Incidental Mutation 'IGL02301:Ceacam3'
ID290282
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 #IGL02301
Quality Score
Status
Chromosome7
Chromosomal Location17150282-17164253 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 17163101 bp
ZygosityHeterozygous
Amino Acid Change Serine to Phenylalanine at position 664 (S664F)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108491]
Predicted Effect probably damaging
Transcript: ENSMUST00000065540
AA Change: S664F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069892
Gene: ENSMUSG00000053228
AA Change: S664F

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 damaging
Transcript: ENSMUST00000108491
AA Change: S664F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104131
Gene: ENSMUSG00000053228
AA Change: S664F

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8l A G 17: 32,332,926 probably benign Het
Alk T C 17: 71,874,176 Q1373R probably damaging Het
Atf7ip2 T G 16: 10,211,047 S148A probably benign Het
Bpi C T 2: 158,274,814 S377F probably damaging Het
Ccni A T 5: 93,188,175 C122S possibly damaging Het
Cd5l A G 3: 87,365,993 R90G probably benign Het
Clca3a2 A T 3: 144,806,372 D534E probably damaging Het
Ep400 A T 5: 110,674,960 S2524R probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gart A G 16: 91,621,837 probably benign Het
Gm9513 T C 9: 36,477,187 probably benign Het
Gsdmc4 A G 15: 63,895,264 V219A probably benign Het
Hus1 T C 11: 8,996,915 T261A probably benign Het
Lman2l A G 1: 36,443,543 I84T probably damaging Het
Megf8 G A 7: 25,337,900 V742M probably damaging Het
Myo1d A G 11: 80,676,853 V267A probably benign Het
Notch2 A G 3: 98,141,554 T1803A probably benign Het
Olfr1278 T A 2: 111,292,697 M143K probably benign Het
Olfr23 T A 11: 73,941,068 M274K possibly damaging Het
Olfr814 A G 10: 129,874,079 F226S probably damaging Het
Pde5a G A 3: 122,760,885 R208Q probably damaging Het
Pla2r1 T C 2: 60,452,436 N745S probably benign Het
Ptgdr2 T A 19: 10,940,209 I30N possibly damaging Het
Rap1gap2 G A 11: 74,407,369 T415I probably damaging Het
Slc6a6 T C 6: 91,726,056 Y137H probably benign Het
Sptbn1 A T 11: 30,142,129 D532E probably damaging Het
Stk39 T C 2: 68,211,962 D543G probably damaging Het
Trpc4 G A 3: 54,291,232 V526M probably damaging Het
Trrap A G 5: 144,777,917 I100V probably benign Het
Vmn1r-ps123 A C 13: 22,996,357 noncoding transcript Het
Vwa5b2 G A 16: 20,604,790 G1151D probably damaging Het
Zfp358 T A 8: 3,496,858 I480N probably benign Het
Zfp423 T C 8: 87,781,574 D714G 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
IGL02320:Ceacam3 APN 7 17161940 missense probably benign 0.43
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
Posted On2015-04-16