Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02505:Rngtt'

296289

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rngtt

Ensembl Gene

ENSMUSG00000028274

Gene Name

RNA guanylyltransferase and 5'-phosphatase

Synonyms

mouse capping enzyme

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.968) question?

Stock #

IGL02505

Quality Score

Status

Chromosome

Chromosomal Location

33310311-33502614 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33337936 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 253 (V253A)

Ref Sequence

ENSEMBL: ENSMUSP00000029942 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029942
AA Change: V253A

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029942
Gene: ENSMUSG00000028274
AA Change: V253A

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

possibly damaging
Transcript: ENSMUST00000108153
AA Change: V253A

PolyPhen 2 Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103788
Gene: ENSMUSG00000028274
AA Change: V253A

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: ENSMUST00000146870

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155397

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	C	A	9: 63,616,814	L68M	probably damaging	Het
Abca13	T	G	11: 9,581,498	L4575W	probably damaging	Het
Abcb11	A	T	2: 69,245,761	V1201D	probably damaging	Het
Aldoa	G	T	7: 126,795,994	A252E	probably damaging	Het
Ap1b1	C	T	11: 5,031,700	A536V	probably benign	Het
Arhgef3	A	G	14: 27,394,000	H233R	possibly damaging	Het
Arhgef40	A	T	14: 52,000,863	E1266D	probably damaging	Het
Atp1a4	C	T	1: 172,235,075	V622M	probably damaging	Het
Aup1	A	G	6: 83,055,277	T142A	probably benign	Het
Bcl6	A	T	16: 23,977,569	I36N	probably damaging	Het
Best1	A	G	19: 9,989,150	S358P	probably damaging	Het
Cadps	T	G	14: 12,449,759	Q1150P	probably damaging	Het
Capn5	T	A	7: 98,131,196	E322D	possibly damaging	Het
Ccdc94	G	T	17: 55,962,051	G53V	probably damaging	Het
Cd300ld2	A	T	11: 115,013,687	M118K	probably benign	Het
Cdh9	T	C	15: 16,855,989	L705P	probably damaging	Het
Cep170b	T	G	12: 112,743,070	N436K	probably damaging	Het
Chil6	T	A	3: 106,405,962	I24F	probably benign	Het
Chmp2a	T	A	7: 13,033,855	K48*	probably null	Het
Col19a1	C	T	1: 24,300,584		probably benign	Het
Cops7b	C	A	1: 86,592,321	Q65K	probably benign	Het
Cyp2e1	T	A	7: 140,769,156	L133H	probably damaging	Het
Dirc2	G	T	16: 35,735,558	D177E	probably benign	Het
Dkc1	T	C	X: 75,108,733		probably benign	Het
Erlec1	A	G	11: 30,950,767	Y134H	probably damaging	Het
F8	C	A	X: 75,379,598		probably benign	Het
Fus	G	A	7: 127,981,507	R252Q	possibly damaging	Het
Fzd3	A	T	14: 65,253,106	D9E	probably benign	Het
Gm15821	T	C	17: 34,214,285		probably benign	Het
Gm5117	C	A	8: 31,738,316		noncoding transcript	Het
H2afy	A	G	13: 56,074,330	V336A	probably damaging	Het
H2-Q6	A	G	17: 35,425,176	I45V	probably benign	Het
Hectd1	A	G	12: 51,800,713		probably null	Het
Ifi204	T	C	1: 173,755,654	K333E	probably benign	Het
Ildr1	G	A	16: 36,716,164	G185D	probably damaging	Het
Itgb2	G	A	10: 77,547,218	D141N	probably damaging	Het
Kdm1b	G	T	13: 47,060,855	D226Y	probably damaging	Het
Krt77	A	G	15: 101,860,946	L460P	probably damaging	Het
Lamp3	A	G	16: 19,655,457	I389T	possibly damaging	Het
Mars	C	A	10: 127,304,244	E414*	probably null	Het
Mpg	T	C	11: 32,230,042	V190A	probably damaging	Het
Myh15	A	G	16: 49,117,263	I742M	possibly damaging	Het
Nell2	A	T	15: 95,296,263		probably benign	Het
Nmur1	T	C	1: 86,386,335	D370G	probably benign	Het
Npsr1	A	G	9: 24,098,282	E28G	probably benign	Het
Olfr569	T	C	7: 102,887,607	E182G	probably damaging	Het
Olfr679	A	T	7: 105,086,333	I206L	probably benign	Het
Olfr8	G	T	10: 78,955,933	V243F	probably benign	Het
Olfr876	G	A	9: 37,804,331	C140Y	probably benign	Het
Pdzrn3	T	C	6: 101,151,938	N589S	possibly damaging	Het
Pkd1l3	T	C	8: 109,633,216	L901P	probably damaging	Het
Plekhg1	G	T	10: 3,957,139	K685N	probably damaging	Het
Prim1	T	A	10: 128,029,783	*419R	probably null	Het
Ptk2b	G	T	14: 66,154,243	N905K	probably damaging	Het
Rbm34	T	C	8: 126,949,321	I395V	probably benign	Het
Rfx1	A	G	8: 84,095,809	E912G	possibly damaging	Het
Slc2a9	A	G	5: 38,436,659	Y169H	possibly damaging	Het
Susd4	C	A	1: 182,892,080	T420K	probably benign	Het
Tdrd3	G	A	14: 87,511,682	G676D	probably damaging	Het
Tec	T	C	5: 72,789,244	K47E	probably damaging	Het
Tenm2	C	A	11: 36,051,916	G1308*	probably null	Het
Tmprss15	A	T	16: 78,987,741	D675E	probably benign	Het
Vmn1r84	A	G	7: 12,362,419	C104R	probably damaging	Het
Vmn2r49	T	A	7: 9,976,451	M785L	probably benign	Het
Vmn2r85	G	T	10: 130,425,580	T296K	probably damaging	Het
Wdr3	C	T	3: 100,151,974	S343N	probably benign	Het
Zfp143	A	T	7: 110,091,786	M515L	possibly damaging	Het
Zfp735	A	G	11: 73,689,800	I42V	probably benign	Het
Zswim5	A	T	4: 116,962,552	M385L	probably benign	Het

Other mutations in Rngtt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01865:Rngtt	APN	4	33325157	splice site	probably benign
IGL01945:Rngtt	APN	4	33339073	missense	probably damaging	1.00
IGL02104:Rngtt	APN	4	33320517	critical splice acceptor site	probably null
IGL02679:Rngtt	APN	4	33356098	missense	possibly damaging	0.65
IGL03309:Rngtt	APN	4	33339091	missense	probably damaging	1.00
R0013:Rngtt	UTSW	4	33379409	missense	probably benign	0.01
R0626:Rngtt	UTSW	4	33329598	splice site	probably null
R0633:Rngtt	UTSW	4	33368690	missense	probably damaging	1.00
R1645:Rngtt	UTSW	4	33362939	missense	probably damaging	1.00
R1670:Rngtt	UTSW	4	33368660	missense	probably benign
R1700:Rngtt	UTSW	4	33330864	missense	probably damaging	1.00
R1754:Rngtt	UTSW	4	33329634	intron	probably null
R1809:Rngtt	UTSW	4	33443614	missense	probably benign	0.04
R1929:Rngtt	UTSW	4	33500302	nonsense	probably null
R2271:Rngtt	UTSW	4	33500302	nonsense	probably null
R2844:Rngtt	UTSW	4	33368678	missense	probably benign
R3773:Rngtt	UTSW	4	33330889	missense	probably damaging	1.00
R4445:Rngtt	UTSW	4	33499035	missense	probably benign
R4449:Rngtt	UTSW	4	33330865	missense	probably damaging	1.00
R4510:Rngtt	UTSW	4	33339032	missense	possibly damaging	0.88
R4511:Rngtt	UTSW	4	33339032	missense	possibly damaging	0.88
R4578:Rngtt	UTSW	4	33339050	missense	probably benign	0.30
R4610:Rngtt	UTSW	4	33339133	intron	probably benign
R4712:Rngtt	UTSW	4	33379394	missense	probably benign	0.00
R4888:Rngtt	UTSW	4	33500335	missense	unknown
R4911:Rngtt	UTSW	4	33500292	splice site	probably null
R5248:Rngtt	UTSW	4	33325110	nonsense	probably null
R6429:Rngtt	UTSW	4	33320606	nonsense	probably null
R6571:Rngtt	UTSW	4	33379413	missense	probably damaging	1.00
R7260:Rngtt	UTSW	4	33356176	missense	possibly damaging	0.52
R7298:Rngtt	UTSW	4	33362927	missense	probably damaging	1.00
R7379:Rngtt	UTSW	4	33498981	nonsense	probably null

Posted On

2015-04-16