Mutagenetix > Incidental Mutation

Incidental Mutation 'R8844:9530002B09Rik'

674592

Institutional Source

Beutler Lab

Gene Symbol

9530002B09Rik

Ensembl Gene

ENSMUSG00000023263

Gene Name

RIKEN cDNA 9530002B09 gene

Synonyms

Aump, Vpp1

MMRRC Submission

068733-MU

Accession Numbers

Essential gene?

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

Stock #

R8844 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122583068-122598922 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122595011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 89 (H89L)

Ref Sequence

ENSEMBL: ENSMUSP00000024032 (fasta)

Gene Model

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

AlphaFold

Q9EPV7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024032
AA Change: H89L

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

SMART Domains

Protein: ENSMUSP00000024032
Gene: ENSMUSG00000023263
AA Change: H89L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	C	19: 8,984,254 (GRCm39)	V1846A	probably damaging	Het
Arhgap9	A	T	10: 127,161,015 (GRCm39)	T181S	probably benign	Het
Bmp10	A	G	6: 87,410,681 (GRCm39)	Y158C	probably damaging	Het
Clec14a	A	G	12: 58,315,599 (GRCm39)	C8R	possibly damaging	Het
Cntln	A	G	4: 84,892,234 (GRCm39)	H373R	probably damaging	Het
Cpn2	A	G	16: 30,078,115 (GRCm39)	S529P	probably damaging	Het
Csmd3	T	C	15: 47,604,590 (GRCm39)	N1051S	probably damaging	Het
Csmd3	G	A	15: 48,536,815 (GRCm39)	T129M	probably damaging	Het
F12	T	C	13: 55,568,198 (GRCm39)	H432R	probably damaging	Het
Foxm1	T	C	6: 128,350,439 (GRCm39)	F595S	probably damaging	Het
Foxred2	A	T	15: 77,832,677 (GRCm39)	I410N	probably benign	Het
Fstl5	T	A	3: 76,337,154 (GRCm39)	F238I	possibly damaging	Het
Galnt3	A	G	2: 65,915,636 (GRCm39)	V575A	probably benign	Het
Gpr149	T	A	3: 62,502,572 (GRCm39)	Y428F	probably benign	Het
Gtf2ird1	A	T	5: 134,389,879 (GRCm39)	Y970*	probably null	Het
Hint2	G	C	4: 43,654,343 (GRCm39)	Q157E	probably damaging	Het
Ighe	T	C	12: 113,235,006 (GRCm39)	T385A		Het
Kcnc4	G	A	3: 107,355,396 (GRCm39)	R351C	probably damaging	Het
Kif7	A	G	7: 79,357,280 (GRCm39)	L642S	possibly damaging	Het
Lilra5	T	A	7: 4,241,663 (GRCm39)	V154D	probably damaging	Het
Morc2b	A	G	17: 33,354,742 (GRCm39)	L1010P	probably damaging	Het
Mphosph10	C	A	7: 64,027,087 (GRCm39)	K575N	probably damaging	Het
Mup7	C	A	4: 60,067,537 (GRCm39)	E193*	probably null	Het
Nbea	T	C	3: 55,998,415 (GRCm39)	T131A	probably damaging	Het
Nostrin	T	C	2: 69,006,060 (GRCm39)	I248T	probably damaging	Het
Nrxn3	A	T	12: 89,153,920 (GRCm39)	I296F	possibly damaging	Het
Odam	A	G	5: 88,037,322 (GRCm39)	E172G	probably damaging	Het
Optn	A	G	2: 5,031,923 (GRCm39)		probably null	Het
Or5ac16	G	C	16: 59,021,929 (GRCm39)	P287A	probably damaging	Het
Osbpl8	T	A	10: 111,112,336 (GRCm39)	Y484N	probably damaging	Het
Patj	A	G	4: 98,480,206 (GRCm39)	N1308D	probably damaging	Het
Pcdhb17	A	T	18: 37,618,801 (GRCm39)	E197V	probably benign	Het
Pcolce2	G	A	9: 95,563,625 (GRCm39)	D204N	possibly damaging	Het
Plxna4	T	G	6: 32,174,026 (GRCm39)	T1190P	probably benign	Het
Pramel22	A	T	4: 143,380,976 (GRCm39)	F349Y	probably damaging	Het
Pzp	T	C	6: 128,500,950 (GRCm39)	Y136C	probably damaging	Het
Scn10a	A	T	9: 119,446,791 (GRCm39)	N1411K	probably damaging	Het
Scube1	A	G	15: 83,561,164 (GRCm39)	C143R	probably damaging	Het
Stau1	T	C	2: 166,793,266 (GRCm39)	T290A	probably benign	Het
Sycp1	T	A	3: 102,772,421 (GRCm39)	K629I	probably damaging	Het
Taf1d	A	G	9: 15,221,324 (GRCm39)	E210G	probably damaging	Het
Tecpr1	T	C	5: 144,153,117 (GRCm39)	E204G	possibly damaging	Het
Tmem229a	T	C	6: 24,955,187 (GRCm39)	D189G	probably benign	Het
Tmem269	G	A	4: 119,062,876 (GRCm39)	P254S	probably damaging	Het
Top1	T	A	2: 160,563,469 (GRCm39)	F767I	probably damaging	Het
Ube2q2	C	A	9: 55,102,757 (GRCm39)	A331D		Het
Usp1	A	G	4: 98,823,017 (GRCm39)	Y777C	probably damaging	Het
Usp29	A	G	7: 6,964,891 (GRCm39)	N245D	probably benign	Het
Vmn1r212	T	A	13: 23,067,526 (GRCm39)	Q269L	probably benign	Het
Wfdc11	T	A	2: 164,507,373 (GRCm39)	Y28F	probably benign	Het
Wwp2	A	T	8: 108,210,048 (GRCm39)	D142V	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
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'- ATGGGCATATGATGATCTCAGC -3'
(R):5'- TCCACAAAGCTTCTTACTGGCAC -3'

Sequencing Primer
(F):5'- GGCTGTGAACCCTTAAAGCC -3'
(R):5'- GCTTCTTACTGGCACATTTTAAAAC -3'

Posted On

2021-07-15