Mutagenetix > Incidental Mutation

Incidental Mutation 'R8469:Nras'

656942

Institutional Source

Beutler Lab

Gene Symbol

Nras

Ensembl Gene

ENSMUSG00000027852

Gene Name

neuroblastoma ras oncogene

Synonyms

N-ras

MMRRC Submission

067913-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.766) question?

Stock #

R8469 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102965643-102975230 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 102966217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142434 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029445] [ENSMUST00000029446] [ENSMUST00000128264] [ENSMUST00000196355] [ENSMUST00000197488] [ENSMUST00000197678] [ENSMUST00000197827] [ENSMUST00000198180] [ENSMUST00000199049] [ENSMUST00000199240] [ENSMUST00000199367] [ENSMUST00000199420] [ENSMUST00000199571] [ENSMUST00000200069] [ENSMUST00000200457]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029445

SMART Domains

Protein: ENSMUSP00000029445
Gene: ENSMUSG00000027852

Domain	Start	End	E-Value	Type
RAS	1	166	1.09e-120	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000029446

SMART Domains

Protein: ENSMUSP00000029446
Gene: ENSMUSG00000068823

Domain	Start	End	E-Value	Type
CSP	27	90	3.11e-16	SMART
CSP	187	248	1.52e-19	SMART
CSP	350	413	6.22e-16	SMART
CSP	520	582	2.86e-15	SMART
CSP	675	738	2.2e-16	SMART
Pfam:SUZ-C	757	788	3.3e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128264

Predicted Effect

probably benign
Transcript: ENSMUST00000196355

SMART Domains

Protein: ENSMUSP00000142438
Gene: ENSMUSG00000027852

Domain	Start	End	E-Value	Type
RAS	1	166	1.09e-120	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000197488

SMART Domains

Protein: ENSMUSP00000143524
Gene: ENSMUSG00000068823

Domain	Start	End	E-Value	Type
CSP	27	90	3.11e-16	SMART
CSP	156	217	1.52e-19	SMART
CSP	319	382	6.22e-16	SMART
CSP	489	551	2.86e-15	SMART
CSP	644	707	2.2e-16	SMART
Pfam:SUZ-C	726	757	1.7e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197678

SMART Domains

Protein: ENSMUSP00000142603
Gene: ENSMUSG00000027852

Domain	Start	End	E-Value	Type
RAS	1	150	4.08e-102	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000197827

SMART Domains

Protein: ENSMUSP00000143503
Gene: ENSMUSG00000068823

Domain	Start	End	E-Value	Type
CSP	27	90	3.11e-16	SMART
CSP	187	248	1.52e-19	SMART
CSP	350	413	6.22e-16	SMART
CSP	520	582	2.86e-15	SMART
CSP	675	738	2.2e-16	SMART
Pfam:SUZ-C	757	788	3.3e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000198174

Predicted Effect

probably benign
Transcript: ENSMUST00000198180

SMART Domains

Protein: ENSMUSP00000142983
Gene: ENSMUSG00000068823

Domain	Start	End	E-Value	Type
CSP	27	90	3.11e-16	SMART
CSP	156	217	1.52e-19	SMART
CSP	319	382	6.22e-16	SMART
CSP	489	551	2.86e-15	SMART
CSP	644	707	2.2e-16	SMART
Pfam:SUZ-C	725	758	5.4e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199049

SMART Domains

Protein: ENSMUSP00000143644
Gene: ENSMUSG00000027852

Domain	Start	End	E-Value	Type
RAS	1	166	5.3e-123	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000199240

SMART Domains

Protein: ENSMUSP00000143050
Gene: ENSMUSG00000068823

Domain	Start	End	E-Value	Type
CSP	57	118	9e-22	SMART
CSP	220	283	3.8e-18	SMART
CSP	390	452	1.7e-17	SMART
CSP	545	608	1.4e-18	SMART
Pfam:SUZ-C	626	659	6.2e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199367

SMART Domains

Protein: ENSMUSP00000143620
Gene: ENSMUSG00000027852

Domain	Start	End	E-Value	Type
small_GTPase	1	74	1.2e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000199420

SMART Domains

Protein: ENSMUSP00000142703
Gene: ENSMUSG00000068823

Domain	Start	End	E-Value	Type
CSP	27	90	3.11e-16	SMART
CSP	156	217	1.52e-19	SMART
CSP	319	382	6.22e-16	SMART
CSP	489	551	2.86e-15	SMART
CSP	644	707	2.2e-16	SMART
Pfam:SUZ-C	725	758	5.4e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199571

SMART Domains

Protein: ENSMUSP00000143028
Gene: ENSMUSG00000068823

Domain	Start	End	E-Value	Type
CSP	27	90	3.11e-16	SMART
CSP	156	217	1.52e-19	SMART
CSP	319	382	6.22e-16	SMART
CSP	489	551	2.86e-15	SMART
CSP	644	707	2.2e-16	SMART
Pfam:SUZ-C	725	758	5.4e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200069

SMART Domains

Protein: ENSMUSP00000143391
Gene: ENSMUSG00000027852

Domain	Start	End	E-Value	Type
RAS	1	166	1.09e-120	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000200457

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (41/42)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This is an N-ras oncogene encoding a membrane protein that shuttles between the Golgi apparatus and the plasma membrane. This shuttling is regulated through palmitoylation and depalmitoylation by the ZDHHC9-GOLGA7 complex. The encoded protein, which has intrinsic GTPase activity, is activated by a guanine nucleotide-exchange factor and inactivated by a GTPase activating protein. Mutations in this gene have been associated with somatic rectal cancer, follicular thyroid cancer, autoimmune lymphoproliferative syndrome, Noonan syndrome, and juvenile myelomonocytic leukemia. [provided by RefSeq, Jun 2011]
PHENOTYPE: Mice homozygous for a targeted mutation are viable and fertile with no gross morphological or histological abnormalities, or defects in peripheral blood cell populations. Mice homozygous for an LTR insertion in intron 1 exhibit weight loss immune defectsand postnatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	A	G	16: 90,852,797 (GRCm39)	F113S	probably damaging	Het
Abcd4	A	G	12: 84,659,190 (GRCm39)	Y189H	probably damaging	Het
Actn1	T	C	12: 80,240,457 (GRCm39)	D210G	possibly damaging	Het
Adam28	C	T	14: 68,844,029 (GRCm39)	V774I	probably benign	Het
Anapc1	A	T	2: 128,500,264 (GRCm39)		probably null	Het
Atg2b	A	T	12: 105,604,170 (GRCm39)	I1577N	probably benign	Het
Bod1l	A	G	5: 41,978,834 (GRCm39)	S827P	possibly damaging	Het
Carmil1	A	T	13: 24,296,011 (GRCm39)	C377S	probably damaging	Het
Cplx4	T	C	18: 66,090,083 (GRCm39)	E112G	possibly damaging	Het
Cyp4f39	C	A	17: 32,711,340 (GRCm39)	R496S	probably damaging	Het
Dmgdh	G	A	13: 93,843,175 (GRCm39)	R337Q	probably damaging	Het
Dnah10	T	C	5: 124,813,895 (GRCm39)	F345S	probably damaging	Het
Dst	A	G	1: 34,268,109 (GRCm39)	R2844G	probably damaging	Het
Fam186a	T	A	15: 99,845,186 (GRCm39)	I353L	unknown	Het
Fam78a	A	G	2: 31,959,345 (GRCm39)	V255A	possibly damaging	Het
Ino80	T	A	2: 119,210,074 (GRCm39)	I1406L	probably benign	Het
Itga11	T	C	9: 62,678,680 (GRCm39)	F949S	probably benign	Het
Jmjd7	G	A	2: 119,860,643 (GRCm39)	A57T	possibly damaging	Het
Krt1c	T	C	15: 101,724,804 (GRCm39)	T269A	probably benign	Het
Lgi4	A	T	7: 30,767,065 (GRCm39)	D364V	probably damaging	Het
Lrp12	T	C	15: 39,735,791 (GRCm39)	T733A	probably damaging	Het
Marchf7	T	A	2: 60,064,670 (GRCm39)	N315K	probably benign	Het
Methig1	A	G	15: 100,251,130 (GRCm39)	I14V	probably benign	Het
Mtmr3	A	T	11: 4,481,223 (GRCm39)	M1K	probably null	Het
Nsd1	A	G	13: 55,425,366 (GRCm39)	T1508A	possibly damaging	Het
Obscn	T	C	11: 59,019,063 (GRCm39)	T917A	probably damaging	Het
Pard6g	T	C	18: 80,090,347 (GRCm39)	V21A	possibly damaging	Het
Pcdha5	T	A	18: 37,094,798 (GRCm39)	W436R	probably benign	Het
Pde4d	T	C	13: 108,996,722 (GRCm39)	V8A	probably benign	Het
Pou4f3	C	T	18: 42,528,339 (GRCm39)	T94M	probably benign	Het
Prdm6	G	T	18: 53,597,758 (GRCm39)		probably benign	Het
Ralgapa1	T	C	12: 55,786,198 (GRCm39)	R674G	probably damaging	Het
Rcc1	A	G	4: 132,061,445 (GRCm39)	S368P	probably damaging	Het
Rcn2	T	A	9: 55,952,485 (GRCm39)	V110E	probably benign	Het
Reep4	T	A	14: 70,783,180 (GRCm39)		probably null	Het
Rrbp1	T	C	2: 143,831,661 (GRCm39)	I169V	probably damaging	Het
Slc2a6	T	C	2: 26,914,347 (GRCm39)	S257G	probably benign	Het
Spag9	A	G	11: 93,982,627 (GRCm39)	R612G	probably damaging	Het
Ssh2	A	G	11: 77,340,434 (GRCm39)	T529A	probably benign	Het
Triobp	A	G	15: 78,851,219 (GRCm39)	S458G	probably benign	Het
Zfp729a	G	T	13: 67,769,481 (GRCm39)	H249Q	probably damaging	Het
Zfp940	A	G	7: 29,544,572 (GRCm39)	I445T	possibly damaging	Het

Other mutations in Nras

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00978:Nras	APN	3	102,966,232 (GRCm39)	utr 5 prime	probably benign
IGL01443:Nras	APN	3	102,969,751 (GRCm39)	missense	probably benign	0.21
IGL03327:Nras	APN	3	102,966,340 (GRCm39)	missense	probably damaging	1.00
R0697:Nras	UTSW	3	102,967,616 (GRCm39)	missense	possibly damaging	0.89
R1688:Nras	UTSW	3	102,967,689 (GRCm39)	missense	probably benign
R1753:Nras	UTSW	3	102,966,295 (GRCm39)	missense	probably damaging	1.00
R2296:Nras	UTSW	3	102,966,350 (GRCm39)	critical splice donor site	probably null
R3977:Nras	UTSW	3	102,967,541 (GRCm39)	missense	probably benign	0.10
R3979:Nras	UTSW	3	102,967,541 (GRCm39)	missense	probably benign	0.10
R6087:Nras	UTSW	3	102,967,637 (GRCm39)	missense	probably damaging	1.00
R6194:Nras	UTSW	3	102,966,269 (GRCm39)	missense	probably damaging	1.00
R8776:Nras	UTSW	3	102,966,176 (GRCm39)	intron	probably benign
R9112:Nras	UTSW	3	102,967,658 (GRCm39)	missense	probably benign	0.31
R9447:Nras	UTSW	3	102,967,673 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- CGCACTCATCTGCAAGGAATG -3'
(R):5'- TCCTCAGTAAGCACGAACTTG -3'

Sequencing Primer
(F):5'- CAAGGAATGCTATGTTTCTGAATCAC -3'
(R):5'- ACTTTCAAAGAGCCGTTATGGG -3'

Posted On

2021-01-18