Mutagenetix > Incidental Mutation

Incidental Mutation 'R9259:Rtcb'

702111

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R9259 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85774501-85793657 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85774925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 490 (I490T)

Ref Sequence

ENSEMBL: ENSMUSP00000001834 (fasta)

Gene Model

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

AlphaFold

Q99LF4

Predicted Effect

probably damaging
Transcript: ENSMUST00000001834
AA Change: I490T

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

SMART Domains

Protein: ENSMUSP00000001834
Gene: ENSMUSG00000001783
AA Change: I490T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000156605

Meta Mutation Damage Score

0.4836

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (65/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot6	A	G	12: 84,155,816 (GRCm39)	I255V	possibly damaging	Het
Adcy8	A	T	15: 64,576,604 (GRCm39)	I986N	probably damaging	Het
Agr2	T	A	12: 36,053,863 (GRCm39)	M164K	probably damaging	Het
Akap11	G	A	14: 78,749,949 (GRCm39)	H813Y		Het
Alas1	A	T	9: 106,118,835 (GRCm39)	S195T	probably benign	Het
Aldoart1	T	C	4: 72,770,680 (GRCm39)	T43A	probably benign	Het
Alms1	A	G	6: 85,644,873 (GRCm39)	D2537G	possibly damaging	Het
Alpk3	A	G	7: 80,743,302 (GRCm39)	T1040A	probably damaging	Het
Ankrd16	T	C	2: 11,784,532 (GRCm39)	I120T	probably damaging	Het
Anks4b	A	G	7: 119,773,278 (GRCm39)	E46G	probably benign	Het
Ap3d1	A	T	10: 80,559,661 (GRCm39)	V199E	probably damaging	Het
Atp1a3	A	G	7: 24,696,956 (GRCm39)	S236P	probably damaging	Het
Atp5mc2	T	A	15: 102,571,561 (GRCm39)	N110I	probably damaging	Het
Cabin1	A	G	10: 75,582,576 (GRCm39)	M280T	probably benign	Het
Cdc5l	T	C	17: 45,736,817 (GRCm39)	T134A	possibly damaging	Het
Clec4n	C	A	6: 123,212,424 (GRCm39)	P80Q	probably damaging	Het
Clip3	A	G	7: 29,998,375 (GRCm39)	K274E	probably benign	Het
Cntrob	A	T	11: 69,211,665 (GRCm39)	D186E	possibly damaging	Het
Cplane1	T	C	15: 8,232,787 (GRCm39)	V1102A	possibly damaging	Het
Dcun1d3	A	G	7: 119,457,052 (GRCm39)	V220A	probably benign	Het
Emsy	A	T	7: 98,242,757 (GRCm39)	N1127K	probably benign	Het
Entpd2	C	T	2: 25,288,614 (GRCm39)	S206L	probably damaging	Het
Fgd4	T	C	16: 16,295,325 (GRCm39)	E218G	probably damaging	Het
Fkbp2	G	T	19: 6,955,960 (GRCm39)	Q82K	probably benign	Het
Gpr161	T	C	1: 165,138,025 (GRCm39)	Y204H	probably damaging	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Gstt2	C	T	10: 75,669,511 (GRCm39)	D59N	possibly damaging	Het
Havcr1	A	T	11: 46,661,318 (GRCm39)	D206V	probably damaging	Het
Hoxb9	G	A	11: 96,162,762 (GRCm39)	G132D	probably damaging	Het
Ifi44	C	T	3: 151,454,875 (GRCm39)	V117M	possibly damaging	Het
Inhbe	A	G	10: 127,186,844 (GRCm39)	F112S	probably damaging	Het
Iqgap2	A	T	13: 95,766,561 (GRCm39)	Y1481N	probably damaging	Het
Irak4	A	T	15: 94,456,726 (GRCm39)	H303L	probably damaging	Het
Kdm5d	A	G	Y: 942,640 (GRCm39)	E1435G	possibly damaging	Het
Kifc1	G	T	17: 34,101,165 (GRCm39)	T599K	possibly damaging	Het
Klhl38	T	C	15: 58,186,471 (GRCm39)	E86G	probably benign	Het
Mcub	G	C	3: 129,720,070 (GRCm39)	T141R	probably benign	Het
Moxd2	A	T	6: 40,860,969 (GRCm39)	V274D	probably damaging	Het
Nol6	C	T	4: 41,118,229 (GRCm39)	V803M	possibly damaging	Het
Or8b51	C	T	9: 38,569,642 (GRCm39)		probably benign	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Pbld1	A	G	10: 62,897,436 (GRCm39)	T46A	possibly damaging	Het
Peli3	T	C	19: 4,984,486 (GRCm39)	D192G	probably benign	Het
Perm1	C	T	4: 156,303,607 (GRCm39)	T717I	probably benign	Het
Pim1	G	A	17: 29,710,181 (GRCm39)	A22T	probably benign	Het
Pkp2	C	T	16: 16,043,714 (GRCm39)	P156L	probably damaging	Het
Ppwd1	G	A	13: 104,359,612 (GRCm39)	R130C	probably damaging	Het
Prdm16	C	A	4: 154,430,525 (GRCm39)	W321L	possibly damaging	Het
Ptprd	T	A	4: 75,990,200 (GRCm39)	D504V	probably damaging	Het
Pusl1	T	C	4: 155,975,639 (GRCm39)	T65A	probably damaging	Het
Sec31b	G	T	19: 44,505,855 (GRCm39)	L967I	probably damaging	Het
Sec63	A	C	10: 42,699,937 (GRCm39)	M666L	probably benign	Het
Sh3rf1	G	C	8: 61,806,838 (GRCm39)	A379P	probably benign	Het
Slc7a12	T	A	3: 14,546,376 (GRCm39)	L174I	probably damaging	Het
Sptbn4	C	T	7: 27,067,124 (GRCm39)	S1935N	possibly damaging	Het
Susd6	A	T	12: 80,898,030 (GRCm39)	Q55L	probably benign	Het
Tecpr2	A	G	12: 110,897,867 (GRCm39)	E373G	possibly damaging	Het
Tent5c	T	C	3: 100,379,640 (GRCm39)	Y372C	probably damaging	Het
Tm6sf2	A	T	8: 70,530,585 (GRCm39)	I222L	probably benign	Het
Tsc22d1	T	A	14: 76,654,484 (GRCm39)	V321E	probably damaging	Het
Tspoap1	A	G	11: 87,670,350 (GRCm39)	N172S		Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Vcan	G	A	13: 89,838,989 (GRCm39)	S2185F	probably damaging	Het
Wapl	G	T	14: 34,463,052 (GRCm39)	V1131L	probably benign	Het
Zfp658	A	G	7: 43,224,280 (GRCm39)	M852V	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTTCCAACCCTGTGACAGC -3'
(R):5'- ATATCCCTTTCCAGCACTGAG -3'

Sequencing Primer
(F):5'- TGTGACAGCAGCCTCTCCAC -3'
(R):5'- CAAGACAGGGTTTCTCTGTGTATCC -3'

Posted On

2022-03-25