Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00516:Hras'

5095

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hras

Ensembl Gene

ENSMUSG00000025499

Gene Name

Harvey rat sarcoma virus oncogene

Synonyms

Harvey-ras, Ha-ras, Hras-1, Hras1, c-H-ras, c-rasHa, H-ras

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00516

Quality Score

Status

Chromosome

Chromosomal Location

140770839-140773938 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140772783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 24 (I24T)

Ref Sequence

ENSEMBL: ENSMUSP00000132110 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026572] [ENSMUST00000047093] [ENSMUST00000070458] [ENSMUST00000084446] [ENSMUST00000097957] [ENSMUST00000124314] [ENSMUST00000124971] [ENSMUST00000168550] [ENSMUST00000144008] [ENSMUST00000209220]

AlphaFold

Q61411

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026572
AA Change: I24T

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000026572
Gene: ENSMUSG00000025499
AA Change: I24T

Domain	Start	End	E-Value	Type
RAS	1	166	1.12e-122	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000047093

SMART Domains

Protein: ENSMUSP00000048691
Gene: ENSMUSG00000038637

Domain	Start	End	E-Value	Type
low complexity region	59	71	N/A	INTRINSIC
Pfam:LRR_4	138	177	9.1e-8	PFAM
LRRcap	212	230	4.44e-1	SMART
low complexity region	294	310	N/A	INTRINSIC
low complexity region	390	404	N/A	INTRINSIC
low complexity region	449	458	N/A	INTRINSIC
low complexity region	474	496	N/A	INTRINSIC
low complexity region	523	536	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000070458

SMART Domains

Protein: ENSMUSP00000063912
Gene: ENSMUSG00000038637

Domain	Start	End	E-Value	Type
low complexity region	59	71	N/A	INTRINSIC
Pfam:LRR_7	116	132	4e-2	PFAM
Pfam:LRR_8	116	171	8.7e-8	PFAM
Pfam:LRR_4	117	158	7.2e-11	PFAM
Pfam:LRR_1	139	159	2.9e-2	PFAM
LRRcap	212	230	4.44e-1	SMART
low complexity region	294	310	N/A	INTRINSIC
low complexity region	390	404	N/A	INTRINSIC
low complexity region	449	458	N/A	INTRINSIC
low complexity region	474	496	N/A	INTRINSIC
low complexity region	523	536	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000084446

SMART Domains

Protein: ENSMUSP00000081486
Gene: ENSMUSG00000038637

Domain	Start	End	E-Value	Type
low complexity region	59	71	N/A	INTRINSIC
Pfam:LRR_7	116	132	3.5e-2	PFAM
Pfam:LRR_8	116	171	6.9e-8	PFAM
Pfam:LRR_4	117	158	6.7e-11	PFAM
Pfam:LRR_6	136	160	5.9e-2	PFAM
Pfam:LRR_1	139	159	2.6e-2	PFAM
Pfam:LRR_6	157	182	4.1e-2	PFAM
Pfam:LRR_1	161	199	5.9e-2	PFAM
LRRcap	212	230	4.44e-1	SMART
low complexity region	294	310	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097957
AA Change: I24T

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095570
Gene: ENSMUSG00000025499
AA Change: I24T

Domain	Start	End	E-Value	Type
RAS	1	166	1.12e-122	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124314
AA Change: I24T

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124971
AA Change: I24T

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138189
Gene: ENSMUSG00000025499
AA Change: I24T

Domain	Start	End	E-Value	Type
RAS	1	108	4.18e-49	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168550
AA Change: I24T

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132110
Gene: ENSMUSG00000025499
AA Change: I24T

Domain	Start	End	E-Value	Type
RAS	1	158	4.97e-106	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144008

Predicted Effect

probably benign
Transcript: ENSMUST00000209220

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144199

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150141

Predicted Effect

probably benign
Transcript: ENSMUST00000134008

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128993

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the Ras oncogene family, whose members are related to the transforming genes of mammalian sarcoma retroviruses. The products encoded by these genes function in signal transduction pathways. These proteins can bind GTP and GDP, and they have intrinsic GTPase activity. This protein undergoes a continuous cycle of de- and re-palmitoylation, which regulates its rapid exchange between the plasma membrane and the Golgi apparatus. Mutations in this gene cause Costello syndrome, a disease characterized by increased growth at the prenatal stage, growth deficiency at the postnatal stage, predisposition to tumor formation, mental retardation, skin and musculoskeletal abnormalities, distinctive facial appearance and cardiovascular abnormalities. Defects in this gene are implicated in a variety of cancers, including bladder cancer, follicular thyroid cancer, and oral squamous cell carcinoma. Multiple transcript variants, which encode different isoforms, have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted null mutations are viable and fertile with no gross morphological or histological abnormalities, defects in neuronal development or defects in lymphocyte cell populations. A decreased susceptibility to DMBA induced skin papillomas was also demonstrated. [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
5730455P16Rik	T	C	11: 80,267,638 (GRCm39)	D91G	possibly damaging	Het
Abcc1	T	A	16: 14,231,176 (GRCm39)	L438*	probably null	Het
Asph	A	T	4: 9,639,322 (GRCm39)	N14K	probably damaging	Het
Baz1b	T	C	5: 135,245,444 (GRCm39)	Y298H	probably damaging	Het
Ccdc66	A	T	14: 27,220,413 (GRCm39)	W267R	probably damaging	Het
Cd81	A	C	7: 142,620,901 (GRCm39)	K193N	probably damaging	Het
Cdkn1a	C	A	17: 29,317,494 (GRCm39)	A38E	possibly damaging	Het
Cflar	T	C	1: 58,771,469 (GRCm39)	I199T	probably benign	Het
Cmya5	A	G	13: 93,234,675 (GRCm39)	S138P	possibly damaging	Het
Cnot1	T	C	8: 96,452,707 (GRCm39)	N2123S	probably damaging	Het
Crybg3	A	G	16: 59,350,803 (GRCm39)	S846P	probably benign	Het
Cyp2d9	A	G	15: 82,339,295 (GRCm39)	I21M	probably benign	Het
Ddx41	T	C	13: 55,680,280 (GRCm39)	T371A	probably damaging	Het
Dnhd1	A	T	7: 105,306,418 (GRCm39)	I425F	possibly damaging	Het
Dsc1	T	C	18: 20,234,943 (GRCm39)	D237G	probably damaging	Het
Emc1	T	C	4: 139,082,393 (GRCm39)		probably benign	Het
Epc1	T	A	18: 6,450,515 (GRCm39)	D367V	probably damaging	Het
Glp1r	A	G	17: 31,144,532 (GRCm39)	Y235C	probably damaging	Het
Helb	A	G	10: 119,941,329 (GRCm39)	V453A	probably damaging	Het
Hsf2	A	T	10: 57,388,124 (GRCm39)	I423L	probably benign	Het
Igkv2-109	T	A	6: 68,280,054 (GRCm39)	S92T	probably benign	Het
Kiss1r	G	A	10: 79,754,550 (GRCm39)	A15T	possibly damaging	Het
Krt79	T	C	15: 101,848,601 (GRCm39)	S17G	probably damaging	Het
Lrrc14b	T	C	13: 74,509,078 (GRCm39)	D443G	probably damaging	Het
Map4k4	T	A	1: 40,053,762 (GRCm39)	V953E	probably damaging	Het
Mybpc2	G	A	7: 44,154,829 (GRCm39)		probably benign	Het
Nadsyn1	T	C	7: 143,366,530 (GRCm39)	E173G	probably damaging	Het
Neurl4	C	T	11: 69,801,219 (GRCm39)	R1199W	probably damaging	Het
Otog	T	A	7: 45,900,706 (GRCm39)	V333E	probably damaging	Het
Pdcd2l	A	T	7: 33,884,246 (GRCm39)		probably null	Het
Plagl1	A	G	10: 13,003,616 (GRCm39)		probably benign	Het
Rbm34	T	C	8: 127,696,736 (GRCm39)	N122S	probably benign	Het
Shank2	A	G	7: 143,964,512 (GRCm39)	K917E	possibly damaging	Het
Slc17a8	T	C	10: 89,427,157 (GRCm39)	K315E	possibly damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Sytl2	A	G	7: 90,022,113 (GRCm39)	T183A	probably benign	Het
Tnik	T	A	3: 28,708,367 (GRCm39)	I1067N	probably damaging	Het
Tpd52l2	A	G	2: 181,154,861 (GRCm39)	D192G	probably damaging	Het
Trhde	A	T	10: 114,282,104 (GRCm39)	I791N	probably benign	Het
Ttc28	A	T	5: 111,373,554 (GRCm39)	N966Y	probably damaging	Het
Vps13b	A	T	15: 35,640,703 (GRCm39)	D1356V	probably damaging	Het
Zmym2	A	G	14: 57,185,394 (GRCm39)		probably benign	Het

Other mutations in Hras

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5330:Hras	UTSW	7	140,772,853 (GRCm39)	start codon destroyed	probably null	0.91
R5331:Hras	UTSW	7	140,772,853 (GRCm39)	start codon destroyed	probably null	0.91
R5453:Hras	UTSW	7	140,772,768 (GRCm39)	missense	probably damaging	1.00
R5924:Hras	UTSW	7	140,772,374 (GRCm39)	missense	possibly damaging	0.86
R7651:Hras	UTSW	7	140,772,064 (GRCm39)	missense	possibly damaging	0.66

Posted On

2012-04-20