Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03376:Rassf9'

420490

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rassf9

Ensembl Gene

ENSMUSG00000044921

Gene Name

Ras association (RalGDS/AF-6) domain family (N-terminal) member 9

Synonyms

Pamci

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

IGL03376

Quality Score

Status

Chromosome

Chromosomal Location

102512222-102549736 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102545198 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 145 (N145S)

Ref Sequence

ENSEMBL: ENSMUSP00000054767 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055355] [ENSMUST00000219445]

Predicted Effect

probably damaging
Transcript: ENSMUST00000055355
AA Change: N145S

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000054767
Gene: ENSMUSG00000044921
AA Change: N145S

Domain	Start	End	E-Value	Type
RA	23	119	5.33e-18	SMART
coiled coil region	261	291	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219445
AA Change: N147S

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene localizes to perinuclear endosomes. This protein associates with peptidylglycine alpha-amidating monooxygenase, and may be involved with the trafficking of this enzyme through secretory or endosomal pathways. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit premature lethality, alopecia, lung defects, and abnormal skin morphology and physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6v1b2	T	C	8: 69,102,159		probably benign	Het
Ccdc122	A	G	14: 77,068,912	E41G	probably damaging	Het
Cdh3	C	T	8: 106,541,404	T357I	probably benign	Het
Cfap57	T	A	4: 118,584,720	Q717L	probably damaging	Het
Cfap58	A	T	19: 48,034,725	T859S	possibly damaging	Het
Cmtr1	C	T	17: 29,691,411	R497C	probably benign	Het
Csmd2	T	C	4: 128,517,671	I2494T	probably benign	Het
Dmkn	C	T	7: 30,771,242	T385I	possibly damaging	Het
Eml3	A	G	19: 8,933,790	D260G	probably damaging	Het
Gbf1	T	C	19: 46,262,521	F493L	possibly damaging	Het
Gjb5	C	T	4: 127,356,255	R32H	probably damaging	Het
Hpx	C	T	7: 105,592,251		probably benign	Het
Ikzf3	T	A	11: 98,488,953	H163L	probably damaging	Het
Irak3	G	A	10: 120,146,636		probably benign	Het
Itih5	G	A	2: 10,206,773	V275I	probably benign	Het
Klc1	G	T	12: 111,775,953	E174D	probably damaging	Het
Ly6g6e	A	G	17: 35,078,232	*108W	probably null	Het
Mcph1	T	C	8: 18,596,973	S31P	probably damaging	Het
Mettl4	A	T	17: 94,735,371	S346T	probably damaging	Het
Myo3a	A	T	2: 22,600,074		probably benign	Het
Olfr703	T	A	7: 106,845,470	N286K	probably damaging	Het
Otol1	A	G	3: 70,027,512	E279G	probably damaging	Het
Pappa	T	A	4: 65,196,834	N722K	probably benign	Het
Pramel7	A	G	2: 87,489,603	S449P	probably damaging	Het
Robo2	T	C	16: 73,956,492	I158M	probably damaging	Het
Sbf1	A	G	15: 89,289,016		probably benign	Het
Slc30a8	C	T	15: 52,306,457	R27*	probably null	Het
Tmco2	T	A	4: 121,109,052	T36S	probably benign	Het
Tns4	T	C	11: 99,078,556	S360G	probably benign	Het
Vwa8	A	G	14: 79,183,134		probably null	Het
Wwc1	C	T	11: 35,852,294	R900Q	possibly damaging	Het
Zzef1	T	C	11: 72,876,551		probably benign	Het

Other mutations in Rassf9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01773:Rassf9	APN	10	102545633	missense	probably benign	0.04
IGL02396:Rassf9	APN	10	102545693	missense	possibly damaging	0.74
IGL02714:Rassf9	APN	10	102512563	missense	possibly damaging	0.85
IGL02987:Rassf9	APN	10	102545248	missense	possibly damaging	0.60
R0372:Rassf9	UTSW	10	102546011	missense	possibly damaging	0.71
R0377:Rassf9	UTSW	10	102545649	missense	probably benign	0.00
R1260:Rassf9	UTSW	10	102512585	critical splice donor site	probably null
R1481:Rassf9	UTSW	10	102546034	missense	probably benign	0.01
R1563:Rassf9	UTSW	10	102544960	missense	probably damaging	0.97
R1894:Rassf9	UTSW	10	102544894	missense	possibly damaging	0.92
R1913:Rassf9	UTSW	10	102544939	missense	probably benign	0.04
R2115:Rassf9	UTSW	10	102544945	missense	probably benign	0.02
R3149:Rassf9	UTSW	10	102544826	missense	possibly damaging	0.85
R5072:Rassf9	UTSW	10	102545905	missense	probably damaging	0.98
R5282:Rassf9	UTSW	10	102545344	missense	probably damaging	1.00
R5804:Rassf9	UTSW	10	102545044	missense	probably damaging	1.00
R6296:Rassf9	UTSW	10	102545753	missense	probably damaging	1.00
R6662:Rassf9	UTSW	10	102546038	missense	possibly damaging	0.90
R7719:Rassf9	UTSW	10	102545600	missense	probably benign	0.00

Posted On

2016-08-02