Mutagenetix > Incidental Mutation

Incidental Mutation 'R8497:Rassf6'

658314

Institutional Source

Beutler Lab

Gene Symbol

Rassf6

Ensembl Gene

ENSMUSG00000029370

Gene Name

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

Synonyms

1600016B17Rik

MMRRC Submission

067939-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R8497 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90603076-90640657 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90631532 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 14 (V14A)

Ref Sequence

ENSEMBL: ENSMUSP00000144337 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031317] [ENSMUST00000201121] [ENSMUST00000201370] [ENSMUST00000202704] [ENSMUST00000202784]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031317
AA Change: V14A

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

SMART Domains

Protein: ENSMUSP00000031317
Gene: ENSMUSG00000029370
AA Change: V14A

Domain	Start	End	E-Value	Type
RA	188	278	2.67e-9	SMART
Pfam:Nore1-SARAH	290	329	1.1e-11	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000201121
AA Change: V14A

Predicted Effect

unknown
Transcript: ENSMUST00000201370
AA Change: V14A

SMART Domains

Protein: ENSMUSP00000144199
Gene: ENSMUSG00000029370
AA Change: V14A

Domain	Start	End	E-Value	Type
low complexity region	16	27	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202704
AA Change: V14A

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

SMART Domains

Protein: ENSMUSP00000144532
Gene: ENSMUSG00000029370
AA Change: V14A

Domain	Start	End	E-Value	Type
RA	188	278	2.67e-9	SMART
Pfam:Nore1-SARAH	290	329	1.1e-11	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202784
AA Change: V14A

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144337
Gene: ENSMUSG00000029370
AA Change: V14A

Domain	Start	End	E-Value	Type
low complexity region	126	135	N/A	INTRINSIC
RA	175	265	2.67e-9	SMART
Pfam:Nore1-SARAH	277	316	8.6e-12	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (51/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Ras-association domain family (RASSF). Members of this family form the core of a highly conserved tumor suppressor network, the Salvador-Warts-Hippo (SWH) pathway. The protein encoded by this gene is a Ras effector protein that induces apoptosis. A genomic region containing this gene has been linked to susceptibility to viral bronchiolitis. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	C	T	19: 31,945,850	H509Y	probably benign	Het
Afm	A	T	5: 90,551,343		probably null	Het
Apc	G	A	18: 34,313,030	C975Y	possibly damaging	Het
Ash1l	G	T	3: 89,007,644	M1860I	probably benign	Het
Bdkrb1	C	T	12: 105,604,204	Q10*	probably null	Het
Bphl	A	G	13: 34,037,723	K21E	possibly damaging	Het
Cadps2	T	C	6: 23,355,919	N837D	probably benign	Het
Cat	C	G	2: 103,456,876	A470P	probably damaging	Het
Ccdc129	A	T	6: 55,898,194	R376S	probably benign	Het
Cdc34	G	T	10: 79,685,011	D11Y	probably damaging	Het
Cep290	A	G	10: 100,551,458	E1936G	probably damaging	Het
Cnot6	A	T	11: 49,675,364	N501K	possibly damaging	Het
Cyth3	A	C	5: 143,692,573	D44A	probably benign	Het
Dchs1	C	T	7: 105,758,961	G1888D	probably damaging	Het
Fam160a2	G	T	7: 105,381,189	D820E	probably damaging	Het
Ffar1	T	G	7: 30,860,909	I188L	probably benign	Het
Gm10696	T	A	3: 94,175,812	I231F	possibly damaging	Het
Gpr17	A	G	18: 31,947,120	Y297H	probably damaging	Het
H2-M10.5	A	C	17: 36,773,837	E151A	probably damaging	Het
Hmcn1	C	T	1: 150,580,239	R5310K	probably benign	Het
Hmcn2	T	C	2: 31,423,345	L3522P	possibly damaging	Het
Hs2st1	T	G	3: 144,434,691	T290P	probably damaging	Het
Il5ra	G	A	6: 106,738,105	L231F	probably benign	Het
Itgav	T	A	2: 83,785,461	C529S	probably damaging	Het
Lrrcc1	A	G	3: 14,539,984	D138G	possibly damaging	Het
Mat1a	C	T	14: 41,121,894	R357W	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Mtss1l	T	C	8: 110,738,590	V492A	possibly damaging	Het
Nalcn	A	G	14: 123,515,359	V330A	probably damaging	Het
Neu3	A	T	7: 99,823,135		probably null	Het
Nfx1	A	G	4: 40,976,968	D214G	possibly damaging	Het
Olfr1306	T	A	2: 111,912,619	I104F	possibly damaging	Het
Olfr1390	G	A	11: 49,340,894	D121N	probably damaging	Het
Olfr1457	T	C	19: 13,095,343	T102A	probably benign	Het
Olfr237-ps1	T	C	6: 43,153,884	L193P	probably damaging	Het
Pcdhb14	A	T	18: 37,449,296	H485L	probably benign	Het
Pdss2	A	C	10: 43,413,525	K342T	possibly damaging	Het
Ppargc1a	A	G	5: 51,490,228	S254P	probably damaging	Het
Prelid1	A	G	13: 55,323,020	D87G	probably damaging	Het
Prkg1	C	A	19: 31,302,309	C190F	probably damaging	Het
Psmb5	A	G	14: 54,614,380	S116P	possibly damaging	Het
Ripk1	T	C	13: 34,027,951	S415P	probably damaging	Het
Rnft1	A	T	11: 86,495,306	K344*	probably null	Het
Sacs	G	A	14: 61,192,253	R587Q	probably benign	Het
Skp2	A	T	15: 9,127,884		probably null	Het
Spata31d1a	T	C	13: 59,701,174	K1047E	possibly damaging	Het
Szt2	G	A	4: 118,388,321	T1098I	possibly damaging	Het
Tcf20	A	G	15: 82,855,951	M433T	probably benign	Het
Tsen54	T	C	11: 115,822,584	F438L	probably damaging	Het
Utp23	C	T	15: 51,882,218	T144I	probably damaging	Het
Vmn2r105	T	C	17: 20,234,872	M1V	probably null	Het
Wdfy4	C	T	14: 32,966,399	V2926M	probably damaging	Het
Zfp407	T	C	18: 84,559,896	K1031E	probably damaging	Het

Other mutations in Rassf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Rassf6	APN	5	90604140	missense	probably damaging	1.00
IGL00819:Rassf6	APN	5	90604071	missense	probably benign	0.03
IGL01139:Rassf6	APN	5	90608966	makesense	probably null
IGL03114:Rassf6	APN	5	90608790	splice site	probably benign
R1956:Rassf6	UTSW	5	90615871	nonsense	probably null
R2167:Rassf6	UTSW	5	90603938	missense	probably damaging	1.00
R2351:Rassf6	UTSW	5	90631559	missense	probably benign	0.05
R2877:Rassf6	UTSW	5	90606805	missense	probably damaging	1.00
R3943:Rassf6	UTSW	5	90604326	missense	possibly damaging	0.49
R3944:Rassf6	UTSW	5	90604326	missense	possibly damaging	0.49
R4131:Rassf6	UTSW	5	90609787	missense	probably damaging	1.00
R5134:Rassf6	UTSW	5	90604366	critical splice acceptor site	probably null
R5153:Rassf6	UTSW	5	90606840	missense	possibly damaging	0.81
R5633:Rassf6	UTSW	5	90604118	missense	possibly damaging	0.84
R5994:Rassf6	UTSW	5	90617768	missense	probably damaging	1.00
R6000:Rassf6	UTSW	5	90603877	missense	probably damaging	1.00
R6746:Rassf6	UTSW	5	90609774	missense	possibly damaging	0.80
R7038:Rassf6	UTSW	5	90609725	missense	probably benign	0.13
R7190:Rassf6	UTSW	5	90606807	missense	probably damaging	1.00
R7549:Rassf6	UTSW	5	90606802	missense	probably damaging	1.00
R9472:Rassf6	UTSW	5	90617713	nonsense	probably null
RF002:Rassf6	UTSW	5	90608921	utr 3 prime	probably benign
RF002:Rassf6	UTSW	5	90608925	nonsense	probably null
RF004:Rassf6	UTSW	5	90608919	utr 3 prime	probably benign
RF011:Rassf6	UTSW	5	90608921	utr 3 prime	probably benign
RF013:Rassf6	UTSW	5	90608941	utr 3 prime	probably benign
RF018:Rassf6	UTSW	5	90608929	utr 3 prime	probably benign
RF032:Rassf6	UTSW	5	90608939	utr 3 prime	probably benign
RF034:Rassf6	UTSW	5	90608912	utr 3 prime	probably benign
RF034:Rassf6	UTSW	5	90608917	utr 3 prime	probably benign
RF034:Rassf6	UTSW	5	90608923	utr 3 prime	probably benign
RF035:Rassf6	UTSW	5	90608908	utr 3 prime	probably benign
RF036:Rassf6	UTSW	5	90608915	utr 3 prime	probably benign
RF038:Rassf6	UTSW	5	90608924	utr 3 prime	probably benign
RF038:Rassf6	UTSW	5	90608930	utr 3 prime	probably benign
RF039:Rassf6	UTSW	5	90608915	utr 3 prime	probably benign
RF039:Rassf6	UTSW	5	90608939	utr 3 prime	probably benign
RF043:Rassf6	UTSW	5	90608932	utr 3 prime	probably benign
RF043:Rassf6	UTSW	5	90608939	utr 3 prime	probably benign
RF049:Rassf6	UTSW	5	90608913	utr 3 prime	probably benign
RF051:Rassf6	UTSW	5	90608929	utr 3 prime	probably benign
RF052:Rassf6	UTSW	5	90608916	utr 3 prime	probably benign
RF052:Rassf6	UTSW	5	90608923	utr 3 prime	probably benign
RF054:Rassf6	UTSW	5	90608911	utr 3 prime	probably benign
RF054:Rassf6	UTSW	5	90608924	utr 3 prime	probably benign
RF054:Rassf6	UTSW	5	90608931	utr 3 prime	probably benign
RF063:Rassf6	UTSW	5	90608942	nonsense	probably null
X0017:Rassf6	UTSW	5	90606789	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACAGCACTGATCTTGTTGG -3'
(R):5'- TTCCTCACACAGATGTAAAGCC -3'

Sequencing Primer
(F):5'- CACAGCACTGATCTTGTTGGTCATAG -3'
(R):5'- TCACACAGATGTAAAGCCTTCTC -3'

Posted On

2021-01-18