Incidental Mutation 'IGL02094:Ceacam1'
ID279522
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ceacam1
Ensembl Gene ENSMUSG00000074272
Gene Namecarcinoembryonic antigen-related cell adhesion molecule 1
SynonymsCea1, C-CAM, Cc1, Hv2, CD66a, Cea-7, Cea7, Mhv-1, Hv-2, MHVR1, mmCGM1, mCEA1, Bgp1, mmCGM2, Bgp, Cea-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL02094
Quality Score
Status
Chromosome7
Chromosomal Location25461707-25477603 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 25474543 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 229 (D229G)
Ref Sequence ENSEMBL: ENSMUSP00000145584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098666] [ENSMUST00000098668] [ENSMUST00000098669] [ENSMUST00000205308] [ENSMUST00000206171] [ENSMUST00000206583] [ENSMUST00000206676] [ENSMUST00000206687]
Predicted Effect probably damaging
Transcript: ENSMUST00000098666
AA Change: D229G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096263
Gene: ENSMUSG00000074272
AA Change: D229G

DomainStartEndE-ValueType
Pfam:V-set 18 140 1e-21 PFAM
IGc2 158 224 1.61e-7 SMART
IGc2 252 308 5.04e-9 SMART
IGc2 337 401 8.37e-15 SMART
transmembrane domain 426 448 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098668
SMART Domains Protein: ENSMUSP00000096265
Gene: ENSMUSG00000074272

DomainStartEndE-ValueType
Pfam:V-set 12 140 2.4e-21 PFAM
IGc2 157 221 8.37e-15 SMART
transmembrane domain 246 268 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000098669
AA Change: D229G

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000096266
Gene: ENSMUSG00000074272
AA Change: D229G

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
Pfam:V-set 39 141 3.6e-13 PFAM
IGc2 158 224 1.61e-7 SMART
IGc2 252 308 5.04e-9 SMART
IGc2 337 401 8.37e-15 SMART
transmembrane domain 426 448 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000205308
Predicted Effect probably damaging
Transcript: ENSMUST00000206171
AA Change: D229G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206300
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206483
Predicted Effect probably benign
Transcript: ENSMUST00000206583
AA Change: D229G

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
Predicted Effect probably damaging
Transcript: ENSMUST00000206676
AA Change: D229G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000206687
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206717
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206981
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice lacking appreciable levels of the two isoforms containing 4 Ig domains and having increased levels of the two isoforms containing 2 Ig domains are viable and fertile. They are significantly more resistant to mouse hepatitis virus than wild-type mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T C 8: 55,871,445 N658S possibly damaging Het
Adcy10 T C 1: 165,570,620 Y1429H probably damaging Het
Aebp1 G A 11: 5,868,357 M98I probably benign Het
Arl3 T C 19: 46,558,341 D15G probably benign Het
Casp2 T A 6: 42,280,359 I414N probably damaging Het
Cog7 G T 7: 121,963,247 A234E probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp3a59 A T 5: 146,104,821 T392S probably benign Het
Ebf2 G A 14: 67,235,240 V36M possibly damaging Het
Fbxw15 A C 9: 109,558,240 V229G possibly damaging Het
Got1l1 A G 8: 27,199,845 V171A probably benign Het
Itgax A G 7: 128,131,473 Y121C probably damaging Het
Kcng4 C A 8: 119,633,221 A139S probably damaging Het
Kcnj9 G T 1: 172,325,708 T283K probably damaging Het
Mgl2 T A 11: 70,137,097 I377K possibly damaging Het
Myo15 T C 11: 60,510,647 probably benign Het
Nod1 A T 6: 54,939,390 probably null Het
Nr1h5 A T 3: 102,952,196 C182* probably null Het
Nup210l G T 3: 90,180,213 probably null Het
Ptbp2 G A 3: 119,752,940 probably benign Het
Ptpn13 T G 5: 103,594,617 F2401V probably damaging Het
Rbbp6 T C 7: 122,997,262 S676P probably damaging Het
Recql4 T A 15: 76,709,517 Q131L probably benign Het
Sbno2 G A 10: 80,057,645 P1274L probably benign Het
Sec24c T C 14: 20,688,402 V341A probably damaging Het
Smc1b A T 15: 85,097,891 probably benign Het
Sptbn1 T C 11: 30,100,659 H2310R probably benign Het
Tas2r109 T A 6: 132,980,239 I243F possibly damaging Het
Trpc1 A C 9: 95,743,281 D97E probably damaging Het
Trpm2 G A 10: 77,942,996 Q379* probably null Het
Ttn A G 2: 76,818,823 probably benign Het
Vmn2r74 A T 7: 85,961,461 F8I probably benign Het
Zfp36 C T 7: 28,377,763 S240N probably benign Het
Zfp65 A G 13: 67,708,185 I325T possibly damaging Het
Other mutations in Ceacam1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00701:Ceacam1 APN 7 25471914 missense possibly damaging 0.86
IGL01766:Ceacam1 APN 7 25471995 missense probably damaging 1.00
IGL02869:Ceacam1 APN 7 25476541 missense probably benign 0.07
IGL03325:Ceacam1 APN 7 25476487 missense possibly damaging 0.83
PIT4445001:Ceacam1 UTSW 7 25476456 missense probably damaging 1.00
PIT4810001:Ceacam1 UTSW 7 25471975 missense probably damaging 1.00
R0464:Ceacam1 UTSW 7 25472017 missense possibly damaging 0.64
R1270:Ceacam1 UTSW 7 25466314 splice site probably null
R1771:Ceacam1 UTSW 7 25472044 missense probably benign 0.17
R1819:Ceacam1 UTSW 7 25463860 missense possibly damaging 0.68
R1964:Ceacam1 UTSW 7 25474708 missense probably benign 0.13
R2048:Ceacam1 UTSW 7 25476688 missense probably benign 0.09
R2760:Ceacam1 UTSW 7 25477474 missense probably damaging 0.99
R2857:Ceacam1 UTSW 7 25474017 missense probably damaging 0.96
R2859:Ceacam1 UTSW 7 25474017 missense probably damaging 0.96
R3546:Ceacam1 UTSW 7 25471914 missense probably benign 0.07
R4471:Ceacam1 UTSW 7 25474600 missense possibly damaging 0.93
R4606:Ceacam1 UTSW 7 25474526 missense probably damaging 0.97
R4810:Ceacam1 UTSW 7 25474520 makesense probably null
R5291:Ceacam1 UTSW 7 25471831 missense probably damaging 0.99
R5405:Ceacam1 UTSW 7 25463865 missense probably benign 0.41
R5423:Ceacam1 UTSW 7 25474526 missense probably benign 0.01
R5851:Ceacam1 UTSW 7 25474600 missense possibly damaging 0.70
R5967:Ceacam1 UTSW 7 25474742 missense probably damaging 0.97
R6216:Ceacam1 UTSW 7 25471996 missense probably benign 0.19
R6235:Ceacam1 UTSW 7 25471792 splice site probably null
R6323:Ceacam1 UTSW 7 25474651 missense probably damaging 1.00
R6545:Ceacam1 UTSW 7 25473854 missense probably damaging 1.00
R7371:Ceacam1 UTSW 7 25474720 missense possibly damaging 0.95
R7760:Ceacam1 UTSW 7 25472025 missense probably damaging 1.00
R7790:Ceacam1 UTSW 7 25473950 missense probably damaging 1.00
R7869:Ceacam1 UTSW 7 25476529 missense probably damaging 0.97
R7934:Ceacam1 UTSW 7 25463795 missense possibly damaging 0.68
R8189:Ceacam1 UTSW 7 25473918 missense probably damaging 0.96
X0028:Ceacam1 UTSW 7 25476420 missense probably damaging 1.00
Posted On2015-04-16