Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02133:9530068E07Rik'

281087

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

9530068E07Rik

Ensembl Gene

ENSMUSG00000036275

Gene Name

RIKEN cDNA 9530068E07 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

IGL02133

Quality Score

Status

Chromosome

Chromosomal Location

52287255-52299550 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 52294337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 193 (A193S)

Ref Sequence

ENSEMBL: ENSMUSP00000104685 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036952] [ENSMUST00000109057]

AlphaFold

Q8K201

Predicted Effect

probably damaging
Transcript: ENSMUST00000036952
AA Change: A201S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000048441
Gene: ENSMUSG00000036275
AA Change: A201S

Domain	Start	End	E-Value	Type
signal peptide	1	44	N/A	INTRINSIC
low complexity region	82	116	N/A	INTRINSIC
transmembrane domain	192	211	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109057
AA Change: A193S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104685
Gene: ENSMUSG00000036275
AA Change: A193S

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
low complexity region	74	108	N/A	INTRINSIC
transmembrane domain	184	203	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122004

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136303

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153855

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	G	12: 81,466,803 (GRCm39)	V606A	probably benign	Het
Atp2c2	A	G	8: 120,481,074 (GRCm39)	I821V	probably benign	Het
Bmi1	A	T	2: 18,688,488 (GRCm39)	R160W	probably damaging	Het
Ccdc198	T	A	14: 49,470,424 (GRCm39)	Q165L	probably benign	Het
Ccdc88c	G	A	12: 100,906,349 (GRCm39)	R1062C	probably damaging	Het
Cntnap3	A	T	13: 64,899,487 (GRCm39)		probably benign	Het
Col20a1	C	T	2: 180,648,937 (GRCm39)	T940I	probably damaging	Het
Csmd3	A	C	15: 47,721,338 (GRCm39)	M1535R	possibly damaging	Het
Dhx38	C	A	8: 110,284,873 (GRCm39)	E487*	probably null	Het
Fam186b	A	G	15: 99,171,584 (GRCm39)	S888P	probably damaging	Het
Fancm	G	A	12: 65,153,249 (GRCm39)	G1235D	probably benign	Het
Grin3a	C	T	4: 49,792,946 (GRCm39)	W262*	probably null	Het
Gtdc1	A	T	2: 44,465,455 (GRCm39)	M305K	probably damaging	Het
H2-M9	T	C	17: 36,952,629 (GRCm39)	E139G	possibly damaging	Het
Haus1	A	T	18: 77,854,611 (GRCm39)	L53Q	probably damaging	Het
Hgfac	A	G	5: 35,203,931 (GRCm39)	Y483C	probably damaging	Het
Hipk2	C	T	6: 38,796,069 (GRCm39)	V67I	probably benign	Het
Kbtbd8	T	C	6: 95,098,713 (GRCm39)		probably benign	Het
Kndc1	A	G	7: 139,500,683 (GRCm39)	T683A	probably benign	Het
Ldhb	A	T	6: 142,438,226 (GRCm39)	M277K	probably benign	Het
Mgam	T	C	6: 40,620,010 (GRCm39)	L33P	probably damaging	Het
Ndst1	A	G	18: 60,832,618 (GRCm39)	F571L	probably benign	Het
Neb	G	T	2: 52,102,816 (GRCm39)		probably null	Het
Nrxn1	A	G	17: 90,950,671 (GRCm39)	S503P	probably damaging	Het
Paqr3	A	G	5: 97,243,790 (GRCm39)	V308A	probably benign	Het
Scnn1g	T	C	7: 121,342,922 (GRCm39)	F292L	probably damaging	Het
Stk3	A	G	15: 35,099,662 (GRCm39)	F88S	probably damaging	Het
Tcaf2	T	A	6: 42,604,330 (GRCm39)	E683V	probably benign	Het
Tprkb	T	C	6: 85,904,893 (GRCm39)	V123A	probably benign	Het
Ush2a	T	C	1: 188,175,540 (GRCm39)	Y1213H	probably damaging	Het
Vwa5b1	A	G	4: 138,313,868 (GRCm39)		probably null	Het
Wls	A	G	3: 159,603,007 (GRCm39)	Y140C	probably damaging	Het
Zan	A	G	5: 137,409,760 (GRCm39)	S28P	possibly damaging	Het

Other mutations in 9530068E07Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01408:9530068E07Rik	APN	11	52,294,193 (GRCm39)	missense	probably damaging	0.99
IGL02962:9530068E07Rik	APN	11	52,294,362 (GRCm39)	missense	possibly damaging	0.94
IGL03116:9530068E07Rik	APN	11	52,294,331 (GRCm39)	missense	probably benign	0.14
R1186:9530068E07Rik	UTSW	11	52,293,905 (GRCm39)	missense	probably benign	0.17
R7357:9530068E07Rik	UTSW	11	52,297,821 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16