Mutagenetix > Incidental Mutation

Incidental Mutation 'V7582:9530002B09Rik'

152598

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: 0.079) question?

Stock #

V7582 () 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: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahcy	G	A	2: 154,906,841 (GRCm39)	R151*	probably null	Het
Atp6v1h	A	G	1: 5,194,666 (GRCm39)	T282A	possibly damaging	Het
Cdc42bpb	C	T	12: 111,262,825 (GRCm39)	G1501S	probably benign	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
Fbrsl1	C	T	5: 110,527,292 (GRCm39)	A129T	possibly damaging	Het
Fcgr1	T	C	3: 96,191,592 (GRCm39)	*405W	probably null	Het
Gm4787	G	A	12: 81,424,341 (GRCm39)	Q606*	probably null	Het
Hira	G	A	16: 18,713,571 (GRCm39)	A29T	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
Lpar5	C	A	6: 125,058,690 (GRCm39)	A137E	possibly damaging	Het
Lrp4	C	T	2: 91,318,863 (GRCm39)	S900L	possibly damaging	Het
Med20	G	A	17: 47,929,757 (GRCm39)	V65M	probably damaging	Het
Myrfl	T	C	10: 116,697,435 (GRCm39)	T30A	probably damaging	Het
Or10j7	G	T	1: 173,011,531 (GRCm39)	L157I	probably benign	Het
Otop3	T	A	11: 115,235,664 (GRCm39)	L432Q	probably damaging	Het
Papln	C	T	12: 83,825,608 (GRCm39)	R608C	possibly damaging	Het
Pelp1	T	A	11: 70,288,976 (GRCm39)	T257S	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
Rbbp8nl	T	A	2: 179,920,001 (GRCm39)	T558S	probably benign	Het
Rundc3b	TGCCGCCGCCGCCGCCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCGCCGC	5: 8,672,549 (GRCm39)		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
Thbd	A	T	2: 148,249,110 (GRCm39)	Y253N	probably benign	Het
Tiam1	C	T	16: 89,662,159 (GRCm39)	R653H	probably damaging	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
Zfp292	C	T	4: 34,806,783 (GRCm39)	C2087Y	possibly damaging	Het
Zfp933	G	A	4: 147,910,927 (GRCm39)	A223V	probably damaging	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
V7583:9530002B09Rik	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