Mutagenetix > Incidental Mutation

Incidental Mutation 'R9472:Rassf6'

715516

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

Accession Numbers

Essential gene?

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

Stock #

R9472 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90603076-90640657 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 90617713 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 46 (Y46*)

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 null
Transcript: ENSMUST00000031317
AA Change: Y46*

SMART Domains

Protein: ENSMUSP00000031317
Gene: ENSMUSG00000029370
AA Change: Y46*

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: ENSMUST00000201121

Predicted Effect

probably benign
Transcript: ENSMUST00000201370

SMART Domains

Protein: ENSMUSP00000144199
Gene: ENSMUSG00000029370

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

Predicted Effect

probably null
Transcript: ENSMUST00000202704
AA Change: Y46*

SMART Domains

Protein: ENSMUSP00000144532
Gene: ENSMUSG00000029370
AA Change: Y46*

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 null
Transcript: ENSMUST00000202784
AA Change: Y46*

SMART Domains

Protein: ENSMUSP00000144337
Gene: ENSMUSG00000029370
AA Change: Y46*

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: 99.6%
20x: 98.6%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	G	8: 24,637,232	K449N	probably benign	Het
Adam39	G	A	8: 40,826,314	V581I	possibly damaging	Het
Agrn	A	G	4: 156,170,384	F1625S		Het
Aox3	G	T	1: 58,176,510	V1034L	possibly damaging	Het
Baz2a	T	G	10: 128,112,755	S302A	probably benign	Het
Capn9	T	C	8: 124,598,795		probably null	Het
Ccdc153	A	T	9: 44,243,626	Q104L	possibly damaging	Het
Cdh1	A	T	8: 106,653,616	N168I	probably damaging	Het
Crisp3	A	T	17: 40,228,785		probably null	Het
Ctsb	T	C	14: 63,141,737	V266A	probably damaging	Het
Cyp2c39	G	T	19: 39,513,599	R144L	probably damaging	Het
Elmo1	C	T	13: 20,286,727	A263V	probably benign	Het
Enkur	T	C	2: 21,196,779	R32G	possibly damaging	Het
Fam126b	A	G	1: 58,535,482	V300A	possibly damaging	Het
Fsip2	T	A	2: 82,986,941	N4339K	possibly damaging	Het
Gsn	T	G	2: 35,292,729	M268R	probably damaging	Het
Herc2	T	A	7: 56,164,095	W2659R	probably damaging	Het
Ino80e	A	G	7: 126,861,955	V40A	unknown	Het
Ints2	T	C	11: 86,242,998	T409A		Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kat2a	A	G	11: 100,705,371	V787A	probably benign	Het
Klhl32	A	G	4: 24,629,273	V465A	probably benign	Het
Kmt2a	C	A	9: 44,822,156	R2288L	unknown	Het
Megf6	G	A	4: 154,249,453	G213S	probably damaging	Het
Mt2	T	A	8: 94,173,371	C44S	probably damaging	Het
Nfe2l1	A	G	11: 96,819,333	V690A	probably damaging	Het
Obscn	T	C	11: 59,003,669	H6670R		Het
Olfr1216	A	C	2: 89,013,173	I297S	possibly damaging	Het
Orc4	T	C	2: 48,905,551	T388A	probably benign	Het
Pcdhb17	C	A	18: 37,485,866	N236K	probably damaging	Het
Phlpp1	T	C	1: 106,380,349	S1119P	probably damaging	Het
Plppr3	T	C	10: 79,866,877	D184G	probably damaging	Het
Rmdn2	T	A	17: 79,681,667	I405N	possibly damaging	Het
Rsbn1l	A	C	5: 20,908,121	S468A	probably damaging	Het
Rslcan18	T	C	13: 67,112,232	K34E	probably benign	Het
Runx3	A	G	4: 135,171,130	D204G	probably damaging	Het
Sbf2	A	G	7: 110,371,591	I866T	possibly damaging	Het
Sgtb	A	C	13: 104,111,173	E28D	probably benign	Het
Slc38a8	T	A	8: 119,501,149	K14M	probably damaging	Het
Spast	T	C	17: 74,374,148	V478A	probably damaging	Het
Stxbp5	T	C	10: 9,843,357	T147A	probably damaging	Het
Tmem208	T	C	8: 105,328,395	F79S	probably damaging	Het
Tmprss7	T	C	16: 45,680,689	I250V	probably benign	Het
Usp24	A	G	4: 106,403,931	T1628A	probably benign	Het
Vmn2r14	G	T	5: 109,220,096	N343K	probably benign	Het
Xrcc6	T	A	15: 82,029,127	Y320*	probably null	Het
Zbtb10	A	C	3: 9,278,295	T627P	probably benign	Het
Zfp532	A	T	18: 65,623,553	K186*	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
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
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'- CCCAGGCCTACTATTTTGTGAC -3'
(R):5'- AAGATCTTCCACCAGTTCTGCC -3'

Sequencing Primer
(F):5'- CAGGCCTACTATTTTGTGACATAGC -3'
(R):5'- GGCTGAAGATTGATTGTGAC -3'

Posted On

2022-06-15