Incidental Mutation 'IGL02070:Card14'
ID 185796
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Card14
Ensembl Gene ENSMUSG00000013483
Gene Name caspase recruitment domain family, member 14
Synonyms Bimp2, CARMA2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL02070
Quality Score
Status
Chromosome 11
Chromosomal Location 119198594-119236201 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 119235530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 988 (E988A)
Ref Sequence ENSEMBL: ENSMUSP00000101857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005173] [ENSMUST00000053245] [ENSMUST00000100172] [ENSMUST00000106250] [ENSMUST00000136523]
AlphaFold Q99KF0
Predicted Effect probably benign
Transcript: ENSMUST00000005173
SMART Domains Protein: ENSMUSP00000005173
Gene: ENSMUSG00000005043

DomainStartEndE-ValueType
Pfam:Sulfatase 23 328 2.6e-60 PFAM
Pfam:Phosphodiest 25 287 5.2e-8 PFAM
low complexity region 348 357 N/A INTRINSIC
Pfam:DUF4976 400 477 1.5e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000053245
AA Change: E988A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053665
Gene: ENSMUSG00000013483
AA Change: E988A

DomainStartEndE-ValueType
Pfam:CARD 20 106 4.1e-25 PFAM
coiled coil region 126 173 N/A INTRINSIC
low complexity region 240 250 N/A INTRINSIC
low complexity region 262 275 N/A INTRINSIC
coiled coil region 280 377 N/A INTRINSIC
low complexity region 438 450 N/A INTRINSIC
low complexity region 473 483 N/A INTRINSIC
low complexity region 541 551 N/A INTRINSIC
PDZ 578 657 5.51e-3 SMART
Blast:SH3 676 735 4e-25 BLAST
low complexity region 736 746 N/A INTRINSIC
low complexity region 816 825 N/A INTRINSIC
Blast:GuKc 826 989 4e-63 BLAST
SCOP:d1kjwa2 855 994 2e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000100172
SMART Domains Protein: ENSMUSP00000097748
Gene: ENSMUSG00000005043

DomainStartEndE-ValueType
Pfam:Sulfatase 23 250 1.7e-35 PFAM
Pfam:Phosphodiest 25 237 2.7e-8 PFAM
low complexity region 311 329 N/A INTRINSIC
low complexity region 395 408 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106250
AA Change: E988A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101857
Gene: ENSMUSG00000013483
AA Change: E988A

DomainStartEndE-ValueType
Pfam:CARD 20 106 2.8e-25 PFAM
coiled coil region 126 173 N/A INTRINSIC
low complexity region 240 250 N/A INTRINSIC
low complexity region 262 275 N/A INTRINSIC
coiled coil region 280 377 N/A INTRINSIC
low complexity region 438 450 N/A INTRINSIC
low complexity region 473 483 N/A INTRINSIC
low complexity region 541 551 N/A INTRINSIC
PDZ 578 657 5.51e-3 SMART
Blast:SH3 676 735 4e-25 BLAST
low complexity region 736 746 N/A INTRINSIC
low complexity region 816 825 N/A INTRINSIC
Blast:GuKc 826 989 4e-63 BLAST
SCOP:d1kjwa2 855 994 2e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126132
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133507
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147167
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151052
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141540
Predicted Effect probably benign
Transcript: ENSMUST00000136523
SMART Domains Protein: ENSMUSP00000115587
Gene: ENSMUSG00000005043

DomainStartEndE-ValueType
PDB:4MIV|H 1 30 1e-5 PDB
low complexity region 40 56 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a caspase recruitment domain-containing protein that is a member of the membrane-associated guanylate kinase (MAGUK) family of proteins. Members of this protein family are scaffold proteins that are involved in a diverse array of cellular processes including cellular adhesion, signal transduction and cell polarity control. This protein has been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 A G 10: 14,343,336 (GRCm39) Y204H probably damaging Het
Akap13 C A 7: 75,316,293 (GRCm39) T583K probably benign Het
Alms1 C A 6: 85,628,385 (GRCm39) Q2948K possibly damaging Het
Auts2 C T 5: 131,499,259 (GRCm39) R327Q probably damaging Het
Ccl25 T C 8: 4,398,700 (GRCm39) probably benign Het
Cttnbp2nl A C 3: 104,918,582 (GRCm39) V86G probably damaging Het
Cyb5r2 G A 7: 107,350,394 (GRCm39) T213I probably damaging Het
Ear6 A G 14: 52,091,903 (GRCm39) H150R probably damaging Het
Ecm2 T C 13: 49,671,846 (GRCm39) C116R probably damaging Het
Gabrr2 G T 4: 33,095,340 (GRCm39) E385* probably null Het
Hyal5 T A 6: 24,876,961 (GRCm39) V278D probably damaging Het
Mboat1 T C 13: 30,408,380 (GRCm39) L181P probably benign Het
Mdm1 A G 10: 117,982,523 (GRCm39) I53V probably damaging Het
Mfrp T C 9: 44,015,986 (GRCm39) Y368H probably benign Het
Myo1b A G 1: 51,833,496 (GRCm39) V365A probably damaging Het
Nexmif G T X: 103,126,817 (GRCm39) H1509Q probably benign Het
Nlrp4a G T 7: 26,148,703 (GRCm39) K103N possibly damaging Het
Obox6 G A 7: 15,568,804 (GRCm39) S24L probably damaging Het
Optc T A 1: 133,828,914 (GRCm39) I178F probably damaging Het
Or4p22 T A 2: 88,317,346 (GRCm39) I90N probably damaging Het
Or56a42-ps1 G T 7: 104,776,254 (GRCm39) L85I probably benign Het
Pcdh15 T A 10: 74,466,700 (GRCm39) N1535K probably benign Het
Pcdhb19 A T 18: 37,631,597 (GRCm39) N464I probably damaging Het
Pcsk5 C T 19: 17,416,406 (GRCm39) V1681I probably benign Het
Phf8-ps T C 17: 33,285,104 (GRCm39) E566G probably damaging Het
Pknox1 T A 17: 31,822,339 (GRCm39) probably benign Het
Ppa2 T C 3: 133,083,623 (GRCm39) F327S probably damaging Het
Rab39b G T X: 74,618,309 (GRCm39) L174M probably damaging Het
Reep5 A T 18: 34,505,526 (GRCm39) Y48* probably null Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sar1a T A 10: 61,520,673 (GRCm39) probably benign Het
Satb1 T A 17: 52,047,095 (GRCm39) D740V probably damaging Het
Sema3f G A 9: 107,569,440 (GRCm39) T128I probably damaging Het
Snx1 A T 9: 66,005,731 (GRCm39) S129R probably damaging Het
Sptb T A 12: 76,652,313 (GRCm39) K1641N possibly damaging Het
Sptbn1 T C 11: 30,095,979 (GRCm39) E305G probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Taar7d A T 10: 23,904,152 (GRCm39) I345F probably benign Het
Tes T C 6: 17,099,779 (GRCm39) L258P probably damaging Het
Trav9-4 A T 14: 53,913,817 (GRCm39) T24S possibly damaging Het
Utp20 A G 10: 88,657,739 (GRCm39) probably benign Het
Vcam1 T A 3: 115,919,646 (GRCm39) T207S probably benign Het
Xkrx T C X: 133,051,311 (GRCm39) S447G probably benign Het
Zfp318 T C 17: 46,707,644 (GRCm39) L234P probably damaging Het
Other mutations in Card14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01916:Card14 APN 11 119,233,971 (GRCm39) missense probably benign 0.10
IGL02632:Card14 APN 11 119,229,730 (GRCm39) missense probably benign 0.02
R0183:Card14 UTSW 11 119,217,524 (GRCm39) missense probably damaging 1.00
R0614:Card14 UTSW 11 119,213,653 (GRCm39) missense probably benign
R0766:Card14 UTSW 11 119,215,002 (GRCm39) missense probably damaging 1.00
R1033:Card14 UTSW 11 119,229,196 (GRCm39) missense probably damaging 1.00
R1705:Card14 UTSW 11 119,229,232 (GRCm39) missense possibly damaging 0.77
R1907:Card14 UTSW 11 119,222,085 (GRCm39) missense probably benign 0.00
R1992:Card14 UTSW 11 119,212,647 (GRCm39) critical splice acceptor site probably null
R3729:Card14 UTSW 11 119,224,758 (GRCm39) missense probably damaging 1.00
R4472:Card14 UTSW 11 119,224,784 (GRCm39) missense possibly damaging 0.77
R4578:Card14 UTSW 11 119,217,567 (GRCm39) missense probably benign 0.20
R4763:Card14 UTSW 11 119,234,001 (GRCm39) missense probably damaging 0.99
R5117:Card14 UTSW 11 119,229,076 (GRCm39) missense probably damaging 0.99
R5386:Card14 UTSW 11 119,208,115 (GRCm39) missense probably damaging 1.00
R6457:Card14 UTSW 11 119,230,428 (GRCm39) nonsense probably null
R6622:Card14 UTSW 11 119,224,814 (GRCm39) missense probably benign 0.06
R6998:Card14 UTSW 11 119,213,725 (GRCm39) missense probably damaging 1.00
R7269:Card14 UTSW 11 119,228,573 (GRCm39) missense probably damaging 1.00
R7304:Card14 UTSW 11 119,228,573 (GRCm39) missense probably damaging 1.00
R7310:Card14 UTSW 11 119,217,005 (GRCm39) missense probably null 1.00
R7612:Card14 UTSW 11 119,224,405 (GRCm39) missense possibly damaging 0.52
R7689:Card14 UTSW 11 119,216,328 (GRCm39) missense possibly damaging 0.66
R8181:Card14 UTSW 11 119,212,718 (GRCm39) missense probably damaging 1.00
R8188:Card14 UTSW 11 119,228,623 (GRCm39) missense probably damaging 1.00
R8493:Card14 UTSW 11 119,224,435 (GRCm39) critical splice donor site probably null
R8499:Card14 UTSW 11 119,222,070 (GRCm39) missense probably benign 0.10
R8924:Card14 UTSW 11 119,216,930 (GRCm39) missense possibly damaging 0.89
R9133:Card14 UTSW 11 119,231,835 (GRCm39) missense probably damaging 0.98
R9253:Card14 UTSW 11 119,212,759 (GRCm39) missense probably benign
R9464:Card14 UTSW 11 119,208,031 (GRCm39) missense probably benign 0.04
Z1177:Card14 UTSW 11 119,231,887 (GRCm39) missense probably damaging 0.98
Posted On 2014-05-07