Mutagenetix > Incidental Mutation

Incidental Mutation 'R5177:Rc3h1'

399539

Institutional Source

Beutler Lab

Gene Symbol

Rc3h1

Ensembl Gene

ENSMUSG00000040423

Gene Name

RING CCCH (C3H) domains 1

Synonyms

roquin, 5730557L09Rik

MMRRC Submission

042757-MU

Accession Numbers

Essential gene?

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

Stock #

R5177 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

160733988-160802548 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 160779222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 552 (V552L)

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: V552L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037178
Gene: ENSMUSG00000040423
AA Change: V552L

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

probably damaging
Transcript: ENSMUST00000161609
AA Change: V552L

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124871
Gene: ENSMUSG00000040423
AA Change: V552L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161708

Meta Mutation Damage Score

0.0924

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.5%

Validation Efficiency

97% (71/73)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,115,639 (GRCm39)	R575Q	probably damaging	Het
Arhgap22	T	G	14: 33,088,650 (GRCm39)	V377G	probably benign	Het
Asic4	T	C	1: 75,427,483 (GRCm39)	I3T	probably damaging	Het
Atp2b4	T	C	1: 133,656,506 (GRCm39)	T715A	probably benign	Het
Bltp3a	T	C	17: 28,103,992 (GRCm39)	L464P	possibly damaging	Het
Ccdc180	A	T	4: 45,917,508 (GRCm39)	H283L	probably damaging	Het
Cfap91	A	G	16: 38,152,683 (GRCm39)	S176P	probably benign	Het
Cfb	A	G	17: 35,078,002 (GRCm39)	V976A	probably damaging	Het
Cltc	T	C	11: 86,595,989 (GRCm39)	T1250A	probably damaging	Het
Cylc2	T	C	4: 51,228,587 (GRCm39)		probably benign	Het
Dcbld1	T	A	10: 52,180,730 (GRCm39)	D131E	probably damaging	Het
Dmxl1	T	C	18: 50,026,651 (GRCm39)	S1920P	probably damaging	Het
Dnajc13	G	A	9: 104,108,185 (GRCm39)	H197Y	probably benign	Het
Dpy19l1	C	T	9: 24,349,924 (GRCm39)		probably null	Het
Ears2	A	G	7: 121,643,683 (GRCm39)		probably benign	Het
Epgn	A	C	5: 91,176,136 (GRCm39)		probably benign	Het
Ern1	T	C	11: 106,302,601 (GRCm39)	T418A	probably benign	Het
F12	G	A	13: 55,567,981 (GRCm39)	P476S	probably benign	Het
Gal3st2c	C	T	1: 93,936,930 (GRCm39)	Q292*	probably null	Het
Galnt7	C	A	8: 58,037,061 (GRCm39)	Q109H	possibly damaging	Het
Gimap1	G	T	6: 48,720,032 (GRCm39)	G215W	probably damaging	Het
Gm28042	T	A	2: 119,872,082 (GRCm39)		probably null	Het
Gm5414	A	G	15: 101,534,252 (GRCm39)	I284T	possibly damaging	Het
Hddc3	A	G	7: 79,992,914 (GRCm39)	E10G	probably damaging	Het
Hmgxb3	T	C	18: 61,305,266 (GRCm39)	K31E	probably damaging	Het
Hspg2	A	C	4: 137,246,083 (GRCm39)	Y989S	probably damaging	Het
Kif12	G	A	4: 63,086,141 (GRCm39)	T402M	probably benign	Het
Klhdc4	A	T	8: 122,540,529 (GRCm39)	L115*	probably null	Het
Lama2	C	T	10: 27,066,699 (GRCm39)	V1061M	possibly damaging	Het
Llgl1	C	T	11: 60,602,833 (GRCm39)	T836I	possibly damaging	Het
Map4k4	A	G	1: 40,025,922 (GRCm39)	D304G	probably damaging	Het
Matn2	A	G	15: 34,433,660 (GRCm39)	Q915R	possibly damaging	Het
Myo18a	A	G	11: 77,755,668 (GRCm39)		probably benign	Het
Myorg	C	A	4: 41,498,407 (GRCm39)	E408*	probably null	Het
Nbn	A	T	4: 15,965,132 (GRCm39)		probably null	Het
Nek8	G	A	11: 78,061,297 (GRCm39)	Q383*	probably null	Het
Nme7	T	G	1: 164,208,245 (GRCm39)	Y304*	probably null	Het
Nol8	A	T	13: 49,814,588 (GRCm39)	H214L	probably benign	Het
Nostrin	A	T	2: 69,006,098 (GRCm39)	I261F	possibly damaging	Het
Oprk1	T	G	1: 5,672,897 (GRCm39)	C345G	probably damaging	Het
Or13a18	A	G	7: 140,190,102 (GRCm39)	T8A	probably benign	Het
Or52j3	A	T	7: 102,836,710 (GRCm39)	I301L	probably benign	Het
Polrmt	T	C	10: 79,573,310 (GRCm39)	S998G	probably benign	Het
Ppp1r12c	T	A	7: 4,487,495 (GRCm39)	R393*	probably null	Het
Prpf3	T	A	3: 95,757,036 (GRCm39)		probably benign	Het
Rabl6	T	C	2: 25,475,385 (GRCm39)	M563V	probably benign	Het
Rasa2	C	A	9: 96,426,844 (GRCm39)	E775*	probably null	Het
Rhot1	A	T	11: 80,137,592 (GRCm39)	N365Y	possibly damaging	Het
Rimbp3	G	A	16: 17,027,781 (GRCm39)	V402M	possibly damaging	Het
Rusc2	A	T	4: 43,421,805 (GRCm39)		probably null	Het
Slc25a11	T	C	11: 70,536,643 (GRCm39)	E141G	probably damaging	Het
Slc34a1	A	T	13: 55,548,975 (GRCm39)	I142F	probably damaging	Het
Socs6	A	C	18: 88,887,504 (GRCm39)	Y470*	probably null	Het
Sox12	A	T	2: 152,239,098 (GRCm39)	L174Q	unknown	Het
Srl	A	G	16: 4,314,267 (GRCm39)		probably null	Het
Tacc1	A	T	8: 25,691,237 (GRCm39)	V22E	probably damaging	Het
Thsd7a	A	T	6: 12,379,582 (GRCm39)	C947*	probably null	Het
Tlr12	A	C	4: 128,512,169 (GRCm39)	V27G	probably damaging	Het
Tmprss4	C	A	9: 45,085,260 (GRCm39)	V398L	probably benign	Het
Trip6	T	C	5: 137,310,434 (GRCm39)	D270G	probably damaging	Het
Uba5	T	G	9: 103,926,497 (GRCm39)	N355T	probably benign	Het
Ubr5	A	G	15: 38,006,761 (GRCm39)	Y1171H	probably benign	Het
Vmn2r57	A	G	7: 41,049,664 (GRCm39)	I695T	probably benign	Het
Vmn2r68	T	A	7: 84,871,199 (GRCm39)	I695L	probably damaging	Het
Vmn2r79	T	A	7: 86,651,177 (GRCm39)	M192K	probably damaging	Het
Vps16	G	T	2: 130,285,288 (GRCm39)	E782*	probably null	Het
Zfp783	A	G	6: 47,923,737 (GRCm39)		noncoding transcript	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
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
R5873:Rc3h1	UTSW	1	160,787,071 (GRCm39)	missense	probably damaging	0.99
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'- CTGGCCCAGAAAATAAAATGTTTGC -3'
(R):5'- AGGTGCTGTCTCAAAAGCTG -3'

Sequencing Primer
(F):5'- CCCAGAAAATAAAATGTTTGCCTTTG -3'
(R):5'- TCTCAAAAGCTGGGGCACTTC -3'

Posted On

2016-07-06