Mutagenetix > Incidental Mutations

Incidental Mutation 'R5128:4930430A15Rik'

394849

Institutional Source

Beutler Lab

Gene Symbol

4930430A15Rik

Ensembl Gene

ENSMUSG00000027157

Gene Name

RIKEN cDNA 4930430A15 gene

Synonyms

MMRRC Submission

042716-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R5128 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111162061-111229602 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 111164329 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 251 (Q251*)

Ref Sequence

ENSEMBL: ENSMUSP00000117759 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000142636]

Predicted Effect

probably null
Transcript: ENSMUST00000142636
AA Change: Q251*

SMART Domains

Protein: ENSMUSP00000117759
Gene: ENSMUSG00000027157
AA Change: Q251*

Domain	Start	End	E-Value	Type
internal_repeat_1	1	69	7.48e-6	PROSPERO
internal_repeat_1	81	153	7.48e-6	PROSPERO
low complexity region	168	183	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	G	7: 45,989,646	S958P	probably benign	Het
Ahnak	T	C	19: 9,017,087	L5245P	probably damaging	Het
Alg5	T	A	3: 54,742,137		probably null	Het
Anapc1	A	G	2: 128,659,917	V735A	probably benign	Het
Arhgap45	A	G	10: 80,030,959	T1099A	probably benign	Het
Cacna1e	A	C	1: 154,402,021	S2062A	probably damaging	Het
Chrna9	A	G	5: 65,971,222	S258G	probably benign	Het
Ctcfl	T	C	2: 173,117,396	E179G	probably benign	Het
Dcdc2a	C	A	13: 25,102,529	A145E	probably damaging	Het
Dgkz	A	G	2: 91,942,683	I343T	probably damaging	Het
Dnah1	T	C	14: 31,296,195		probably null	Het
Dqx1	T	C	6: 83,060,567	L374P	probably damaging	Het
Entpd5	A	T	12: 84,394,690	F101L	probably benign	Het
Esco1	A	T	18: 10,567,468		probably benign	Het
Fgf1	C	A	18: 38,842,025	V124L	probably benign	Het
Gm16380	C	T	9: 53,884,113		noncoding transcript	Het
Grid2	G	A	6: 64,665,998	A915T	probably benign	Het
Inhbc	A	T	10: 127,357,742	M135K	probably benign	Het
Mertk	C	A	2: 128,738,247	T207K	probably damaging	Het
Mroh9	C	G	1: 163,060,760	G249R	probably damaging	Het
Mtmr10	C	T	7: 64,333,439	T498I	probably damaging	Het
Muc3	A	G	5: 137,138,186		probably null	Het
Nlrp1c-ps	G	T	11: 71,279,595		noncoding transcript	Het
Nphp4	T	A	4: 152,502,991	I267N	probably benign	Het
Obox8	A	G	7: 14,332,090	W168R	probably damaging	Het
Olfr1247	A	T	2: 89,609,303	D266E	probably damaging	Het
Olfr143	T	C	9: 38,253,570	L48P	probably damaging	Het
Olfr330	A	T	11: 58,529,422	V188E	probably damaging	Het
Pafah1b1	A	G	11: 74,679,436		probably benign	Het
Palld	T	C	8: 61,720,588	T346A	probably damaging	Het
Pip4k2b	A	G	11: 97,718,876	S412P	probably benign	Het
Scn3a	T	C	2: 65,508,518	S606G	probably benign	Het
Slc12a7	G	T	13: 73,805,433	S754I	probably benign	Het
Tep1	A	G	14: 50,844,279	*489R	probably null	Het
Tnn	A	T	1: 160,122,894	V714E	probably damaging	Het
Trappc9	A	T	15: 73,058,393	I38N	probably damaging	Het
Ttc16	T	A	2: 32,762,997	I550F	probably benign	Het
Vit	T	C	17: 78,625,146	S561P	probably damaging	Het
Zdhhc1	T	A	8: 105,483,636	I50F	probably benign	Het
Zfp451	C	T	1: 33,802,933		probably benign	Het
Zfp597	G	A	16: 3,872,124		probably benign	Het

Other mutations in 4930430A15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:4930430A15Rik	APN	2	111220762	missense	probably damaging	0.98
IGL01403:4930430A15Rik	APN	2	111229170	unclassified	probably benign
IGL01431:4930430A15Rik	APN	2	111225395	unclassified	probably benign
IGL01601:4930430A15Rik	APN	2	111193478	missense	unknown
IGL01649:4930430A15Rik	APN	2	111214576	splice site	probably benign
IGL02355:4930430A15Rik	APN	2	111211651	splice site	probably benign
IGL02362:4930430A15Rik	APN	2	111211651	splice site	probably benign
IGL02485:4930430A15Rik	APN	2	111228325	missense	probably damaging	0.97
IGL02620:4930430A15Rik	APN	2	111211625	missense	probably benign	0.00
IGL03156:4930430A15Rik	APN	2	111200412	missense	possibly damaging	0.90
IGL02980:4930430A15Rik	UTSW	2	111164473	missense	unknown
R0577:4930430A15Rik	UTSW	2	111194349	missense	probably benign	0.27
R0638:4930430A15Rik	UTSW	2	111200418	missense	probably damaging	0.96
R0645:4930430A15Rik	UTSW	2	111214583	critical splice donor site	probably null
R0671:4930430A15Rik	UTSW	2	111204137	missense	possibly damaging	0.93
R0829:4930430A15Rik	UTSW	2	111198105	missense	possibly damaging	0.92
R1464:4930430A15Rik	UTSW	2	111225403	critical splice donor site	probably null
R1464:4930430A15Rik	UTSW	2	111225403	critical splice donor site	probably null
R1486:4930430A15Rik	UTSW	2	111200358	missense	possibly damaging	0.84
R1509:4930430A15Rik	UTSW	2	111218627	missense	probably benign
R1672:4930430A15Rik	UTSW	2	111220774	missense	probably benign	0.00
R2073:4930430A15Rik	UTSW	2	111200418	missense	probably damaging	0.96
R2074:4930430A15Rik	UTSW	2	111200418	missense	probably damaging	0.96
R2075:4930430A15Rik	UTSW	2	111200418	missense	probably damaging	0.96
R2899:4930430A15Rik	UTSW	2	111220670	splice site	probably benign
R2965:4930430A15Rik	UTSW	2	111204019	missense	possibly damaging	0.61
R3110:4930430A15Rik	UTSW	2	111228054	missense	probably damaging	1.00
R3112:4930430A15Rik	UTSW	2	111228054	missense	probably damaging	1.00
R4489:4930430A15Rik	UTSW	2	111220702	missense	probably benign	0.31
R4821:4930430A15Rik	UTSW	2	111204145	critical splice acceptor site	probably null
R4925:4930430A15Rik	UTSW	2	111218616	missense	probably benign	0.41
R5045:4930430A15Rik	UTSW	2	111193459	missense	unknown
R5057:4930430A15Rik	UTSW	2	111225421	missense	probably benign	0.12
R5250:4930430A15Rik	UTSW	2	111228077	missense	possibly damaging	0.87
R5333:4930430A15Rik	UTSW	2	111194337	missense	possibly damaging	0.92
R5376:4930430A15Rik	UTSW	2	111215599	missense	probably benign	0.44
R5677:4930430A15Rik	UTSW	2	111211565	missense	probably benign
R5722:4930430A15Rik	UTSW	2	111204123	missense	probably benign
R5735:4930430A15Rik	UTSW	2	111225492	nonsense	probably null
R6170:4930430A15Rik	UTSW	2	111227948	missense	probably benign	0.03
R6366:4930430A15Rik	UTSW	2	111169592	critical splice donor site	probably null
R6496:4930430A15Rik	UTSW	2	111164472	missense	unknown
R6654:4930430A15Rik	UTSW	2	111171884	missense	unknown
R6983:4930430A15Rik	UTSW	2	111228250	critical splice donor site	probably null
R7371:4930430A15Rik	UTSW	2	111193481	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CAAGGTATGTGACTTAGACTTCAC -3'
(R):5'- TGCTATTCCCAAACCTAAACATGAG -3'

Sequencing Primer
(F):5'- CTTCACAACTTTAAACACATTATCCC -3'
(R):5'- CTTTGATATTTTAGACTCTCCTGAGG -3'

Posted On

2016-06-21