Incidental Mutation 'IGL01483:Ceacam12'
ID88680
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ceacam12
Ensembl Gene ENSMUSG00000030366
Gene Namecarcinoembryonic antigen-related cell adhesion molecule 12
SynonymsCeacam12-C1, Ceacam12-C3, 1600031J20Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01483
Quality Score
Status
Chromosome7
Chromosomal Location18065929-18077986 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 18067521 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 142 (R142G)
Ref Sequence ENSEMBL: ENSMUSP00000104127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032520] [ENSMUST00000108483] [ENSMUST00000108487]
Predicted Effect probably benign
Transcript: ENSMUST00000032520
AA Change: R142G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000032520
Gene: ENSMUSG00000030366
AA Change: R142G

DomainStartEndE-ValueType
IG 40 141 7.77e-1 SMART
IG_like 159 260 4.78e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108483
AA Change: R142G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000104123
Gene: ENSMUSG00000030366
AA Change: R142G

DomainStartEndE-ValueType
IG 40 141 7.77e-1 SMART
IG_like 159 260 4.78e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108487
AA Change: R142G

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000104127
Gene: ENSMUSG00000030366
AA Change: R142G

DomainStartEndE-ValueType
IG 40 141 7.77e-1 SMART
IG_like 159 260 4.78e1 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008E08Rik G T 16: 90,554,313 noncoding transcript Het
2410089E03Rik T G 15: 8,187,107 I603S probably damaging Het
Abcb4 T C 5: 8,927,871 I483T probably damaging Het
Ank3 A T 10: 69,874,809 H388L probably damaging Het
Arhgap24 T C 5: 102,860,377 Y52H possibly damaging Het
Atf7ip A G 6: 136,587,459 N900S probably damaging Het
Bmp10 A T 6: 87,433,951 D242V probably damaging Het
Cilp2 T A 8: 69,882,846 I501F probably damaging Het
Dglucy T C 12: 100,853,217 V426A probably damaging Het
Dyrk1b A G 7: 28,182,676 D94G probably damaging Het
Erbb2 C T 11: 98,434,539 R898C probably damaging Het
Fbxo7 T C 10: 86,044,581 Y298H probably damaging Het
Gcg T C 2: 62,480,483 D25G possibly damaging Het
Gm11639 T C 11: 104,739,347 V968A probably benign Het
Helb A G 10: 120,111,138 V90A probably damaging Het
Krt40 T A 11: 99,542,727 E144D probably damaging Het
Lpo G A 11: 87,821,138 T31I probably benign Het
Mc5r A G 18: 68,339,244 I225V probably damaging Het
Mccc1 A G 3: 35,989,860 F245L probably damaging Het
Mindy4 A G 6: 55,216,685 D121G probably damaging Het
Nap1l4 A T 7: 143,527,316 probably null Het
Noc4l T A 5: 110,648,958 K486M probably damaging Het
Notum T C 11: 120,656,656 D271G probably damaging Het
Pan3 T A 5: 147,529,973 L550Q probably benign Het
Pde4dip A G 3: 97,754,149 S594P probably damaging Het
Pramef8 A T 4: 143,417,477 E131V probably damaging Het
Prr23a1 T G 9: 98,843,316 S244A probably benign Het
Rarb T C 14: 16,432,273 probably benign Het
Sh3d19 A G 3: 86,114,796 D511G probably benign Het
Slco6c1 T C 1: 97,128,107 N23S probably benign Het
Smarcc1 G T 9: 110,222,060 G983* probably null Het
Tbc1d22a A T 15: 86,391,203 Q442L probably benign Het
Tuba1b A G 15: 98,932,457 Y161H possibly damaging Het
Zdhhc14 G A 17: 5,712,458 M212I probably benign Het
Other mutations in Ceacam12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00577:Ceacam12 APN 7 18067261 missense probably damaging 1.00
IGL01505:Ceacam12 APN 7 18067432 missense probably damaging 0.98
IGL01540:Ceacam12 APN 7 18071802 intron probably benign
R0033:Ceacam12 UTSW 7 18069460 splice site probably benign
R0033:Ceacam12 UTSW 7 18069460 splice site probably benign
R1816:Ceacam12 UTSW 7 18071765 splice site probably null
R4227:Ceacam12 UTSW 7 18071753 missense probably benign 0.01
R4382:Ceacam12 UTSW 7 18066034 start gained probably benign
R4541:Ceacam12 UTSW 7 18071723 missense probably benign
R4651:Ceacam12 UTSW 7 18067434 missense probably damaging 1.00
R4652:Ceacam12 UTSW 7 18067434 missense probably damaging 1.00
R4831:Ceacam12 UTSW 7 18077380 splice site probably null
R5351:Ceacam12 UTSW 7 18067234 missense probably damaging 1.00
R5357:Ceacam12 UTSW 7 18077459 nonsense probably null
R5779:Ceacam12 UTSW 7 18069154 missense probably benign 0.29
R5893:Ceacam12 UTSW 7 18069374 missense probably damaging 1.00
R5946:Ceacam12 UTSW 7 18069206 missense probably damaging 1.00
R6151:Ceacam12 UTSW 7 18069105 missense probably benign 0.01
R6175:Ceacam12 UTSW 7 18067387 missense probably damaging 1.00
R6346:Ceacam12 UTSW 7 18069401 missense probably damaging 0.99
R6491:Ceacam12 UTSW 7 18069260 missense probably damaging 1.00
R6591:Ceacam12 UTSW 7 18069224 missense possibly damaging 0.53
R6691:Ceacam12 UTSW 7 18069224 missense possibly damaging 0.53
R8822:Ceacam12 UTSW 7 18069453 critical splice donor site probably benign
Z1177:Ceacam12 UTSW 7 18067515 missense probably damaging 1.00
Posted On2013-11-18