Mutagenetix > Incidental Mutations

Incidental Mutation 'R0083:4930562C15Rik'

19780

Institutional Source

Beutler Lab

Gene Symbol

4930562C15Rik

Ensembl Gene

ENSMUSG00000022518

Gene Name

RIKEN cDNA 4930562C15 gene

Synonyms

MMRRC Submission

038370-MU

Accession Numbers

Ncbi RefSeq: NM_030192.1; MGI:1926059

Is this an essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R0083 (G1)

Quality Score

138

Status

Validated

Chromosome

Chromosomal Location

4835416-4867686 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4849542 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 266 (I266F)

Ref Sequence

ENSEMBL: ENSMUSP00000097784 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100211] [ENSMUST00000175836] [ENSMUST00000177042]

Predicted Effect

unknown
Transcript: ENSMUST00000100211
AA Change: I266F

SMART Domains

Protein: ENSMUSP00000097784
Gene: ENSMUSG00000022518
AA Change: I266F

Domain	Start	End	E-Value	Type
coiled coil region	74	101	N/A	INTRINSIC
coiled coil region	181	211	N/A	INTRINSIC
internal_repeat_1	289	315	2.54e-5	PROSPERO
internal_repeat_1	314	341	2.54e-5	PROSPERO
low complexity region	360	377	N/A	INTRINSIC
low complexity region	402	424	N/A	INTRINSIC
low complexity region	452	469	N/A	INTRINSIC
low complexity region	573	604	N/A	INTRINSIC
low complexity region	616	627	N/A	INTRINSIC
low complexity region	630	647	N/A	INTRINSIC
low complexity region	652	672	N/A	INTRINSIC
Pfam:DUF4795	745	960	1.7e-46	PFAM
low complexity region	1095	1109	N/A	INTRINSIC
low complexity region	1111	1125	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175836

SMART Domains

Protein: ENSMUSP00000135532
Gene: ENSMUSG00000022518

Domain	Start	End	E-Value	Type
internal_repeat_1	72	98	1.04e-6	PROSPERO
internal_repeat_1	97	124	1.04e-6	PROSPERO
low complexity region	143	160	N/A	INTRINSIC
low complexity region	185	207	N/A	INTRINSIC
low complexity region	235	252	N/A	INTRINSIC
internal_repeat_2	253	306	2.47e-5	PROSPERO
internal_repeat_2	297	351	2.47e-5	PROSPERO
low complexity region	356	387	N/A	INTRINSIC
low complexity region	399	410	N/A	INTRINSIC
low complexity region	413	430	N/A	INTRINSIC
low complexity region	435	455	N/A	INTRINSIC
coiled coil region	564	582	N/A	INTRINSIC
low complexity region	590	601	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177042

SMART Domains

Protein: ENSMUSP00000135160
Gene: ENSMUSG00000022518

Domain	Start	End	E-Value	Type
coiled coil region	74	101	N/A	INTRINSIC
coiled coil region	181	211	N/A	INTRINSIC
internal_repeat_1	289	315	2.39e-6	PROSPERO
internal_repeat_1	314	341	2.39e-6	PROSPERO
low complexity region	360	377	N/A	INTRINSIC
low complexity region	402	424	N/A	INTRINSIC
low complexity region	452	469	N/A	INTRINSIC
internal_repeat_2	470	523	5.51e-5	PROSPERO
internal_repeat_2	514	568	5.51e-5	PROSPERO
low complexity region	573	604	N/A	INTRINSIC
low complexity region	616	627	N/A	INTRINSIC
low complexity region	630	647	N/A	INTRINSIC
low complexity region	652	672	N/A	INTRINSIC
coiled coil region	781	799	N/A	INTRINSIC
low complexity region	807	818	N/A	INTRINSIC

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.1%
3x: 97.8%
10x: 94.0%
20x: 83.1%

Validation Efficiency

88% (117/133)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833423E24Rik	A	T	2: 85,494,132	F283L	possibly damaging	Het
Adam39	T	G	8: 40,825,078	F169V	probably damaging	Het
Adcy2	A	T	13: 68,651,935	V858E	probably damaging	Het
Adgrv1	A	G	13: 81,578,404		probably benign	Het
Ankrd26	G	T	6: 118,523,254	H1085Q	probably benign	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
Atg4c	C	T	4: 99,221,440	H215Y	possibly damaging	Het
Atp6v0d2	G	A	4: 19,880,001		probably benign	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
C1qtnf3	G	A	15: 10,975,632	V175I	possibly damaging	Het
Cacna1c	A	G	6: 118,625,523	M1293T	probably damaging	Het
Ccdc88a	T	A	11: 29,503,463	S337T	probably damaging	Het
Cntn4	A	G	6: 106,525,369	I362M	possibly damaging	Het
Col22a1	A	T	15: 71,890,497	D104E	possibly damaging	Het
Col4a4	T	C	1: 82,507,111		probably null	Het
Cul7	C	A	17: 46,655,556	R304S	probably benign	Het
Elfn2	A	T	15: 78,673,414	L311Q	probably damaging	Het
Esrrb	T	C	12: 86,514,452	L320P	probably damaging	Het
Fbxw10	A	G	11: 62,877,061	T903A	probably benign	Het
Fkbp4	G	A	6: 128,432,407		probably benign	Het
Gatad2b	T	A	3: 90,357,943	Y576N	probably damaging	Het
Greb1	T	C	12: 16,696,451	M1273V	probably benign	Het
Helq	C	A	5: 100,768,368	E913*	probably null	Het
Inpp4b	C	A	8: 81,741,462	A18E	possibly damaging	Het
Ints13	A	G	6: 146,550,664	Y686H	probably benign	Het
Itgb7	C	T	15: 102,223,482	R222H	probably damaging	Het
Krt81	A	G	15: 101,463,465	I78T	probably damaging	Het
Lonp2	G	A	8: 86,716,355	V815I	probably benign	Het
Mctp2	G	T	7: 72,228,516	F271L	possibly damaging	Het
Mrto4	C	T	4: 139,347,968	V175I	possibly damaging	Het
Myh14	A	G	7: 44,634,519	V654A	probably damaging	Het
Neu2	A	G	1: 87,597,262	Y323C	probably damaging	Het
Nt5dc1	A	C	10: 34,403,764	M94R	probably damaging	Het
Nup210l	A	G	3: 90,189,575	T1364A	probably damaging	Het
Obscn	T	C	11: 59,022,374	D6939G	probably damaging	Het
Olfr1491	A	T	19: 13,705,678	T284S	probably damaging	Het
Pias4	A	G	10: 81,164,166	S18P	probably damaging	Het
Plcl1	A	G	1: 55,697,939	Y813C	possibly damaging	Het
Plk5	G	A	10: 80,356,662	G34S	possibly damaging	Het
Ptprj	A	T	2: 90,469,777		probably null	Het
Rps6ka2	G	A	17: 7,296,043	D617N	probably benign	Het
Sap130	C	A	18: 31,666,329		probably benign	Het
Sap130	C	T	18: 31,711,641	P902S	probably damaging	Het
Sec11a	A	G	7: 80,935,039	V50A	probably damaging	Het
Sel1l3	C	T	5: 53,137,902	A786T	possibly damaging	Het
Shroom1	T	C	11: 53,466,937	S772P	possibly damaging	Het
Slc15a2	T	C	16: 36,782,283	Y72C	probably damaging	Het
Slc26a6	T	C	9: 108,859,113		probably null	Het
Slc30a5	G	T	13: 100,803,400	A669E	probably damaging	Het
Sppl2c	G	A	11: 104,186,532	V53I	probably benign	Het
Sstr1	T	A	12: 58,213,742	C384S	possibly damaging	Het
Sulf1	A	G	1: 12,817,417	M272V	probably damaging	Het
Tm6sf1	G	A	7: 81,865,345		probably null	Het
Tmem94	A	G	11: 115,796,724		probably benign	Het
Topaz1	A	T	9: 122,775,609	I1093L	probably benign	Het
Ttll4	G	T	1: 74,679,769	V260L	probably benign	Het
Vmn2r26	A	T	6: 124,053,981		probably null	Het
Vmn2r75	G	A	7: 86,165,658	A209V	probably benign	Het
Zfand3	A	G	17: 30,135,398	E63G	probably damaging	Het
Zfp939	A	T	7: 39,474,110		noncoding transcript	Het

Other mutations in 4930562C15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00936:4930562C15Rik	APN	16	4864646	missense	probably benign	0.31
IGL01610:4930562C15Rik	APN	16	4851565	splice site	probably benign
IGL02869:4930562C15Rik	APN	16	4867459	missense	possibly damaging	0.68
IGL03242:4930562C15Rik	APN	16	4849325	missense	unknown
R0063:4930562C15Rik	UTSW	16	4861048	nonsense	probably null
R0063:4930562C15Rik	UTSW	16	4861048	nonsense	probably null
R0565:4930562C15Rik	UTSW	16	4864336	missense	probably benign	0.22
R0630:4930562C15Rik	UTSW	16	4850939	missense	possibly damaging	0.90
R0734:4930562C15Rik	UTSW	16	4850334	missense	probably benign	0.01
R1200:4930562C15Rik	UTSW	16	4849672	missense	unknown
R1738:4930562C15Rik	UTSW	16	4864611	missense	probably damaging	1.00
R1775:4930562C15Rik	UTSW	16	4851558	splice site	probably null
R1945:4930562C15Rik	UTSW	16	4835685	missense	unknown
R2132:4930562C15Rik	UTSW	16	4835971	missense	unknown
R2445:4930562C15Rik	UTSW	16	4864397	splice site	probably null
R2696:4930562C15Rik	UTSW	16	4850364	missense	probably benign	0.04
R4729:4930562C15Rik	UTSW	16	4849323	missense	unknown
R4779:4930562C15Rik	UTSW	16	4849749	missense	unknown
R4806:4930562C15Rik	UTSW	16	4849672	missense	unknown
R4808:4930562C15Rik	UTSW	16	4849672	missense	unknown
R4876:4930562C15Rik	UTSW	16	4849672	missense	unknown
R4931:4930562C15Rik	UTSW	16	4861046	missense	possibly damaging	0.47
R4956:4930562C15Rik	UTSW	16	4854952	missense	probably damaging	0.99
R5085:4930562C15Rik	UTSW	16	4835973	nonsense	probably null
R5203:4930562C15Rik	UTSW	16	4835598	missense	unknown
R5229:4930562C15Rik	UTSW	16	4850051	missense	possibly damaging	0.73
R5461:4930562C15Rik	UTSW	16	4864363	missense	probably damaging	1.00
R5462:4930562C15Rik	UTSW	16	4864363	missense	probably damaging	1.00
R5464:4930562C15Rik	UTSW	16	4864363	missense	probably damaging	1.00
R5595:4930562C15Rik	UTSW	16	4864279	missense	probably benign	0.01
R6054:4930562C15Rik	UTSW	16	4835865	missense	unknown
R6405:4930562C15Rik	UTSW	16	4851878	missense	probably damaging	0.97
R6859:4930562C15Rik	UTSW	16	4851935	missense	possibly damaging	0.86
R7124:4930562C15Rik	UTSW	16	4864332	missense	probably benign	0.02
R7139:4930562C15Rik	UTSW	16	4850184	missense	probably benign	0.00
R7182:4930562C15Rik	UTSW	16	4849714	missense	unknown
R7219:4930562C15Rik	UTSW	16	4849644	missense	unknown
R7366:4930562C15Rik	UTSW	16	4835769	missense	unknown
R7592:4930562C15Rik	UTSW	16	4849274	missense	unknown
R7759:4930562C15Rik	UTSW	16	4864650	missense	probably benign	0.01
R7789:4930562C15Rik	UTSW	16	4864311	missense	probably benign	0.01
R7873:4930562C15Rik	UTSW	16	4866227	missense	probably benign
R7916:4930562C15Rik	UTSW	16	4864590	nonsense	probably null
R8093:4930562C15Rik	UTSW	16	4851504	missense	possibly damaging	0.86
R8169:4930562C15Rik	UTSW	16	4866218	missense	probably benign	0.00
R8278:4930562C15Rik	UTSW	16	4850176	missense	probably benign	0.33
R8372:4930562C15Rik	UTSW	16	4864288	missense	probably damaging	0.99
R8493:4930562C15Rik	UTSW	16	4835589	start codon destroyed	unknown
R8549:4930562C15Rik	UTSW	16	4863197	critical splice donor site	probably null
X0028:4930562C15Rik	UTSW	16	4867367	missense	possibly damaging	0.83
Z1176:4930562C15Rik	UTSW	16	4866248	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- TTCAGTCCGGTGAGCGGAAAAG -3'
(R):5'- AGGCCAATAGTTACCCCTAGCCAAG -3'

Sequencing Primer
(F):5'- CGGAAAAGGAAGACTGGGATAC -3'
(R):5'- TAGCCAAGCCTCTTGGTAAG -3'

Posted On

2013-04-11