Incidental Mutation 'R0725:Macc1'
ID 218382
Institutional Source Beutler Lab
Gene Symbol Macc1
Ensembl Gene ENSMUSG00000041886
Gene Name metastasis associated in colon cancer 1
Synonyms 4732474O15Rik
MMRRC Submission 038907-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R0725 (G1)
Quality Score 46
Status Validated
Chromosome 12
Chromosomal Location 119354133-119430669 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 119411251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 673 (S673*)
Ref Sequence ENSEMBL: ENSMUSP00000152677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048880] [ENSMUST00000221866] [ENSMUST00000221917] [ENSMUST00000222058] [ENSMUST00000222784]
AlphaFold E9PXX8
Predicted Effect probably null
Transcript: ENSMUST00000048880
AA Change: S673*
SMART Domains Protein: ENSMUSP00000042955
Gene: ENSMUSG00000041886
AA Change: S673*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000221866
AA Change: S673*
Predicted Effect probably null
Transcript: ENSMUST00000221917
AA Change: S673*
Predicted Effect probably null
Transcript: ENSMUST00000222058
AA Change: S673*
Predicted Effect probably null
Transcript: ENSMUST00000222784
AA Change: S673*
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 93.7%
Validation Efficiency 100% (70/70)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asph C T 4: 9,542,275 (GRCm39) D305N probably damaging Het
Atp13a3 T C 16: 30,170,205 (GRCm39) K327R probably damaging Het
Cacna1s T C 1: 136,026,264 (GRCm39) probably benign Het
Ccnk T C 12: 108,161,834 (GRCm39) probably benign Het
Cep55 T C 19: 38,048,622 (GRCm39) S93P possibly damaging Het
Cfap300 A T 9: 8,027,144 (GRCm39) D131E probably damaging Het
Cfh A G 1: 140,085,081 (GRCm39) probably benign Het
Clptm1l A G 13: 73,754,462 (GRCm39) T129A probably benign Het
Cntnap5a A G 1: 116,220,206 (GRCm39) E672G probably benign Het
Cpped1 C A 16: 11,646,314 (GRCm39) W170L probably damaging Het
Crygb T C 1: 65,121,100 (GRCm39) I76V probably benign Het
Cyp3a25 A G 5: 145,931,746 (GRCm39) S121P probably damaging Het
Cyp4b1 T C 4: 115,484,024 (GRCm39) D395G probably damaging Het
Dll4 T C 2: 119,163,170 (GRCm39) V597A probably damaging Het
Dock7 T C 4: 98,833,528 (GRCm39) D1891G probably damaging Het
Dsel T C 1: 111,787,682 (GRCm39) D951G possibly damaging Het
Dync2h1 C A 9: 7,015,497 (GRCm39) V3603F possibly damaging Het
Fam167b C A 4: 129,472,078 (GRCm39) A31S probably damaging Het
Fgfrl1 T A 5: 108,852,539 (GRCm39) I25N probably damaging Het
Gzf1 C T 2: 148,526,569 (GRCm39) R347* probably null Het
Heatr5b T A 17: 79,103,825 (GRCm39) I1117F probably benign Het
Kntc1 T C 5: 123,907,767 (GRCm39) V456A possibly damaging Het
Mpp4 T C 1: 59,160,581 (GRCm39) E574G probably damaging Het
Muc20 C T 16: 32,613,858 (GRCm39) M506I probably benign Het
Ncbp1 A G 4: 46,152,056 (GRCm39) T218A probably benign Het
Nfxl1 A T 5: 72,716,473 (GRCm39) V46E probably benign Het
Nfyc G T 4: 120,625,931 (GRCm39) probably benign Het
Niban1 A G 1: 151,581,766 (GRCm39) E454G probably benign Het
Or51f5 T A 7: 102,423,739 (GRCm39) S3T probably benign Het
Or8g55 A T 9: 39,784,643 (GRCm39) Q24L probably damaging Het
Osbpl8 T C 10: 111,122,101 (GRCm39) F681S possibly damaging Het
Pcm1 G C 8: 41,740,848 (GRCm39) E1031D probably damaging Het
Pdcd11 A G 19: 47,115,730 (GRCm39) E1486G probably benign Het
Pex12 G T 11: 83,188,860 (GRCm39) A45E probably damaging Het
Pheta1 T A 5: 121,991,314 (GRCm39) H225Q probably benign Het
Pigm A G 1: 172,204,384 (GRCm39) D40G probably damaging Het
Pkp1 G T 1: 135,808,478 (GRCm39) N496K probably benign Het
Psmc4 T C 7: 27,748,287 (GRCm39) I54V probably benign Het
Rbm33 T C 5: 28,599,481 (GRCm39) V951A unknown Het
Selenbp2 G T 3: 94,604,809 (GRCm39) probably benign Het
Slc3a1 G A 17: 85,368,263 (GRCm39) W510* probably null Het
Stx12 A C 4: 132,584,701 (GRCm39) probably benign Het
Tas2r125 G T 6: 132,887,085 (GRCm39) D158Y probably benign Het
Tchp C A 5: 114,857,682 (GRCm39) Q392K probably benign Het
Tmed11 T A 5: 108,926,855 (GRCm39) D139V probably damaging Het
Ttn C T 2: 76,578,654 (GRCm39) V24080M probably damaging Het
Ush2a G A 1: 188,683,722 (GRCm39) G4967D probably damaging Het
Vezf1 T C 11: 87,964,156 (GRCm39) S103P probably benign Het
Xpnpep3 T C 15: 81,315,043 (GRCm39) S248P probably damaging Het
Yipf2 G C 9: 21,503,519 (GRCm39) probably null Het
Zfp110 A T 7: 12,570,290 (GRCm39) Q39L possibly damaging Het
Zfp287 A T 11: 62,605,039 (GRCm39) C623S probably damaging Het
Other mutations in Macc1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Predicted Primers PCR Primer
(F):5'- GAGGTAAGATCGGACTCGTGCATTG -3'
(R):5'- AAGCGAGCCTCACATAAGCCTG -3'

Sequencing Primer
(F):5'- GGACTCGTGCATTGTAAAAATGTC -3'
(R):5'- CTATGACCTTGCACAAAAAGTGG -3'
Posted On 2014-08-01