Incidental Mutation 'IGL00701:Ceacam1'
ID 12525
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ceacam1
Ensembl Gene ENSMUSG00000074272
Gene Name CEA cell adhesion molecule 1
Synonyms C-CAM, Hv-2, mmCGM1, Hv2, Cea7, mCEA1, MHVR1, CD66a, Cc1, Cea-1, mmCGM2, Cea-7, Bgp1, Mhv-1, Cea1, Bgp
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # IGL00701
Quality Score
Status
Chromosome 7
Chromosomal Location 25161132-25177028 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 25171339 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 375 (N375I)
Ref Sequence ENSEMBL: ENSMUSP00000145590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098666] [ENSMUST00000098668] [ENSMUST00000098669] [ENSMUST00000205308] [ENSMUST00000206171] [ENSMUST00000206676] [ENSMUST00000206687] [ENSMUST00000206583]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000098666
AA Change: N375I

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000096263
Gene: ENSMUSG00000074272
AA Change: N375I

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 possibly damaging
Transcript: ENSMUST00000098668
AA Change: N195I

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000096265
Gene: ENSMUSG00000074272
AA Change: N195I

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 probably benign
Transcript: ENSMUST00000098669
AA Change: N375I

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000096266
Gene: ENSMUSG00000074272
AA Change: N375I

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 possibly damaging
Transcript: ENSMUST00000205308
AA Change: N195I

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000206171
AA Change: N375I

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206300
Predicted Effect possibly damaging
Transcript: ENSMUST00000206676
AA Change: N375I

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000206687
AA Change: N195I

PolyPhen 2 Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206483
Predicted Effect probably benign
Transcript: ENSMUST00000206583
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206981
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206717
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: 8 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Gphn C A 12: 78,672,941 (GRCm39) Q486K possibly damaging Het
Hspa4 C T 11: 53,161,860 (GRCm39) V431I possibly damaging Het
Hycc2 A G 1: 58,574,641 (GRCm39) V300A possibly damaging Het
Pbrm1 A G 14: 30,774,205 (GRCm39) E457G probably damaging Het
Tcerg1 T C 18: 42,669,407 (GRCm39) S457P probably benign Het
Usp32 T A 11: 84,949,951 (GRCm39) probably null Het
Vcan G T 13: 89,851,845 (GRCm39) F1038L probably benign Het
Xrcc6 T C 15: 81,901,401 (GRCm39) probably null Het
Other mutations in Ceacam1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01766:Ceacam1 APN 7 25,171,420 (GRCm39) missense probably damaging 1.00
IGL02094:Ceacam1 APN 7 25,173,968 (GRCm39) missense probably damaging 1.00
IGL02869:Ceacam1 APN 7 25,175,966 (GRCm39) missense probably benign 0.07
IGL03325:Ceacam1 APN 7 25,175,912 (GRCm39) missense possibly damaging 0.83
PIT4445001:Ceacam1 UTSW 7 25,175,881 (GRCm39) missense probably damaging 1.00
PIT4810001:Ceacam1 UTSW 7 25,171,400 (GRCm39) missense probably damaging 1.00
R0464:Ceacam1 UTSW 7 25,171,442 (GRCm39) missense possibly damaging 0.64
R1270:Ceacam1 UTSW 7 25,165,739 (GRCm39) splice site probably null
R1771:Ceacam1 UTSW 7 25,171,469 (GRCm39) missense probably benign 0.17
R1819:Ceacam1 UTSW 7 25,163,285 (GRCm39) missense possibly damaging 0.68
R1964:Ceacam1 UTSW 7 25,174,133 (GRCm39) missense probably benign 0.13
R2048:Ceacam1 UTSW 7 25,176,113 (GRCm39) missense probably benign 0.09
R2760:Ceacam1 UTSW 7 25,176,899 (GRCm39) missense probably damaging 0.99
R2857:Ceacam1 UTSW 7 25,173,442 (GRCm39) missense probably damaging 0.96
R2859:Ceacam1 UTSW 7 25,173,442 (GRCm39) missense probably damaging 0.96
R3546:Ceacam1 UTSW 7 25,171,339 (GRCm39) missense probably benign 0.07
R4471:Ceacam1 UTSW 7 25,174,025 (GRCm39) missense possibly damaging 0.93
R4606:Ceacam1 UTSW 7 25,173,951 (GRCm39) missense probably damaging 0.97
R4810:Ceacam1 UTSW 7 25,173,945 (GRCm39) makesense probably null
R5291:Ceacam1 UTSW 7 25,171,256 (GRCm39) missense probably damaging 0.99
R5405:Ceacam1 UTSW 7 25,163,290 (GRCm39) missense probably benign 0.41
R5423:Ceacam1 UTSW 7 25,173,951 (GRCm39) missense probably benign 0.01
R5851:Ceacam1 UTSW 7 25,174,025 (GRCm39) missense possibly damaging 0.70
R5967:Ceacam1 UTSW 7 25,174,167 (GRCm39) missense probably damaging 0.97
R6216:Ceacam1 UTSW 7 25,171,421 (GRCm39) missense probably benign 0.19
R6235:Ceacam1 UTSW 7 25,171,217 (GRCm39) splice site probably null
R6323:Ceacam1 UTSW 7 25,174,076 (GRCm39) missense probably damaging 1.00
R6545:Ceacam1 UTSW 7 25,173,279 (GRCm39) missense probably damaging 1.00
R7371:Ceacam1 UTSW 7 25,174,145 (GRCm39) missense possibly damaging 0.95
R7760:Ceacam1 UTSW 7 25,171,450 (GRCm39) missense probably damaging 1.00
R7790:Ceacam1 UTSW 7 25,173,375 (GRCm39) missense probably damaging 1.00
R7869:Ceacam1 UTSW 7 25,175,954 (GRCm39) missense probably damaging 0.97
R7934:Ceacam1 UTSW 7 25,163,220 (GRCm39) missense possibly damaging 0.68
R8189:Ceacam1 UTSW 7 25,173,343 (GRCm39) missense probably damaging 0.96
R8907:Ceacam1 UTSW 7 25,171,444 (GRCm39) missense possibly damaging 0.88
R8967:Ceacam1 UTSW 7 25,163,297 (GRCm39) missense possibly damaging 0.48
R9055:Ceacam1 UTSW 7 25,171,299 (GRCm39) missense probably damaging 1.00
R9149:Ceacam1 UTSW 7 25,173,360 (GRCm39) missense possibly damaging 0.94
R9529:Ceacam1 UTSW 7 25,171,231 (GRCm39) missense possibly damaging 0.92
X0028:Ceacam1 UTSW 7 25,175,845 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06