Mutagenetix > Incidental Mutation

Incidental Mutation 'R4427:4930432E11Rik'

328228

Institutional Source

Beutler Lab

Gene Symbol

4930432E11Rik

Ensembl Gene

ENSMUSG00000046958

Gene Name

RIKEN cDNA 4930432E11 gene

Synonyms

MMRRC Submission

041145-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R4427 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29255998-29276204 bp(+) (GRCm39)

Type of Mutation

exon

DNA Base Change (assembly)

A to T at 29278678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

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

Meta Mutation Damage Score

0.1045

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

96% (48/50)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,522,009 (GRCm39)	E1271G	probably benign	Het
Ccdc88b	C	T	19: 6,827,940 (GRCm39)	E878K	probably damaging	Het
Cfap119	A	G	7: 127,187,288 (GRCm39)		probably benign	Het
Crybg3	T	C	16: 59,363,562 (GRCm39)	K2441E	probably damaging	Het
Cryga	A	T	1: 65,139,775 (GRCm39)	I121N	probably damaging	Het
Dst	A	T	1: 34,220,541 (GRCm39)	Q2115L	probably benign	Het
Evi2	T	A	11: 79,407,182 (GRCm39)	Q131L	possibly damaging	Het
Exoc1	A	G	5: 76,711,110 (GRCm39)	I61V	probably benign	Het
Firrm	A	G	1: 163,781,853 (GRCm39)	V858A	probably benign	Het
Frem2	A	G	3: 53,446,583 (GRCm39)		probably null	Het
Gas2l1	A	G	11: 5,013,908 (GRCm39)	V184A	probably benign	Het
Gsto2	T	C	19: 47,860,212 (GRCm39)	S2P	possibly damaging	Het
Herc1	T	C	9: 66,403,287 (GRCm39)	L4402P	probably damaging	Het
Kcnd2	T	A	6: 21,216,896 (GRCm39)	I200N	probably damaging	Het
Klhl30	A	G	1: 91,281,426 (GRCm39)	D9G	probably damaging	Het
Ltf	C	A	9: 110,852,672 (GRCm39)	T178K	probably damaging	Het
Memo1	T	A	17: 74,509,302 (GRCm39)	Y239F	probably benign	Het
Ogdh	C	T	11: 6,305,421 (GRCm39)	T972I	probably benign	Het
Phactr4	T	C	4: 132,114,352 (GRCm39)	D24G	possibly damaging	Het
Pi4ka	C	T	16: 17,098,908 (GRCm39)	R1992H	probably damaging	Het
Poc1b	T	C	10: 98,991,001 (GRCm39)		probably null	Het
Ppp1r9b	A	T	11: 94,892,150 (GRCm39)	R188S	possibly damaging	Het
Pwwp2a	T	C	11: 43,573,344 (GRCm39)	V142A	possibly damaging	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rap1gap2	C	A	11: 74,298,148 (GRCm39)	A491S	possibly damaging	Het
Rcsd1	C	A	1: 165,483,464 (GRCm39)	V206L	probably damaging	Het
Rps6ka2	T	A	17: 7,566,804 (GRCm39)	D687E	possibly damaging	Het
Sgce	G	A	6: 4,691,459 (GRCm39)	A295V	probably damaging	Het
Siglec15	T	G	18: 78,086,836 (GRCm39)	E341A	possibly damaging	Het
Tcaim	T	C	9: 122,643,561 (GRCm39)	F87S	probably benign	Het
Thbs2	C	A	17: 14,900,597 (GRCm39)	V537L	probably benign	Het
Timd6	T	A	11: 46,475,247 (GRCm39)	F147L	probably benign	Het
Tmx3	T	A	18: 90,541,725 (GRCm39)	V158D	probably damaging	Het
Tpm1	A	G	9: 66,939,847 (GRCm39)		probably benign	Het
Trmt2a	A	G	16: 18,067,093 (GRCm39)		probably benign	Het
Ugcg	T	A	4: 59,219,555 (GRCm39)	F297L	probably benign	Het
Utp18	T	C	11: 93,757,264 (GRCm39)	N467D	probably damaging	Het
Vmn2r73	A	G	7: 85,506,981 (GRCm39)	F777S	probably damaging	Het
Vwc2	A	G	11: 11,104,235 (GRCm39)	T256A	probably damaging	Het
Zfp300	C	T	X: 20,949,405 (GRCm39)	V120I	possibly damaging	Het
Zfp982	A	T	4: 147,597,080 (GRCm39)	R146*	probably null	Het

Other mutations in 4930432E11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01121:4930432E11Rik	APN	7	29,273,426 (GRCm39)	unclassified	noncoding transcript
IGL01955:4930432E11Rik	APN	7	29,273,420 (GRCm39)	unclassified	noncoding transcript
IGL01971:4930432E11Rik	APN	7	29,273,987 (GRCm39)	unclassified	noncoding transcript
IGL02132:4930432E11Rik	APN	7	29,262,704 (GRCm39)	unclassified	noncoding transcript
IGL02484:4930432E11Rik	APN	7	29,262,777 (GRCm39)	unclassified	noncoding transcript
P0016:4930432E11Rik	UTSW	7	29,262,537 (GRCm39)	unclassified	noncoding transcript
R0051:4930432E11Rik	UTSW	7	29,278,526 (GRCm39)	exon	noncoding transcript
R0060:4930432E11Rik	UTSW	7	29,273,595 (GRCm39)	unclassified	noncoding transcript
R0094:4930432E11Rik	UTSW	7	29,260,236 (GRCm39)	exon	noncoding transcript
R0268:4930432E11Rik	UTSW	7	29,274,027 (GRCm39)	unclassified	noncoding transcript
R0423:4930432E11Rik	UTSW	7	29,261,825 (GRCm39)	exon	noncoding transcript
R0478:4930432E11Rik	UTSW	7	29,262,014 (GRCm39)	exon	noncoding transcript
R0646:4930432E11Rik	UTSW	7	29,260,710 (GRCm39)	exon	noncoding transcript
R1208:4930432E11Rik	UTSW	7	29,260,708 (GRCm39)	exon	noncoding transcript
R1778:4930432E11Rik	UTSW	7	29,260,131 (GRCm39)	exon	noncoding transcript
R1779:4930432E11Rik	UTSW	7	29,278,591 (GRCm39)	exon	noncoding transcript
R1918:4930432E11Rik	UTSW	7	29,273,514 (GRCm39)	unclassified	noncoding transcript
R2360:4930432E11Rik	UTSW	7	29,274,214 (GRCm39)	unclassified	noncoding transcript
R3736:4930432E11Rik	UTSW	7	29,273,996 (GRCm39)	unclassified	noncoding transcript
R3780:4930432E11Rik	UTSW	7	29,260,263 (GRCm39)	exon	noncoding transcript
R4835:4930432E11Rik	UTSW	7	29,274,326 (GRCm39)	unclassified	noncoding transcript
R4929:4930432E11Rik	UTSW	7	29,273,467 (GRCm39)	unclassified	noncoding transcript
R5042:4930432E11Rik	UTSW	7	29,273,927 (GRCm39)	unclassified	noncoding transcript
R5129:4930432E11Rik	UTSW	7	29,260,786 (GRCm39)	exon	noncoding transcript
R5371:4930432E11Rik	UTSW	7	29,261,918 (GRCm39)	exon	noncoding transcript
R5381:4930432E11Rik	UTSW	7	29,262,393 (GRCm39)	unclassified	noncoding transcript
R5586:4930432E11Rik	UTSW	7	29,277,153 (GRCm39)	unclassified	noncoding transcript
R5874:4930432E11Rik	UTSW	7	29,280,610 (GRCm39)	exon	noncoding transcript

Predicted Primers

PCR Primer
(F):5'- CCCAGGTAGAGACATTGCTG -3'
(R):5'- CTTTCTGTGCACGAAGCCTC -3'

Sequencing Primer
(F):5'- CATTGCTGAAAAGTGTCCAGG -3'
(R):5'- GTGCACGAAGCCTCTTTTTC -3'

Posted On

2015-07-07