Incidental Mutation 'IGL03287:Cib4'
ID415759
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cib4
Ensembl Gene ENSMUSG00000053194
Gene Namecalcium and integrin binding family member 4
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.526) question?
Stock #IGL03287
Quality Score
Status
Chromosome5
Chromosomal Location30485583-30545836 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 30488543 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 127 (L127P)
Ref Sequence ENSEMBL: ENSMUSP00000066222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031078] [ENSMUST00000065486] [ENSMUST00000114743] [ENSMUST00000199129]
Predicted Effect probably benign
Transcript: ENSMUST00000031078
SMART Domains Protein: ENSMUSP00000031078
Gene: ENSMUSG00000029182

DomainStartEndE-ValueType
Pfam:DUF2475 19 84 2.3e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000065486
AA Change: L127P

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000066222
Gene: ENSMUSG00000053194
AA Change: L127P

DomainStartEndE-ValueType
EFh 101 129 6.31e-1 SMART
EFh 143 171 2.22e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114743
SMART Domains Protein: ENSMUSP00000110391
Gene: ENSMUSG00000029182

DomainStartEndE-ValueType
Pfam:DUF2475 19 84 1e-26 PFAM
low complexity region 125 137 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199129
SMART Domains Protein: ENSMUSP00000142583
Gene: ENSMUSG00000029182

DomainStartEndE-ValueType
Pfam:DUF2475 19 84 3.7e-23 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik A T 5: 114,870,176 D17V probably damaging Het
Cdh5 T A 8: 104,128,115 V225E probably damaging Het
Cfap52 C T 11: 67,935,976 probably benign Het
Fbln2 A G 6: 91,233,494 H140R probably damaging Het
Grm8 A G 6: 27,760,255 F359L possibly damaging Het
Kat7 A T 11: 95,300,109 D150E probably damaging Het
Kif1b A G 4: 149,214,981 I944T possibly damaging Het
Krt87 T C 15: 101,432,337 probably benign Het
Mast1 T C 8: 84,913,353 S1142G probably benign Het
Neb A G 2: 52,137,323 Y6889H probably damaging Het
Olfr1 A T 11: 73,396,019 M1K probably null Het
Olfr1337 A G 4: 118,782,354 V77A possibly damaging Het
Plk4 A T 3: 40,805,118 I150L probably benign Het
Scn5a T C 9: 119,489,778 D1598G probably damaging Het
Skor2 A G 18: 76,876,135 K925E probably damaging Het
Slc25a29 A T 12: 108,831,209 F22L possibly damaging Het
Slc27a2 A G 2: 126,553,392 T80A probably damaging Het
Tlr3 A G 8: 45,402,780 V121A probably benign Het
Tubgcp3 A T 8: 12,639,630 D545E possibly damaging Het
Zdhhc8 T C 16: 18,225,100 Y412C probably benign Het
Zmynd12 A G 4: 119,453,579 E328G probably damaging Het
Other mutations in Cib4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02892:Cib4 APN 5 30544707 splice site probably benign
R0973:Cib4 UTSW 5 30488594 missense probably damaging 1.00
R2847:Cib4 UTSW 5 30488588 missense probably damaging 0.99
R6767:Cib4 UTSW 5 30534245 missense probably benign 0.00
R7206:Cib4 UTSW 5 30545766 nonsense probably null
R8133:Cib4 UTSW 5 30534218 missense probably benign
Posted On2016-08-02