Mutagenetix > Incidental Mutation

Incidental Mutation 'R1738:Rassf8'

199865

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

039770-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.742) question?

Stock #

R1738 (G1)

Quality Score

215

Status

Not validated

Chromosome

Chromosomal Location

145692474-145766805 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 145761034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 120 (I120T)

Ref Sequence

ENSEMBL: ENSMUSP00000107333 (fasta)

Gene Model

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

AlphaFold

Q8CJ96

Predicted Effect

probably benign
Transcript: ENSMUST00000032388
AA Change: I120T

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000032388
Gene: ENSMUSG00000030259
AA Change: I120T

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 benign
Transcript: ENSMUST00000111704
AA Change: I120T

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000107333
Gene: ENSMUSG00000030259
AA Change: I120T

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

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.7%
20x: 89.9%

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-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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,682,475 (GRCm39)	Y202C	probably damaging	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adgrl3	T	G	5: 81,535,826 (GRCm39)	M155R	probably damaging	Het
Ak9	A	T	10: 41,211,917 (GRCm39)	Q218L	possibly damaging	Het
Akap13	G	A	7: 75,326,942 (GRCm39)	G647D	probably damaging	Het
Angptl3	A	G	4: 98,921,499 (GRCm39)	T206A	probably benign	Het
Arhgap19	A	G	19: 41,772,820 (GRCm39)	I291T	probably benign	Het
BC049715	C	T	6: 136,817,306 (GRCm39)	P182L	probably damaging	Het
Bsn	T	C	9: 107,984,133 (GRCm39)	D3307G	unknown	Het
Cby2	C	T	14: 75,830,497 (GRCm39)	M1I	probably null	Het
Ces2h	T	A	8: 105,745,697 (GRCm39)		probably null	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Col4a2	T	A	8: 11,496,238 (GRCm39)	F1620I	probably damaging	Het
Col6a3	T	C	1: 90,744,083 (GRCm39)	E88G	probably damaging	Het
Coro6	A	G	11: 77,360,251 (GRCm39)	D407G	probably benign	Het
Cpe	A	T	8: 65,064,475 (GRCm39)	F241L	probably damaging	Het
Csde1	A	G	3: 102,936,493 (GRCm39)		probably benign	Het
Cspg4b	T	G	13: 113,504,034 (GRCm39)	L179R	possibly damaging	Het
Dgki	A	G	6: 37,034,367 (GRCm39)	I361T	possibly damaging	Het
Dnah3	A	G	7: 119,634,582 (GRCm39)	V1298A	probably damaging	Het
Duox2	T	A	2: 122,123,895 (GRCm39)	I430F	probably damaging	Het
Gak	T	C	5: 108,764,842 (GRCm39)	Y153C	probably damaging	Het
Gal3st2	T	A	1: 93,802,318 (GRCm39)		probably null	Het
Gbp11	T	C	5: 105,474,510 (GRCm39)	N389D	probably benign	Het
Grm1	A	G	10: 10,812,163 (GRCm39)	V287A	probably damaging	Het
Hsp90ab1	T	C	17: 45,882,732 (GRCm39)	K36E	probably damaging	Het
Il24	T	A	1: 130,815,099 (GRCm39)		probably null	Het
Ino80d	T	C	1: 63,132,624 (GRCm39)	D13G	probably damaging	Het
Ipp	G	A	4: 116,387,618 (GRCm39)	V399I	probably benign	Het
Kank3	A	T	17: 34,036,168 (GRCm39)	D12V	probably damaging	Het
Lcn12	A	T	2: 25,383,263 (GRCm39)	S74R	probably damaging	Het
Mast3	T	C	8: 71,237,200 (GRCm39)	T637A	probably benign	Het
Nes	C	A	3: 87,883,728 (GRCm39)	Y662*	probably null	Het
Nudt13	A	T	14: 20,359,762 (GRCm39)	H163L	probably damaging	Het
Or1j17	T	C	2: 36,578,797 (GRCm39)	V261A	probably benign	Het
Or4a2	T	C	2: 89,248,362 (GRCm39)	T132A	probably benign	Het
Or4p7	G	A	2: 88,221,671 (GRCm39)	V27I	probably benign	Het
Or8k1	A	T	2: 86,048,060 (GRCm39)		probably null	Het
Pde6b	C	T	5: 108,578,425 (GRCm39)	R788*	probably null	Het
Pex13	A	G	11: 23,599,458 (GRCm39)	L351P	probably benign	Het
Phc1	A	G	6: 122,295,525 (GRCm39)	M942T	probably damaging	Het
Plch1	A	T	3: 63,626,659 (GRCm39)	D571E	probably benign	Het
Plec	C	T	15: 76,070,418 (GRCm39)	V931M	probably damaging	Het
Plekhh2	A	G	17: 84,874,125 (GRCm39)	N470S	possibly damaging	Het
Primpol	A	G	8: 47,060,873 (GRCm39)	S82P	probably damaging	Het
Prkg1	T	C	19: 30,764,322 (GRCm39)	D256G	possibly damaging	Het
Prune2	A	G	19: 17,102,374 (GRCm39)	E2511G	probably benign	Het
Rfx4	G	A	10: 84,716,839 (GRCm39)		probably null	Het
Rtp2	A	T	16: 23,746,423 (GRCm39)	N69K	probably benign	Het
Sh3d19	A	T	3: 86,027,913 (GRCm39)	I597F	probably damaging	Het
Sorl1	T	A	9: 42,001,261 (GRCm39)	E246D	probably benign	Het
Tet2	T	A	3: 133,187,148 (GRCm39)	I1094L	probably benign	Het
Tlr4	A	T	4: 66,759,313 (GRCm39)	H702L	probably benign	Het
Tnfrsf14	T	C	4: 155,009,788 (GRCm39)	D47G	probably damaging	Het
Ttn	T	C	2: 76,777,157 (GRCm39)	Y1415C	probably damaging	Het
Vmn2r17	T	A	5: 109,576,377 (GRCm39)	F416Y	probably benign	Het
Vmn2r54	A	G	7: 12,369,815 (GRCm39)	S83P	probably benign	Het
Vtn	A	G	11: 78,390,422 (GRCm39)	D53G	possibly damaging	Het
Vwde	A	T	6: 13,190,723 (GRCm39)	V456D	probably damaging	Het
Wdr91	G	A	6: 34,861,243 (GRCm39)	P653L	probably damaging	Het
Ythdf1	G	A	2: 180,553,285 (GRCm39)	A283V	probably benign	Het
Zfp975	C	A	7: 42,312,373 (GRCm39)	W80L	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
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
R4826:Rassf8	UTSW	6	145,762,276 (GRCm39)	missense	probably damaging	1.00
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'- GCACTTGGCACCGCATGAAAAC -3'
(R):5'- AGCTGTACTTCTGCTCCCAGAACC -3'

Sequencing Primer
(F):5'- CCATCGTGTCTTTGAACAAGTG -3'
(R):5'- AGAACCGGATCTCTGCCTC -3'

Posted On

2014-05-23