Incidental Mutation 'IGL00090:Necab3'
ID 1827
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Necab3
Ensembl Gene ENSMUSG00000027489
Gene Name N-terminal EF-hand calcium binding protein 3
Synonyms Apba2bp, XB51, 2900010M17Rik, Nip1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # IGL00090
Quality Score
Status
Chromosome 2
Chromosomal Location 154386319-154400810 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to T at 154389488 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000895] [ENSMUST00000045116] [ENSMUST00000104928] [ENSMUST00000109709] [ENSMUST00000109716] [ENSMUST00000125793] [ENSMUST00000226583]
AlphaFold Q9D6J4
Predicted Effect probably benign
Transcript: ENSMUST00000000895
SMART Domains Protein: ENSMUSP00000000895
Gene: ENSMUSG00000027489

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: 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
SMART Domains Protein: ENSMUSP00000105338
Gene: ENSMUSG00000027489

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 benign
Transcript: ENSMUST00000125793
SMART Domains Protein: ENSMUSP00000117090
Gene: ENSMUSG00000027489

DomainStartEndE-ValueType
low complexity region 146 168 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130824
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135641
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T C 12: 118,854,345 (GRCm39) T857A probably benign Het
Abcc9 A T 6: 142,578,916 (GRCm39) probably benign Het
Adam11 A G 11: 102,667,657 (GRCm39) T709A probably benign Het
Adgre1 A G 17: 57,757,055 (GRCm39) I771V probably benign Het
Adgrv1 T G 13: 81,553,527 (GRCm39) probably null Het
Adgrv1 C T 13: 81,726,220 (GRCm39) D602N probably damaging Het
Adra1d G T 2: 131,403,597 (GRCm39) D164E possibly damaging Het
Ago3 A G 4: 126,265,334 (GRCm39) L319P probably damaging Het
Aim2 A G 1: 173,283,031 (GRCm39) S38G probably benign Het
Apoh A G 11: 108,286,660 (GRCm39) D28G probably benign Het
Atm C T 9: 53,435,743 (GRCm39) R189K probably damaging Het
Bbs1 T C 19: 4,943,038 (GRCm39) T451A probably benign Het
BC034090 T C 1: 155,101,193 (GRCm39) D719G possibly damaging Het
Bcr T C 10: 74,992,903 (GRCm39) probably benign Het
Bmp2 A T 2: 133,402,947 (GRCm39) Q166L probably benign Het
Bms1 A T 6: 118,381,544 (GRCm39) S665T probably benign Het
Ccser1 A T 6: 62,357,126 (GRCm39) T855S possibly damaging Het
Cfap36 C T 11: 29,172,875 (GRCm39) V217M probably benign Het
Clca3b T C 3: 144,542,393 (GRCm39) N470D probably damaging Het
Cort A G 4: 149,209,752 (GRCm39) F100S probably damaging Het
Cyp4f14 G T 17: 33,133,540 (GRCm39) D105E probably benign Het
Dnah1 A G 14: 31,009,830 (GRCm39) S1913P probably benign Het
Fam91a1 A T 15: 58,302,584 (GRCm39) H308L probably damaging Het
Fbn1 A C 2: 125,166,867 (GRCm39) I2016M probably damaging Het
Fibcd1 T A 2: 31,723,886 (GRCm39) Q251L possibly damaging Het
Flg2 T A 3: 93,109,416 (GRCm39) Y481* probably null Het
Ly9 A T 1: 171,421,019 (GRCm39) I624N probably damaging Het
Mapt C T 11: 104,213,311 (GRCm39) S301L probably damaging Het
Meiob G A 17: 25,042,603 (GRCm39) V144I probably benign Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Myo5a T A 9: 75,068,779 (GRCm39) C660* probably null Het
Nr2c2ap A G 8: 70,585,279 (GRCm39) Y93C probably damaging Het
Nxpe5 A G 5: 138,247,096 (GRCm39) D356G probably benign Het
Or10ak9 T A 4: 118,726,484 (GRCm39) Y168N probably damaging Het
Or2w25 A T 11: 59,504,147 (GRCm39) Y119F possibly damaging Het
Plce1 A G 19: 38,734,232 (GRCm39) Q1544R probably damaging Het
Plppr4 T A 3: 117,115,869 (GRCm39) T605S probably benign Het
Poglut1 C A 16: 38,363,278 (GRCm39) W167L possibly damaging Het
Pou2f1 G T 1: 165,729,867 (GRCm39) R162S probably damaging Het
Ptprf A G 4: 118,080,417 (GRCm39) probably benign Het
Reln C A 5: 22,244,563 (GRCm39) G805V possibly damaging Het
Rexo2 A G 9: 48,385,747 (GRCm39) S126P probably damaging Het
Robo4 A G 9: 37,322,400 (GRCm39) S844G probably damaging Het
Scn7a A G 2: 66,513,671 (GRCm39) probably benign Het
Sdc1 A G 12: 8,840,459 (GRCm39) T75A possibly damaging Het
Slc38a4 C T 15: 96,917,690 (GRCm39) E12K probably benign Het
Spata31h1 T G 10: 82,119,586 (GRCm39) M4475L probably benign Het
Tbck T C 3: 132,448,854 (GRCm39) probably null Het
Tex2 A T 11: 106,459,361 (GRCm39) V23E probably damaging Het
Zfp770 A G 2: 114,026,413 (GRCm39) V552A probably benign Het
Zfyve26 T C 12: 79,296,234 (GRCm39) probably benign Het
Other mutations in Necab3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01515:Necab3 APN 2 154,396,611 (GRCm39) missense probably damaging 1.00
IGL02438:Necab3 APN 2 154,387,964 (GRCm39) missense probably damaging 1.00
IGL03150:Necab3 APN 2 154,396,662 (GRCm39) missense probably damaging 1.00
R0092:Necab3 UTSW 2 154,400,659 (GRCm39) missense possibly damaging 0.89
R0102:Necab3 UTSW 2 154,387,232 (GRCm39) missense probably damaging 1.00
R0102:Necab3 UTSW 2 154,387,232 (GRCm39) missense probably damaging 1.00
R0219:Necab3 UTSW 2 154,388,013 (GRCm39) missense probably benign 0.17
R0656:Necab3 UTSW 2 154,388,223 (GRCm39) missense probably null 0.28
R1728:Necab3 UTSW 2 154,388,795 (GRCm39) missense probably benign 0.09
R1729:Necab3 UTSW 2 154,388,795 (GRCm39) missense probably benign 0.09
R2192:Necab3 UTSW 2 154,388,999 (GRCm39) missense possibly damaging 0.62
R4622:Necab3 UTSW 2 154,397,502 (GRCm39) critical splice donor site probably null
R5434:Necab3 UTSW 2 154,389,379 (GRCm39) missense probably damaging 1.00
R5577:Necab3 UTSW 2 154,387,076 (GRCm39) splice site probably null
R6603:Necab3 UTSW 2 154,396,842 (GRCm39) missense probably damaging 1.00
R7792:Necab3 UTSW 2 154,388,200 (GRCm39) missense probably damaging 1.00
R8195:Necab3 UTSW 2 154,389,363 (GRCm39) missense probably benign 0.05
R8831:Necab3 UTSW 2 154,396,607 (GRCm39) missense probably damaging 1.00
Posted On 2011-07-12