Incidental Mutation 'IGL01515:Necab3'
ID89340
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Necab3
Ensembl Gene ENSMUSG00000027489
Gene NameN-terminal EF-hand calcium binding protein 3
SynonymsApba2bp, XB51, 2900010M17Rik, Nip1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.129) question?
Stock #IGL01515
Quality Score
Status
Chromosome2
Chromosomal Location154544399-154558890 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 154554691 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 72 (S72T)
Ref Sequence ENSEMBL: ENSMUSP00000117090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000894] [ENSMUST00000000895] [ENSMUST00000045116] [ENSMUST00000103145] [ENSMUST00000104928] [ENSMUST00000109709] [ENSMUST00000109716] [ENSMUST00000125793] [ENSMUST00000226583]
Predicted Effect probably benign
Transcript: ENSMUST00000000894
SMART Domains Protein: ENSMUSP00000000894
Gene: ENSMUSG00000027490

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:E2F_TDP 77 142 1.1e-25 PFAM
low complexity region 156 173 N/A INTRINSIC
low complexity region 273 295 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000000895
AA Change: S106T

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000000895
Gene: ENSMUSG00000027489
AA Change: S106T

DomainStartEndE-ValueType
Pfam:EF-hand_1 31 58 7.3e-8 PFAM
Pfam:EF-hand_5 32 57 4.6e-9 PFAM
low complexity region 180 203 N/A INTRINSIC
coiled coil region 209 237 N/A INTRINSIC
Pfam:ABM 252 327 4.4e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000045116
SMART Domains Protein: ENSMUSP00000035523
Gene: ENSMUSG00000038523

DomainStartEndE-ValueType
Pfam:Bclt 1 194 2.1e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103145
SMART Domains Protein: ENSMUSP00000099434
Gene: ENSMUSG00000027490

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
low complexity region 62 82 N/A INTRINSIC
E2F_TDP 122 187 1.63e-30 SMART
Pfam:E2F_CC-MB 201 294 2.2e-37 PFAM
low complexity region 318 340 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000104928
SMART Domains Protein: ENSMUSP00000100532
Gene: ENSMUSG00000078129

DomainStartEndE-ValueType
ACTIN 2 345 2.52e-42 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109709
SMART Domains Protein: ENSMUSP00000105331
Gene: ENSMUSG00000038523

DomainStartEndE-ValueType
Pfam:Bclt 1 207 1.9e-105 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109716
AA Change: S106T

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000105338
Gene: ENSMUSG00000027489
AA Change: S106T

DomainStartEndE-ValueType
Pfam:EF-hand_1 31 59 6.9e-8 PFAM
Pfam:EF-hand_5 32 57 1.7e-9 PFAM
low complexity region 180 203 N/A INTRINSIC
Pfam:ABM 232 303 2.7e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124382
Predicted Effect probably damaging
Transcript: ENSMUST00000125793
AA Change: S72T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000117090
Gene: ENSMUSG00000027489
AA Change: S72T

DomainStartEndE-ValueType
low complexity region 146 168 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135530
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135641
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149725
Predicted Effect probably benign
Transcript: ENSMUST00000226583
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with the amino-terminal domain of the neuron-specific X11-like protein (X11L), inhibits the association of X11L with amyloid precursor protein through a non-competitive mechanism, and abolishes the suppression of beta-amyloid production by X11L. This protein, together with X11L, may play an important role in the regulatory system of amyloid precursor protein metabolism and beta-amyloid generation. The protein is phosphorylated by NIMA-related expressed kinase 2, and localizes to the Golgi apparatus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A T 15: 91,163,086 V588E probably damaging Het
Ar C T X: 98,251,847 probably benign Het
B4galt7 C A 13: 55,609,222 Q243K probably damaging Het
Cdhr2 A T 13: 54,718,238 T284S probably benign Het
Chdh G A 14: 30,036,886 R596H probably damaging Het
Cyp2r1 T C 7: 114,552,712 probably benign Het
Cyp3a44 A T 5: 145,799,418 L74* probably null Het
Dnah8 A T 17: 30,648,485 I304L probably benign Het
Fam171b G A 2: 83,880,233 E750K probably damaging Het
Fbxo38 T A 18: 62,518,571 E554D probably benign Het
Fnd3c2 T C X: 106,238,487 K721E probably damaging Het
Gpam A G 19: 55,087,451 L243P probably damaging Het
Heph A G X: 96,558,100 E1032G probably damaging Het
Igf1r T A 7: 68,207,452 V1054E probably damaging Het
Inpp4b A G 8: 81,952,711 S331G possibly damaging Het
Ints11 A T 4: 155,875,232 I99F probably damaging Het
Jak3 G A 8: 71,680,562 probably null Het
Ky A G 9: 102,542,105 Y437C probably benign Het
Lin28a A G 4: 134,018,709 probably null Het
Macc1 A C 12: 119,450,371 K761Q probably damaging Het
Myom2 A G 8: 15,122,655 D1194G probably benign Het
Naga C A 15: 82,330,159 V384F probably benign Het
Olfr1197 G A 2: 88,729,008 T197I probably benign Het
Olfr641 A G 7: 104,039,976 Y60C probably benign Het
Ptpn13 C T 5: 103,556,113 S1337L probably benign Het
Slitrk2 C T X: 66,655,642 P580S probably damaging Het
Tpsg1 A G 17: 25,373,962 D67G probably damaging Het
Tsc22d1 T C 14: 76,505,299 probably null Het
Other mutations in Necab3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Necab3 APN 2 154547568 unclassified probably benign
IGL02438:Necab3 APN 2 154546044 missense probably damaging 1.00
IGL03150:Necab3 APN 2 154554742 missense probably damaging 1.00
R0092:Necab3 UTSW 2 154558739 missense possibly damaging 0.89
R0102:Necab3 UTSW 2 154545312 missense probably damaging 1.00
R0102:Necab3 UTSW 2 154545312 missense probably damaging 1.00
R0219:Necab3 UTSW 2 154546093 missense probably benign 0.17
R0656:Necab3 UTSW 2 154546303 missense probably null 0.28
R1728:Necab3 UTSW 2 154546875 missense probably benign 0.09
R1729:Necab3 UTSW 2 154546875 missense probably benign 0.09
R2192:Necab3 UTSW 2 154547079 missense possibly damaging 0.62
R4622:Necab3 UTSW 2 154555582 critical splice donor site probably null
R5434:Necab3 UTSW 2 154547459 missense probably damaging 1.00
R5577:Necab3 UTSW 2 154545156 unclassified probably null
R6603:Necab3 UTSW 2 154554922 missense probably damaging 1.00
R7792:Necab3 UTSW 2 154546280 missense probably damaging 1.00
Posted On2013-12-03