Mutagenetix > Incidental Mutation

Incidental Mutation 'R6000:Rassf6'

480768

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

044179-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R6000 (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 90603877 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 341 (V341A)

Ref Sequence

ENSEMBL: ENSMUSP00000144532 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000031317
AA Change: V341A

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

SMART Domains

Protein: ENSMUSP00000031317
Gene: ENSMUSG00000029370
AA Change: V341A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000202704
AA Change: V341A

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

SMART Domains

Protein: ENSMUSP00000144532
Gene: ENSMUSG00000029370
AA Change: V341A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000202784
AA Change: V328A

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144337
Gene: ENSMUSG00000029370
AA Change: V328A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000202807

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.7%

Validation Efficiency

100% (64/64)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	T	C	16: 88,759,539	C214R	possibly damaging	Het
5430403G16Rik	A	G	5: 109,676,864	V240A	probably benign	Het
Ahnak	A	T	19: 9,013,111	K3920*	probably null	Het
Alox12b	A	G	11: 69,169,568	D650G	probably damaging	Het
Amt	A	T	9: 108,301,485	Y400F	probably benign	Het
Ankrd11	A	G	8: 122,891,195	S1973P	possibly damaging	Het
Aoc1	A	T	6: 48,907,639	T539S	probably benign	Het
Arhgap44	CTGCT	CTGCTTGCT	11: 65,032,084		probably null	Het
Ccdc15	C	T	9: 37,315,764	G292S	probably benign	Het
Ccdc162	C	T	10: 41,561,163	C287Y	possibly damaging	Het
Cdk15	G	A	1: 59,289,659	G244D	probably damaging	Het
Cep290	T	A	10: 100,541,787	Y1560N	probably damaging	Het
Cic	A	C	7: 25,271,998	I385L	probably benign	Het
Cobl	A	T	11: 12,369,684	F231L	probably benign	Het
Cpeb1	T	C	7: 81,361,680	D171G	possibly damaging	Het
Csnk1g2	T	A	10: 80,638,944	V305E	probably damaging	Het
Cyp2c29	A	G	19: 39,307,606		probably null	Het
Dner	A	T	1: 84,383,929	M653K	possibly damaging	Het
Dst	T	A	1: 34,212,223	M4311K	possibly damaging	Het
Ep400	A	G	5: 110,683,201	S2200P	unknown	Het
Ephb2	A	T	4: 136,684,030	S440T	possibly damaging	Het
Ercc1	A	T	7: 19,347,161		probably benign	Het
Folh1	T	A	7: 86,725,934	N615Y	probably benign	Het
Gm35911	G	T	5: 99,941,367	A164S	probably benign	Het
Gm7298	T	C	6: 121,765,079	Y487H	possibly damaging	Het
Gucy1b2	A	T	14: 62,419,050	I286N	probably benign	Het
Hr	A	G	14: 70,567,833	D1005G	probably damaging	Het
Ifrd1	C	A	12: 40,216,244	V117F	possibly damaging	Het
Ift140	A	T	17: 25,036,960	T210S	probably benign	Het
Igll1	C	A	16: 16,863,941		probably benign	Het
Ino80	G	T	2: 119,374,508	S1512R	probably benign	Het
Intu	A	T	3: 40,654,148	K197*	probably null	Het
Kdm6b	A	G	11: 69,403,598	L1216P	unknown	Het
Klrb1c	T	G	6: 128,784,157	D169A	probably damaging	Het
Lamp3	T	A	16: 19,700,948	T162S	possibly damaging	Het
Mapk10	G	A	5: 102,966,475	P319L	probably damaging	Het
Mapk10	G	A	5: 102,966,476	P319S	probably damaging	Het
Mical3	T	C	6: 121,021,320	T702A	probably benign	Het
Mstn	C	T	1: 53,061,669		probably benign	Het
Nckap1l	T	C	15: 103,478,815	S706P	probably benign	Het
Nckap5l	G	A	15: 99,426,885	T579I	probably damaging	Het
Olfr1197	C	A	2: 88,729,231	A123S	probably damaging	Het
Olfr1341	A	T	4: 118,710,244	N279I	probably damaging	Het
Olfr285	G	A	15: 98,313,436	T38I	probably benign	Het
Pcdh18	A	C	3: 49,754,464	S801A	probably damaging	Het
Pde11a	A	T	2: 76,017,860	D874E	probably damaging	Het
Pfdn6	G	T	17: 33,939,615	P62T	probably damaging	Het
Pkd1l1	A	G	11: 8,950,427	I38T	probably benign	Het
Prkdc	A	T	16: 15,829,697	I3662F	possibly damaging	Het
Psg26	A	T	7: 18,482,692	L74*	probably null	Het
Rsad2	C	A	12: 26,447,151		probably null	Het
Rwdd3	A	G	3: 121,156,513	Y95H	probably damaging	Het
Scfd1	A	G	12: 51,445,674	I589V	possibly damaging	Het
Sgsm1	A	T	5: 113,286,838	I131N	probably damaging	Het
Tecpr1	A	G	5: 144,211,421	S389P	probably benign	Het
Tle3	T	A	9: 61,374,014	I29N	probably damaging	Het
Tmem63c	C	A	12: 87,057,197	N73K	probably damaging	Het
Tpm2	T	A	4: 43,518,301		probably null	Het
Trak2	A	T	1: 58,911,812	D405E	possibly damaging	Het
Ttn	C	A	2: 76,745,172	A23380S	probably damaging	Het
Ttn	A	T	2: 76,885,151		probably benign	Het
Tub	T	C	7: 109,029,650	S391P	probably damaging	Het
Ush2a	G	T	1: 188,267,026	E178*	probably null	Het
Wdr66	A	G	5: 123,254,372		probably benign	Het
Wisp3	T	C	10: 39,158,300	Y102C	probably damaging	Het
Ylpm1	C	A	12: 84,997,256	T256K	unknown	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
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
R8497:Rassf6	UTSW	5	90631532	missense	possibly damaging	0.83
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'- TCGAGGACATTTGGAATGGGC -3'
(R):5'- TTATGGCAAAGTGAGTCCAGAG -3'

Sequencing Primer
(F):5'- TGAAATGAAGTCCCATCTTGCC -3'
(R):5'- CAGAGTGGACCCCTGGATATTTC -3'

Posted On

2017-06-26