Mutagenetix > Incidental Mutation

Incidental Mutation 'R7651:Hras'

590838

Institutional Source

Beutler Lab

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

MMRRC Submission

045728-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7651 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140770839-140773938 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140772064 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 144 (T144A)

Ref Sequence

ENSEMBL: ENSMUSP00000026572 (fasta)

Gene Model

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

AlphaFold

Q61411

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026572
AA Change: T144A

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000026572
Gene: ENSMUSG00000025499
AA Change: T144A

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: T144A

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000095570
Gene: ENSMUSG00000025499
AA Change: T144A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124314
AA Change: T144A

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000124971

SMART Domains

Protein: ENSMUSP00000138189
Gene: ENSMUSG00000025499

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

Predicted Effect

probably benign
Transcript: ENSMUST00000134008

Predicted Effect

probably benign
Transcript: ENSMUST00000144008

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168550
AA Change: T144A

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000132110
Gene: ENSMUSG00000025499
AA Change: T144A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000209220

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	T	G	11: 58,184,188 (GRCm39)	V302G		Het
A230072I06Rik	T	C	8: 12,329,689 (GRCm39)	I48T	unknown	Het
Ada	T	A	2: 163,574,275 (GRCm39)	D127V	probably damaging	Het
Alb	G	C	5: 90,615,214 (GRCm39)	R242P	probably damaging	Het
Ankrd34c	T	C	9: 89,611,463 (GRCm39)	R293G	possibly damaging	Het
Ap2b1	T	C	11: 83,230,256 (GRCm39)		probably null	Het
Arhgef16	A	G	4: 154,375,524 (GRCm39)	S157P	probably damaging	Het
Atp2b1	C	T	10: 98,852,830 (GRCm39)	L1036F	probably damaging	Het
Ccdc27	A	T	4: 154,112,556 (GRCm39)	I573N	probably damaging	Het
Cep164	T	C	9: 45,685,150 (GRCm39)	E869G	probably benign	Het
Colq	A	T	14: 31,250,292 (GRCm39)	V381D	possibly damaging	Het
Drc1	A	G	5: 30,516,958 (GRCm39)	E519G	probably benign	Het
Drosha	G	A	15: 12,859,522 (GRCm39)	V577I	probably benign	Het
Epg5	C	T	18: 78,024,615 (GRCm39)	Q1157*	probably null	Het
Eqtn	T	C	4: 94,811,944 (GRCm39)	S150G	possibly damaging	Het
Fam110d	C	T	4: 133,978,959 (GRCm39)	R173H	probably damaging	Het
Fam216a	G	A	5: 122,505,445 (GRCm39)	H172Y	probably damaging	Het
Fbxw19	T	A	9: 109,323,714 (GRCm39)	D87V	probably damaging	Het
Fgr	A	T	4: 132,722,324 (GRCm39)	I198F	probably damaging	Het
Flnc	A	G	6: 29,444,049 (GRCm39)	D621G	probably benign	Het
Flt3	A	C	5: 147,291,732 (GRCm39)	Y573D	probably damaging	Het
Git2	A	T	5: 114,871,296 (GRCm39)	I603N	probably damaging	Het
Gm4559	C	T	7: 141,827,553 (GRCm39)	R183K	unknown	Het
Gnb5	T	C	9: 75,250,853 (GRCm39)	F326L	probably damaging	Het
Grm8	A	T	6: 27,760,257 (GRCm39)	W358R	possibly damaging	Het
Hoxa3	A	G	6: 52,149,253 (GRCm39)	V126A	unknown	Het
Hyal1	G	A	9: 107,455,569 (GRCm39)	R293H	probably damaging	Het
Ifnlr1	A	G	4: 135,417,919 (GRCm39)	S49G	possibly damaging	Het
Ighv8-11	C	A	12: 115,531,005 (GRCm39)	C41F	probably benign	Het
Jakmip1	A	G	5: 37,291,617 (GRCm39)	T689A	probably damaging	Het
Kcnb1	T	C	2: 167,030,281 (GRCm39)	H88R	probably damaging	Het
Kcnt2	T	A	1: 140,498,199 (GRCm39)	M892K	probably benign	Het
Lrba	C	A	3: 86,648,773 (GRCm39)	S2507*	probably null	Het
Mbp	C	T	18: 82,572,499 (GRCm39)	T65I	probably damaging	Het
Muc2	A	T	7: 141,290,750 (GRCm39)	Y12F		Het
Muc4	T	A	16: 32,576,949 (GRCm39)	S80T		Het
Muc5ac	A	G	7: 141,349,991 (GRCm39)	D579G	possibly damaging	Het
Muc5b	A	G	7: 141,417,760 (GRCm39)	T3569A	possibly damaging	Het
Myb	C	T	10: 21,032,273 (GRCm39)	R36H	probably damaging	Het
Myo6	T	C	9: 80,171,548 (GRCm39)		probably null	Het
Ogfod1	T	C	8: 94,763,981 (GRCm39)	V22A	probably benign	Het
Orai3	A	G	7: 127,373,236 (GRCm39)	I246V	probably damaging	Het
Otog	A	G	7: 45,891,185 (GRCm39)	M68V	probably benign	Het
Pcdh20	T	A	14: 88,706,589 (GRCm39)	D237V	probably damaging	Het
Pcdhb18	T	C	18: 37,624,046 (GRCm39)	F459L	probably benign	Het
Pik3c2g	C	T	6: 139,599,070 (GRCm39)	T62M	possibly damaging	Het
Plaa	T	C	4: 94,470,876 (GRCm39)	Y420C	probably damaging	Het
Ppp1r9b	C	T	11: 94,892,768 (GRCm39)	A656V	probably benign	Het
Pramel39-ps	T	C	5: 94,451,236 (GRCm39)	T297A	probably benign	Het
Prg4	T	A	1: 150,330,696 (GRCm39)	E659V	unknown	Het
Prlhr	C	A	19: 60,455,583 (GRCm39)	A328S	probably benign	Het
Prlr	A	T	15: 10,328,464 (GRCm39)	D313V	probably benign	Het
Prune2	C	T	19: 17,097,772 (GRCm39)	T1092I	probably damaging	Het
Psme4	T	A	11: 30,787,334 (GRCm39)	L1043H	probably damaging	Het
Ptprr	T	C	10: 116,087,084 (GRCm39)	V521A	probably benign	Het
Rab44	A	T	17: 29,367,179 (GRCm39)	D703V	unknown	Het
Rpl9-ps1	A	T	11: 83,535,911 (GRCm39)	Y179*	probably null	Het
Scg3	T	A	9: 75,589,332 (GRCm39)	N107I	probably benign	Het
Sh3bgrl2	T	C	9: 83,430,525 (GRCm39)	V5A	possibly damaging	Het
Slc7a12	T	C	3: 14,546,509 (GRCm39)	V218A	probably benign	Het
Sorcs2	A	G	5: 36,185,322 (GRCm39)	L918P	probably damaging	Het
Sox1	C	A	8: 12,446,686 (GRCm39)	A109E	probably damaging	Het
Syne1	T	A	10: 5,155,074 (GRCm39)	M5622L	probably benign	Het
Syne1	A	T	10: 5,293,416 (GRCm39)	L1305Q	probably damaging	Het
Tacc2	A	T	7: 130,224,884 (GRCm39)	H523L	probably benign	Het
Tas1r2	A	T	4: 139,396,938 (GRCm39)	D788V	probably benign	Het
Tcl1b5	T	A	12: 105,142,694 (GRCm39)	D7E	possibly damaging	Het
Tesc	A	G	5: 118,194,666 (GRCm39)	D159G	possibly damaging	Het
Tm2d2	G	T	8: 25,507,316 (GRCm39)		probably benign	Het
Tnfrsf11a	T	A	1: 105,737,171 (GRCm39)	C93S	probably damaging	Het
Tnfsf4	T	C	1: 161,244,593 (GRCm39)	V94A	probably benign	Het
Trav13n-3	T	A	14: 53,574,964 (GRCm39)	Y69N	probably benign	Het
Utp20	T	C	10: 88,590,457 (GRCm39)	D2339G	probably benign	Het
Vmn1r225	A	G	17: 20,722,611 (GRCm39)	I17M	possibly damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r114	G	T	17: 23,509,986 (GRCm39)	Y831*	probably null	Het
Vmn2r72	T	A	7: 85,401,146 (GRCm39)	N91I	probably damaging	Het
Zfp846	T	C	9: 20,499,808 (GRCm39)	S13P	possibly damaging	Het
Zfp934	G	T	13: 62,666,327 (GRCm39)	N116K	probably benign	Het

Other mutations in Hras

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Hras	APN	7	140,772,783 (GRCm39)	missense	possibly damaging	0.84
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

Predicted Primers

PCR Primer
(F):5'- GGGAGACTTACAGCTTGAGG -3'
(R):5'- ATGTCCTGGACACAGTCATG -3'

Sequencing Primer
(F):5'- TTACAGCTTGAGGGCCGCTG -3'
(R):5'- TGGACACAGTCATGCCTGCAG -3'

Posted On

2019-10-24