Mutagenetix > Incidental Mutation

Incidental Mutation 'R6429:Rngtt'

518414

Institutional Source

Beutler Lab

Gene Symbol

Rngtt

Ensembl Gene

ENSMUSG00000028274

Gene Name

RNA guanylyltransferase and 5'-phosphatase

Synonyms

mouse capping enzyme

MMRRC Submission

044567-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R6429 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33310311-33502614 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 33320606 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 51 (S51*)

Ref Sequence

ENSEMBL: ENSMUSP00000103788 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029942] [ENSMUST00000108153]

AlphaFold

O55236

PDB Structure

CRYSTAL STRUCTURE OF THE RNA TRIPHOSPHATASE DOMAIN OF MOUSE MRNA CAPPING ENZYME [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE OXIDIZED RNA TRIPHOSPHATASE DOMAIN OF MOUSE MRNA CAPPING ENZYME [X-RAY DIFFRACTION]
Crystal structure of mammalian capping enzyme (Mce1) and Pol II CTD complex [X-RAY DIFFRACTION]

Predicted Effect

probably null
Transcript: ENSMUST00000029942
AA Change: S51*

SMART Domains

Protein: ENSMUSP00000029942
Gene: ENSMUSG00000028274
AA Change: S51*

Domain	Start	End	E-Value	Type
Pfam:DSPc	46	179	4.7e-12	PFAM
low complexity region	195	205	N/A	INTRINSIC
Pfam:mRNA_cap_enzyme	272	460	1.8e-73	PFAM
Pfam:mRNA_cap_C	463	550	3.7e-28	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000108153
AA Change: S51*

SMART Domains

Protein: ENSMUSP00000103788
Gene: ENSMUSG00000028274
AA Change: S51*

Domain	Start	End	E-Value	Type
Pfam:DSPc	47	179	2.2e-13	PFAM
low complexity region	195	205	N/A	INTRINSIC
Pfam:mRNA_cap_enzyme	272	460	2e-80	PFAM
Pfam:mRNA_cap_C	464	559	1.9e-22	PFAM
low complexity region	577	590	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130138

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155397

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	G	A	5: 114,366,652 (GRCm39)	E1565K	probably damaging	Het
Amy1	T	C	3: 113,363,158 (GRCm39)	N63S	probably damaging	Het
Arhgef15	G	T	11: 68,838,622 (GRCm39)	N591K	probably damaging	Het
AW551984	A	G	9: 39,511,910 (GRCm39)	S34P	probably damaging	Het
C2cd3	A	G	7: 100,081,298 (GRCm39)	D127G	probably damaging	Het
Ccdc87	T	A	19: 4,891,263 (GRCm39)	V585E	probably benign	Het
Cemip2	T	C	19: 21,779,272 (GRCm39)	C361R	probably benign	Het
Cul2	T	C	18: 3,421,345 (GRCm39)	I223T	probably damaging	Het
Dgkq	C	T	5: 108,801,574 (GRCm39)	V495M	probably damaging	Het
Dpp10	A	G	1: 123,295,330 (GRCm39)	I570T	possibly damaging	Het
Dstyk	C	T	1: 132,377,542 (GRCm39)	Q383*	probably null	Het
Emilin2	C	A	17: 71,617,951 (GRCm39)		probably benign	Het
Fnip1	A	G	11: 54,406,393 (GRCm39)	I1163M	probably damaging	Het
Fryl	C	T	5: 73,248,094 (GRCm39)	E1008K	possibly damaging	Het
Gm35315	A	T	5: 110,226,525 (GRCm39)	Y305N	possibly damaging	Het
Grhl3	T	A	4: 135,284,507 (GRCm39)	D195V	probably damaging	Het
Ift56	T	A	6: 38,375,248 (GRCm39)	S250T	possibly damaging	Het
Il33	T	C	19: 29,929,400 (GRCm39)	F41S	probably benign	Het
Il4	A	G	11: 53,504,736 (GRCm39)	S15P	possibly damaging	Het
Inf2	C	T	12: 112,570,690 (GRCm39)	P410S	probably benign	Het
Kalrn	T	A	16: 34,152,534 (GRCm39)	D349V	possibly damaging	Het
Krt4	A	G	15: 101,831,229 (GRCm39)	M224T	probably benign	Het
Lrp2	C	T	2: 69,291,631 (GRCm39)	S3516N	probably damaging	Het
Macf1	A	T	4: 123,295,387 (GRCm39)		probably null	Het
Msr1	G	A	8: 40,068,858 (GRCm39)	P213S	probably damaging	Het
Nptx1	G	T	11: 119,435,547 (GRCm39)	C256*	probably null	Het
Nr1d1	T	C	11: 98,662,840 (GRCm39)	Y51C	probably damaging	Het
Or4c11c	G	A	2: 88,661,869 (GRCm39)	R136Q	probably benign	Het
Panx3	T	C	9: 37,572,461 (GRCm39)	D363G	probably damaging	Het
Pira13	A	T	7: 3,825,345 (GRCm39)	H432Q	possibly damaging	Het
Prkag1	A	G	15: 98,712,404 (GRCm39)	F143L	probably damaging	Het
Ptger4	T	C	15: 5,272,478 (GRCm39)	K72R	possibly damaging	Het
Pvrig-ps	A	G	5: 138,340,312 (GRCm39)	T28A	probably benign	Het
Rhod	C	T	19: 4,476,133 (GRCm39)	C206Y	probably benign	Het
Rreb1	T	G	13: 38,116,105 (GRCm39)	S1155A	probably benign	Het
Scn9a	A	C	2: 66,357,307 (GRCm39)	I998S	possibly damaging	Het
Sfmbt1	T	A	14: 30,495,868 (GRCm39)	F50L	probably damaging	Het
Six4	A	T	12: 73,150,247 (GRCm39)	V766D	probably damaging	Het
Smpd1	T	C	7: 105,206,135 (GRCm39)	I421T	probably damaging	Het
Son	T	A	16: 91,455,054 (GRCm39)	M1267K	probably benign	Het
Styk1	T	A	6: 131,287,027 (GRCm39)	D156V	possibly damaging	Het
Supt3	A	G	17: 45,430,030 (GRCm39)	E361G	probably benign	Het
Tbx3	T	A	5: 119,812,256 (GRCm39)	Y185*	probably null	Het
Trpm1	A	T	7: 63,918,252 (GRCm39)	T531S	probably benign	Het
Tspan32	T	A	7: 142,572,479 (GRCm39)	W172R	possibly damaging	Het
Urb1	A	T	16: 90,559,318 (GRCm39)		probably null	Het
Vmn2r70	T	A	7: 85,208,276 (GRCm39)	I734F	probably damaging	Het
Vwa7	A	G	17: 35,243,175 (GRCm39)	T618A	probably benign	Het
Wac	T	A	18: 7,920,163 (GRCm39)	V339E	probably damaging	Het
Wrn	G	A	8: 33,833,024 (GRCm39)	T156M	probably damaging	Het
Zeb1	T	A	18: 5,770,498 (GRCm39)	C884S	probably damaging	Het
Zfp747l1	T	C	7: 126,984,214 (GRCm39)		probably benign	Het
Zmpste24	A	G	4: 120,952,867 (GRCm39)	V10A	probably damaging	Het

Other mutations in Rngtt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01865:Rngtt	APN	4	33,325,157 (GRCm39)	splice site	probably benign
IGL01945:Rngtt	APN	4	33,339,073 (GRCm39)	missense	probably damaging	1.00
IGL02104:Rngtt	APN	4	33,320,517 (GRCm39)	critical splice acceptor site	probably null
IGL02505:Rngtt	APN	4	33,337,936 (GRCm39)	missense	possibly damaging	0.75
IGL02679:Rngtt	APN	4	33,356,098 (GRCm39)	missense	possibly damaging	0.65
IGL03309:Rngtt	APN	4	33,339,091 (GRCm39)	missense	probably damaging	1.00
R0013:Rngtt	UTSW	4	33,379,409 (GRCm39)	missense	probably benign	0.01
R0626:Rngtt	UTSW	4	33,329,598 (GRCm39)	splice site	probably null
R0633:Rngtt	UTSW	4	33,368,690 (GRCm39)	missense	probably damaging	1.00
R1645:Rngtt	UTSW	4	33,362,939 (GRCm39)	missense	probably damaging	1.00
R1670:Rngtt	UTSW	4	33,368,660 (GRCm39)	missense	probably benign
R1700:Rngtt	UTSW	4	33,330,864 (GRCm39)	missense	probably damaging	1.00
R1754:Rngtt	UTSW	4	33,329,634 (GRCm39)	splice site	probably null
R1809:Rngtt	UTSW	4	33,443,614 (GRCm39)	missense	probably benign	0.04
R1929:Rngtt	UTSW	4	33,500,302 (GRCm39)	nonsense	probably null
R2271:Rngtt	UTSW	4	33,500,302 (GRCm39)	nonsense	probably null
R2844:Rngtt	UTSW	4	33,368,678 (GRCm39)	missense	probably benign
R3773:Rngtt	UTSW	4	33,330,889 (GRCm39)	missense	probably damaging	1.00
R4445:Rngtt	UTSW	4	33,499,035 (GRCm39)	missense	probably benign
R4449:Rngtt	UTSW	4	33,330,865 (GRCm39)	missense	probably damaging	1.00
R4510:Rngtt	UTSW	4	33,339,032 (GRCm39)	missense	possibly damaging	0.88
R4511:Rngtt	UTSW	4	33,339,032 (GRCm39)	missense	possibly damaging	0.88
R4578:Rngtt	UTSW	4	33,339,050 (GRCm39)	missense	probably benign	0.30
R4610:Rngtt	UTSW	4	33,339,133 (GRCm39)	intron	probably benign
R4712:Rngtt	UTSW	4	33,379,394 (GRCm39)	missense	probably benign	0.00
R4888:Rngtt	UTSW	4	33,500,335 (GRCm39)	missense	unknown
R4911:Rngtt	UTSW	4	33,500,292 (GRCm39)	splice site	probably null
R5248:Rngtt	UTSW	4	33,325,110 (GRCm39)	nonsense	probably null
R6571:Rngtt	UTSW	4	33,379,413 (GRCm39)	missense	probably damaging	1.00
R7260:Rngtt	UTSW	4	33,356,176 (GRCm39)	missense	possibly damaging	0.52
R7298:Rngtt	UTSW	4	33,362,927 (GRCm39)	missense	probably damaging	1.00
R7379:Rngtt	UTSW	4	33,498,981 (GRCm39)	nonsense	probably null
R8163:Rngtt	UTSW	4	33,325,109 (GRCm39)	missense	probably damaging	1.00
R8717:Rngtt	UTSW	4	33,368,695 (GRCm39)	missense	probably damaging	1.00
R9136:Rngtt	UTSW	4	33,404,218 (GRCm39)	missense	probably damaging	1.00
R9324:Rngtt	UTSW	4	33,320,613 (GRCm39)	nonsense	probably null
R9749:Rngtt	UTSW	4	33,368,618 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- ATTTTAAGAAGGCAGCTTTGGAA -3'
(R):5'- GGACCAGTGAGGAAAGACCC -3'

Sequencing Primer
(F):5'- GCAGCTTTGGAATGGCAAATTAC -3'
(R):5'- TTTCAAAAACAAAAGGTGACTGGTGC -3'

Posted On

2018-05-24