Incidental Mutation 'IGL02320:Ceacam3'
ID288208
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ceacam3
Ensembl Gene ENSMUSG00000053228
Gene Namecarcinoembryonic antigen-related cell adhesion molecule 3
SynonymsEG384557, cea12, Psg24
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02320
Quality Score
Status
Chromosome7
Chromosomal Location17150282-17164253 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 17161940 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 612 (Y612N)
Ref Sequence ENSEMBL: ENSMUSP00000104131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108491]
Predicted Effect probably benign
Transcript: ENSMUST00000065540
AA Change: Y612N

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000069892
Gene: ENSMUSG00000053228
AA Change: Y612N

DomainStartEndE-ValueType
low complexity region 14 25 N/A INTRINSIC
IG 35 136 2.83e-3 SMART
IG 155 256 6.31e-1 SMART
IG 275 376 1.42e-3 SMART
IG 395 494 2.08e-1 SMART
IG 511 610 1.26e0 SMART
IGc2 628 692 7.64e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108491
AA Change: Y612N

PolyPhen 2 Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000104131
Gene: ENSMUSG00000053228
AA Change: Y612N

DomainStartEndE-ValueType
IG 40 141 2.83e-3 SMART
IG 160 261 6.31e-1 SMART
IG 280 379 8.01e-3 SMART
IG 398 497 2.08e-1 SMART
IG 514 613 1.26e0 SMART
IGc2 631 695 7.64e-9 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 T C 15: 74,574,112 S146P probably damaging Het
Ap1m2 A T 9: 21,299,324 Y336* probably null Het
Arap1 T C 7: 101,385,029 L226P probably benign Het
Cacna1c T A 6: 118,637,792 N1150Y probably damaging Het
Ccsap G T 8: 123,842,438 H221Q probably damaging Het
Col12a1 A G 9: 79,616,021 probably null Het
Ddx23 T C 15: 98,650,938 T328A possibly damaging Het
Depdc1a T A 3: 159,516,933 M252K probably damaging Het
Dpcr1 A T 17: 35,637,440 N422K probably benign Het
Fam57a A G 11: 76,205,405 M120V probably damaging Het
Fpr2 A C 17: 17,893,346 R201S probably benign Het
Ighv1-20 A G 12: 114,723,843 S94P probably damaging Het
Itgb7 A C 15: 102,224,337 V180G probably benign Het
Mmp13 G T 9: 7,278,941 R344L probably benign Het
Ncam2 C T 16: 81,434,837 S63L probably damaging Het
Olfr472 C T 7: 107,902,831 T38I possibly damaging Het
Pde9a G A 17: 31,459,085 C187Y probably damaging Het
Sh2b1 A G 7: 126,469,169 L490P probably benign Het
Shank2 A G 7: 144,420,944 T1193A probably damaging Het
Shisa2 T A 14: 59,629,797 M166K probably damaging Het
Smg7 A T 1: 152,868,337 S40T possibly damaging Het
Spef2 A C 15: 9,717,576 S285A probably damaging Het
Tcrg-V7 C A 13: 19,178,079 P13Q unknown Het
Ttn A G 2: 76,939,312 probably benign Het
Tyw5 A G 1: 57,396,725 probably null Het
Vars2 A G 17: 35,660,454 V212A probably benign Het
Vmn2r1 T C 3: 64,081,759 S40P possibly damaging Het
Wwc2 A G 8: 47,863,847 probably null Het
Zbed6 T C 1: 133,657,673 N642S probably damaging Het
Zfp423 A T 8: 87,781,602 C580S probably damaging Het
Zfp64 A G 2: 168,926,198 V498A probably damaging Het
Other mutations in Ceacam3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01161:Ceacam3 APN 7 17151857 missense probably benign 0.03
IGL01510:Ceacam3 APN 7 17159842 missense probably benign 0.00
IGL01830:Ceacam3 APN 7 17155000 missense possibly damaging 0.79
IGL02155:Ceacam3 APN 7 17162981 missense possibly damaging 0.58
IGL02281:Ceacam3 APN 7 17161731 missense probably benign 0.43
IGL02301:Ceacam3 APN 7 17163101 missense probably damaging 1.00
IGL02514:Ceacam3 APN 7 17162981 missense possibly damaging 0.58
IGL02929:Ceacam3 APN 7 17158190 missense probably damaging 1.00
IGL03143:Ceacam3 APN 7 17158120 nonsense probably null
IGL03269:Ceacam3 APN 7 17161842 missense probably damaging 0.99
R0408:Ceacam3 UTSW 7 17151883 critical splice donor site probably benign
R0591:Ceacam3 UTSW 7 17151883 critical splice donor site probably null
R1274:Ceacam3 UTSW 7 17163139 missense probably damaging 0.98
R1376:Ceacam3 UTSW 7 17163163 missense probably damaging 1.00
R1376:Ceacam3 UTSW 7 17163163 missense probably damaging 1.00
R1490:Ceacam3 UTSW 7 17163146 missense probably damaging 1.00
R1635:Ceacam3 UTSW 7 17159977 missense probably damaging 1.00
R1769:Ceacam3 UTSW 7 17158376 missense probably damaging 1.00
R2345:Ceacam3 UTSW 7 17155000 missense possibly damaging 0.79
R2367:Ceacam3 UTSW 7 17151888 splice site probably null
R2403:Ceacam3 UTSW 7 17161854 missense probably damaging 1.00
R4030:Ceacam3 UTSW 7 17158342 missense probably benign 0.43
R4240:Ceacam3 UTSW 7 17160024 missense possibly damaging 0.95
R5305:Ceacam3 UTSW 7 17151576 missense probably damaging 1.00
R5314:Ceacam3 UTSW 7 17158371 missense possibly damaging 0.94
R5433:Ceacam3 UTSW 7 17159883 missense possibly damaging 0.48
R5538:Ceacam3 UTSW 7 17158421 missense probably damaging 1.00
R5638:Ceacam3 UTSW 7 17159935 missense probably damaging 0.98
R5787:Ceacam3 UTSW 7 17155046 missense possibly damaging 0.80
R5891:Ceacam3 UTSW 7 17151793 missense probably damaging 1.00
R5918:Ceacam3 UTSW 7 17159745 missense probably damaging 0.99
R6074:Ceacam3 UTSW 7 17151559 missense probably benign 0.05
R6386:Ceacam3 UTSW 7 17158219 missense probably benign 0.22
R6439:Ceacam3 UTSW 7 17158328 missense possibly damaging 0.59
R6455:Ceacam3 UTSW 7 17161938 missense possibly damaging 0.81
R7150:Ceacam3 UTSW 7 17151562 missense
R7196:Ceacam3 UTSW 7 17154956 missense
R7201:Ceacam3 UTSW 7 17158238 nonsense probably null
R7731:Ceacam3 UTSW 7 17158350 missense
R7833:Ceacam3 UTSW 7 17159853 missense
R7916:Ceacam3 UTSW 7 17159853 missense
Posted On2015-04-16