Incidental Mutation 'IGL01314:Necab1'
ID73797
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Necab1
Ensembl Gene ENSMUSG00000040536
Gene NameN-terminal EF-hand calcium binding protein 1
Synonyms1700003H21Rik, Efcbp1, NECAB1, STIP-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.111) question?
Stock #IGL01314
Quality Score
Status
Chromosome4
Chromosomal Location14952245-15149794 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 15005079 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 128 (E128D)
Ref Sequence ENSEMBL: ENSMUSP00000103908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041606] [ENSMUST00000108273]
Predicted Effect probably damaging
Transcript: ENSMUST00000041606
AA Change: E128D

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000038165
Gene: ENSMUSG00000040536
AA Change: E128D

DomainStartEndE-ValueType
low complexity region 4 25 N/A INTRINSIC
EFh 30 58 4.06e-2 SMART
EFh 64 92 6.56e0 SMART
coiled coil region 135 163 N/A INTRINSIC
coiled coil region 209 244 N/A INTRINSIC
Pfam:ABM 251 326 2.1e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108273
AA Change: E128D

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103908
Gene: ENSMUSG00000040536
AA Change: E128D

DomainStartEndE-ValueType
low complexity region 4 25 N/A INTRINSIC
EFh 30 58 4.06e-2 SMART
EFh 64 92 6.56e0 SMART
coiled coil region 135 163 N/A INTRINSIC
coiled coil region 209 244 N/A INTRINSIC
Pfam:ABM 251 326 2.4e-13 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430F08Rik A C 10: 100,573,611 D313E probably damaging Het
Adamts12 C T 15: 11,071,853 A161V probably benign Het
Bptf A T 11: 107,054,853 V2520E probably damaging Het
C87436 T C 6: 86,457,855 F395S probably damaging Het
Capn1 T C 19: 5,989,984 probably benign Het
Ceacam5 T A 7: 17,747,256 Y309* probably null Het
Clasp2 A G 9: 113,906,127 D1011G possibly damaging Het
Csmd3 A G 15: 47,849,755 Y1608H probably damaging Het
Dcaf1 T C 9: 106,834,191 I77T probably benign Het
Dcdc2a T C 13: 25,102,604 L170P probably damaging Het
Ddx28 A G 8: 106,010,580 F282S probably damaging Het
Egf A G 3: 129,686,260 I497T probably benign Het
Emsy A G 7: 98,593,455 V1159A probably benign Het
Fam46c T C 3: 100,473,174 K89E probably benign Het
Hk3 C A 13: 55,007,063 probably benign Het
Htt A G 5: 34,878,856 D2049G probably benign Het
Inpp5d C A 1: 87,683,750 S45* probably null Het
Irf8 A G 8: 120,753,380 Y119C probably damaging Het
Klk1b4 T C 7: 44,211,176 probably null Het
Macf1 A G 4: 123,486,720 S1273P probably damaging Het
Man2c1 A T 9: 57,141,819 H867L probably benign Het
Mgat4e T C 1: 134,541,449 T286A probably damaging Het
Mug2 T C 6: 122,081,279 F1267L possibly damaging Het
Olfr1331 G A 4: 118,869,131 V117I probably benign Het
Pds5a A G 5: 65,615,294 V1322A probably benign Het
Poc1b C T 10: 99,129,641 T144I probably damaging Het
Prcc T A 3: 87,870,080 N196Y probably damaging Het
Psma5 G A 3: 108,279,795 V237M possibly damaging Het
Rap1gds1 A G 3: 139,050,561 L11P probably damaging Het
Rapgef3 A G 15: 97,748,223 F132S probably damaging Het
Rgs13 T G 1: 144,171,441 D14A probably benign Het
Stxbp4 A G 11: 90,621,649 probably benign Het
Tcerg1 C A 18: 42,573,309 A1017D probably damaging Het
Tmem79 T C 3: 88,332,576 I276V possibly damaging Het
Tmem94 C A 11: 115,790,009 H113N probably damaging Het
Vil1 G A 1: 74,428,238 D715N probably damaging Het
Vmn2r96 A G 17: 18,582,964 T187A probably benign Het
Zfhx4 T A 3: 5,413,094 S3590T probably damaging Het
Other mutations in Necab1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Necab1 APN 4 15052656 missense probably damaging 1.00
IGL01751:Necab1 APN 4 14978171 missense probably damaging 1.00
IGL02098:Necab1 APN 4 14955892 utr 3 prime probably benign
IGL02381:Necab1 APN 4 15148812 splice site probably null
IGL03247:Necab1 APN 4 14960046 missense probably benign
R0095:Necab1 UTSW 4 14960027 missense possibly damaging 0.95
R0095:Necab1 UTSW 4 14960027 missense possibly damaging 0.95
R0321:Necab1 UTSW 4 14960083 missense probably damaging 0.99
R0698:Necab1 UTSW 4 15005041 missense probably benign 0.26
R1125:Necab1 UTSW 4 15111257 missense probably damaging 1.00
R1251:Necab1 UTSW 4 15111192 critical splice donor site probably null
R1400:Necab1 UTSW 4 14975185 missense possibly damaging 0.71
R1505:Necab1 UTSW 4 14960047 missense probably benign 0.26
R1771:Necab1 UTSW 4 15111267 missense probably damaging 1.00
R1776:Necab1 UTSW 4 15111267 missense probably damaging 1.00
R2080:Necab1 UTSW 4 15140219 splice site probably benign
R4705:Necab1 UTSW 4 15052628 missense probably damaging 1.00
R4780:Necab1 UTSW 4 14989248 missense probably benign 0.18
R4795:Necab1 UTSW 4 15111208 missense possibly damaging 0.84
R4972:Necab1 UTSW 4 14978216 missense probably damaging 1.00
R5009:Necab1 UTSW 4 14947503 unclassified probably benign
R6102:Necab1 UTSW 4 14989211 missense probably benign 0.05
R6968:Necab1 UTSW 4 14957852 missense probably damaging 1.00
R7458:Necab1 UTSW 4 15111244 missense possibly damaging 0.90
R8130:Necab1 UTSW 4 15005073 missense probably damaging 1.00
Posted On2013-10-07