Mutagenetix > Incidental Mutation

Incidental Mutation 'R2362:Macc1'

247193

Institutional Source

Beutler Lab

Gene Symbol

Macc1

Ensembl Gene

ENSMUSG00000041886

Gene Name

metastasis associated in colon cancer 1

Synonyms

MMRRC Submission

040343-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R2362 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119314270-119469987 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 119447658 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152677 (fasta)

Gene Model

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

AlphaFold

E9PXX8

Predicted Effect

probably benign
Transcript: ENSMUST00000048880

SMART Domains

Protein: ENSMUSP00000042955
Gene: ENSMUSG00000041886

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 benign
Transcript: ENSMUST00000221866

Predicted Effect

probably benign
Transcript: ENSMUST00000221917

Predicted Effect

probably benign
Transcript: ENSMUST00000222058

Predicted Effect

probably benign
Transcript: ENSMUST00000222784

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

100% (35/35)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	A	T	6: 132,627,479	M1K	probably null	Het
Aadat	A	G	8: 60,532,298		probably benign	Het
Acsm5	T	C	7: 119,528,426		probably benign	Het
Avl9	A	T	6: 56,736,570	N271I	probably benign	Het
Ccdc30	T	A	4: 119,324,056	N636I	probably damaging	Het
Cdr2	T	G	7: 120,970,331	I62L	possibly damaging	Het
Clk3	T	C	9: 57,754,619	I382V	possibly damaging	Het
Ctsr	T	A	13: 61,162,796	E45V	probably damaging	Het
Cyp2b19	A	G	7: 26,764,377	Y318C	probably damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dapk1	A	G	13: 60,730,931	N578S	probably damaging	Het
Dlg5	A	T	14: 24,158,687	M817K	probably benign	Het
Dtx4	A	G	19: 12,492,535	V76A	probably damaging	Het
Eps15	T	C	4: 109,361,230	V430A	probably benign	Het
Fam160b2	A	G	14: 70,586,365	Y568H	probably benign	Het
Fxyd5	T	C	7: 31,036,471	N104S	probably benign	Het
Gm5155	T	G	7: 17,902,473		noncoding transcript	Het
Ift122	A	G	6: 115,884,350	D193G	probably damaging	Het
Lrrcc1	A	G	3: 14,563,024	E542G	probably damaging	Het
Ndst3	T	A	3: 123,552,678	Y234F	possibly damaging	Het
Olfr1477	A	T	19: 13,502,508	H55L	probably damaging	Het
Pes1	T	C	11: 3,977,123	F429S	probably damaging	Het
Polr3e	C	G	7: 120,942,564	D623E	probably damaging	Het
Rapgef6	T	C	11: 54,694,272	Y1494H	probably damaging	Het
Rbm14	T	C	19: 4,801,707		probably benign	Het
Rnf103	A	G	6: 71,510,017	D544G	probably benign	Het
Slc10a7	A	G	8: 78,509,632	I20V	probably damaging	Het
Sort1	C	T	3: 108,346,665	T549I	possibly damaging	Het
Stambpl1	G	A	19: 34,236,354	V328I	probably benign	Het
Thbd	A	G	2: 148,406,364	L528P	probably damaging	Het
Wbp11	A	T	6: 136,824,332	M63K	probably damaging	Het
Wdr11	T	A	7: 129,634,836	I1178N	probably benign	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
R0688:Macc1	UTSW	12	119447003	missense	probably damaging	0.96
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
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
R8713:Macc1	UTSW	12	119443526	critical splice donor site	probably benign
R8772:Macc1	UTSW	12	119447485	missense	probably damaging	1.00
R8825:Macc1	UTSW	12	119445852	missense	probably benign	0.19
R9018:Macc1	UTSW	12	119446206	missense	possibly damaging	0.73
R9093:Macc1	UTSW	12	119446826	missense	probably benign	0.04
R9126:Macc1	UTSW	12	119445976	missense	probably benign	0.02
R9147:Macc1	UTSW	12	119450356	missense	possibly damaging	0.92
R9148:Macc1	UTSW	12	119450356	missense	possibly damaging	0.92
R9473:Macc1	UTSW	12	119334255	intron	probably benign
R9769:Macc1	UTSW	12	119443506	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCCTTGCCATTTAAAAGTCTG -3'
(R):5'- CACCTCTTAGTTCATGAATCCAAAGC -3'

Sequencing Primer
(F):5'- CCTTGGTGTCAGAAAAAGTTCACGAC -3'
(R):5'- TGAATCCAAAGCTATGACCTTGC -3'

Posted On

2014-10-30