Mutagenetix > Incidental Mutation

Incidental Mutation 'R0553:9530002B09Rik'

45273

Institutional Source

Beutler Lab

Gene Symbol

9530002B09Rik

Ensembl Gene

ENSMUSG00000023263

Gene Name

RIKEN cDNA 9530002B09 gene

Synonyms

Aump, Vpp1

MMRRC Submission

038745-MU

Accession Numbers

Essential gene?

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

Stock #

R0553 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122583068-122598922 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122596128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 120 (M120L)

Ref Sequence

ENSEMBL: ENSMUSP00000024032 (fasta)

Gene Model

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

AlphaFold

Q9EPV7

Predicted Effect

unknown
Transcript: ENSMUST00000024032
AA Change: M120L

SMART Domains

Protein: ENSMUSP00000024032
Gene: ENSMUSG00000023263
AA Change: M120L

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

0.0869

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.1%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	T	A	4: 144,503,985 (GRCm39)	I389L	possibly damaging	Het
Adamts13	T	A	2: 26,881,346 (GRCm39)	C774*	probably null	Het
Amh	A	G	10: 80,642,010 (GRCm39)		probably benign	Het
Armh4	T	C	14: 49,920,143 (GRCm39)	I729V	probably damaging	Het
Cd40	G	A	2: 164,912,661 (GRCm39)	R204Q	probably benign	Het
Cfap210	C	A	2: 69,619,785 (GRCm39)	R8L	probably damaging	Het
Clhc1	A	C	11: 29,511,366 (GRCm39)		probably benign	Het
Fbxl17	G	A	17: 63,663,846 (GRCm39)	R67C	probably damaging	Het
Flg2	A	T	3: 93,110,891 (GRCm39)	H973L	unknown	Het
Fut2	T	A	7: 45,300,698 (GRCm39)	I25F	probably damaging	Het
Galnt7	T	C	8: 58,005,464 (GRCm39)		probably benign	Het
Gmppb	A	T	9: 107,926,996 (GRCm39)	M56L	probably benign	Het
Grm3	C	A	5: 9,620,048 (GRCm39)	A399S	probably benign	Het
H2-T5	G	T	17: 36,478,949 (GRCm39)	P100Q	probably damaging	Het
Hey2	G	A	10: 30,716,485 (GRCm39)		probably benign	Het
Ift172	A	G	5: 31,433,186 (GRCm39)		probably benign	Het
Kcnh5	C	A	12: 75,184,447 (GRCm39)	C92F	probably benign	Het
Kdm1a	T	C	4: 136,282,609 (GRCm39)	D229G	probably damaging	Het
Klf11	C	G	12: 24,705,089 (GRCm39)	P164R	probably benign	Het
Klhl41	G	A	2: 69,500,554 (GRCm39)	R5Q	probably benign	Het
Krtcap3	T	C	5: 31,409,147 (GRCm39)	V6A	probably benign	Het
Ltbr	A	C	6: 125,290,351 (GRCm39)		probably null	Het
Mmp17	T	G	5: 129,675,734 (GRCm39)	S298A	probably benign	Het
Nacc2	T	A	2: 25,979,602 (GRCm39)	E278V	possibly damaging	Het
Or5k8	A	T	16: 58,644,518 (GRCm39)	Y185N	probably damaging	Het
Or8b12b	T	A	9: 37,684,627 (GRCm39)	I224N	probably benign	Het
Otop2	C	T	11: 115,220,288 (GRCm39)	A376V	probably damaging	Het
Pdia2	T	C	17: 26,415,217 (GRCm39)	E504G	probably damaging	Het
Pdzph1	C	T	17: 59,229,722 (GRCm39)	V979M	probably damaging	Het
Pou5f1	A	G	17: 35,820,374 (GRCm39)	K86R	possibly damaging	Het
Ptprq	A	G	10: 107,546,488 (GRCm39)	F269L	probably benign	Het
Rb1	A	T	14: 73,449,152 (GRCm39)	C659*	probably null	Het
Rnf8	T	C	17: 29,840,613 (GRCm39)		probably null	Het
Rras	T	G	7: 44,669,980 (GRCm39)	I137M	probably benign	Het
Slc38a9	A	T	13: 112,850,732 (GRCm39)	H372L	probably damaging	Het
Spata9	T	C	13: 76,125,898 (GRCm39)		probably null	Het
Tas2r115	T	C	6: 132,714,922 (GRCm39)	T10A	probably benign	Het
Ttn	T	C	2: 76,629,237 (GRCm39)	E12621G	probably damaging	Het
Unc80	A	T	1: 66,545,828 (GRCm39)	I460F	probably damaging	Het
Wdr17	C	T	8: 55,146,131 (GRCm39)	A90T	possibly damaging	Het
Zbtb24	C	T	10: 41,327,993 (GRCm39)	A293V	possibly damaging	Het
Zpld2	T	C	4: 133,929,829 (GRCm39)	T159A	possibly 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
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
V7583:9530002B09Rik	UTSW	4	122,595,050 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- GCTGGACAACACAGtgatgatgatga -3'
(R):5'- TGAAACTTTggcctggaaaaaagctc -3'

Sequencing Primer
(F):5'- agcacttatctgactgagcc -3'
(R):5'- acagacgaagcagctcac -3'

Posted On

2013-06-11