Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02263:Macc1'

286821

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Macc1

Ensembl Gene

ENSMUSG00000041886

Gene Name

metastasis associated in colon cancer 1

Synonyms

4732474O15Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

IGL02263

Quality Score

Status

Chromosome

Chromosomal Location

119354133-119430669 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 119409752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 173 (N173K)

Ref Sequence

ENSEMBL: ENSMUSP00000152677 (fasta)

Gene Model

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

AlphaFold

E9PXX8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048880
AA Change: N173K

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000042955
Gene: ENSMUSG00000041886
AA Change: N173K

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

possibly damaging
Transcript: ENSMUST00000221866
AA Change: N173K

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000221917
AA Change: N173K

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222058
AA Change: N173K

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222784
AA Change: N173K

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff3	A	G	1: 38,574,680 (GRCm39)	V100A	probably damaging	Het
Agmo	T	A	12: 37,407,696 (GRCm39)	N193K	probably damaging	Het
Dnah8	A	G	17: 30,948,139 (GRCm39)	I1910V	probably benign	Het
Dsg2	T	A	18: 20,723,077 (GRCm39)	S368T	possibly damaging	Het
Eif2ak4	A	G	2: 118,292,259 (GRCm39)	T1270A	probably benign	Het
Ina	T	C	19: 47,003,926 (GRCm39)	S245P	probably damaging	Het
Katnb1	A	G	8: 95,816,703 (GRCm39)	K96R	probably damaging	Het
Kcnj4	A	G	15: 79,369,988 (GRCm39)		probably benign	Het
Kcnn3	A	G	3: 89,568,525 (GRCm39)	H601R	possibly damaging	Het
Lrrc25	C	A	8: 71,070,472 (GRCm39)	F84L	probably benign	Het
Ltb	A	G	17: 35,414,977 (GRCm39)	Y259C	probably damaging	Het
Med17	A	T	9: 15,178,772 (GRCm39)	N466K	probably damaging	Het
Ncoa2	A	T	1: 13,244,987 (GRCm39)	N570K	probably damaging	Het
Or52ae9	A	T	7: 103,390,262 (GRCm39)	F62I	probably damaging	Het
Or5w1	A	T	2: 87,486,543 (GRCm39)	C241S	probably damaging	Het
Or8k20	T	A	2: 86,106,546 (GRCm39)	Y95F	probably benign	Het
Plb1	T	C	5: 32,478,692 (GRCm39)		probably benign	Het
Ptprk	G	A	10: 27,951,110 (GRCm39)	V12I	unknown	Het
Rabggta	G	A	14: 55,956,418 (GRCm39)		probably benign	Het
Slc41a2	A	G	10: 83,149,364 (GRCm39)	V193A	possibly damaging	Het
Thbs1	A	G	2: 117,950,361 (GRCm39)	N665D	probably benign	Het
Tm9sf1	T	C	14: 55,880,392 (GRCm39)	T2A	possibly damaging	Het
Traf7	C	A	17: 24,732,020 (GRCm39)	C193F	possibly damaging	Het
Vmn1r91	A	G	7: 19,835,768 (GRCm39)	D229G	probably benign	Het
Vmn2r7	A	C	3: 64,598,868 (GRCm39)	V654G	probably damaging	Het

Other mutations in Macc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00915:Macc1	APN	12	119,410,749 (GRCm39)	missense	probably benign	0.16
IGL01515:Macc1	APN	12	119,414,106 (GRCm39)	missense	probably damaging	1.00
IGL01638:Macc1	APN	12	119,410,246 (GRCm39)	missense	probably benign	0.00
IGL01653:Macc1	APN	12	119,414,088 (GRCm39)	missense	probably damaging	1.00
IGL01982:Macc1	APN	12	119,409,369 (GRCm39)	missense	probably benign	0.12
IGL02177:Macc1	APN	12	119,429,292 (GRCm39)	missense	probably damaging	1.00
IGL03199:Macc1	APN	12	119,410,156 (GRCm39)	missense	probably benign	0.24
IGL03246:Macc1	APN	12	119,410,420 (GRCm39)	missense	probably benign	0.00
IGL03265:Macc1	APN	12	119,410,711 (GRCm39)	missense	probably benign	0.00
IGL03306:Macc1	APN	12	119,410,603 (GRCm39)	missense	probably benign	0.00
IGL03307:Macc1	APN	12	119,410,155 (GRCm39)	missense	probably benign
IGL03386:Macc1	APN	12	119,409,598 (GRCm39)	missense	probably benign
PIT4366001:Macc1	UTSW	12	119,410,684 (GRCm39)	missense	probably benign	0.01
PIT4431001:Macc1	UTSW	12	119,410,246 (GRCm39)	missense	probably benign	0.00
R0033:Macc1	UTSW	12	119,410,076 (GRCm39)	missense	probably benign	0.03
R0166:Macc1	UTSW	12	119,410,815 (GRCm39)	nonsense	probably null
R0528:Macc1	UTSW	12	119,410,780 (GRCm39)	missense	probably benign	0.09
R0688:Macc1	UTSW	12	119,410,738 (GRCm39)	missense	probably damaging	0.96
R0725:Macc1	UTSW	12	119,411,251 (GRCm39)	nonsense	probably null
R1356:Macc1	UTSW	12	119,410,290 (GRCm39)	missense	probably benign	0.00
R1647:Macc1	UTSW	12	119,410,156 (GRCm39)	missense	probably benign	0.24
R1648:Macc1	UTSW	12	119,410,156 (GRCm39)	missense	probably benign	0.24
R1938:Macc1	UTSW	12	119,409,466 (GRCm39)	missense	probably damaging	1.00
R2362:Macc1	UTSW	12	119,411,393 (GRCm39)	splice site	probably benign
R2406:Macc1	UTSW	12	119,429,346 (GRCm39)	missense	probably damaging	0.99
R3123:Macc1	UTSW	12	119,411,368 (GRCm39)	missense	probably damaging	1.00
R3713:Macc1	UTSW	12	119,410,576 (GRCm39)	missense	probably benign
R3915:Macc1	UTSW	12	119,410,551 (GRCm39)	missense	probably benign	0.13
R5256:Macc1	UTSW	12	119,410,264 (GRCm39)	missense	possibly damaging	0.87
R5329:Macc1	UTSW	12	119,410,212 (GRCm39)	missense	probably damaging	1.00
R5555:Macc1	UTSW	12	119,414,110 (GRCm39)	missense	probably benign	0.24
R5992:Macc1	UTSW	12	119,411,320 (GRCm39)	missense	probably damaging	0.96
R6024:Macc1	UTSW	12	119,414,160 (GRCm39)	missense	probably benign	0.01
R6064:Macc1	UTSW	12	119,409,400 (GRCm39)	missense	probably benign	0.14
R6196:Macc1	UTSW	12	119,409,785 (GRCm39)	missense	probably damaging	1.00
R6697:Macc1	UTSW	12	119,410,991 (GRCm39)	missense	possibly damaging	0.73
R7046:Macc1	UTSW	12	119,410,773 (GRCm39)	missense	probably benign	0.02
R7060:Macc1	UTSW	12	119,411,190 (GRCm39)	missense	probably damaging	1.00
R7094:Macc1	UTSW	12	119,414,126 (GRCm39)	nonsense	probably null
R7120:Macc1	UTSW	12	119,409,480 (GRCm39)	missense	possibly damaging	0.87
R7496:Macc1	UTSW	12	119,410,734 (GRCm39)	missense	possibly damaging	0.56
R7534:Macc1	UTSW	12	119,411,254 (GRCm39)	missense	probably benign	0.45
R7591:Macc1	UTSW	12	119,410,393 (GRCm39)	missense	probably damaging	0.99
R7715:Macc1	UTSW	12	119,409,991 (GRCm39)	missense	possibly damaging	0.72
R7823:Macc1	UTSW	12	119,410,800 (GRCm39)	missense	probably damaging	0.98
R8121:Macc1	UTSW	12	119,410,324 (GRCm39)	missense	probably damaging	0.97
R8157:Macc1	UTSW	12	119,409,728 (GRCm39)	missense	probably benign	0.04
R8185:Macc1	UTSW	12	119,410,894 (GRCm39)	missense	probably damaging	0.98
R8530:Macc1	UTSW	12	119,409,474 (GRCm39)	missense	probably damaging	0.98
R8548:Macc1	UTSW	12	119,414,091 (GRCm39)	missense	probably benign	0.40
R8713:Macc1	UTSW	12	119,407,261 (GRCm39)	critical splice donor site	probably benign
R8772:Macc1	UTSW	12	119,411,220 (GRCm39)	missense	probably damaging	1.00
R8825:Macc1	UTSW	12	119,409,587 (GRCm39)	missense	probably benign	0.19
R9018:Macc1	UTSW	12	119,409,941 (GRCm39)	missense	possibly damaging	0.73
R9093:Macc1	UTSW	12	119,410,561 (GRCm39)	missense	probably benign	0.04
R9126:Macc1	UTSW	12	119,409,711 (GRCm39)	missense	probably benign	0.02
R9147:Macc1	UTSW	12	119,414,091 (GRCm39)	missense	possibly damaging	0.92
R9148:Macc1	UTSW	12	119,414,091 (GRCm39)	missense	possibly damaging	0.92
R9473:Macc1	UTSW	12	119,297,990 (GRCm39)	intron	probably benign
R9769:Macc1	UTSW	12	119,407,241 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16