Mutagenetix > Incidental Mutation

Incidental Mutation 'RF035:Rassf6'

604527

Institutional Source

Beutler Lab

Gene Symbol

Rassf6

Ensembl Gene

ENSMUSG00000029370

Gene Name

Ras association (RalGDS/AF-6) domain family member 6

Synonyms

1600016B17Rik

Accession Numbers

Essential gene?

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

Stock #

RF035 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

90603076-90640657 bp(-) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

GCCTCACTCATGGTCCTGTAGAGCAATGGGGATTC to GCCTCACTCATGGTCCTGTAGAGCAATGGGGATTCTTCCTCACTCATGGTCCTGTAGAGCAATGGGGATTC at 90608908 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000031317

SMART Domains

Protein: ENSMUSP00000031317
Gene: ENSMUSG00000029370

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: ENSMUST00000202704

SMART Domains

Protein: ENSMUSP00000144532
Gene: ENSMUSG00000029370

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

SMART Domains

Protein: ENSMUSP00000144337
Gene: ENSMUSG00000029370

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: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	TAT	TATTATTATTATTATGAT	3: 37,050,758		probably benign	Het
A030005L19Rik	T	TTTGGCTGCC	1: 82,913,589		probably benign	Het
Acap3	TGCATCCTGGGCTGC	TGCATCCTGGGCTGCCGCATCCTGGGCTGC	4: 155,905,091		probably benign	Het
AI837181	G	GGCT	19: 5,425,238		probably benign	Het
Amfr	GCC	GCCGGCGCGAGCTCC	8: 94,012,292		probably benign	Het
Amot	GGAGCAGCAA	G	X: 145,450,988		probably benign	Het
Cacna1f	GAG	GAGTAG	X: 7,620,054		probably null	Het
Calhm1	CTGTGGCTGTGGCTGTGGCTGTGG	CTGTGGCTGTGGTTGTGGCTGTGGCTGTGGCTGTGG	19: 47,141,253		probably benign	Het
Chga	G	GCAT	12: 102,561,427		probably benign	Het
E4f1	CGC	CGCTGC	17: 24,455,190		probably benign	Het
E4f1	CCG	CCGGCG	17: 24,455,195		probably benign	Het
Eps8	C	CTCAG	6: 137,517,070		probably null	Het
Exd2	GCAGCCACAGCAGCCGCAGCAGCCGCAGCCACAGCCACAGCCACAGCCACAGCCACAGC	GCAGCCACAGC	12: 80,475,900		probably benign	Het
Exd2	CAGCCAGAGC	CAGC	12: 80,475,955		probably benign	Het
Gm10447	AAAAAAAAAGAAAAA	AAAAAA	11: 53,456,338		probably benign	Het
Gm10521	CTCTCTCTCT	CTCTCTCTCTCTCT	1: 171,896,293		probably null	Het
Gm8369	TGTG	TGTGCGAGTG	19: 11,511,773		probably benign	Het
Gucy1b2	CACACACACACACACACTTAC	CAC	14: 62,408,641		probably benign	Het
Ier5l	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTG	2: 30,473,820		probably benign	Het
Kmt2b	TTCTCCT	TTCTCCTTCTCCT	7: 30,586,357		probably benign	Het
Krtap28-10	CAG	CAGCCAAAG	1: 83,042,146		probably benign	Het
Krtap28-10	CCACCACAGC	CCACCACAGCCACAGTCACCACAGC	1: 83,042,281		probably benign	Het
Lmx1b	TCCATCTTGATGCCGTCCAACATCTTGATGCCGTCCA	TACATCTTGATGCCGTCCA	2: 33,640,489		probably null	Het
Mamld1	GCAACA	GCAACAACA	X: 71,118,812		probably benign	Het
Mamld1	AGC	AGCCGC	X: 71,118,838		probably benign	Het
Mamld1	AGC	AGCGGC	X: 71,118,850		probably benign	Het
Manbal	CGATAGAAT	C	2: 157,396,012		probably null	Het
Map1a	GCTCCAGCTCCAGCTCCA	GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCAGCTCCA	2: 121,306,301		probably benign	Het
Mcph1	CTCT	CTCTTCT	8: 18,652,525		probably benign	Het
Nefh	CCTCACCTGGGGACTTGG	CCTCACCTGGGGACTTGGGCTCACCTGGGGACTTGG	11: 4,941,039		probably benign	Het
Nusap1	GATACACGTTAGCAGTGAGGAGCAAGCTGA	GATACACGTTAGCAGTGAGGAGCAAGCTGATATACACGTTAGCAGTGAGGAGCAAGCTGA	2: 119,627,579		probably benign	Het
Olfr331	TGGAGGTGGATTGG	TG	11: 58,502,382		probably benign	Het
P4ha2	CCAGGTG	C	11: 54,110,235		probably benign	Het
Pdik1l	CCACCA	CCACCAACACCA	4: 134,279,510		probably benign	Het
Rfx4	TCTCTCTCTCTCTCT	TCTCTCTCTCTCTCTCGCTCTCTCTCTCTCT	10: 84,858,480		probably benign	Het
Rgs22	GCTAAAAAAAAAAAAAAAAA	G	15: 36,010,835		probably benign	Het
Rpgrip1	AGG	AGGGGG	14: 52,149,393		probably benign	Het
Slc39a4	TGTGGTC	TGTGGTCATCATGATCACCATGGTCACCATGAGCACGGTGGTC	15: 76,614,866		probably benign	Het
Srpk2	ATCCT	AT	5: 23,525,575		probably benign	Het
Strn	AGTC	AGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCTGTC	17: 78,677,285		probably null	Het
Tcof1	AAGAT	AAGATTGGCCCTTTCCCAGAGATGCCCTTGGCTGCTGAGAT	18: 60,833,553		probably benign	Het
Tfeb	AGC	AGCCGC	17: 47,786,111		probably benign	Het
Tmem59	T	TGTTTGTTG	4: 107,190,532		probably benign	Het
Trav6d-5	ATTTTT	ATTTTTTTTTT	14: 52,795,334		probably benign	Het
Triobp	CAGGACTCCCTGTGCCCAACGG	CAGGACTCCCTGTGCCCAACGGAACAACCCAAGGACTCCCTGTGCCCAACGG	15: 78,967,039		probably benign	Het
Tsen2	GGA	GGATGA	6: 115,560,067		probably benign	Het
Ttf2	TTCT	TTCTTCT	3: 100,963,157		probably benign	Het
Vat1l	C	T	8: 114,289,329	L320F	probably damaging	Het
Xirp2	TT	TTTAT	2: 67,525,544		probably benign	Het
Yipf3	AGAGGA	AGA	17: 46,248,972		probably benign	Het
Zfp933	TT	TTTGCGT	4: 147,825,731		probably null	Het
Znrd1as	CACCAC	CACCACCCCCACCACCACCACAACCAC	17: 36,965,066		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
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
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'- AACCTGGGTGAGTGTTAGGC -3'
(R):5'- CTTGTTAATAAAAGCACGCCAGC -3'

Sequencing Primer
(F):5'- AGTGTTAGGCATCTGCTACCGC -3'
(R):5'- CGTCCCTACGTTGCAAGAAGATAG -3'

Posted On

2019-12-04