Mutagenetix > Incidental Mutations

Incidental Mutation 'R3780:4930432E11Rik'

272001

Institutional Source

Beutler Lab

Gene Symbol

4930432E11Rik

Ensembl Gene

ENSMUSG00000046958

Gene Name

RIKEN cDNA 4930432E11 gene

Synonyms

Accession Numbers

NCBI RefSeq: none; Ensembl: ENSMUST00000053635; MGI:3045259

Is this an essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R3780 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29558579-29582169 bp(+) (GRCm38)

Type of Mutation

exon

DNA Base Change (assembly)

G to T at 29560838 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s):

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000053635

SMART Domains

Protein: ENSMUSP00000049518
Gene: ENSMUSG00000046958

Domain	Start	End	E-Value	Type
Blast:WD40	43	79	3e-11	BLAST
WD40	131	172	1.97e2	SMART
WD40	175	214	2.24e-2	SMART
Blast:WD40	257	296	4e-15	BLAST
WD40	393	437	1.32e2	SMART
WD40	494	533	2.15e-4	SMART
low complexity region	598	617	N/A	INTRINSIC
low complexity region	1082	1094	N/A	INTRINSIC
low complexity region	1107	1148	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000063585

SMART Domains

Protein: ENSMUSP00000063695
Gene: ENSMUSG00000051976

Domain	Start	End	E-Value	Type
low complexity region	15	28	N/A	INTRINSIC
internal_repeat_1	35	67	3.29e-5	PROSPERO
internal_repeat_1	73	102	3.29e-5	PROSPERO
low complexity region	122	135	N/A	INTRINSIC
coiled coil region	161	182	N/A	INTRINSIC
low complexity region	216	233	N/A	INTRINSIC
low complexity region	239	249	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185541

Meta Mutation Damage Score

0.0676

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

93% (40/43)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	C	T	12: 81,559,273	V572I	probably damaging	Het
Arhgap32	T	A	9: 32,152,019		probably null	Het
Carmil1	A	T	13: 24,137,169	I281N	probably damaging	Het
Cdh12	T	A	15: 21,585,977		probably null	Het
Cdh7	T	A	1: 110,049,004	V133E	probably benign	Het
Cntrob	A	G	11: 69,302,882	L814P	probably damaging	Het
Csmd1	T	C	8: 16,201,986	N952S	probably damaging	Het
Cspg4	A	G	9: 56,888,233	Y1084C	probably damaging	Het
Dlg5	A	G	14: 24,190,310		probably benign	Het
Glis2	T	C	16: 4,613,896		probably benign	Het
Hif3a	T	C	7: 17,054,713	E111G	probably damaging	Het
Kctd4	A	G	14: 75,962,811	D74G	probably benign	Het
Kif21b	A	T	1: 136,156,226	K737M	probably damaging	Het
Ktn1	G	A	14: 47,706,403		probably benign	Het
Lama2	A	T	10: 27,459,339	N113K	probably damaging	Het
Ltv1	A	G	10: 13,179,200	S409P	probably benign	Het
Mgat4c	A	G	10: 102,388,921	E332G	probably benign	Het
Myh6	A	G	14: 54,963,958	F95L	probably benign	Het
Ndufa4l2	A	G	10: 127,515,420	I27V	probably benign	Het
Npepl1	T	G	2: 174,120,654	L371R	probably damaging	Het
Nudt9	A	G	5: 104,047,106	T23A	probably benign	Het
Ocrl	G	A	X: 47,938,303	V416I	probably benign	Het
Olfr123	T	G	17: 37,796,004	C187G	probably damaging	Het
Padi2	C	T	4: 140,917,737	T94I	probably benign	Het
Pcca	G	A	14: 122,684,885	E353K	probably damaging	Het
Pcdhgb2	T	A	18: 37,691,757	N600K	probably damaging	Het
Pex5l	A	G	3: 32,950,844	L593P	probably damaging	Het
Rbp2	G	A	9: 98,498,826	D62N	probably benign	Het
Rock1	G	T	18: 10,067,575	N1319K	probably benign	Het
Ror1	A	C	4: 100,412,117	D384A	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Sacm1l	A	T	9: 123,552,790	E152D	probably benign	Het
Seh1l	T	C	18: 67,775,017	V3A	probably benign	Het
Serpinb6d	T	A	13: 33,664,114	D20E	probably benign	Het
Serpini1	T	G	3: 75,614,635	N144K	probably damaging	Het
Slc22a23	G	A	13: 34,344,340	T153I	probably benign	Het
Slfn8	A	G	11: 83,017,454	S88P	probably benign	Het
Stpg3	T	A	2: 25,213,863	M154L	probably benign	Het
Vmn2r115	G	A	17: 23,345,172	C106Y	probably damaging	Het
Washc3	C	T	10: 88,219,260	T112M	probably benign	Het
Zfp280d	C	T	9: 72,322,524	T346M	probably damaging	Het

Other mutations in 4930432E11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01121:4930432E11Rik	APN	7	29574001	unclassified	noncoding transcript
IGL01955:4930432E11Rik	APN	7	29573995	unclassified	noncoding transcript
IGL01971:4930432E11Rik	APN	7	29574562	unclassified	noncoding transcript
IGL02132:4930432E11Rik	APN	7	29563279	unclassified	noncoding transcript
IGL02484:4930432E11Rik	APN	7	29563352	unclassified	noncoding transcript
P0016:4930432E11Rik	UTSW	7	29563112	unclassified	noncoding transcript
R0051:4930432E11Rik	UTSW	7	29579101	exon	noncoding transcript
R0060:4930432E11Rik	UTSW	7	29574170	unclassified	noncoding transcript
R0094:4930432E11Rik	UTSW	7	29560811	exon	noncoding transcript
R0268:4930432E11Rik	UTSW	7	29574602	unclassified	noncoding transcript
R0423:4930432E11Rik	UTSW	7	29562400	exon	noncoding transcript
R0478:4930432E11Rik	UTSW	7	29562589	exon	noncoding transcript
R0646:4930432E11Rik	UTSW	7	29561285	exon	noncoding transcript
R1208:4930432E11Rik	UTSW	7	29561283	exon	noncoding transcript
R1778:4930432E11Rik	UTSW	7	29560706	exon	noncoding transcript
R1779:4930432E11Rik	UTSW	7	29579166	exon	noncoding transcript
R1918:4930432E11Rik	UTSW	7	29574089	unclassified	noncoding transcript
R2360:4930432E11Rik	UTSW	7	29574789	unclassified	noncoding transcript
R3736:4930432E11Rik	UTSW	7	29574571	unclassified	noncoding transcript
R4427:4930432E11Rik	UTSW	7	29579253	exon	noncoding transcript
R4835:4930432E11Rik	UTSW	7	29574901	unclassified	noncoding transcript
R4929:4930432E11Rik	UTSW	7	29574042	unclassified	noncoding transcript
R5042:4930432E11Rik	UTSW	7	29574502	unclassified	noncoding transcript
R5129:4930432E11Rik	UTSW	7	29561361	exon	noncoding transcript
R5371:4930432E11Rik	UTSW	7	29562493	exon	noncoding transcript
R5381:4930432E11Rik	UTSW	7	29562968	unclassified	noncoding transcript
R5586:4930432E11Rik	UTSW	7	29577728	unclassified	noncoding transcript
R5874:4930432E11Rik	UTSW	7	29581185	exon	noncoding transcript

Predicted Primers

PCR Primer
(F):5'- ATTGTGACGATATGCGCCTGAG -3'
(R):5'- TAGAAGGTGTTCTGTGGCAC -3'

Sequencing Primer
(F):5'- TTTGGAGACCATCACCAGGAGTTC -3'
(R):5'- CACAGCCACAGGAGCAGG -3'

Posted On

2015-03-25