Mutagenetix > Incidental Mutation

Incidental Mutation 'R5699:Rc3h1'

446540

Institutional Source

Beutler Lab

Gene Symbol

Rc3h1

Ensembl Gene

ENSMUSG00000040423

Gene Name

RING CCCH (C3H) domains 1

Synonyms

roquin, 5730557L09Rik

MMRRC Submission

043327-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.298) question?

Stock #

R5699 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

160733988-160802548 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 160757823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 47 (R47L)

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: R47L

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

SMART Domains

Protein: ENSMUSP00000037178
Gene: ENSMUSG00000040423
AA Change: R47L

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: R47L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000124871
Gene: ENSMUSG00000040423
AA Change: R47L

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700128F08Rik	A	G	9: 8,225,320 (GRCm39)		noncoding transcript	Het
4930486L24Rik	A	G	13: 61,001,410 (GRCm39)	F106L	possibly damaging	Het
Adam11	A	T	11: 102,664,466 (GRCm39)	M385L	probably benign	Het
Adgre1	C	T	17: 57,788,007 (GRCm39)	P925S	probably benign	Het
Adh7	G	A	3: 137,932,087 (GRCm39)	A234T	probably benign	Het
Ano2	A	G	6: 125,849,703 (GRCm39)	E475G	probably damaging	Het
C2cd4c	A	G	10: 79,448,385 (GRCm39)	V254A	probably benign	Het
Car13	A	G	3: 14,715,749 (GRCm39)	Y89C	probably damaging	Het
Cd38	A	G	5: 44,057,728 (GRCm39)	K100R	probably damaging	Het
Cdh11	A	G	8: 103,361,175 (GRCm39)	I721T	probably damaging	Het
Cdh2	G	A	18: 16,779,579 (GRCm39)	Q161*	probably null	Het
Clk1	T	C	1: 58,459,354 (GRCm39)	K135R	probably damaging	Het
Col5a1	G	A	2: 27,887,611 (GRCm39)	G961R	unknown	Het
Cpt1b	T	A	15: 89,308,476 (GRCm39)	I151F	probably benign	Het
Cyp51	A	G	5: 4,151,213 (GRCm39)	F139L	probably damaging	Het
Disp1	TTGA	T	1: 182,870,119 (GRCm39)		probably null	Het
Dnah8	T	C	17: 31,029,298 (GRCm39)	I4089T	probably benign	Het
Dnali1	C	T	4: 124,952,843 (GRCm39)	V227M	possibly damaging	Het
Eml4	T	G	17: 83,717,514 (GRCm39)	S29A	probably benign	Het
Eps8l3	C	A	3: 107,786,895 (GRCm39)	P24T	probably benign	Het
Fancc	A	T	13: 63,478,446 (GRCm39)		probably null	Het
Firrm	A	T	1: 163,785,120 (GRCm39)	V753D	probably benign	Het
Grid2	G	A	6: 63,885,975 (GRCm39)	A124T	probably damaging	Het
Ikbke	C	T	1: 131,204,204 (GRCm39)		probably null	Het
Kyat1	G	A	2: 30,076,662 (GRCm39)	A284V	probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lmbrd2	G	T	15: 9,175,269 (GRCm39)	L393F	probably benign	Het
Lrrc26	T	A	2: 25,180,536 (GRCm39)	L179Q	probably damaging	Het
Mlx	A	G	11: 100,979,520 (GRCm39)	D113G	possibly damaging	Het
Myod1	A	G	7: 46,026,407 (GRCm39)	K104R	probably damaging	Het
Nwd1	G	A	8: 73,429,602 (GRCm39)		probably null	Het
Or56b2j	T	G	7: 104,353,200 (GRCm39)	V142G	probably damaging	Het
Or5b118	A	G	19: 13,448,336 (GRCm39)	M1V	probably null	Het
Or6c3	A	C	10: 129,308,746 (GRCm39)	N62H	probably damaging	Het
Pacsin3	A	T	2: 91,093,126 (GRCm39)	Y206F	probably damaging	Het
Pcdhgb5	T	A	18: 37,864,970 (GRCm39)	V255E	probably damaging	Het
Pdp1	T	C	4: 11,960,907 (GRCm39)	D468G	possibly damaging	Het
Pgr	C	T	9: 8,900,600 (GRCm39)		probably benign	Het
Prrt2	T	A	7: 126,617,899 (GRCm39)	Y345F	probably benign	Het
Rbbp8nl	T	C	2: 179,920,461 (GRCm39)	T515A	probably damaging	Het
Rfpl4b	T	A	10: 38,697,281 (GRCm39)	I107F	possibly damaging	Het
Rsbn1	T	C	3: 103,869,801 (GRCm39)	F754S	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Scn3a	T	C	2: 65,337,608 (GRCm39)	T630A	possibly damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slco1a5	C	A	6: 142,194,542 (GRCm39)	C367F	probably damaging	Het
Slit1	A	G	19: 41,613,959 (GRCm39)		probably null	Het
Slit2	G	A	5: 48,378,333 (GRCm39)		probably null	Het
Snrnp40	G	T	4: 130,258,958 (GRCm39)	G122V	possibly damaging	Het
Stk16	T	A	1: 75,190,248 (GRCm39)	M111K	probably damaging	Het
Tbc1d2	T	C	4: 46,616,298 (GRCm39)	I477V	probably benign	Het
Tll1	T	A	8: 64,570,974 (GRCm39)	E199D	probably damaging	Het
Trhde	A	T	10: 114,424,407 (GRCm39)	D459E	probably benign	Het
Ttn	T	C	2: 76,541,881 (GRCm39)	R25375G	possibly damaging	Het
Tubgcp2	A	T	7: 139,578,701 (GRCm39)	M757K	possibly damaging	Het
Ubap1l	T	A	9: 65,279,337 (GRCm39)	V212D	possibly damaging	Het
Ubqln5	A	G	7: 103,778,632 (GRCm39)	V64A	possibly damaging	Het
Usp47	A	G	7: 111,709,204 (GRCm39)	M1337V	probably benign	Het
Vmn1r201	T	A	13: 22,659,409 (GRCm39)	Y208N	probably damaging	Het
Xkr8	C	T	4: 132,455,368 (GRCm39)	R335H	probably damaging	Het
Zbtb49	A	T	5: 38,373,870 (GRCm39)	C25S	probably damaging	Het
Zeb2	T	A	2: 44,887,800 (GRCm39)	N404I	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
R5421:Rc3h1	UTSW	1	160,779,400 (GRCm39)	critical splice donor site	probably null
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'- TCCAGTGGAATCTTTGCTTTAGA -3'
(R):5'- ATAGCTGTATCTTTGTGTTTTCCATT -3'

Sequencing Primer
(F):5'- GTGTGTGTGTGTGCGTGTTAG -3'
(R):5'- GACACTCCATGCTCATTTTAAGGAC -3'

Posted On

2016-11-21