Mutagenetix > Incidental Mutation

Incidental Mutation 'R8776:Nras'

686564

Institutional Source

Beutler Lab

Gene Symbol

Nras

Ensembl Gene

ENSMUSG00000027852

Gene Name

neuroblastoma ras oncogene

Synonyms

N-ras

MMRRC Submission

068629-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.766) question?

Stock #

R8776 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102965643-102975230 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 102966176 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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (42/42)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	A	G	2: 35,245,002 (GRCm39)	Y117H	probably benign	Het
a	A	G	2: 154,892,612 (GRCm39)	D97G	probably damaging	Het
Cdca7l	T	C	12: 117,836,098 (GRCm39)	S190P	probably damaging	Het
Chst9	T	A	18: 15,586,086 (GRCm39)	Y159F	possibly damaging	Het
Col26a1	G	A	5: 136,911,708 (GRCm39)	R52C	probably damaging	Het
Dchs2	A	T	3: 83,263,701 (GRCm39)	D3323V	possibly damaging	Het
Dennd11	T	C	6: 40,395,775 (GRCm39)		probably benign	Het
Dqx1	T	A	6: 83,035,619 (GRCm39)	I44N	probably damaging	Het
Edc4	A	G	8: 106,613,992 (GRCm39)	D415G	probably damaging	Het
Enpp3	T	A	10: 24,650,733 (GRCm39)	D801V	probably damaging	Het
Fam13b	G	A	18: 34,584,446 (GRCm39)	R573C	probably damaging	Het
Fgfr2	A	T	7: 129,798,002 (GRCm39)	I415N	possibly damaging	Het
Gm32742	T	A	9: 51,067,230 (GRCm39)	M366L	probably benign	Het
Gm49336	A	T	14: 60,457,515 (GRCm39)	S563T	possibly damaging	Het
Gm5475	T	C	15: 100,324,892 (GRCm39)	F107L	unknown	Het
Lamp3	T	C	16: 19,474,252 (GRCm39)	D374G	probably damaging	Het
Lin9	T	C	1: 180,496,450 (GRCm39)		probably null	Het
Mef2d	T	C	3: 88,074,956 (GRCm39)	S381P	probably benign	Het
Mfsd9	A	G	1: 40,812,915 (GRCm39)	*467Q	probably null	Het
Mpo	A	G	11: 87,693,538 (GRCm39)	I639V	possibly damaging	Het
Mrgprh	T	C	17: 13,096,375 (GRCm39)	I205T	probably benign	Het
Ncapd2	T	C	6: 125,154,476 (GRCm39)	D580G	probably benign	Het
Nkain4	T	A	2: 180,585,920 (GRCm39)	I48F	probably damaging	Het
Notch4	C	A	17: 34,806,579 (GRCm39)	R1839S	probably damaging	Het
Nr6a1	A	G	2: 38,650,244 (GRCm39)	Y129H	probably damaging	Het
Or7g19	T	A	9: 18,856,286 (GRCm39)	I114N	possibly damaging	Het
Robo1	G	T	16: 72,821,141 (GRCm39)	E1294*	probably null	Het
Septin8	A	G	11: 53,428,343 (GRCm39)	K331R	probably benign	Het
Shmt2	A	G	10: 127,356,785 (GRCm39)		probably null	Het
Skint6	A	C	4: 112,661,885 (GRCm39)	L1233R	possibly damaging	Het
Slc41a3	A	T	6: 90,621,165 (GRCm39)	T402S	probably benign	Het
Slc9a2	A	G	1: 40,781,889 (GRCm39)	T373A	probably damaging	Het
Spata31d1b	T	C	13: 59,863,283 (GRCm39)	C144R	probably benign	Het
Syne1	A	G	10: 5,181,783 (GRCm39)	V4184A	possibly damaging	Het
Tenm4	G	A	7: 96,544,239 (GRCm39)	R2122H	probably damaging	Het
Tlnrd1	A	T	7: 83,532,316 (GRCm39)	D38E	probably benign	Het
Tnnc2	C	T	2: 164,620,135 (GRCm39)	A6T	probably benign	Het
Usp9y	A	G	Y: 1,356,320 (GRCm39)	V1127A	probably benign	Het
Ylpm1	T	C	12: 85,077,195 (GRCm39)	Y1307H	probably damaging	Het
Zfp266	T	C	9: 20,411,509 (GRCm39)	S223G	probably benign	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
R8469:Nras	UTSW	3	102,966,217 (GRCm39)	splice site	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

Posted On

2021-11-03