Mutagenetix > Incidental Mutation

Incidental Mutation 'R2351:Rassf6'

246118

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

040333-MU

Accession Numbers

Essential gene?

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

Stock #

R2351 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90603076-90640657 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90631559 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 5 (D5G)

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

probably benign
Transcript: ENSMUST00000031317
AA Change: D5G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000031317
Gene: ENSMUSG00000029370
AA Change: D5G

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: D5G

Predicted Effect

unknown
Transcript: ENSMUST00000201370
AA Change: D5G

SMART Domains

Protein: ENSMUSP00000144199
Gene: ENSMUSG00000029370
AA Change: D5G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000202704
AA Change: D5G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000144532
Gene: ENSMUSG00000029370
AA Change: D5G

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: D5G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000144337
Gene: ENSMUSG00000029370
AA Change: D5G

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.2%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	A	T	1: 138,852,108	Y135*	probably null	Het
2700081O15Rik	T	C	19: 7,422,244	I247T	probably damaging	Het
9430007A20Rik	A	T	4: 144,528,778	Y256F	probably damaging	Het
Acad10	A	T	5: 121,629,927	I820K	probably benign	Het
Arl8b	A	T	6: 108,821,523	I178F	possibly damaging	Het
Asap1	A	T	15: 64,135,804		probably null	Het
Atp2b2	A	T	6: 113,789,757	I552N	possibly damaging	Het
C130074G19Rik	G	T	1: 184,882,863	D43E	probably benign	Het
Ccdc162	C	A	10: 41,555,972		probably null	Het
Ccdc186	T	G	19: 56,798,697	K613T	possibly damaging	Het
Cggbp1	T	A	16: 64,855,683	D37E	possibly damaging	Het
Cntn3	A	T	6: 102,337,383	N123K	possibly damaging	Het
Col18a1	C	T	10: 77,112,704	G325S	probably benign	Het
Cwc25	G	T	11: 97,747,392	T405K	probably damaging	Het
Cyp4a31	T	C	4: 115,571,313	V370A	possibly damaging	Het
Cyp4f13	T	G	17: 32,925,596	I309L	probably benign	Het
Dap3	A	T	3: 88,933,563		probably null	Het
Dchs1	G	T	7: 105,754,094	D3080E	probably benign	Het
Ern2	A	G	7: 122,171,508	V762A	probably damaging	Het
Fgr	C	T	4: 132,997,237	R255C	probably damaging	Het
Gcm2	A	T	13: 41,103,618	D218E	probably benign	Het
Gfi1	A	G	5: 107,721,774	S131P	probably damaging	Het
Grm8	A	T	6: 28,126,119	C3S	possibly damaging	Het
Gucy2d	A	G	7: 98,464,019	D840G	probably benign	Het
H3f3a	T	C	1: 180,810,158	T81A	probably benign	Het
Igsf23	C	T	7: 19,944,798	W22*	probably null	Het
Il12rb2	G	A	6: 67,361,944	Q3*	probably null	Het
Ino80d	A	T	1: 63,085,835	L156H	probably benign	Het
Kdm2a	G	A	19: 4,329,126	P554S	probably benign	Het
Lefty1	T	A	1: 180,937,242	L244H	possibly damaging	Het
Mdn1	T	A	4: 32,750,010	S4398T	probably benign	Het
Myh10	A	G	11: 68,793,139	D1126G	probably damaging	Het
Myo16	G	A	8: 10,594,905	D1746N	possibly damaging	Het
Myom1	A	T	17: 71,034,579	D111V	probably damaging	Het
Naip6	T	A	13: 100,283,661	D1367V	probably damaging	Het
Nbeal1	A	T	1: 60,237,098	H666L	possibly damaging	Het
Nsmaf	T	A	4: 6,437,921	I77F	probably damaging	Het
Nvl	T	C	1: 181,130,792	T231A	probably benign	Het
Obscn	T	C	11: 59,112,612	R1287G	probably damaging	Het
Olfr1058	C	T	2: 86,386,127	C97Y	probably damaging	Het
Olfr1219	C	T	2: 89,074,399	G231S	possibly damaging	Het
Olfr1254	T	C	2: 89,789,178	Y58C	probably damaging	Het
Olfr2	A	T	7: 107,001,676	Y61*	probably null	Het
Olfr420	T	A	1: 174,158,920	V49D	probably damaging	Het
Olfr765	A	G	10: 129,046,928	V45A	probably benign	Het
Opn3	T	C	1: 175,692,511	D9G	probably benign	Het
Parp10	A	T	15: 76,242,856	S101R	probably benign	Het
Pdhx	T	A	2: 103,024,217	K399*	probably null	Het
Pdia4	A	T	6: 47,796,914		probably null	Het
Pla2g4f	T	C	2: 120,300,442	D844G	probably benign	Het
Prtg	C	A	9: 72,856,824	D526E	probably damaging	Het
Riok3	C	T	18: 12,149,667	Q388*	probably null	Het
Robo4	T	A	9: 37,411,660	F825L	probably benign	Het
Rpl13a-ps1	C	T	19: 50,030,429	E103K	probably benign	Het
Rpl18a	A	T	8: 70,896,220	H37Q	probably benign	Het
Ryr1	A	T	7: 29,075,293	S2301T	probably benign	Het
Slc39a9	T	A	12: 80,644,886	D2E	possibly damaging	Het
Slco5a1	C	T	1: 12,989,934	V188I	probably benign	Het
Son	T	A	16: 91,657,659	M1098K	probably damaging	Het
Spag9	A	G	11: 94,092,900	D701G	probably damaging	Het
Ssmem1	T	C	6: 30,512,496	F46S	possibly damaging	Het
Sspo	C	T	6: 48,464,869	R1938W	probably damaging	Het
Sstr3	T	C	15: 78,539,921	I209V	probably benign	Het
Tlk2	A	G	11: 105,209,830	Y87C	probably damaging	Het
Traf4	G	A	11: 78,160,176	R385W	probably damaging	Het
Triobp	G	A	15: 79,004,580	V1962M	probably benign	Het
Tspan12	T	G	6: 21,835,507	I56L	probably benign	Het
Upp2	T	A	2: 58,763,662		probably null	Het
Vps13b	T	C	15: 35,869,311	W2654R	probably damaging	Het
Zc3h18	C	T	8: 122,403,187	R435*	probably null	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
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
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'- AATGTCATAGCCTACCAGTGGC -3'
(R):5'- TCCAGCCACTTCTCGTTAGG -3'

Sequencing Primer
(F):5'- TCATAGCCTACCAGTGGCTAAGG -3'
(R):5'- TAGGTTGCTGCAGTATAACGAC -3'

Posted On

2014-10-30