Mutagenetix > Incidental Mutation

Incidental Mutation 'RF013:Rassf6'

603325

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: 0.075) question?

Stock #

RF013 (G1)

Quality Score

170.468

Status

Not validated

Chromosome

Chromosomal Location

90750935-90788516 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

TC to TCTGCCTCACTCATGGTCCTGTAGAGCATTGGGGATCC at 90756800 bp (GRCm39)

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: 98.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,989,553 (GRCm39)		probably benign	Het
Adamts9	A	G	6: 92,920,126 (GRCm39)	V4A	possibly damaging	Het
AI837181	GGC	GGCTGC	19: 5,475,260 (GRCm39)		probably benign	Het
Alk	A	G	17: 72,202,931 (GRCm39)	Y1135H	probably damaging	Het
Ankhd1	CGGCGG	CGGCGGAGGCGG	18: 36,693,979 (GRCm39)		probably benign	Het
Ano3	A	C	2: 110,527,381 (GRCm39)	L609R	probably benign	Het
Bicc1	A	G	10: 70,771,660 (GRCm39)		probably null	Het
Bltp1	TTAT	TTATTATTATTATTAGTAT	3: 37,104,906 (GRCm39)		probably benign	Het
Card6	T	C	15: 5,129,624 (GRCm39)	I591V	probably benign	Het
Ccdc121rt2	T	A	5: 112,597,937 (GRCm39)	N161K	probably benign	Het
Ccdc18	A	G	5: 108,368,582 (GRCm39)	N1235D	probably benign	Het
Cd109	TTAT	TTATTTATTTATCTAT	9: 78,619,813 (GRCm39)		probably benign	Het
Cnpy3	CCT	CCTGCT	17: 47,047,670 (GRCm39)		probably benign	Het
Col6a5	GCAGTC	GCAGTCTCCAGTC	9: 105,755,796 (GRCm39)		probably null	Het
Cyb5r4	GACACACTGCCCAGGGA	GACACACTGCCCAGGGATGTGACACACACACTGCCCAGGGA	9: 86,922,485 (GRCm39)		probably benign	Het
Cyp8b1	A	T	9: 121,744,561 (GRCm39)	M257K	possibly damaging	Het
Dbf4	A	T	5: 8,447,985 (GRCm39)	H408Q	possibly damaging	Het
Defb22	TTGCGGCA	TTGCGGCAGAGCTGGCCTGTGCGGCA	2: 152,327,751 (GRCm39)		probably benign	Het
Ercc6l2	A	T	13: 64,000,831 (GRCm39)	T417S	probably benign	Het
Exd2	AGCCACAG	A	12: 80,522,706 (GRCm39)		probably null	Het
Fam171b	GC	GCAGCATC	2: 83,643,239 (GRCm39)		probably benign	Het
Flvcr2	T	A	12: 85,793,960 (GRCm39)	L112Q	probably damaging	Het
Flywch1	GTG	GTGGGGGGAGGCTACGTACTCACCCACTCCTTTTG	17: 23,981,149 (GRCm39)		probably null	Het
Gabre	TCAGGCTCAGGCT	TCAGGCTCAGGCTCAGGCT	X: 71,314,022 (GRCm39)		probably benign	Het
Garin5a	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGACGGCTGGATCCTGGATCACTGGGTCTGAGGGAGGA	7: 44,149,944 (GRCm39)		probably null	Het
Gm4884	C	A	7: 40,690,233 (GRCm39)	P43Q	probably damaging	Het
Grm8	A	G	6: 27,363,779 (GRCm39)	W579R	probably damaging	Het
Hsdl2	AG	AGCAGCAGCCACAGCTGCCG	4: 59,610,657 (GRCm39)		probably benign	Het
Ivl	CTGCTGCTGCTGCTGT	C	3: 92,479,650 (GRCm39)		probably benign	Het
Kif18b	T	C	11: 102,803,192 (GRCm39)	D506G	probably benign	Het
Krtap28-10	AGCCAC	AGCCACGGCCAC	1: 83,019,856 (GRCm39)		probably benign	Het
Krtap28-10	GCCACAGCCACCACA	GCCACAGCCACCACATCCACAGCCACCACA	1: 83,019,995 (GRCm39)		probably benign	Het
Lama1	C	A	17: 68,088,057 (GRCm39)	S1558R		Het
Lcmt1	C	CCGCGGGGCTT	7: 122,969,059 (GRCm39)		probably null	Het
Lmna	A	G	3: 88,391,361 (GRCm39)	V494A	probably benign	Het
Mapk6	CCAC	CCACCTCAC	9: 75,295,542 (GRCm39)		probably null	Het
Mboat7	T	A	7: 3,694,856 (GRCm39)	H52L	probably damaging	Het
Med12l	CAG	CAGAAG	3: 59,183,387 (GRCm39)		probably benign	Het
Morc2a	T	A	11: 3,626,191 (GRCm39)	M225K	probably benign	Het
Mpdz	G	A	4: 81,211,829 (GRCm39)	A1566V	possibly damaging	Het
Mpi	T	C	9: 57,455,924 (GRCm39)	D186G	probably benign	Het
Mtmr12	C	A	15: 12,261,984 (GRCm39)	N386K	probably damaging	Het
Myh3	ATTAC	ATTACTTAC	11: 66,977,182 (GRCm39)		probably null	Het
Myo10	T	A	15: 25,799,565 (GRCm39)	M1376K	probably damaging	Het
Nbas	C	T	12: 13,329,409 (GRCm39)	T118I	possibly damaging	Het
Nedd4l	C	T	18: 65,342,751 (GRCm39)	R755C	probably damaging	Het
Nefh	GACTTGGCCTCACCTGGG	GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG	11: 4,891,032 (GRCm39)		probably benign	Het
Numa1	T	C	7: 101,648,987 (GRCm39)	L906P	probably damaging	Het
Or6s1	G	A	14: 51,308,469 (GRCm39)	A127V	probably damaging	Het
Or7h8	T	C	9: 20,124,190 (GRCm39)	S182P	probably benign	Het
Otop2	G	T	11: 115,214,492 (GRCm39)	R83L	probably benign	Het
Pmm1	T	A	15: 81,842,014 (GRCm39)	Q62L	probably damaging	Het
Pramel16	C	G	4: 143,675,478 (GRCm39)	Q449H	probably damaging	Het
Ptprj	A	T	2: 90,301,514 (GRCm39)	L206*	probably null	Het
Rps19	A	AGAAAAT	7: 24,588,605 (GRCm39)		probably benign	Het
Rsrp1	T	A	4: 134,651,266 (GRCm39)	V10E	unknown	Het
Sh2d6	C	T	6: 72,493,371 (GRCm39)		probably null	Het
Six4	TG	T	12: 73,150,356 (GRCm39)		probably null	Het
Slc6a15	T	A	10: 103,236,077 (GRCm39)	V264D	probably damaging	Het
Snapc5	ATGGAAGAAGAGG	A	9: 64,089,493 (GRCm39)		probably benign	Het
Sost	A	T	11: 101,854,958 (GRCm39)	I117N	probably damaging	Het
Spmip5	A	G	19: 58,777,726 (GRCm39)	F28S	probably damaging	Het
Tbc1d22a	AGGTGTGTG	A	15: 86,183,975 (GRCm39)		probably null	Het
Tcaf1	C	T	6: 42,656,107 (GRCm39)	V290I	probably benign	Het
Tcof1	GCA	GCACCA	18: 60,968,815 (GRCm39)		probably benign	Het
Tex55	T	C	16: 38,648,363 (GRCm39)	T249A	probably benign	Het
Tgfbr1	A	G	4: 47,353,354 (GRCm39)	I15V	unknown	Het
Tmem241	A	T	18: 12,116,618 (GRCm39)	L288Q	probably damaging	Het
Tnfrsf13b	T	G	11: 61,032,270 (GRCm39)	V100G	probably benign	Het
Trim66	A	G	7: 109,059,960 (GRCm39)	S809P	probably damaging	Het
Tubb4a	C	G	17: 57,394,464 (GRCm39)	G17A	possibly damaging	Het
Txndc16	A	G	14: 45,406,795 (GRCm39)	V220A	probably benign	Het
Zan	T	A	5: 137,389,982 (GRCm39)	Q4830L	unknown	Het

Other mutations in Rassf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Rassf6	APN	5	90,751,999 (GRCm39)	missense	probably damaging	1.00
IGL00819:Rassf6	APN	5	90,751,930 (GRCm39)	missense	probably benign	0.03
IGL01139:Rassf6	APN	5	90,756,825 (GRCm39)	makesense	probably null
IGL03114:Rassf6	APN	5	90,756,649 (GRCm39)	splice site	probably benign
R1956:Rassf6	UTSW	5	90,763,730 (GRCm39)	nonsense	probably null
R2167:Rassf6	UTSW	5	90,751,797 (GRCm39)	missense	probably damaging	1.00
R2351:Rassf6	UTSW	5	90,779,418 (GRCm39)	missense	probably benign	0.05
R2877:Rassf6	UTSW	5	90,754,664 (GRCm39)	missense	probably damaging	1.00
R3943:Rassf6	UTSW	5	90,752,185 (GRCm39)	missense	possibly damaging	0.49
R3944:Rassf6	UTSW	5	90,752,185 (GRCm39)	missense	possibly damaging	0.49
R4131:Rassf6	UTSW	5	90,757,646 (GRCm39)	missense	probably damaging	1.00
R5134:Rassf6	UTSW	5	90,752,225 (GRCm39)	critical splice acceptor site	probably null
R5153:Rassf6	UTSW	5	90,754,699 (GRCm39)	missense	possibly damaging	0.81
R5633:Rassf6	UTSW	5	90,751,977 (GRCm39)	missense	possibly damaging	0.84
R5994:Rassf6	UTSW	5	90,765,627 (GRCm39)	missense	probably damaging	1.00
R6000:Rassf6	UTSW	5	90,751,736 (GRCm39)	missense	probably damaging	1.00
R6746:Rassf6	UTSW	5	90,757,633 (GRCm39)	missense	possibly damaging	0.80
R7038:Rassf6	UTSW	5	90,757,584 (GRCm39)	missense	probably benign	0.13
R7190:Rassf6	UTSW	5	90,754,666 (GRCm39)	missense	probably damaging	1.00
R7549:Rassf6	UTSW	5	90,754,661 (GRCm39)	missense	probably damaging	1.00
R8497:Rassf6	UTSW	5	90,779,391 (GRCm39)	missense	possibly damaging	0.83
R9472:Rassf6	UTSW	5	90,765,572 (GRCm39)	nonsense	probably null
RF002:Rassf6	UTSW	5	90,756,784 (GRCm39)	nonsense	probably null
RF002:Rassf6	UTSW	5	90,756,780 (GRCm39)	utr 3 prime	probably benign
RF004:Rassf6	UTSW	5	90,756,778 (GRCm39)	utr 3 prime	probably benign
RF011:Rassf6	UTSW	5	90,756,780 (GRCm39)	utr 3 prime	probably benign
RF018:Rassf6	UTSW	5	90,756,788 (GRCm39)	utr 3 prime	probably benign
RF032:Rassf6	UTSW	5	90,756,798 (GRCm39)	utr 3 prime	probably benign
RF034:Rassf6	UTSW	5	90,756,776 (GRCm39)	utr 3 prime	probably benign
RF034:Rassf6	UTSW	5	90,756,771 (GRCm39)	utr 3 prime	probably benign
RF034:Rassf6	UTSW	5	90,756,782 (GRCm39)	utr 3 prime	probably benign
RF035:Rassf6	UTSW	5	90,756,767 (GRCm39)	utr 3 prime	probably benign
RF036:Rassf6	UTSW	5	90,756,774 (GRCm39)	utr 3 prime	probably benign
RF038:Rassf6	UTSW	5	90,756,789 (GRCm39)	utr 3 prime	probably benign
RF038:Rassf6	UTSW	5	90,756,783 (GRCm39)	utr 3 prime	probably benign
RF039:Rassf6	UTSW	5	90,756,798 (GRCm39)	utr 3 prime	probably benign
RF039:Rassf6	UTSW	5	90,756,774 (GRCm39)	utr 3 prime	probably benign
RF043:Rassf6	UTSW	5	90,756,798 (GRCm39)	utr 3 prime	probably benign
RF043:Rassf6	UTSW	5	90,756,791 (GRCm39)	utr 3 prime	probably benign
RF049:Rassf6	UTSW	5	90,756,772 (GRCm39)	utr 3 prime	probably benign
RF051:Rassf6	UTSW	5	90,756,788 (GRCm39)	utr 3 prime	probably benign
RF052:Rassf6	UTSW	5	90,756,782 (GRCm39)	utr 3 prime	probably benign
RF052:Rassf6	UTSW	5	90,756,775 (GRCm39)	utr 3 prime	probably benign
RF054:Rassf6	UTSW	5	90,756,790 (GRCm39)	utr 3 prime	probably benign
RF054:Rassf6	UTSW	5	90,756,783 (GRCm39)	utr 3 prime	probably benign
RF054:Rassf6	UTSW	5	90,756,770 (GRCm39)	utr 3 prime	probably benign
RF063:Rassf6	UTSW	5	90,756,801 (GRCm39)	nonsense	probably null
X0017:Rassf6	UTSW	5	90,754,648 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGTTAGGCATCTGCTACCG -3'
(R):5'- AGTGAACGGCTTGGAACAGC -3'

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

Posted On

2019-12-04