Mutagenetix > Incidental Mutation

Incidental Mutation 'RF036:Rassf6'

604579

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: 0.087) question?

Stock #

RF036 (G1)

Quality Score

147.467

Status

Not validated

Chromosome

Chromosomal Location

90603076-90640657 bp(-) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

TCATGGTCCTGTAGAGCAATGGGGATTC to TCATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACGCATGGTCCTGTAGAGCAATGGGGATTC at 90608915 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: 99.3%
20x: 98.5%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	TCCCTG	17: 24,287,727		probably benign	Het
Acap3	G	GGGCTGCATCCTGGGC	4: 155,905,087		probably benign	Het
Adgra3	GGCCGC	GGC	5: 50,058,641		probably benign	Het
Blm	CCTCCTCCTCCT	CCTCCTCCTCCTACTCCTCCTCCT	7: 80,512,914		probably null	Het
Calhm1	C	CTGTGGCTGTGGG	19: 47,141,277		probably benign	Het
Cdx1	CTGCTG	CTGCTGTTGCTG	18: 61,019,870		probably benign	Het
Cherp	ACCTGGACC	AC	8: 72,462,044		probably null	Het
Cherp	TGGACC	T	8: 72,462,047		probably null	Het
Cyb5r4	CAGACACACTGCC	CAGACACACTGCCTAGGGATGTGATAGACACACTGCC	9: 87,040,430		probably benign	Het
Dcdc2b	GCTGC	GCTGCCAGGCCTGC	4: 129,609,651		probably benign	Het
Fam171b	GCAGC	GCAGCAACAGC	2: 83,812,892		probably benign	Het
Foxd3	GGACCCTACGGCCG	GG	4: 99,657,396		probably benign	Het
Fsip2	TTTT	TTTTTCTTT	2: 82,984,363		probably benign	Het
Gm8369	GTGTGT	GTGTGTATGTGT	19: 11,511,778		probably benign	Het
Il2	GTGG	GTGGGGCTTGAATTGG	3: 37,125,827		probably benign	Het
Iqcf4	TCCTTTTCCTTTT	TCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTGCCTTTTCCTTTT	9: 106,570,611		probably benign	Het
Ivl	TGCTGCTGCTGCTGC	T	3: 92,572,341		probably null	Het
Kif12	C	CCTCCACCCGGCGGGT	4: 63,171,427		probably benign	Het
Lkaaear1	CCAGCTCCAGCT	CCAGCTCCAGCTACAGCTCCAGCT	2: 181,697,588		probably benign	Het
Lrtm1	TAGCCTCAGTGGCC	T	14: 29,021,443		probably null	Het
Mamld1	CAG	CAGGAG	X: 71,118,828		probably benign	Het
Mamld1	AGC	AGCCGC	X: 71,118,835		probably benign	Het
Mamld1	CAG	CAGAAG	X: 71,118,840		probably benign	Het
Morn4	GTGAG	GTGAGTCAGGCAATGAG	19: 42,076,114		probably null	Het
Nefh	TGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	TGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,010		probably benign	Het
Nefh	CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,016		probably benign	Het
Nefh	TGGCCTC	TGGCCTCGCCTGGGGACTGGGCCTC	11: 4,941,036		probably benign	Het
Nefh	GGGAC	GGGACGTGGCATCACCTGTGGAC	11: 4,941,048		probably benign	Het
Nusap1	TTAGCAGTGAGGAGCA	TTAGCAGTGAGGAGCACGCTGAGATACACGCTAGCAGTGAGGAGCA	2: 119,627,587		probably benign	Het
Nusap1	TGAGGAGCAAGCTGAGA	TGAGGAGCAAGCTGAGATACACGTTAGCAGGGAGGAGCAAGCTGAGA	2: 119,627,594		probably benign	Het
Olfr418	GTGACATC	G	1: 173,270,709		probably null	Het
Phc1	CTTGCTG	CTTGCTGTTGCTG	6: 122,323,580		probably benign	Het
Rnf144a	TCTCTCTCTC	TCTCTCTCTCTCTCTCACTCTCTCTC	12: 26,314,008		probably benign	Het
Rnf144a	CTCTC	CTCTCTCTCTCTCTCTATCTC	12: 26,314,013		probably benign	Het
Rpgrip1	AGAGGAAG	A	14: 52,149,541		probably null	Het
Rsf1	CG	CGATG	7: 97,579,908		probably benign	Het
Setd1a	GTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	GTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	7: 127,785,300		probably benign	Het
Stat1	G	T	1: 52,152,260	E591D	probably benign	Het
Strn	CTTACCCCAGTC	CTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCATTACCCCAGTC	17: 78,677,277		probably null	Het
Tcof1	CT	CTAGT	18: 60,828,408		probably benign	Het
Tcof1	AGC	AGCGGC	18: 60,835,736		probably benign	Het
Tfeb	GCA	GCACCA	17: 47,786,103		probably benign	Het
Thegl	G	GCGATCCTCCCCAGTCCCGCAAGGCCAT	5: 77,016,429		probably benign	Het
Tomm5	GCATCTTCC	GCATCTTCCACATCTTCC	4: 45,107,973		probably benign	Het
Trappc9	GCTGCTGCTGCT	GCTGCTGCTGCTGCTTCTGCTGCTGCT	15: 72,801,320		probably benign	Het
Ubtf	CTTC	CTTCTTC	11: 102,306,945		probably benign	Het
Usp2	ACTTAC	ACTTACTCATGTGACCCGTTCTTCCCTTAC	9: 44,089,124		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
RF035:Rassf6	UTSW	5	90608908	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'- GTGTTAGGCATCTGCTACCG -3'
(R):5'- GCCAGGAAATAGCAGTCATTC -3'

Sequencing Primer
(F):5'- CCGCTGTTATTACTAACTTGAATGC -3'
(R):5'- TCTTGTTAATAAAAGCACGCCAGCG -3'

Posted On

2019-12-04