Mutagenetix > Incidental Mutation

Incidental Mutation 'R6662:Rassf9'

528029

Institutional Source

Beutler Lab

Gene Symbol

Rassf9

Ensembl Gene

ENSMUSG00000044921

Gene Name

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

Synonyms

Pamci

MMRRC Submission

044782-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R6662 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102348083-102385597 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102381899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 425 (L425Q)

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: L425Q

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000054767
Gene: ENSMUSG00000044921
AA Change: L425Q

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: L427Q

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (46/46)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	G	19: 57,062,285 (GRCm39)		probably null	Het
Acox1	A	G	11: 116,066,149 (GRCm39)	Y418H	probably damaging	Het
Akr1b1	C	T	6: 34,286,939 (GRCm39)	V206M	possibly damaging	Het
Aldh3a1	G	A	11: 61,105,481 (GRCm39)	V196I	probably benign	Het
Aox3	A	G	1: 58,157,774 (GRCm39)	K44E	probably damaging	Het
Bad	T	A	19: 6,928,438 (GRCm39)		probably benign	Het
BC034090	G	T	1: 155,102,085 (GRCm39)	Q60K	possibly damaging	Het
Casp6	A	G	3: 129,705,875 (GRCm39)	T181A	probably benign	Het
Catsperg2	G	A	7: 29,418,938 (GRCm39)		probably benign	Het
Ccdc14	T	C	16: 34,511,164 (GRCm39)	L46P	probably damaging	Het
Ces1b	A	G	8: 93,790,697 (GRCm39)	L364S	probably benign	Het
Cfap45	T	C	1: 172,357,417 (GRCm39)	I15T	probably benign	Het
Dph5	G	A	3: 115,722,205 (GRCm39)	E228K	probably benign	Het
Fat4	G	T	3: 39,010,970 (GRCm39)	L2023F	possibly damaging	Het
Garem1	T	C	18: 21,281,304 (GRCm39)	N351D	probably benign	Het
Grm2	C	T	9: 106,525,252 (GRCm39)	A488T	probably benign	Het
Ifit3b	A	G	19: 34,589,337 (GRCm39)	E171G	probably damaging	Het
Il1rn	A	T	2: 24,226,887 (GRCm39)		probably null	Het
Itih5	A	T	2: 10,253,992 (GRCm39)	I748F	probably benign	Het
Kcnh5	C	A	12: 75,054,385 (GRCm39)	D520Y	probably damaging	Het
Mgat5	C	A	1: 127,396,974 (GRCm39)	H574N	probably damaging	Het
Moxd1	A	C	10: 24,160,658 (GRCm39)	D437A	probably damaging	Het
Mybpc2	A	G	7: 44,155,590 (GRCm39)	F888L	probably benign	Het
Ncs1	T	A	2: 31,177,372 (GRCm39)	L183Q	probably damaging	Het
Neto2	A	T	8: 86,389,844 (GRCm39)	D206E	probably damaging	Het
Omp	A	G	7: 97,794,546 (GRCm39)	L27P	probably damaging	Het
Oxsm	A	G	14: 16,242,287 (GRCm38)	S161P	probably benign	Het
Pate6	C	A	9: 35,701,296 (GRCm39)	R6M	possibly damaging	Het
Pde4b	A	G	4: 102,459,095 (GRCm39)	I381M	possibly damaging	Het
Pramel5	A	T	4: 143,999,675 (GRCm39)	N137K	probably benign	Het
Prss33	T	C	17: 24,052,934 (GRCm39)	S247G	probably damaging	Het
Setx	A	T	2: 29,048,126 (GRCm39)	D1909V	probably damaging	Het
Slc26a3	A	T	12: 31,507,345 (GRCm39)	K402*	probably null	Het
Slco1a6	G	A	6: 142,078,941 (GRCm39)	T118I	probably damaging	Het
Syne1	A	G	10: 5,078,416 (GRCm39)	L6769P	probably damaging	Het
Tas2r107	A	T	6: 131,636,452 (GRCm39)	V199D	possibly damaging	Het
Tchp	A	G	5: 114,858,076 (GRCm39)		probably null	Het
Trdn	A	T	10: 33,350,483 (GRCm39)	N684I	probably damaging	Het
Trio	G	T	15: 27,855,082 (GRCm39)	T700K	probably benign	Het
Ttn	C	T	2: 76,586,242 (GRCm39)	V20084I	probably benign	Het
Ubl3	A	T	5: 148,446,116 (GRCm39)	Y62*	probably null	Het
Uckl1	A	G	2: 181,215,053 (GRCm39)	Y267H	possibly damaging	Het
Zfp1005	G	A	2: 150,108,172 (GRCm39)		probably null	Het
Zfp786	T	C	6: 47,803,920 (GRCm39)	N41D	probably damaging	Het
Zfp983	T	C	17: 21,881,001 (GRCm39)	S310P	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
IGL02396:Rassf9	APN	10	102,381,554 (GRCm39)	missense	possibly damaging	0.74
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
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

Predicted Primers

PCR Primer
(F):5'- TAGCCAAGGAGTTCAGCTCAC -3'
(R):5'- CGCTTGAACCTATCATAAAGTTGG -3'

Sequencing Primer
(F):5'- GGAGTTCAGCTCACTTCACATTAG -3'
(R):5'- GGTGGCCACTAGTTTTTATTAA -3'

Posted On

2018-07-24