Mutagenetix > Incidental Mutation

Incidental Mutation 'R3786:Rtcb'

272265

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

040753-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R3786 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85774501-85793657 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 85778458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 395 (T395K)

Ref Sequence

ENSEMBL: ENSMUSP00000001834 (fasta)

Gene Model

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

AlphaFold

Q99LF4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001834
AA Change: T395K

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000001834
Gene: ENSMUSG00000001783
AA Change: T395K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000156605

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	A	3: 97,066,605 (GRCm39)	L41Q	probably damaging	Het
Aoc1	T	C	6: 48,882,589 (GRCm39)	L177P	probably damaging	Het
Btbd7	C	T	12: 102,804,411 (GRCm39)	E210K	probably benign	Het
C1qtnf12	G	A	4: 156,050,356 (GRCm39)	R231H	probably damaging	Het
Cenpf	T	A	1: 189,390,534 (GRCm39)	E1099D	probably damaging	Het
Dennd3	T	C	15: 73,419,426 (GRCm39)	V739A	possibly damaging	Het
Dmxl1	G	A	18: 49,998,189 (GRCm39)	S763N	probably damaging	Het
Dzip3	C	A	16: 48,795,906 (GRCm39)	C155F	probably benign	Het
Fam161b	A	T	12: 84,408,464 (GRCm39)		probably null	Het
Fancd2	T	G	6: 113,542,165 (GRCm39)	S770A	probably damaging	Het
Gpt2	G	T	8: 86,252,202 (GRCm39)	V506L	probably benign	Het
Hao2	T	A	3: 98,784,068 (GRCm39)	E327V	probably damaging	Het
Heatr1	G	T	13: 12,449,341 (GRCm39)	L1946F	probably damaging	Het
Hnrnpl	A	G	7: 28,510,436 (GRCm39)		probably benign	Het
Itgb1	T	A	8: 129,439,839 (GRCm39)	I176N	probably damaging	Het
Kif13b	C	T	14: 65,037,849 (GRCm39)	T1505I	probably benign	Het
Magi2	C	T	5: 20,670,907 (GRCm39)	T580M	probably damaging	Het
Mettl3	A	T	14: 52,537,363 (GRCm39)	I102N	probably benign	Het
Mgat4c	A	G	10: 102,220,931 (GRCm39)	H71R	probably damaging	Het
Misp	G	A	10: 79,661,795 (GRCm39)	V71I	probably benign	Het
Muc2	A	G	7: 141,283,590 (GRCm39)	Q734R	probably benign	Het
Muc5b	C	T	7: 141,418,853 (GRCm39)	T3933I	possibly damaging	Het
Myh13	A	G	11: 67,218,014 (GRCm39)	N29S	probably benign	Het
Myo15a	A	T	11: 60,368,398 (GRCm39)	Y386F	probably damaging	Het
Neb	C	A	2: 52,091,927 (GRCm39)	V5046F	probably damaging	Het
Neurod1	T	A	2: 79,284,939 (GRCm39)	N148I	probably damaging	Het
Nrg1	A	T	8: 32,311,411 (GRCm39)	V376E	probably damaging	Het
Nsa2	G	T	13: 97,272,042 (GRCm39)	Q60K	possibly damaging	Het
Odr4	A	G	1: 150,260,282 (GRCm39)	I112T	probably benign	Het
Ppp1r21	T	A	17: 88,884,555 (GRCm39)		probably null	Het
Rala	T	A	13: 18,057,031 (GRCm39)	E185V	probably benign	Het
Rhoc	T	C	3: 104,700,003 (GRCm39)		probably null	Het
Robo3	A	G	9: 37,333,521 (GRCm39)	V708A	probably damaging	Het
Rttn	A	G	18: 89,056,018 (GRCm39)	T967A	probably benign	Het
Sacs	C	A	14: 61,421,410 (GRCm39)	Q116K	probably damaging	Het
Smarca4	A	G	9: 21,583,355 (GRCm39)	H1062R	possibly damaging	Het
Spatc1l	C	T	10: 76,399,736 (GRCm39)	T86I	probably benign	Het
Thbs4	T	C	13: 92,909,672 (GRCm39)	N375S	probably benign	Het
Tsc1	A	G	2: 28,577,154 (GRCm39)	D1151G	probably damaging	Het
Ttll1	T	C	15: 83,368,419 (GRCm39)	D413G	probably benign	Het
Wap	G	A	11: 6,588,550 (GRCm39)	Q25*	probably null	Het
Wnt16	A	G	6: 22,298,021 (GRCm39)	N296D	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
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

Predicted Primers

PCR Primer
(F):5'- TGGGATTACAGATGCGAGCG -3'
(R):5'- GCTAGAAAATCCCAAGTAGTGC -3'

Sequencing Primer
(F):5'- CTGGAACTAGGATCACCAGGCTTG -3'
(R):5'- CCCAAGTAGTGCTTTATTATAGCCAC -3'

Posted On

2015-03-25