Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4651001:Rc3h1'

556640

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: 0.298) question?

Stock #

PIT4651001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

160733988-160802548 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 160791110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 931 (N931K)

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

possibly damaging
Transcript: ENSMUST00000035911
AA Change: N931K

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000037178
Gene: ENSMUSG00000040423
AA Change: N931K

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 benign
Transcript: ENSMUST00000161609
AA Change: N931K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000124871
Gene: ENSMUSG00000040423
AA Change: N931K

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: 93.1%
3x: 90.7%
10x: 84.4%
20x: 70.4%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,408,014 (GRCm39)	I428L	probably benign	Het
Aass	T	C	6: 23,118,750 (GRCm39)	I131V	probably benign	Het
Alcam	T	A	16: 52,115,550 (GRCm39)	K189N	probably benign	Het
Ankrd50	C	A	3: 38,509,959 (GRCm39)	E803*	probably null	Het
Ankrd53	A	G	6: 83,742,715 (GRCm39)	D236G	probably damaging	Het
Bard1	A	G	1: 71,114,087 (GRCm39)	V298A	probably benign	Het
Cacna1d	C	T	14: 29,900,602 (GRCm39)	G361D	probably damaging	Het
Camkk1	A	G	11: 72,916,647 (GRCm39)	S82G	probably benign	Het
Ccr4	A	T	9: 114,321,261 (GRCm39)	V268E	probably benign	Het
Cdh6	G	A	15: 13,044,805 (GRCm39)	S439L	possibly damaging	Het
Ces1e	G	T	8: 93,941,711 (GRCm39)	A254E	probably benign	Het
Cfap46	T	C	7: 139,225,467 (GRCm39)	T1078A		Het
Cyp46a1	A	G	12: 108,319,367 (GRCm39)	D288G	probably benign	Het
Dnah6	T	C	6: 73,037,243 (GRCm39)	N3333S	probably benign	Het
Dzip3	A	G	16: 48,765,241 (GRCm39)	V491A	probably benign	Het
Egr1	G	T	18: 34,996,240 (GRCm39)	E341*	probably null	Het
Enpp1	G	A	10: 24,529,848 (GRCm39)	P597S	probably benign	Het
Ercc3	A	T	18: 32,373,365 (GRCm39)		probably benign	Het
Fbn1	T	C	2: 125,205,909 (GRCm39)		probably null	Het
Fbxw11	T	C	11: 32,661,999 (GRCm39)		probably null	Het
Fhip1a	C	T	3: 85,590,948 (GRCm39)	A389T	probably damaging	Het
Gbf1	A	G	19: 46,151,982 (GRCm39)	N5S	probably benign	Het
Gbp4	T	A	5: 105,266,289 (GRCm39)	H584L	probably benign	Het
Gcgr	G	T	11: 120,428,968 (GRCm39)	C402F	probably damaging	Het
Grm7	T	A	6: 110,623,050 (GRCm39)	N74K	probably benign	Het
H1f9	A	G	11: 94,859,142 (GRCm39)	S146G	probably benign	Het
Hoxa10	T	G	6: 52,211,877 (GRCm39)	N13T	possibly damaging	Het
Ice1	A	T	13: 70,772,040 (GRCm39)		probably null	Het
Il22	C	A	10: 118,041,495 (GRCm39)	N69K	probably damaging	Het
Il9r	A	T	11: 32,141,798 (GRCm39)	H319Q	probably benign	Het
Itgax	A	G	7: 127,748,282 (GRCm39)	T1104A	probably benign	Het
Jag1	C	T	2: 136,943,617 (GRCm39)	G193D	probably damaging	Het
Krt13	T	A	11: 100,010,862 (GRCm39)	D164V	probably damaging	Het
Lepr	T	C	4: 101,649,194 (GRCm39)	M865T	probably damaging	Het
Lmf2	G	A	15: 89,236,272 (GRCm39)	H576Y	possibly damaging	Het
Lrrc8c	C	T	5: 105,756,189 (GRCm39)	H655Y	probably benign	Het
Mapk6	A	T	9: 75,304,869 (GRCm39)	S183T	possibly damaging	Het
Mcrs1	A	T	15: 99,144,832 (GRCm39)	Y261N	probably damaging	Het
Mon1b	G	A	8: 114,365,254 (GRCm39)	G194D	probably benign	Het
Myo18b	C	T	5: 112,982,301 (GRCm39)	R1144Q	probably benign	Het
Myo9b	T	A	8: 71,795,456 (GRCm39)	H808Q	possibly damaging	Het
Ngdn	T	C	14: 55,253,657 (GRCm39)	I15T	probably benign	Het
Nhsl1	T	G	10: 18,284,183 (GRCm39)	S41R	probably damaging	Het
Numa1	A	T	7: 101,663,141 (GRCm39)	K2089M	probably damaging	Het
Obi1	T	A	14: 104,743,692 (GRCm39)	D129V	probably damaging	Het
Obscn	A	G	11: 58,932,507 (GRCm39)	L4900P	probably damaging	Het
Olfm4	T	A	14: 80,258,925 (GRCm39)	L391Q	probably benign	Het
Or10g9b	A	T	9: 39,917,526 (GRCm39)	C240S	probably damaging	Het
Or2ag1	A	G	7: 106,472,730 (GRCm39)	C241R	probably damaging	Het
Or5b106	T	A	19: 13,123,991 (GRCm39)	I11F	probably benign	Het
Or5b111	A	G	19: 13,291,556 (GRCm39)	I31T	probably benign	Het
Or5m9	T	C	2: 85,876,862 (GRCm39)	L12P	probably damaging	Het
Parn	T	A	16: 13,449,431 (GRCm39)	N302Y	probably benign	Het
Pi4k2b	T	G	5: 52,905,812 (GRCm39)	S118A	possibly damaging	Het
Piwil4	C	T	9: 14,620,195 (GRCm39)	V704I	possibly damaging	Het
Pm20d2	G	A	4: 33,181,715 (GRCm39)	T296M	probably damaging	Het
Pmpcb	C	T	5: 21,951,048 (GRCm39)	A270V	probably benign	Het
Pnpt1	T	C	11: 29,106,945 (GRCm39)		probably null	Het
Prkn	T	A	17: 11,286,130 (GRCm39)	L41Q	probably damaging	Het
Rlf	A	G	4: 121,007,510 (GRCm39)	V600A	probably damaging	Het
Rpl27rt	A	T	18: 34,870,892 (GRCm39)	Q142L	unknown	Het
Sall1	T	G	8: 89,757,731 (GRCm39)	Q791P	probably damaging	Het
Sema3c	T	A	5: 17,899,731 (GRCm39)	Y408N	probably benign	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Tmem181a	A	T	17: 6,351,170 (GRCm39)	M319L	probably benign	Het
Trim24	T	C	6: 37,877,667 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,719,278 (GRCm39)	T7234S	unknown	Het
Unc13c	T	A	9: 73,391,021 (GRCm39)	M2076L	possibly damaging	Het
Uroc1	C	T	6: 90,340,095 (GRCm39)	R667*	probably null	Het
Uvrag	A	G	7: 98,555,727 (GRCm39)	F456L	probably benign	Het
Vmn1r215	T	C	13: 23,260,530 (GRCm39)	V190A	probably damaging	Het
Vmn2r50	T	A	7: 9,771,659 (GRCm39)	T681S	probably benign	Het
Vmn2r65	T	A	7: 84,595,461 (GRCm39)	T408S	probably benign	Het
Vps33b	A	G	7: 79,939,755 (GRCm39)	D502G	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
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
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'- AGACAGCTTTCTGCAGAGACAG -3'
(R):5'- CAGCAGATAGAAGGGGTTTTCC -3'

Sequencing Primer
(F):5'- CTTTCTGCAGAGACAGATACCGTG -3'
(R):5'- GGGTTTTCCATGACTGGCCAC -3'

Posted On

2019-06-07