Mutagenetix > Incidental Mutation

Incidental Mutation 'R0023:Rtcb'

18699

Institutional Source

Beutler Lab

Gene Symbol

Rtcb

Ensembl Gene

ENSMUSG00000001783

Gene Name

RNA 2',3'-cyclic phosphate and 5'-OH ligase

Synonyms

HSPC117, D10Wsu52e

MMRRC Submission

038318-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R0023 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

85774501-85793657 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 85785315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001834]

AlphaFold

Q99LF4

Predicted Effect

probably benign
Transcript: ENSMUST00000001834

SMART Domains

Protein: ENSMUSP00000001834
Gene: ENSMUSG00000001783

Domain	Start	End	E-Value	Type
Pfam:RtcB	61	505	3.3e-143	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139413

Predicted Effect

probably benign
Transcript: ENSMUST00000156605

Coding Region Coverage

1x: 78.2%
3x: 67.5%
10x: 40.9%
20x: 21.9%

Validation Efficiency

89% (77/87)

MGI Phenotype

PHENOTYPE: Mice lacking expression in B cells show impaired immunoglobin secretion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	A	C	4: 144,255,567 (GRCm39)	D329A	probably damaging	Het
Abcc12	T	A	8: 87,264,962 (GRCm39)	H661L	probably damaging	Het
Acsbg2	C	G	17: 57,154,710 (GRCm39)	A481P	probably damaging	Het
Aknad1	T	A	3: 108,688,501 (GRCm39)	C610S	probably benign	Het
Anapc1	T	A	2: 128,520,138 (GRCm39)	K226N	probably damaging	Het
Aqp11	A	T	7: 97,375,896 (GRCm39)	I251N	possibly damaging	Het
Arid1a	G	T	4: 133,418,487 (GRCm39)	T1032K	unknown	Het
Atg16l1	T	C	1: 87,717,187 (GRCm39)	V538A	probably benign	Het
Atp7b	A	T	8: 22,501,089 (GRCm39)	L938Q	probably damaging	Het
Bbs1	C	T	19: 4,956,042 (GRCm39)	A44T	probably damaging	Het
Btbd9	A	T	17: 30,749,188 (GRCm39)	V42E	probably damaging	Het
Carmil3	C	G	14: 55,730,333 (GRCm39)	S15R	probably damaging	Het
Cfap44	T	A	16: 44,241,583 (GRCm39)	F651L	probably benign	Het
Clcn3	A	T	8: 61,386,104 (GRCm39)		probably benign	Het
Copb1	A	T	7: 113,849,329 (GRCm39)	D91E	probably benign	Het
Ctr9	G	A	7: 110,643,154 (GRCm39)	A509T	possibly damaging	Het
Dst	C	T	1: 34,228,200 (GRCm39)	P1606L	probably damaging	Het
Emc1	A	G	4: 139,098,320 (GRCm39)	D767G	probably damaging	Het
Fads1	G	A	19: 10,164,261 (GRCm39)		probably benign	Het
Fcgbpl1	A	G	7: 27,852,837 (GRCm39)	K1375E	probably benign	Het
Frrs1	T	C	3: 116,690,437 (GRCm39)	F27L	probably damaging	Het
Itga2	G	A	13: 115,007,032 (GRCm39)	S432L	possibly damaging	Het
Lrig3	A	C	10: 125,846,088 (GRCm39)	D839A	probably damaging	Het
Macf1	A	T	4: 123,382,107 (GRCm39)		probably benign	Het
Myo6	T	C	9: 80,190,816 (GRCm39)	V789A	possibly damaging	Het
Nasp	A	G	4: 116,462,968 (GRCm39)		probably benign	Het
Nsmaf	A	G	4: 6,408,680 (GRCm39)	Y700H	probably damaging	Het
Plekhs1	T	G	19: 56,466,948 (GRCm39)	S260A	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
R3hdm1	T	C	1: 128,138,929 (GRCm39)		probably benign	Het
Suco	A	T	1: 161,673,154 (GRCm39)		probably null	Het
Synrg	G	T	11: 83,899,479 (GRCm39)	D562Y	probably damaging	Het
Tfip11	T	C	5: 112,479,875 (GRCm39)	S265P	possibly damaging	Het
Ucp3	G	T	7: 100,134,250 (GRCm39)	V288L	probably benign	Het
Xylt1	G	T	7: 117,233,928 (GRCm39)	G485V	probably damaging	Het
Yars1	A	G	4: 129,090,981 (GRCm39)	T130A	probably benign	Het
Zfp652	A	T	11: 95,644,295 (GRCm39)	R205*	probably null	Het

Other mutations in Rtcb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01677:Rtcb	APN	10	85,779,793 (GRCm39)	missense	probably damaging	1.00
IGL02836:Rtcb	APN	10	85,779,806 (GRCm39)	missense	possibly damaging	0.90
R0023:Rtcb	UTSW	10	85,785,315 (GRCm39)	unclassified	probably benign
R0046:Rtcb	UTSW	10	85,793,520 (GRCm39)	missense	probably benign	0.05
R0046:Rtcb	UTSW	10	85,793,520 (GRCm39)	missense	probably benign	0.05
R0589:Rtcb	UTSW	10	85,787,315 (GRCm39)	missense	probably damaging	0.97
R1718:Rtcb	UTSW	10	85,777,881 (GRCm39)	missense	probably damaging	1.00
R1792:Rtcb	UTSW	10	85,778,446 (GRCm39)	missense	probably damaging	1.00
R2011:Rtcb	UTSW	10	85,777,797 (GRCm39)	missense	probably damaging	1.00
R2371:Rtcb	UTSW	10	85,779,697 (GRCm39)	missense	probably benign	0.00
R3786:Rtcb	UTSW	10	85,778,458 (GRCm39)	missense	possibly damaging	0.82
R4272:Rtcb	UTSW	10	85,793,483 (GRCm39)	missense	probably damaging	0.99
R4926:Rtcb	UTSW	10	85,791,600 (GRCm39)	missense	probably benign	0.00
R6272:Rtcb	UTSW	10	85,791,638 (GRCm39)	missense	probably damaging	0.98
R6485:Rtcb	UTSW	10	85,793,508 (GRCm39)	missense	probably benign	0.05
R6711:Rtcb	UTSW	10	85,774,963 (GRCm39)	missense	possibly damaging	0.72
R7487:Rtcb	UTSW	10	85,789,333 (GRCm39)	missense	probably benign	0.02
R7748:Rtcb	UTSW	10	85,777,832 (GRCm39)	missense	probably benign	0.00
R8405:Rtcb	UTSW	10	85,793,534 (GRCm39)	missense	probably benign	0.00
R8422:Rtcb	UTSW	10	85,779,168 (GRCm39)	missense	probably benign
R9254:Rtcb	UTSW	10	85,779,071 (GRCm39)	critical splice donor site	probably null
R9259:Rtcb	UTSW	10	85,774,925 (GRCm39)	missense	probably damaging	1.00
R9379:Rtcb	UTSW	10	85,779,071 (GRCm39)	critical splice donor site	probably null
R9749:Rtcb	UTSW	10	85,785,453 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-03-25