Mutagenetix > Incidental Mutation

Incidental Mutation 'R7190:Rassf6'

559541

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

045273-MU

Accession Numbers

Essential gene?

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

Stock #

R7190 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90603076-90640657 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90606807 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 204 (E204G)

Ref Sequence

ENSEMBL: ENSMUSP00000144337 (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: E217G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000031317
Gene: ENSMUSG00000029370
AA Change: E217G

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: E217G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000144532
Gene: ENSMUSG00000029370
AA Change: E217G

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: ENSMUST00000202784
AA Change: E204G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000144337
Gene: ENSMUSG00000029370
AA Change: E204G

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

Meta Mutation Damage Score

0.5970

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (50/50)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add3	C	T	19: 53,216,899	R27*	probably null	Het
Armc3	T	A	2: 19,293,136	Y573N	probably damaging	Het
BC024978	G	A	7: 27,201,123	A176T	probably damaging	Het
Bod1l	A	C	5: 41,819,938	N1344K	probably benign	Het
Camta1	T	G	4: 151,148,523	N231T	possibly damaging	Het
Capza2	T	A	6: 17,654,121	Y57*	probably null	Het
Ccdc186	T	A	19: 56,792,000	I871F	probably damaging	Het
Cntnap5b	A	G	1: 100,431,849		probably null	Het
Dnah2	G	T	11: 69,549,097		probably null	Het
Fhod3	T	C	18: 25,090,755	F1053L	probably damaging	Het
Foxj1	A	G	11: 116,332,375	Y201H	possibly damaging	Het
Gatad2b	T	A	3: 90,350,415	I210N	probably benign	Het
Gba	T	A	3: 89,204,362	I112N	probably damaging	Het
Gbp2	T	C	3: 142,633,447	V420A	probably benign	Het
Gm3106	T	G	5: 94,218,237	N71K	probably benign	Het
Gm8251	A	C	1: 44,061,615	S108A	probably benign	Het
Golga3	T	A	5: 110,209,855	H1072Q	probably damaging	Het
Gpr150	C	T	13: 76,055,873	A318T	probably benign	Het
Gpr6	T	C	10: 41,070,960	N209D	probably damaging	Het
Grin2b	T	C	6: 135,732,948	N1200S	possibly damaging	Het
Ifi207	G	A	1: 173,730,252	H307Y	unknown	Het
Il20ra	A	T	10: 19,742,941	I46F	probably damaging	Het
Lvrn	A	G	18: 46,900,503	D927G	probably benign	Het
Nlrc4	G	T	17: 74,445,203	D728E	probably damaging	Het
Nup107	T	C	10: 117,762,135	D630G	probably benign	Het
Olfr378	A	T	11: 73,425,164	I273N	probably benign	Het
Olfr787	T	C	10: 129,462,757	I27T	probably benign	Het
Pclo	C	A	5: 14,679,729	A2867D	unknown	Het
Perm1	A	G	4: 156,219,815	T754A	possibly damaging	Het
Plpbp	G	T	8: 27,051,297	V162L	probably benign	Het
Plscr4	A	T	9: 92,488,641	E220D	probably benign	Het
Ppp2r3a	A	T	9: 101,212,527	M199K	probably benign	Het
Reln	A	C	5: 22,047,947	D667E	probably damaging	Het
Rere	A	G	4: 150,610,953	I462V	unknown	Het
Rpain	A	G	11: 70,971,909	E76G	possibly damaging	Het
Strc	T	G	2: 121,369,026	I1311L	probably benign	Het
Svil	A	G	18: 5,092,937	M1385V	probably benign	Het
Syne2	T	A	12: 76,066,587	D1083E	probably benign	Het
Szt2	T	A	4: 118,389,006	H986L	probably damaging	Het
Tcl1b2	G	T	12: 105,147,234		probably null	Het
Thy1	T	A	9: 44,046,925	S117T	possibly damaging	Het
Tmem183a	A	T	1: 134,354,758	I203N	probably damaging	Het
Tmprss11g	T	C	5: 86,496,632	I118V	probably benign	Het
Tsen34	T	C	7: 3,694,807	V69A	possibly damaging	Het
Ttn	T	C	2: 76,886,799	Q7506R	unknown	Het
Vmn1r184	T	C	7: 26,267,680	S284P	probably damaging	Het
Wdr19	A	G	5: 65,240,862	D810G	probably benign	Het
Zer1	T	C	2: 30,103,432	D554G	probably damaging	Het
Zfp626	A	T	7: 27,818,343	T250S	probably benign	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
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'- GCATGACATCTTCCCAGCTC -3'
(R):5'- AGGAGTTGCATCATCACTTCTTAG -3'

Sequencing Primer
(F):5'- TGGGCTACAGCTACCCCAAG -3'
(R):5'- ACTTCTTAGAATTACATCCCCCAC -3'

Posted On

2019-06-26