Incidental Mutation 'IGL03384:Mcam'
ID420823
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mcam
Ensembl Gene ENSMUSG00000032135
Gene Namemelanoma cell adhesion molecule
SynonymsMuc18, CD146, s-gicerin, 1-gicerin, s-endo
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.377) question?
Stock #IGL03384
Quality Score
Status
Chromosome9
Chromosomal Location44134469-44142727 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) G to A at 44140512 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000149002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034650] [ENSMUST00000098852] [ENSMUST00000147836] [ENSMUST00000149241] [ENSMUST00000206147] [ENSMUST00000206720] [ENSMUST00000216002]
Predicted Effect probably benign
Transcript: ENSMUST00000034650
SMART Domains Protein: ENSMUSP00000034650
Gene: ENSMUSG00000032135

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IG 35 135 6.61e-4 SMART
IG_like 155 213 4.22e-1 SMART
IG 259 343 8.13e-4 SMART
IGc2 358 416 3.4e-6 SMART
IG_like 445 508 1.92e0 SMART
low complexity region 511 525 N/A INTRINSIC
transmembrane domain 562 584 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098852
SMART Domains Protein: ENSMUSP00000096451
Gene: ENSMUSG00000032135

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IG 35 135 6.61e-4 SMART
IG_like 155 213 4.22e-1 SMART
IG 259 343 8.13e-4 SMART
IGc2 358 416 3.4e-6 SMART
IG_like 445 508 1.92e0 SMART
low complexity region 511 525 N/A INTRINSIC
transmembrane domain 562 584 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132490
Predicted Effect probably benign
Transcript: ENSMUST00000147836
SMART Domains Protein: ENSMUSP00000117924
Gene: ENSMUSG00000032135

DomainStartEndE-ValueType
Pfam:V-set 2 97 2.4e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149241
SMART Domains Protein: ENSMUSP00000121090
Gene: ENSMUSG00000032135

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 64 76 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000206147
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206163
Predicted Effect probably benign
Transcript: ENSMUST00000206720
Predicted Effect probably benign
Transcript: ENSMUST00000216002
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a conditional allele activated in endothelial cells exhibit impaired VEGF-induced angiogenesis in Matrigel. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik A G 11: 72,195,847 I246T possibly damaging Het
Ablim2 C T 5: 35,874,872 R614C probably damaging Het
B230118H07Rik G T 2: 101,585,263 T115N probably benign Het
B4galt7 T C 13: 55,609,289 L265P probably damaging Het
Col4a4 C T 1: 82,484,438 C1072Y probably benign Het
Cxcr2 T C 1: 74,158,791 V148A probably damaging Het
Dnah14 G A 1: 181,745,949 V2942M probably benign Het
Fam124b T A 1: 80,199,956 H442L probably benign Het
Haus6 T C 4: 86,583,525 H703R probably benign Het
Ice1 T C 13: 70,603,249 T1573A probably benign Het
Ighv1-31 A G 12: 114,829,473 F48L probably benign Het
Iws1 C A 18: 32,093,150 A697D probably damaging Het
Jhy T A 9: 40,960,932 N94Y probably benign Het
Kank2 C T 9: 21,774,578 V667M possibly damaging Het
Muc5ac A T 7: 141,812,403 I2099F possibly damaging Het
Myo7a T C 7: 98,093,593 I410V probably damaging Het
Nub1 A T 5: 24,697,427 probably benign Het
Nub1 A T 5: 24,697,426 probably null Het
Olfr980 T C 9: 40,006,470 T160A probably benign Het
Panx2 C T 15: 89,068,119 A271V possibly damaging Het
Papss1 T A 3: 131,579,352 H13Q probably damaging Het
Pkd1 A G 17: 24,565,897 T438A probably benign Het
Ppdpf T C 2: 181,187,880 S43P probably benign Het
Ptchd4 T A 17: 42,502,590 C461S probably damaging Het
Rapgef2 A G 3: 79,083,546 F985S probably damaging Het
Rbm25 T C 12: 83,659,523 I214T probably benign Het
Sgpp1 T C 12: 75,716,106 probably benign Het
Slc22a20 A T 19: 5,980,374 C343* probably null Het
Slc22a22 T C 15: 57,254,216 I310V probably benign Het
Slc6a13 T C 6: 121,332,391 F287S probably damaging Het
Usp30 A G 5: 114,121,574 D447G probably damaging Het
Vmn1r78 A T 7: 12,153,209 Y249F possibly damaging Het
Vmn2r106 T C 17: 20,268,143 T665A probably damaging Het
Vps37b A G 5: 124,007,607 probably null Het
Wfdc1 T A 8: 119,686,277 N198K probably benign Het
Other mutations in Mcam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02408:Mcam APN 9 44140250 missense probably benign 0.01
IGL02671:Mcam APN 9 44137034 splice site probably benign
IGL02682:Mcam APN 9 44140417 missense possibly damaging 0.80
R0238:Mcam UTSW 9 44140205 unclassified probably null
R0238:Mcam UTSW 9 44140205 unclassified probably null
R0320:Mcam UTSW 9 44140186 missense possibly damaging 0.89
R1432:Mcam UTSW 9 44141291 missense probably damaging 0.98
R1485:Mcam UTSW 9 44136763 missense probably damaging 1.00
R1503:Mcam UTSW 9 44141291 missense probably damaging 0.98
R1730:Mcam UTSW 9 44134706 missense probably damaging 1.00
R1783:Mcam UTSW 9 44134706 missense probably damaging 1.00
R2146:Mcam UTSW 9 44136635 missense probably damaging 0.99
R2150:Mcam UTSW 9 44136635 missense probably damaging 0.99
R2215:Mcam UTSW 9 44139953 nonsense probably null
R4366:Mcam UTSW 9 44134697 missense probably damaging 1.00
R4519:Mcam UTSW 9 44141343 missense possibly damaging 0.95
R4948:Mcam UTSW 9 44136566 missense probably damaging 1.00
R5965:Mcam UTSW 9 44136628 missense probably damaging 1.00
R6704:Mcam UTSW 9 44136920 missense probably benign 0.06
R6955:Mcam UTSW 9 44139269 missense probably damaging 1.00
Posted On2016-08-02