Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01443:Nras'

84319

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nras

Ensembl Gene

ENSMUSG00000027852

Gene Name

neuroblastoma ras oncogene

Synonyms

N-ras

Accession Numbers

Essential gene?

Probably essential (E-score: 0.766) question?

Stock #

IGL01443

Quality Score

Status

Chromosome

Chromosomal Location

102965643-102975230 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102969751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 118 (C118S)

Ref Sequence

ENSEMBL: ENSMUSP00000143644 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029445
AA Change: C118S

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000029445
Gene: ENSMUSG00000027852
AA Change: C118S

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
AA Change: C118S

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000142438
Gene: ENSMUSG00000027852
AA Change: C118S

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
AA Change: C118S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000142603
Gene: ENSMUSG00000027852
AA Change: C118S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000198174

Predicted Effect

probably benign
Transcript: ENSMUST00000200069
AA Change: C118S

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000143391
Gene: ENSMUSG00000027852
AA Change: C118S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000199049
AA Change: C118S

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143644
Gene: ENSMUSG00000027852
AA Change: C118S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199776

Predicted Effect

probably benign
Transcript: ENSMUST00000200457

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: 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: 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: 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: ENSMUST00000199367

SMART Domains

Protein: ENSMUSP00000143620
Gene: ENSMUSG00000027852

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

Coding Region Coverage

Validation Efficiency

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
Adamts2	A	G	11: 50,694,690 (GRCm39)	E1159G	possibly damaging	Het
Adgrl3	A	G	5: 81,613,134 (GRCm39)	Y189C	probably damaging	Het
AW554918	G	A	18: 25,478,012 (GRCm39)	G446R	probably damaging	Het
Baiap3	A	G	17: 25,464,121 (GRCm39)	F884S	possibly damaging	Het
Cd101	T	C	3: 100,910,887 (GRCm39)	T924A	probably benign	Het
Cdk12	T	A	11: 98,136,295 (GRCm39)	V1183E	unknown	Het
Clcc1	T	C	3: 108,578,219 (GRCm39)	M240T	probably benign	Het
Dnmbp	C	A	19: 43,891,309 (GRCm39)	A153S	probably damaging	Het
Dus4l	T	C	12: 31,702,409 (GRCm39)		probably benign	Het
Dyrk1a	A	G	16: 94,485,943 (GRCm39)	E430G	probably benign	Het
Erc1	T	C	6: 119,801,432 (GRCm39)	K195R	probably damaging	Het
Evpl	T	C	11: 116,113,280 (GRCm39)	E1470G	probably damaging	Het
Extl3	A	T	14: 65,314,919 (GRCm39)	S88T	probably damaging	Het
Fam135b	A	T	15: 71,335,213 (GRCm39)	H660Q	probably benign	Het
Fat1	G	A	8: 45,493,613 (GRCm39)	G3920S	probably damaging	Het
Fbxo38	A	G	18: 62,666,741 (GRCm39)	V144A	probably damaging	Het
Grwd1	C	T	7: 45,479,834 (GRCm39)		probably null	Het
Hdlbp	T	C	1: 93,358,796 (GRCm39)	T252A	probably damaging	Het
Igkv3-1	A	G	6: 70,681,088 (GRCm39)	S96G	possibly damaging	Het
Igkv4-68	G	T	6: 69,281,921 (GRCm39)	F83L	probably damaging	Het
Klhl31	T	C	9: 77,557,542 (GRCm39)	V86A	possibly damaging	Het
Lypd3	G	A	7: 24,336,063 (GRCm39)	G17R	probably benign	Het
Manba	T	A	3: 135,250,589 (GRCm39)	D405E	probably damaging	Het
Map3k19	A	G	1: 127,766,244 (GRCm39)	S227P	probably benign	Het
Or52n20	A	G	7: 104,320,278 (GRCm39)	D123G	probably damaging	Het
Pde8a	T	C	7: 80,973,929 (GRCm39)	F629L	probably damaging	Het
Phtf2	A	G	5: 20,987,265 (GRCm39)		probably benign	Het
Pik3c2a	A	T	7: 116,017,429 (GRCm39)	F109L	probably benign	Het
Plod3	G	A	5: 137,019,075 (GRCm39)	R320H	probably benign	Het
Ppib	T	C	9: 65,972,879 (GRCm39)	F152L	probably damaging	Het
Rbm19	T	C	5: 120,281,503 (GRCm39)		probably benign	Het
Rgs12	T	A	5: 35,132,563 (GRCm39)	S628R	probably benign	Het
Ripk1	A	G	13: 34,199,251 (GRCm39)	D201G	probably damaging	Het
Speer4c2	A	G	5: 15,857,642 (GRCm39)	*212Q	probably null	Het
St14	G	T	9: 31,011,489 (GRCm39)	S434*	probably null	Het
Tbc1d9	A	G	8: 83,966,560 (GRCm39)	D387G	probably damaging	Het
Trio	A	G	15: 27,838,861 (GRCm39)		probably benign	Het
Ttn	G	A	2: 76,544,215 (GRCm39)	R32924C	probably damaging	Het
Vmn1r181	T	C	7: 23,684,006 (GRCm39)	V157A	possibly damaging	Het
Zfp473	C	T	7: 44,388,987 (GRCm39)	D45N	probably 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
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
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

Posted On

2013-11-11