Mutagenetix > Incidental Mutations

Incidental Mutation 'R0688:Macc1'

61249

Institutional Source

Beutler Lab

Gene Symbol

Macc1

Ensembl Gene

ENSMUSG00000041886

Gene Name

metastasis associated in colon cancer 1

Synonyms

MMRRC Submission

038873-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R0688 (G1)

Quality Score

173

Status

Not validated

Chromosome

Chromosomal Location

119314270-119469987 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119447003 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 502 (V502A)

Ref Sequence

ENSEMBL: ENSMUSP00000152677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048880] [ENSMUST00000221866] [ENSMUST00000221917] [ENSMUST00000222058] [ENSMUST00000222784]

Predicted Effect

probably damaging
Transcript: ENSMUST00000048880
AA Change: V502A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000042955
Gene: ENSMUSG00000041886
AA Change: V502A

Domain	Start	End	E-Value	Type
low complexity region	127	141	N/A	INTRINSIC
Pfam:ZU5	213	307	3.5e-10	PFAM
SH3	551	617	3.74e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000221866
AA Change: V502A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000221917
AA Change: V502A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222058
AA Change: V502A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222784
AA Change: V502A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MACC1 is a key regulator of the hepatocyte growth factor (HGF; MIM 142409)-HGF receptor (HGFR, or MET; MIM 164860) pathway, which is involved in cellular growth, epithelial-mesenchymal transition, angiogenesis, cell motility, invasiveness, and metastasis. Expression of MACC1 in colon cancer (MIM 114500) specimens is an independent prognostic indicator for metastasis formation and metastasis-free survival (Stein et al., 2009 [PubMed 19098908]).[supplied by OMIM, Mar 2009]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	T	G	9: 104,124,100	V615G	probably damaging	Het
Apaf1	T	G	10: 91,061,705	E305D	possibly damaging	Het
Apol10b	A	G	15: 77,585,219	S253P	probably damaging	Het
Bbs9	T	A	9: 22,567,719	C153S	probably damaging	Het
Bicra	C	T	7: 15,989,322	G90D	probably damaging	Het
Clca4a	A	C	3: 144,961,974	L412R	probably damaging	Het
Cul3	A	T	1: 80,271,564	D597E	possibly damaging	Het
Cxcr5	A	G	9: 44,513,667		probably null	Het
Dnah10	T	C	5: 124,747,718	I646T	possibly damaging	Het
Focad	T	A	4: 88,274,213	V593D	unknown	Het
Fsip2	T	A	2: 82,982,339	S3001T	probably benign	Het
Ganab	T	A	19: 8,911,113	Y511N	probably damaging	Het
Gdf9	T	A	11: 53,436,640	L141Q	probably damaging	Het
Gm13083	T	C	4: 143,617,357	F409S	probably benign	Het
Gm4450	T	C	3: 98,456,394	E45G	probably benign	Het
Gpr180	A	G	14: 118,148,184	D136G	probably benign	Het
Itga2	G	T	13: 114,839,554	A1094E	probably benign	Het
Ly75	C	T	2: 60,316,221	A1238T	probably benign	Het
Mroh4	T	C	15: 74,606,678	K923E	probably damaging	Het
Msh3	G	A	13: 92,351,431	P93S	possibly damaging	Het
Myo18a	A	G	11: 77,824,140	D474G	probably damaging	Het
Npat	T	A	9: 53,570,222	Y1077N	probably benign	Het
Olfr1214	A	T	2: 88,987,595	S202R	probably damaging	Het
Olfr427	A	C	1: 174,100,064	H202P	probably damaging	Het
Olfr52	A	T	2: 86,181,605		probably null	Het
Olfr816	T	G	10: 129,911,883	T132P	probably damaging	Het
Paqr5	T	G	9: 61,972,794	T59P	probably benign	Het
Phyhipl	C	T	10: 70,559,255	G329R	probably damaging	Het
Pomgnt1	T	C	4: 116,155,889	Y430H	probably damaging	Het
Prkd3	A	T	17: 78,957,233	M651K	probably damaging	Het
Puf60	A	T	15: 76,070,774	M440K	probably damaging	Het
Recql4	A	G	15: 76,709,809		probably null	Het
Sgk1	A	C	10: 21,998,160	M320L	probably benign	Het
Slc27a4	T	C	2: 29,812,615	F509S	probably damaging	Het
Sorbs1	T	C	19: 40,363,262	T235A	probably damaging	Het
Srrm3	A	G	5: 135,869,276		probably benign	Het
Tex15	C	T	8: 33,573,500	T986I	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Zswim4	T	C	8: 84,228,888	M301V	possibly damaging	Het

Other mutations in Macc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00915:Macc1	APN	12	119447014	missense	probably benign	0.16
IGL01515:Macc1	APN	12	119450371	missense	probably damaging	1.00
IGL01638:Macc1	APN	12	119446511	missense	probably benign	0.00
IGL01653:Macc1	APN	12	119450353	missense	probably damaging	1.00
IGL01982:Macc1	APN	12	119445634	missense	probably benign	0.12
IGL02177:Macc1	APN	12	119465557	missense	probably damaging	1.00
IGL02263:Macc1	APN	12	119446017	missense	possibly damaging	0.87
IGL03199:Macc1	APN	12	119446421	missense	probably benign	0.24
IGL03246:Macc1	APN	12	119446685	missense	probably benign	0.00
IGL03265:Macc1	APN	12	119446976	missense	probably benign	0.00
IGL03306:Macc1	APN	12	119446868	missense	probably benign	0.00
IGL03307:Macc1	APN	12	119446420	missense	probably benign
IGL03386:Macc1	APN	12	119445863	missense	probably benign
PIT4366001:Macc1	UTSW	12	119446949	missense	probably benign	0.01
PIT4431001:Macc1	UTSW	12	119446511	missense	probably benign	0.00
R0033:Macc1	UTSW	12	119446341	missense	probably benign	0.03
R0166:Macc1	UTSW	12	119447080	nonsense	probably null
R0528:Macc1	UTSW	12	119447045	missense	probably benign	0.09
R0725:Macc1	UTSW	12	119447516	nonsense	probably null
R1356:Macc1	UTSW	12	119446555	missense	probably benign	0.00
R1647:Macc1	UTSW	12	119446421	missense	probably benign	0.24
R1648:Macc1	UTSW	12	119446421	missense	probably benign	0.24
R1938:Macc1	UTSW	12	119445731	missense	probably damaging	1.00
R2362:Macc1	UTSW	12	119447658	splice site	probably benign
R2406:Macc1	UTSW	12	119465611	missense	probably damaging	0.99
R3123:Macc1	UTSW	12	119447633	missense	probably damaging	1.00
R3713:Macc1	UTSW	12	119446841	missense	probably benign
R3915:Macc1	UTSW	12	119446816	missense	probably benign	0.13
R5256:Macc1	UTSW	12	119446529	missense	possibly damaging	0.87
R5329:Macc1	UTSW	12	119446477	missense	probably damaging	1.00
R5555:Macc1	UTSW	12	119450375	missense	probably benign	0.24
R5992:Macc1	UTSW	12	119447585	missense	probably damaging	0.96
R6024:Macc1	UTSW	12	119450425	missense	probably benign	0.01
R6064:Macc1	UTSW	12	119445665	missense	probably benign	0.14
R6196:Macc1	UTSW	12	119446050	missense	probably damaging	1.00
R6697:Macc1	UTSW	12	119447256	missense	possibly damaging	0.73
R7046:Macc1	UTSW	12	119447038	missense	probably benign	0.02
R7060:Macc1	UTSW	12	119447455	missense	probably damaging	1.00
R7094:Macc1	UTSW	12	119450391	nonsense	probably null
R7120:Macc1	UTSW	12	119445745	missense	possibly damaging	0.87
R7496:Macc1	UTSW	12	119446999	missense	possibly damaging	0.56
R7534:Macc1	UTSW	12	119447519	missense	probably benign	0.45
R7591:Macc1	UTSW	12	119446658	missense	probably damaging	0.99
R7715:Macc1	UTSW	12	119446256	missense	possibly damaging	0.72
R7823:Macc1	UTSW	12	119447065	missense	probably damaging	0.98
R8121:Macc1	UTSW	12	119446589	missense	probably damaging	0.97
R8157:Macc1	UTSW	12	119445993	missense	probably benign	0.04
R8185:Macc1	UTSW	12	119447159	missense	probably damaging	0.98
R8530:Macc1	UTSW	12	119445739	missense	probably damaging	0.98
R8548:Macc1	UTSW	12	119450356	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- TGGACACAACTATGTGCCAGGAAAG -3'
(R):5'- TCGGAGGACTCCTACGTACCATTC -3'

Sequencing Primer
(F):5'- GTGCCAGGAAAGTTTACAGTCTC -3'
(R):5'- ACTTTGGACTGTCCTATGGC -3'

Posted On

2013-07-30