Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01515:Macc1'

89352

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 #

IGL01515

Quality Score

Status

Chromosome

Chromosomal Location

119354133-119430669 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 119414106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 761 (K761Q)

Ref Sequence

ENSEMBL: ENSMUSP00000152677 (fasta)

Gene Model

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

AlphaFold

E9PXX8

Predicted Effect

probably damaging
Transcript: ENSMUST00000048880
AA Change: K761Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042955
Gene: ENSMUSG00000041886
AA Change: K761Q

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: K761Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000221917
AA Change: K761Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222058
AA Change: K761Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222784
AA Change: K761Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	T	15: 91,047,289 (GRCm39)	V588E	probably damaging	Het
Ar	C	T	X: 97,295,453 (GRCm39)		probably benign	Het
B4galt7	C	A	13: 55,757,035 (GRCm39)	Q243K	probably damaging	Het
Cdhr2	A	T	13: 54,866,051 (GRCm39)	T284S	probably benign	Het
Chdh	G	A	14: 29,758,843 (GRCm39)	R596H	probably damaging	Het
Cyp2r1	T	C	7: 114,151,947 (GRCm39)		probably benign	Het
Cyp3a44	A	T	5: 145,736,228 (GRCm39)	L74*	probably null	Het
Dnah8	A	T	17: 30,867,459 (GRCm39)	I304L	probably benign	Het
Fam171b	G	A	2: 83,710,577 (GRCm39)	E750K	probably damaging	Het
Fbxo38	T	A	18: 62,651,642 (GRCm39)	E554D	probably benign	Het
Fnd3c2	T	C	X: 105,282,093 (GRCm39)	K721E	probably damaging	Het
Gpam	A	G	19: 55,075,883 (GRCm39)	L243P	probably damaging	Het
Heph	A	G	X: 95,601,706 (GRCm39)	E1032G	probably damaging	Het
Igf1r	T	A	7: 67,857,200 (GRCm39)	V1054E	probably damaging	Het
Inpp4b	A	G	8: 82,679,340 (GRCm39)	S331G	possibly damaging	Het
Ints11	A	T	4: 155,959,689 (GRCm39)	I99F	probably damaging	Het
Jak3	G	A	8: 72,133,206 (GRCm39)		probably null	Het
Ky	A	G	9: 102,419,304 (GRCm39)	Y437C	probably benign	Het
Lin28a	A	G	4: 133,746,020 (GRCm39)		probably null	Het
Myom2	A	G	8: 15,172,655 (GRCm39)	D1194G	probably benign	Het
Naga	C	A	15: 82,214,360 (GRCm39)	V384F	probably benign	Het
Necab3	A	T	2: 154,396,611 (GRCm39)	S72T	probably damaging	Het
Or4a27	G	A	2: 88,559,352 (GRCm39)	T197I	probably benign	Het
Or51i2	A	G	7: 103,689,183 (GRCm39)	Y60C	probably benign	Het
Ptpn13	C	T	5: 103,703,979 (GRCm39)	S1337L	probably benign	Het
Slitrk2	C	T	X: 65,699,248 (GRCm39)	P580S	probably damaging	Het
Tpsg1	A	G	17: 25,592,936 (GRCm39)	D67G	probably damaging	Het
Tsc22d1	T	C	14: 76,742,739 (GRCm39)		probably null	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
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
IGL02263:Macc1	APN	12	119,409,752 (GRCm39)	missense	possibly damaging	0.87
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

2013-12-03