Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03327:Nras'

416684

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 #

IGL03327

Quality Score

Status

Chromosome

Chromosomal Location

102965643-102975230 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102966340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 35 (T35A)

Ref Sequence

ENSEMBL: ENSMUSP00000143644 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000029445
AA Change: T35A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029445
Gene: ENSMUSG00000027852
AA Change: T35A

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

possibly damaging
Transcript: ENSMUST00000128264
AA Change: T35A

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000196355
AA Change: T35A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142438
Gene: ENSMUSG00000027852
AA Change: T35A

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 damaging
Transcript: ENSMUST00000197678
AA Change: T35A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142603
Gene: ENSMUSG00000027852
AA Change: T35A

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

possibly damaging
Transcript: ENSMUST00000199367
AA Change: T35A

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143620
Gene: ENSMUSG00000027852
AA Change: T35A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200457
AA Change: T35A

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000200069
AA Change: T35A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143391
Gene: ENSMUSG00000027852
AA Change: T35A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000199049
AA Change: T35A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000143644
Gene: ENSMUSG00000027852
AA Change: T35A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197844

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199776

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: 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: 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

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
Adcy8	T	C	15: 64,792,116 (GRCm39)	Y280C	probably damaging	Het
Anapc1	T	C	2: 128,465,854 (GRCm39)	T1647A	probably benign	Het
Ano3	T	C	2: 110,527,523 (GRCm39)	I562V	possibly damaging	Het
Ash1l	C	T	3: 88,930,390 (GRCm39)	P1956S	probably benign	Het
Ccdc9b	T	C	2: 118,592,151 (GRCm39)	N79S	probably damaging	Het
Cd160	C	T	3: 96,712,849 (GRCm39)		probably null	Het
Chd3	G	T	11: 69,241,012 (GRCm39)	A1527E	probably damaging	Het
Clcn1	C	T	6: 42,288,153 (GRCm39)	T797I	probably benign	Het
Cntnap3	G	A	13: 65,035,582 (GRCm39)	Q44*	probably null	Het
Cntnap4	A	G	8: 113,500,208 (GRCm39)	D500G	probably benign	Het
Col6a6	T	C	9: 105,644,433 (GRCm39)	D1285G	possibly damaging	Het
Cr2	A	T	1: 194,852,067 (GRCm39)	V94E	probably damaging	Het
Dcaf1	T	C	9: 106,735,823 (GRCm39)	S924P	possibly damaging	Het
Eif5b	T	C	1: 38,080,772 (GRCm39)		probably benign	Het
Fat1	A	C	8: 45,403,505 (GRCm39)	K85N	probably damaging	Het
Fnip2	T	C	3: 79,425,388 (GRCm39)	E69G	probably damaging	Het
Fzr1	T	C	10: 81,205,018 (GRCm39)	T300A	probably benign	Het
Galc	A	G	12: 98,173,735 (GRCm39)		probably benign	Het
Gm17079	T	C	14: 51,930,420 (GRCm39)	T142A	possibly damaging	Het
Hibch	G	A	1: 52,959,539 (GRCm39)		probably benign	Het
Hmmr	A	G	11: 40,606,242 (GRCm39)	C243R	probably damaging	Het
Il25	T	C	14: 55,172,817 (GRCm39)		probably benign	Het
Kif5b	G	A	18: 6,222,767 (GRCm39)	R355W	probably damaging	Het
Kifc3	C	T	8: 95,835,060 (GRCm39)	D242N	probably damaging	Het
Lig1	T	G	7: 13,037,781 (GRCm39)	I677S	probably damaging	Het
Lrig1	G	T	6: 94,583,104 (GRCm39)	A1004E	probably benign	Het
Nt5c1b	C	T	12: 10,424,861 (GRCm39)	Q136*	probably null	Het
Or4f54	A	T	2: 111,122,807 (GRCm39)	N65Y	probably damaging	Het
Or6c217	T	G	10: 129,738,451 (GRCm39)	I43L	possibly damaging	Het
Or8k1	C	T	2: 86,047,618 (GRCm39)	W145*	probably null	Het
Plcb3	A	G	19: 6,932,420 (GRCm39)	F1080L	probably benign	Het
Plpp2	T	C	10: 79,366,818 (GRCm39)		probably null	Het
Ptpre	G	A	7: 135,274,551 (GRCm39)		probably null	Het
Scn3a	G	A	2: 65,367,016 (GRCm39)	A2V	probably damaging	Het
Sh3bp4	C	A	1: 89,071,885 (GRCm39)	Y244*	probably null	Het
Trip11	A	T	12: 101,849,677 (GRCm39)	N1462K	possibly damaging	Het
Ttc21b	T	C	2: 66,068,192 (GRCm39)	D278G	possibly damaging	Het
Virma	A	G	4: 11,518,984 (GRCm39)	T694A	probably benign	Het
Wdr35	T	C	12: 9,028,694 (GRCm39)		probably benign	Het
Xdh	T	C	17: 74,223,787 (GRCm39)	E535G	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
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

2016-08-02