Mutagenetix > Incidental Mutation

Incidental Mutation 'R4826:Rassf8'

374147

Institutional Source

Beutler Lab

Gene Symbol

Rassf8

Ensembl Gene

ENSMUSG00000030259

Gene Name

Ras association (RalGDS/AF-6) domain family (N-terminal) member 8

Synonyms

mHoj-1, 5133400D11Rik

MMRRC Submission

042442-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.770) question?

Stock #

R4826 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

145692474-145766805 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 145762276 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 349 (L349H)

Ref Sequence

ENSEMBL: ENSMUSP00000107333 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032388] [ENSMUST00000058538] [ENSMUST00000111704] [ENSMUST00000140966]

AlphaFold

Q8CJ96

Predicted Effect

probably damaging
Transcript: ENSMUST00000032388
AA Change: L349H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032388
Gene: ENSMUSG00000030259
AA Change: L349H

Domain	Start	End	E-Value	Type
RA	1	82	4.17e-11	SMART
coiled coil region	161	354	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000058538

Predicted Effect

probably damaging
Transcript: ENSMUST00000111704
AA Change: L349H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107333
Gene: ENSMUSG00000030259
AA Change: L349H

Domain	Start	End	E-Value	Type
RA	1	82	4.17e-11	SMART
coiled coil region	161	354	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140966

SMART Domains

Protein: ENSMUSP00000122684
Gene: ENSMUSG00000030259

Domain	Start	End	E-Value	Type
RA	1	80	7.85e-7	SMART

Meta Mutation Damage Score

0.5031

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (72/72)

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-assocation domain family (RASSF) of tumor suppressor proteins. This gene is essential for maintaining adherens junction function in epithelial cells and has a role in epithelial cell migration. It is a lung tumor suppressor gene candidate. A chromosomal translocation t(12;22)(p11.2;q13.3) leading to the fusion of this gene and the FBLN1 gene is found in a complex type of synpolydactyly. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,815,470 (GRCm39)	R239S	probably damaging	Het
Acin1	A	G	14: 54,902,074 (GRCm39)	S573P	probably damaging	Het
Acta2	A	T	19: 34,229,223 (GRCm39)	Y55*	probably null	Het
Aifm2	T	C	10: 61,561,768 (GRCm39)	M38T	probably benign	Het
Ank2	C	A	3: 126,749,650 (GRCm39)	V460L	probably benign	Het
Ap1b1	T	C	11: 4,968,043 (GRCm39)	S185P	probably benign	Het
Arsj	A	G	3: 126,232,451 (GRCm39)	Y399C	probably damaging	Het
Ciao3	A	G	17: 25,999,306 (GRCm39)	H240R	probably damaging	Het
Clec2d	T	C	6: 129,161,122 (GRCm39)	V73A	probably benign	Het
Cntln	T	G	4: 84,923,281 (GRCm39)	M582R	probably benign	Het
Cyp4a10	C	T	4: 115,375,541 (GRCm39)	P8L	probably benign	Het
Dip2b	A	G	15: 100,067,162 (GRCm39)	N555D	probably damaging	Het
Dusp4	T	A	8: 35,285,671 (GRCm39)	F311I	probably damaging	Het
Eif4g3	T	C	4: 137,905,256 (GRCm39)	V1245A	possibly damaging	Het
Ephb3	G	A	16: 21,033,745 (GRCm39)	R23H	possibly damaging	Het
Ext2	T	C	2: 93,592,975 (GRCm39)	T410A	probably benign	Het
Fam193a	A	G	5: 34,593,875 (GRCm39)	E124G	probably damaging	Het
Fat4	T	A	3: 39,037,106 (GRCm39)	V3586E	probably damaging	Het
Frmd4a	T	C	2: 4,606,108 (GRCm39)	S611P	probably damaging	Het
Gcn1	A	G	5: 115,731,752 (GRCm39)	T956A	probably benign	Het
Gm10549	C	A	18: 33,603,838 (GRCm39)	T107K	unknown	Het
Herc6	T	A	6: 57,624,072 (GRCm39)	M614K	probably benign	Het
Hspg2	T	C	4: 137,292,706 (GRCm39)	C4095R	probably damaging	Het
Hyal5	T	C	6: 24,891,575 (GRCm39)	I463T	possibly damaging	Het
Icam5	C	T	9: 20,949,099 (GRCm39)	A817V	possibly damaging	Het
Igf2r	A	T	17: 12,920,240 (GRCm39)	D1366E	probably damaging	Het
Ints7	G	A	1: 191,344,018 (GRCm39)	V553I	probably damaging	Het
Iqgap2	T	A	13: 95,899,783 (GRCm39)	I92F	probably damaging	Het
Itgb1	T	A	8: 129,446,789 (GRCm39)	C435S	probably damaging	Het
Lrrc71	T	C	3: 87,650,615 (GRCm39)	M216V	probably benign	Het
Mgam	T	C	6: 40,657,582 (GRCm39)	V979A	possibly damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Myh9	A	T	15: 77,673,146 (GRCm39)	Y400*	probably null	Het
Nbeal1	A	G	1: 60,290,501 (GRCm39)	R1033G	possibly damaging	Het
Nit1	T	C	1: 171,173,166 (GRCm39)		probably benign	Het
Nlrp1c-ps	A	G	11: 71,133,343 (GRCm39)		noncoding transcript	Het
Nt5c1a	T	C	4: 123,102,365 (GRCm39)	V97A	probably damaging	Het
Or12k5	A	G	2: 36,895,345 (GRCm39)	Y94H	probably damaging	Het
Or13a18	T	A	7: 140,190,232 (GRCm39)	M51K	probably benign	Het
Or1a1b	A	G	11: 74,097,157 (GRCm39)	M295T	possibly damaging	Het
Or56a5	G	T	7: 104,793,175 (GRCm39)	N108K	probably damaging	Het
Or9m1	T	A	2: 87,733,693 (GRCm39)	D109V	probably damaging	Het
Pde4a	T	A	9: 21,103,676 (GRCm39)		probably null	Het
Pkn2	T	C	3: 142,515,270 (GRCm39)	K640R	probably damaging	Het
Pla2g6	A	G	15: 79,192,879 (GRCm39)	S263P	possibly damaging	Het
Prkg1	A	G	19: 31,742,006 (GRCm39)	S73P	possibly damaging	Het
Prr27	A	C	5: 87,998,825 (GRCm39)		probably benign	Het
Rad54b	G	T	4: 11,599,753 (GRCm39)	W319L	probably damaging	Het
Rmc1	G	T	18: 12,318,836 (GRCm39)		probably benign	Het
Rnf113a2	T	A	12: 84,464,388 (GRCm39)	N93K	probably benign	Het
Sapcd2	C	T	2: 25,262,768 (GRCm39)	A109V	probably benign	Het
Slamf9	C	A	1: 172,304,008 (GRCm39)	H118N	probably benign	Het
Slc37a1	A	G	17: 31,541,147 (GRCm39)	Y213C	probably damaging	Het
Slc5a1	A	G	5: 33,316,494 (GRCm39)	D580G	probably benign	Het
Slc7a2	T	A	8: 41,364,083 (GRCm39)	I432N	probably damaging	Het
Tas2r114	A	T	6: 131,666,800 (GRCm39)	L76Q	probably damaging	Het
Tcerg1	C	T	18: 42,668,180 (GRCm39)	P391L	unknown	Het
Tdrd12	A	C	7: 35,203,582 (GRCm39)	V314G	probably benign	Het
Zbtb7b	A	G	3: 89,288,080 (GRCm39)	L246S	probably benign	Het

Other mutations in Rassf8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02973:Rassf8	APN	6	145,762,916 (GRCm39)	unclassified	probably benign
IGL03017:Rassf8	APN	6	145,762,924 (GRCm39)	splice site	probably null
IGL03091:Rassf8	APN	6	145,761,536 (GRCm39)	missense	probably benign	0.00
R0230:Rassf8	UTSW	6	145,765,700 (GRCm39)	unclassified	probably benign
R0967:Rassf8	UTSW	6	145,765,676 (GRCm39)	unclassified	probably benign
R1429:Rassf8	UTSW	6	145,760,916 (GRCm39)	missense	probably damaging	1.00
R1622:Rassf8	UTSW	6	145,765,829 (GRCm39)	unclassified	probably benign
R1738:Rassf8	UTSW	6	145,761,034 (GRCm39)	missense	probably benign	0.03
R1894:Rassf8	UTSW	6	145,754,199 (GRCm39)	missense	probably damaging	1.00
R2126:Rassf8	UTSW	6	145,760,908 (GRCm39)	missense	probably benign	0.00
R2238:Rassf8	UTSW	6	145,762,910 (GRCm39)	missense	probably damaging	1.00
R2439:Rassf8	UTSW	6	145,761,060 (GRCm39)	missense	probably damaging	1.00
R3699:Rassf8	UTSW	6	145,765,802 (GRCm39)	unclassified	probably benign
R4678:Rassf8	UTSW	6	145,760,808 (GRCm39)	missense	probably damaging	1.00
R4734:Rassf8	UTSW	6	145,761,266 (GRCm39)	missense	probably benign	0.34
R4910:Rassf8	UTSW	6	145,761,006 (GRCm39)	nonsense	probably null
R4988:Rassf8	UTSW	6	145,762,870 (GRCm39)	missense	possibly damaging	0.89
R5425:Rassf8	UTSW	6	145,761,268 (GRCm39)	missense	probably benign
R5620:Rassf8	UTSW	6	145,765,907 (GRCm39)	unclassified	probably benign
R5747:Rassf8	UTSW	6	145,761,541 (GRCm39)	missense	probably benign	0.00
R6136:Rassf8	UTSW	6	145,761,382 (GRCm39)	missense	probably benign	0.00
R6220:Rassf8	UTSW	6	145,762,859 (GRCm39)	missense	probably damaging	1.00
R7274:Rassf8	UTSW	6	145,761,295 (GRCm39)	missense	probably benign	0.03
R7315:Rassf8	UTSW	6	145,761,477 (GRCm39)	missense	probably benign
R7480:Rassf8	UTSW	6	145,765,757 (GRCm39)	missense	unknown
R7593:Rassf8	UTSW	6	145,761,129 (GRCm39)	missense	probably benign	0.08
R7714:Rassf8	UTSW	6	145,760,973 (GRCm39)	missense	probably damaging	0.98
R7962:Rassf8	UTSW	6	145,761,669 (GRCm39)	critical splice donor site	probably null
R8222:Rassf8	UTSW	6	145,765,783 (GRCm39)	missense	unknown
R8374:Rassf8	UTSW	6	145,760,863 (GRCm39)	nonsense	probably null
R8409:Rassf8	UTSW	6	145,761,429 (GRCm39)	missense	probably benign
R9314:Rassf8	UTSW	6	145,762,296 (GRCm39)	missense	probably damaging	1.00
Z1088:Rassf8	UTSW	6	145,762,342 (GRCm39)	missense	probably benign	0.41
Z1088:Rassf8	UTSW	6	145,761,208 (GRCm39)	missense	probably benign
Z1176:Rassf8	UTSW	6	145,762,368 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACAGCATTGTCACTGTACCC -3'
(R):5'- TTGGTAAACAGGCTCATAAAGAAGC -3'

Sequencing Primer
(F):5'- CATAAACCAGGCGTGTCAAATG -3'
(R):5'- TGATTGGCCTTACCTGTC -3'

Posted On

2016-03-01