Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02396:Rassf9'

294351

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

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

IGL02396

Quality Score

Status

Chromosome

Chromosomal Location

102348083-102385597 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102381554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 310 (N310I)

Ref Sequence

ENSEMBL: ENSMUSP00000054767 (fasta)

Gene Model

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

AlphaFold

Q8K342

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055355
AA Change: N310I

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000054767
Gene: ENSMUSG00000044921
AA Change: N310I

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: N312I

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	C	T	14: 54,882,256 (GRCm39)		probably benign	Het
Bhmt1b	A	G	18: 87,774,780 (GRCm39)	E101G	possibly damaging	Het
Bmp3	C	A	5: 99,020,578 (GRCm39)	Q334K	possibly damaging	Het
Bnc2	G	T	4: 84,194,246 (GRCm39)	S1026R	probably benign	Het
Bsn	C	T	9: 107,993,245 (GRCm39)	G836S	possibly damaging	Het
Cand2	A	G	6: 115,768,149 (GRCm39)		probably benign	Het
Ccdc24	T	C	4: 117,726,826 (GRCm39)	T296A	possibly damaging	Het
Ccdc38	A	G	10: 93,409,994 (GRCm39)	N271S	possibly damaging	Het
Ccdc81	T	G	7: 89,530,857 (GRCm39)	I362L	probably benign	Het
Cdhr3	T	A	12: 33,095,195 (GRCm39)	I625F	possibly damaging	Het
Col12a1	T	A	9: 79,569,865 (GRCm39)	R1568S	probably benign	Het
Cpeb4	T	A	11: 31,875,441 (GRCm39)	S547T	probably benign	Het
Dennd4c	T	A	4: 86,743,237 (GRCm39)	N1075K	probably damaging	Het
Esrra	C	A	19: 6,889,373 (GRCm39)	V339L	probably benign	Het
Ghr	A	T	15: 3,487,480 (GRCm39)	M1K	probably null	Het
Gm4987	T	A	X: 45,544,991 (GRCm39)		noncoding transcript	Het
Golga2	G	T	2: 32,188,656 (GRCm39)		probably benign	Het
Gys1	T	A	7: 45,089,012 (GRCm39)	I137N	probably damaging	Het
Hs3st5	A	T	10: 36,704,699 (GRCm39)	M1L	probably benign	Het
Hsd3b5	T	A	3: 98,529,343 (GRCm39)	T96S	probably benign	Het
Ighv6-3	T	C	12: 114,355,356 (GRCm39)	D111G	probably damaging	Het
Immp1l	T	A	2: 105,767,351 (GRCm39)	I70N	probably damaging	Het
Ints4	G	A	7: 97,187,107 (GRCm39)	V866I	possibly damaging	Het
Large2	G	T	2: 92,196,668 (GRCm39)	Y529*	probably null	Het
Maf1	C	A	15: 76,237,457 (GRCm39)	Y166*	probably null	Het
Manba	T	A	3: 135,250,525 (GRCm39)	M384K	probably damaging	Het
Mapk4	C	A	18: 74,067,068 (GRCm39)		probably null	Het
Mc5r	T	C	18: 68,472,537 (GRCm39)	S299P	possibly damaging	Het
Mdn1	T	A	4: 32,700,120 (GRCm39)	N1404K	probably damaging	Het
Milr1	C	A	11: 106,656,065 (GRCm39)	Y212*	probably null	Het
Ncor2	A	G	5: 125,114,978 (GRCm39)	S1115P	probably damaging	Het
Or10ag57	A	T	2: 87,218,049 (GRCm39)		probably benign	Het
Or4f61	C	A	2: 111,922,812 (GRCm39)	C78F	probably benign	Het
Osbpl7	T	G	11: 96,946,377 (GRCm39)	L158R	probably damaging	Het
Psmd4	A	T	3: 94,943,221 (GRCm39)	L61Q	probably damaging	Het
Rpl21-ps6	A	G	17: 56,222,400 (GRCm39)		noncoding transcript	Het
Slc31a2	T	C	4: 62,215,310 (GRCm39)	I119T	probably damaging	Het
Srgap2	C	A	1: 131,220,413 (GRCm39)	C187F	probably damaging	Het
Tekt5	C	A	16: 10,196,931 (GRCm39)	A307S	probably benign	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Ttn	A	G	2: 76,775,432 (GRCm39)	V1916A	unknown	Het
Wee1	T	G	7: 109,741,300 (GRCm39)	V641G	probably damaging	Het
Zfand6	G	A	7: 84,267,111 (GRCm39)	P157L	probably damaging	Het

Other mutations in Rassf9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01773:Rassf9	APN	10	102,381,494 (GRCm39)	missense	probably benign	0.04
IGL02714:Rassf9	APN	10	102,348,424 (GRCm39)	missense	possibly damaging	0.85
IGL02987:Rassf9	APN	10	102,381,109 (GRCm39)	missense	possibly damaging	0.60
IGL03376:Rassf9	APN	10	102,381,059 (GRCm39)	missense	probably damaging	0.96
R0372:Rassf9	UTSW	10	102,381,872 (GRCm39)	missense	possibly damaging	0.71
R0377:Rassf9	UTSW	10	102,381,510 (GRCm39)	missense	probably benign	0.00
R1260:Rassf9	UTSW	10	102,348,446 (GRCm39)	critical splice donor site	probably null
R1481:Rassf9	UTSW	10	102,381,895 (GRCm39)	missense	probably benign	0.01
R1563:Rassf9	UTSW	10	102,380,821 (GRCm39)	missense	probably damaging	0.97
R1894:Rassf9	UTSW	10	102,380,755 (GRCm39)	missense	possibly damaging	0.92
R1913:Rassf9	UTSW	10	102,380,800 (GRCm39)	missense	probably benign	0.04
R2115:Rassf9	UTSW	10	102,380,806 (GRCm39)	missense	probably benign	0.02
R3149:Rassf9	UTSW	10	102,380,687 (GRCm39)	missense	possibly damaging	0.85
R5072:Rassf9	UTSW	10	102,381,766 (GRCm39)	missense	probably damaging	0.98
R5282:Rassf9	UTSW	10	102,381,205 (GRCm39)	missense	probably damaging	1.00
R5804:Rassf9	UTSW	10	102,380,905 (GRCm39)	missense	probably damaging	1.00
R6296:Rassf9	UTSW	10	102,381,614 (GRCm39)	missense	probably damaging	1.00
R6662:Rassf9	UTSW	10	102,381,899 (GRCm39)	missense	possibly damaging	0.90
R7719:Rassf9	UTSW	10	102,381,461 (GRCm39)	missense	probably benign	0.00
R8944:Rassf9	UTSW	10	102,381,329 (GRCm39)	missense	probably benign	0.00
R9401:Rassf9	UTSW	10	102,348,369 (GRCm39)	start gained	probably benign
R9424:Rassf9	UTSW	10	102,381,577 (GRCm39)	missense	probably benign	0.00
R9720:Rassf9	UTSW	10	102,348,369 (GRCm39)	start gained	probably benign

Posted On

2015-04-16