Mutagenetix > Incidental Mutation

Incidental Mutation 'R6746:Rassf6'

532824

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

044863-MU

Accession Numbers

Essential gene?

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

Stock #

R6746 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90603076-90640657 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 90609774 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 109 (R109L)

Ref Sequence

ENSEMBL: ENSMUSP00000144337 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031317
AA Change: R109L

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000031317
Gene: ENSMUSG00000029370
AA Change: R109L

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: ENSMUST00000202704
AA Change: R109L

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000144532
Gene: ENSMUSG00000029370
AA Change: R109L

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: R109L

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144337
Gene: ENSMUSG00000029370
AA Change: R109L

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

unknown
Transcript: ENSMUST00000202807
AA Change: R9L

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

100% (58/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,346,221	L79*	probably null	Het
Acot3	A	G	12: 84,053,474	N8S	probably benign	Het
Adora2a	T	C	10: 75,333,608	V302A	probably benign	Het
Anpep	A	C	7: 79,839,185		probably null	Het
Arrb1	A	G	7: 99,601,150	K392E	probably benign	Het
Atp8a1	A	T	5: 67,751,049	N444K	probably benign	Het
Brinp2	C	T	1: 158,266,590	G181R	probably benign	Het
Cacna1g	A	T	11: 94,409,427	C2184*	probably null	Het
Cacna1h	C	T	17: 25,381,550	A1606T	probably damaging	Het
Ccdc155	C	T	7: 45,200,311	V63I	probably benign	Het
Ccdc30	T	C	4: 119,356,718	T205A	probably benign	Het
Celsr1	A	G	15: 86,031,495	I759T	probably damaging	Het
Chaf1a	A	G	17: 56,063,404	D623G	possibly damaging	Het
Col6a3	G	T	1: 90,779,045	N2115K	unknown	Het
Dync1h1	A	T	12: 110,651,653	T3209S	probably damaging	Het
Erich6	T	C	3: 58,616,566	D629G	possibly damaging	Het
Fahd1	G	T	17: 24,849,941	A54E	probably damaging	Het
Flrt3	C	T	2: 140,660,025	R561Q	probably damaging	Het
Gm5415	A	T	1: 32,546,763	I22N	probably benign	Het
Grm6	A	T	11: 50,856,963	D334V	probably damaging	Het
Helb	A	T	10: 120,105,468	D438E	probably damaging	Het
Hmgcs1	T	C	13: 119,695,049		probably null	Het
Hnf4g	C	A	3: 3,657,110	Y441*	probably null	Het
Hrasls5	A	G	19: 7,613,330	D74G	probably benign	Het
Hspa13	A	T	16: 75,765,037	N91K	possibly damaging	Het
Ilvbl	T	C	10: 78,577,223	I193T	possibly damaging	Het
Itga7	T	C	10: 128,949,472	V848A	probably benign	Het
Lpin1	A	G	12: 16,565,528	M341T	probably benign	Het
Lypd5	G	T	7: 24,353,106		probably null	Het
Mrgprb1	A	C	7: 48,447,897	V89G	possibly damaging	Het
Nsun7	T	C	5: 66,283,737		probably null	Het
Oasl1	T	A	5: 114,937,183	V434E	probably damaging	Het
Olfr1008	T	C	2: 85,689,608	Y60H	probably damaging	Het
Olfr319	G	A	11: 58,702,543	V281I	probably benign	Het
Olfr837	A	G	9: 19,137,478	M162V	probably benign	Het
Otor	T	A	2: 143,080,035		probably null	Het
Pik3cg	G	A	12: 32,194,758	T899M	probably damaging	Het
Pld2	C	A	11: 70,541,107	L52M	probably damaging	Het
Pon3	A	T	6: 5,230,786	M247K	possibly damaging	Het
Ppfia2	C	A	10: 106,906,458	Y1037*	probably null	Het
Ppm1m	A	T	9: 106,198,152	C99*	probably null	Het
Prss44	A	T	9: 110,815,293	*145C	probably null	Het
Ptpro	T	A	6: 137,394,823	Y613N	probably damaging	Het
Ralgapb	T	G	2: 158,476,136	V866G	probably damaging	Het
Rbm4b	A	C	19: 4,762,003	T147P	probably benign	Het
Rpl7l1	T	C	17: 46,779,396	K104R	probably benign	Het
Ryr1	A	T	7: 29,117,404	I69N	possibly damaging	Het
Scd1	G	T	19: 44,406,488	F99L	probably benign	Het
Spint2	A	T	7: 29,259,423	S66T	probably benign	Het
Tarm1	T	A	7: 3,502,462	I2F	probably benign	Het
Tenm4	T	C	7: 96,892,860	V1860A	probably damaging	Het
Uhrf1bp1l	T	A	10: 89,787,158	N298K	probably benign	Het
Usp38	A	G	8: 81,014,291	I49T	possibly damaging	Het
Vars2	A	G	17: 35,660,402		probably null	Het
Vmn2r27	T	G	6: 124,200,593	H484P	possibly damaging	Het
Wdr35	T	A	12: 9,003,982		probably null	Het
Zfp937	A	T	2: 150,239,423	K458*	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
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
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'- GTACACTACCAGGCTTCTCG -3'
(R):5'- CGCTGCATTTCAGGATATAGCTG -3'

Sequencing Primer
(F):5'- TACCAGGCTTCTCGGCGAC -3'
(R):5'- TTTGCCCAAAAACATACAGGGTGTG -3'

Posted On

2018-08-29