pdzd7	T	A	19: 45,016,388 (GRCm39)	D911V	probably damaging	Het
Pkd1	A	G	17: 24,788,804 (GRCm39)	Q854R	probably benign	Het
Ppl	A	G	16: 4,923,913 (GRCm39)		probably null	Het
Ppp1r26	A	G	2: 28,341,617 (GRCm39)	T416A	probably benign	Het
Prdm15	T	C	16: 97,609,889 (GRCm39)	D585G	probably damaging	Het
Rbak	A	G	5: 143,159,466 (GRCm39)	V529A	probably benign	Het
Slc25a18	A	T	6: 120,763,242 (GRCm39)		probably null	Het
Taf2	T	C	15: 54,901,818 (GRCm39)	N792S	probably benign	Het
Tat	T	C	8: 110,718,581 (GRCm39)		probably null	Het
Tbx21	A	T	11: 97,005,474 (GRCm39)		probably null	Het
Txndc11	A	G	16: 10,893,069 (GRCm39)	L887P	probably damaging	Het
Usp10	A	G	8: 120,673,831 (GRCm39)	T399A	possibly damaging	Het
Vmn2r26	A	T	6: 124,038,633 (GRCm39)	H736L	probably benign	Het
Vstm2a	T	A	11: 16,208,044 (GRCm39)	F13I	probably damaging	Het
Zkscan5	A	G	5: 145,157,204 (GRCm39)	R496G	possibly damaging	Het
Zranb2	C	T	3: 157,242,020 (GRCm39)	R36*	probably null	Het

Other mutations in Rc3h1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
sanroque	APN	1	160,940,830 (GRCm38)	synonymous	probably benign
IGL00417:Rc3h1	APN	1	160,783,551 (GRCm39)	critical splice donor site	probably null
IGL02302:Rc3h1	APN	1	160,765,675 (GRCm39)	splice site	probably benign
IGL03053:Rc3h1	APN	1	160,783,387 (GRCm39)	missense	probably benign
IGL03275:Rc3h1	APN	1	160,787,125 (GRCm39)	critical splice donor site	probably null
curlyfry	UTSW	1	160,786,969 (GRCm39)	critical splice acceptor site	probably null
PIT4651001:Rc3h1	UTSW	1	160,791,110 (GRCm39)	missense	probably benign	0.04
R0528:Rc3h1	UTSW	1	160,795,228 (GRCm39)	missense	probably damaging	1.00
R0609:Rc3h1	UTSW	1	160,757,705 (GRCm39)	missense	probably damaging	1.00
R1620:Rc3h1	UTSW	1	160,782,543 (GRCm39)	missense	probably benign	0.02
R1661:Rc3h1	UTSW	1	160,786,993 (GRCm39)	missense	probably benign	0.29
R1665:Rc3h1	UTSW	1	160,786,993 (GRCm39)	missense	probably benign	0.29
R2027:Rc3h1	UTSW	1	160,782,507 (GRCm39)	missense	probably benign	0.03
R2145:Rc3h1	UTSW	1	160,757,827 (GRCm39)	missense	probably damaging	1.00
R2207:Rc3h1	UTSW	1	160,767,595 (GRCm39)	missense	probably damaging	0.97
R2227:Rc3h1	UTSW	1	160,791,112 (GRCm39)	missense	probably benign	0.07
R2348:Rc3h1	UTSW	1	160,778,430 (GRCm39)	missense	probably damaging	1.00
R2925:Rc3h1	UTSW	1	160,782,546 (GRCm39)	missense	probably damaging	1.00
R3977:Rc3h1	UTSW	1	160,786,969 (GRCm39)	critical splice acceptor site	probably null
R5071:Rc3h1	UTSW	1	160,787,047 (GRCm39)	missense	possibly damaging	0.76
R5177:Rc3h1	UTSW	1	160,779,222 (GRCm39)	missense	probably damaging	1.00
R5410:Rc3h1	UTSW	1	160,792,533 (GRCm39)	missense	possibly damaging	0.47
R5421:Rc3h1	UTSW	1	160,779,400 (GRCm39)	critical splice donor site	probably null
R5699:Rc3h1	UTSW	1	160,757,823 (GRCm39)	missense	probably damaging	1.00
R7672:Rc3h1	UTSW	1	160,778,454 (GRCm39)	missense	probably damaging	0.99
R8163:Rc3h1	UTSW	1	160,782,629 (GRCm39)	missense	probably damaging	1.00
R8271:Rc3h1	UTSW	1	160,768,329 (GRCm39)	intron	probably benign
R8424:Rc3h1	UTSW	1	160,793,342 (GRCm39)	missense	probably damaging	1.00
R8746:Rc3h1	UTSW	1	160,757,744 (GRCm39)	missense	probably damaging	1.00
R8805:Rc3h1	UTSW	1	160,795,222 (GRCm39)	missense	probably benign	0.10
R8960:Rc3h1	UTSW	1	160,774,164 (GRCm39)	missense	probably damaging	0.98
R8980:Rc3h1	UTSW	1	160,782,595 (GRCm39)	missense	probably benign	0.11
R9011:Rc3h1	UTSW	1	160,792,673 (GRCm39)	missense	probably damaging	1.00
R9688:Rc3h1	UTSW	1	160,770,234 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTGGTATTCTAGACATTCCACG -3'
(R):5'- GCAAAGCTCAATTAGTTGTCCC -3'

Sequencing Primer
(F):5'- AGACATTCCACGCTTTTTCTG -3'
(R):5'- GTCCTGGAACTCACTTGTAGACCAG -3'

Posted On

2017-02-10