Mutagenetix > Incidental Mutation

Incidental Mutation 'V7583:9530002B09Rik'

152645

Institutional Source

Beutler Lab

Gene Symbol

9530002B09Rik

Ensembl Gene

ENSMUSG00000023263

Gene Name

RIKEN cDNA 9530002B09 gene

Synonyms

Aump, Vpp1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

V7583 () of strain stinger

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122583068-122598922 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122595050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 102 (H102L)

Ref Sequence

ENSEMBL: ENSMUSP00000024032 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024032]

AlphaFold

Q9EPV7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024032
AA Change: H102L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000024032
Gene: ENSMUSG00000023263
AA Change: H102L

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Palm_thioest	37	129	1.9e-8	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6v1h	A	G	1: 5,194,666 (GRCm39)	T282A	possibly damaging	Het
Cdc42bpb	C	T	12: 111,262,825 (GRCm39)	G1501S	probably benign	Het
D630003M21Rik	T	C	2: 158,042,931 (GRCm39)	T870A	probably benign	Het
Dcaf4	C	A	12: 83,584,475 (GRCm39)		probably null	Het
Dnajc22	T	A	15: 98,999,363 (GRCm39)	Y183N	probably damaging	Het
Dpyd	C	T	3: 118,690,775 (GRCm39)	Q295*	probably null	Het
Dync2i1	A	C	12: 116,175,460 (GRCm39)	S906A	possibly damaging	Het
Erv3	T	C	2: 131,697,846 (GRCm39)	H171R	possibly damaging	Het
Fam221b	T	C	4: 43,665,865 (GRCm39)	T249A	probably benign	Het
Fcgr1	T	C	3: 96,191,592 (GRCm39)	*405W	probably null	Het
Gm10770	T	A	2: 150,021,404 (GRCm39)	K38*	probably null	Het
Golga4	A	G	9: 118,385,143 (GRCm39)	E727G	possibly damaging	Het
Hnrnpab	A	T	11: 51,493,451 (GRCm39)	N252K	probably benign	Het
Ing1	T	C	8: 11,611,934 (GRCm39)	V124A	probably damaging	Het
Izumo4	A	T	10: 80,539,725 (GRCm39)	T155S	probably benign	Het
Kcnb2	A	G	1: 15,780,315 (GRCm39)	I396V	probably benign	Het
Lrp4	C	T	2: 91,318,863 (GRCm39)	S900L	possibly damaging	Het
Mbd5	A	G	2: 49,206,422 (GRCm39)	D1713G	probably damaging	Het
Muc6	T	G	7: 141,233,880 (GRCm39)	E808A	probably benign	Het
Mylk	G	T	16: 34,815,574 (GRCm39)		probably null	Het
Nbeal2	A	G	9: 110,467,005 (GRCm39)	V670A	possibly damaging	Het
Nphp3	T	C	9: 103,913,093 (GRCm39)		probably null	Het
Numbl	T	C	7: 26,979,027 (GRCm39)	S379P	probably benign	Het
Otop3	T	A	11: 115,235,664 (GRCm39)	L432Q	probably damaging	Het
Pelp1	T	A	11: 70,288,976 (GRCm39)	T257S	probably damaging	Het
Pigx	T	C	16: 31,906,240 (GRCm39)	D129G	probably damaging	Het
Pik3cd	A	C	4: 149,741,776 (GRCm39)	L390R	probably damaging	Het
Plekhb1	T	C	7: 100,303,825 (GRCm39)	T112A	probably benign	Het
Recql4	T	C	15: 76,590,369 (GRCm39)	D705G	possibly damaging	Het
Ror1	A	G	4: 100,298,130 (GRCm39)	Q501R	probably damaging	Het
Sirpb1b	A	G	3: 15,568,243 (GRCm39)	V366A	probably benign	Het
Slc30a4	T	A	2: 122,531,458 (GRCm39)	M136L	probably benign	Het
Spaca1	T	C	4: 34,039,311 (GRCm39)	E192G	probably damaging	Het
Spata31	C	A	13: 65,069,462 (GRCm39)	P537T	probably benign	Het
Tnrc6c	G	A	11: 117,614,152 (GRCm39)	R770H	probably damaging	Het
Toe1	A	T	4: 116,663,308 (GRCm39)	N56K	probably damaging	Het
Tprkb	A	G	6: 85,905,764 (GRCm39)	K150E	probably damaging	Het
Trps1	T	C	15: 50,694,973 (GRCm39)	K150E	probably damaging	Het
Tspyl3	A	G	2: 153,066,980 (GRCm39)	V86A	probably benign	Het
Vps18	A	G	2: 119,127,709 (GRCm39)	Y844C	probably benign	Het
Wdr72	T	A	9: 74,064,552 (GRCm39)	I528N	probably damaging	Het
Zfp292	C	T	4: 34,806,783 (GRCm39)	C2087Y	possibly damaging	Het
Zfp933	G	A	4: 147,910,927 (GRCm39)	A223V	probably damaging	Het
Zmynd8	G	A	2: 165,654,314 (GRCm39)	R724*	probably null	Het

Other mutations in 9530002B09Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02824:9530002B09Rik	APN	4	122,596,112 (GRCm39)	splice site	probably benign
F5770:9530002B09Rik	UTSW	4	122,595,050 (GRCm39)	missense	possibly damaging	0.71
R0391:9530002B09Rik	UTSW	4	122,594,970 (GRCm39)	splice site	probably benign
R0553:9530002B09Rik	UTSW	4	122,596,128 (GRCm39)	missense	unknown
R2063:9530002B09Rik	UTSW	4	122,583,115 (GRCm39)	start gained	probably benign
R2064:9530002B09Rik	UTSW	4	122,583,115 (GRCm39)	start gained	probably benign
R2065:9530002B09Rik	UTSW	4	122,583,115 (GRCm39)	start gained	probably benign
R2066:9530002B09Rik	UTSW	4	122,583,115 (GRCm39)	start gained	probably benign
R2067:9530002B09Rik	UTSW	4	122,583,115 (GRCm39)	start gained	probably benign
R2095:9530002B09Rik	UTSW	4	122,596,151 (GRCm39)	nonsense	probably null
R2146:9530002B09Rik	UTSW	4	122,583,198 (GRCm39)	nonsense	probably null
R4584:9530002B09Rik	UTSW	4	122,594,979 (GRCm39)	missense	possibly damaging	0.84
R4965:9530002B09Rik	UTSW	4	122,594,285 (GRCm39)	missense	probably benign	0.05
R8844:9530002B09Rik	UTSW	4	122,595,011 (GRCm39)	missense	possibly damaging	0.71
R9532:9530002B09Rik	UTSW	4	122,596,133 (GRCm39)	missense	unknown
V7581:9530002B09Rik	UTSW	4	122,595,050 (GRCm39)	missense	possibly damaging	0.71
V7582:9530002B09Rik	UTSW	4	122,595,050 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- GCAAACCTTCTCCACATTGACTTGTACT -3'
(R):5'- TCCACAAAGCTTCTTACTGGCACATT -3'

Sequencing Primer
(F):5'- aggagaaggaaggtgagagg -3'
(R):5'- ACTGGCACATTTTAAAACTGATTTC -3'

Posted On

2014-01-29