Mutagenetix > Incidental Mutations

Incidental Mutation 'R5329:Macc1'

422236

Institutional Source

Beutler Lab

Gene Symbol

Macc1

Ensembl Gene

ENSMUSG00000041886

Gene Name

metastasis associated in colon cancer 1

Synonyms

MMRRC Submission

042911-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R5329 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119314270-119469987 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119446477 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 327 (Y327N)

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: Y327N

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

SMART Domains

Protein: ENSMUSP00000042955
Gene: ENSMUSG00000041886
AA Change: Y327N

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: Y327N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000221917
AA Change: Y327N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000222058
AA Change: Y327N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000222784
AA Change: Y327N

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

Meta Mutation Damage Score

0.3495

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (61/62)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430005L14Rik	G	A	4: 153,959,827	V32I	probably benign	Het
Abcg4	A	T	9: 44,279,545	M19K	probably benign	Het
Acsm1	A	G	7: 119,656,051	T392A	probably benign	Het
Adam19	A	T	11: 46,125,026	I338F	probably damaging	Het
Adamdec1	C	T	14: 68,570,163	M349I	probably damaging	Het
Arhgef11	T	A	3: 87,679,752		probably benign	Het
Bptf	T	C	11: 107,073,295	D1628G	probably benign	Het
Camk2d	C	T	3: 126,597,482	Q15*	probably null	Het
Camk2g	T	G	14: 20,793,931	D12A	possibly damaging	Het
Cgn	T	C	3: 94,779,990	M1V	probably null	Het
Clec16a	G	A	16: 10,731,679	C872Y	probably damaging	Het
Dcbld1	C	A	10: 52,284,257		probably benign	Het
Ear-ps2	G	A	14: 44,047,060		noncoding transcript	Het
Espl1	T	A	15: 102,312,518	L903Q	probably damaging	Het
Gm11639	T	G	11: 104,753,806		probably null	Het
Gm5117	T	A	8: 31,737,882		noncoding transcript	Het
Gm5150	T	C	3: 15,963,424	T228A	probably benign	Het
Gm5435	A	T	12: 82,496,476		noncoding transcript	Het
Gpr156	T	A	16: 38,005,448	C676S	probably benign	Het
Gstt3	C	T	10: 75,774,851	E230K	possibly damaging	Het
Jarid2	A	G	13: 44,906,271	I660V	possibly damaging	Het
Kif13a	A	G	13: 46,775,401		probably null	Het
Kntc1	T	A	5: 123,764,191	V299D	probably benign	Het
Lin9	T	A	1: 180,669,198	L351I	probably benign	Het
Lipk	T	A	19: 34,020,213		probably null	Het
Loxhd1	T	C	18: 77,332,682	L334P	probably damaging	Het
Man2a2	G	A	7: 80,361,128	S705L	possibly damaging	Het
Mmp1b	T	C	9: 7,384,897	I251V	possibly damaging	Het
Ncam2	A	T	16: 81,434,819	Q57L	probably damaging	Het
Nedd1	T	C	10: 92,686,240	E645G	probably damaging	Het
Nfatc1	A	T	18: 80,708,117	M1K	probably null	Het
Nlrp9b	A	T	7: 20,023,991	R384S	probably damaging	Het
Nrxn3	A	G	12: 89,813,584	H62R	possibly damaging	Het
Olfr1097	A	G	2: 86,890,620	L185S	probably damaging	Het
Olfr1233	T	A	2: 89,339,459	Y281F	probably damaging	Het
Olfr640	T	C	7: 104,021,997	H107R	probably damaging	Het
Olfr753-ps1	T	A	17: 37,170,000	Y216F	probably damaging	Het
Olfr887	A	T	9: 38,085,126	M97L	probably benign	Het
Pdzph1	T	A	17: 58,974,880	I136F	probably damaging	Het
Pigg	T	C	5: 108,314,160	I119T	probably damaging	Het
R3hdm2	A	G	10: 127,458,893	H215R	probably damaging	Het
Sept14	C	T	5: 129,685,914		probably null	Het
Slc9a3	T	C	13: 74,150,960	M166T	possibly damaging	Het
Spock3	A	G	8: 63,345,782	D279G	probably damaging	Het
Suco	T	C	1: 161,833,430	I967V	probably damaging	Het
Tgtp1	A	G	11: 48,987,176	L234P	probably damaging	Het
Tmem176a	A	G	6: 48,842,217	D4G	probably benign	Het
Tmem2	T	C	19: 21,798,329	I312T	probably benign	Het
Ugt1a10	G	A	1: 88,216,254	A199T	probably damaging	Het
Uox	A	G	3: 146,624,545	D152G	probably damaging	Het
Vmn1r35	C	T	6: 66,679,506	W60*	probably null	Het
Vmn2r103	T	C	17: 19,812,171	C736R	probably 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
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
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
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

Predicted Primers

PCR Primer
(F):5'- AAGCCCTCTCTTGGAAATCAGG -3'
(R):5'- GACTGTAAACTTTCCTGGCAC -3'

Sequencing Primer
(F):5'- GCCCTCTCTTGGAAATCAGGTTAAG -3'
(R):5'- CTGTAAACTTTCCTGGCACATAGTTG -3'

Posted On

2016-08-04