Mutagenetix > Incidental Mutation

Incidental Mutation 'R5421:Rc3h1'

426538

Institutional Source

Beutler Lab

Gene Symbol

Rc3h1

Ensembl Gene

ENSMUSG00000040423

Gene Name

RING CCCH (C3H) domains 1

Synonyms

roquin, 5730557L09Rik

Accession Numbers

Essential gene?

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

Stock #

R5421 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

160733988-160802548 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 160779400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124871 (fasta)

Gene Model

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

AlphaFold

Q4VGL6

PDB Structure

X-ray structure of the ROQ domain from murine Roquin-1 [X-RAY DIFFRACTION]
X-ray structure of the ROQ domain from murine Roquin-1 in complex with a 23-mer Tnf-CDE RNA [X-RAY DIFFRACTION]
Crystal structure of N-terminus of Roquin [X-RAY DIFFRACTION]

Predicted Effect

probably null
Transcript: ENSMUST00000035911

SMART Domains

Protein: ENSMUSP00000037178
Gene: ENSMUSG00000040423

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 null
Transcript: ENSMUST00000161609

SMART Domains

Protein: ENSMUSP00000124871
Gene: ENSMUSG00000040423

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	A	T	15: 74,421,876 (GRCm39)	Q882L	probably damaging	Het
Afdn	T	C	17: 14,052,668 (GRCm39)	V525A	probably benign	Het
AI987944	T	C	7: 41,024,200 (GRCm39)	T263A	probably benign	Het
Aldh1l2	T	C	10: 83,363,271 (GRCm39)	S31G	probably damaging	Het
Asxl1	T	C	2: 153,241,504 (GRCm39)	S685P	probably benign	Het
Blnk	C	A	19: 40,956,967 (GRCm39)	V47F	probably damaging	Het
Bmp4	T	A	14: 46,623,355 (GRCm39)	M64L	probably damaging	Het
Bmpr2	T	A	1: 59,909,577 (GRCm39)	V1017E	possibly damaging	Het
C1ra	C	T	6: 124,499,749 (GRCm39)	P645L	probably benign	Het
Cadm2	A	T	16: 66,568,513 (GRCm39)	C248*	probably null	Het
Cdk6	T	C	5: 3,523,120 (GRCm39)	V180A	probably damaging	Het
Colec12	A	T	18: 9,858,580 (GRCm39)	R454S	probably damaging	Het
Dennd3	T	C	15: 73,438,964 (GRCm39)	S1111P	probably benign	Het
Dmxl1	T	C	18: 49,996,186 (GRCm39)		probably null	Het
Dnah2	G	A	11: 69,326,462 (GRCm39)	T3613I	probably damaging	Het
Elp6	A	G	9: 110,143,132 (GRCm39)	Q115R	probably benign	Het
Enpp1	A	G	10: 24,545,655 (GRCm39)	Y262H	probably damaging	Het
Far2	A	G	6: 148,047,690 (GRCm39)		probably null	Het
Flnb	C	T	14: 7,926,494 (GRCm38)	T1846I	probably damaging	Het
Folr2	C	T	7: 101,489,851 (GRCm39)	R139H	probably benign	Het
Fxn	A	T	19: 24,254,649 (GRCm39)		probably null	Het
Galnt13	A	C	2: 54,747,908 (GRCm39)	N263T	probably damaging	Het
Gje1	G	A	10: 14,592,428 (GRCm39)	S118L	probably damaging	Het
Htr5a	G	T	5: 28,055,985 (GRCm39)	W325C	possibly damaging	Het
Itga4	T	A	2: 79,146,385 (GRCm39)	Y772*	probably null	Het
Kif12	T	C	4: 63,089,665 (GRCm39)	S59G	probably benign	Het
Kifc3	C	T	8: 95,836,473 (GRCm39)	R96Q	probably damaging	Het
Klrd1	T	C	6: 129,575,406 (GRCm39)	Y191H	probably damaging	Het
Ndst3	A	T	3: 123,428,008 (GRCm39)		probably null	Het
Nek1	A	C	8: 61,459,711 (GRCm39)	R6S	possibly damaging	Het
Or4b13	G	A	2: 90,083,089 (GRCm39)	T81I	probably benign	Het
Or5p68	G	C	7: 107,946,182 (GRCm39)	A2G	probably benign	Het
Or6k8-ps1	C	T	1: 173,979,861 (GRCm39)	R260*	probably null	Het
Palld	C	T	8: 61,969,584 (GRCm39)	E1005K	probably damaging	Het
Ppp2r1a	T	A	17: 21,176,968 (GRCm39)	Y169N	probably benign	Het
Rad50	T	C	11: 53,565,773 (GRCm39)	D960G	probably benign	Het
Rad51ap2	A	T	12: 11,509,368 (GRCm39)	K915*	probably null	Het
Rasal2	T	C	1: 157,126,711 (GRCm39)	K109R	probably benign	Het
Rnf6	C	T	5: 146,147,339 (GRCm39)	V560I	probably benign	Het
Samd8	A	G	14: 21,842,563 (GRCm39)	D295G	probably damaging	Het
Scart1	T	C	7: 139,803,813 (GRCm39)	L337P	probably damaging	Het
Serpinb2	T	C	1: 107,451,581 (GRCm39)	Y245H	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc28a3	A	T	13: 58,722,079 (GRCm39)	F268L	possibly damaging	Het
Slc7a14	T	C	3: 31,278,346 (GRCm39)	T420A	probably damaging	Het
Speer4f2	A	T	5: 17,579,356 (GRCm39)	T52S	possibly damaging	Het
Spta1	A	G	1: 174,043,095 (GRCm39)	N1414D	probably damaging	Het
Sptbn5	A	G	2: 119,911,261 (GRCm39)		noncoding transcript	Het
Syt9	T	C	7: 107,024,563 (GRCm39)	V152A	probably benign	Het
Thoc2l	A	T	5: 104,666,261 (GRCm39)	N261I	probably benign	Het
Tln1	G	A	4: 43,533,609 (GRCm39)	A2315V	possibly damaging	Het
Tox	C	A	4: 6,842,409 (GRCm39)	M40I	possibly damaging	Het
Ucp1	G	A	8: 84,017,320 (GRCm39)	A37T	probably benign	Het
Vapa	A	G	17: 65,902,031 (GRCm39)	V33A	possibly damaging	Het
Vmn2r110	A	G	17: 20,803,882 (GRCm39)	L231S	probably damaging	Het
Vmn2r15	C	T	5: 109,434,401 (GRCm39)	A768T	probably damaging	Het
Vmn2r86	T	C	10: 130,282,805 (GRCm39)	T604A	probably benign	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Wnk1	A	G	6: 119,929,779 (GRCm39)	V1246A	probably damaging	Het
Wwc1	C	T	11: 35,801,123 (GRCm39)	E105K	possibly damaging	Het
Wwc1	T	G	11: 35,766,890 (GRCm39)	D455A	possibly damaging	Het
Zfp426	G	A	9: 20,382,015 (GRCm39)	A309V	probably damaging	Het
Zfp626	T	A	7: 27,517,335 (GRCm39)	N105K	probably damaging	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
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'- ACATCCTGTACCTCCAAGGG -3'
(R):5'- GCTCTAAAGACTTGTATTCAGCAC -3'

Sequencing Primer
(F):5'- GGGACCAACAGATCTGCCTC -3'
(R):5'- AAAGGAAGCCCCTGTGTA -3'

Posted On

2016-09-01