Incidental Mutation 'R6968:Necab1'
ID 542094
Institutional Source Beutler Lab
Gene Symbol Necab1
Ensembl Gene ENSMUSG00000040536
Gene Name N-terminal EF-hand calcium binding protein 1
Synonyms NECAB1, STIP-1, Efcbp1, 1700003H21Rik
MMRRC Submission 045078-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R6968 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 14952245-15149794 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14957852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 335 (E335G)
Ref Sequence ENSEMBL: ENSMUSP00000103908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041606] [ENSMUST00000108273]
AlphaFold Q8BG18
Predicted Effect probably damaging
Transcript: ENSMUST00000041606
AA Change: E335G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038165
Gene: ENSMUSG00000040536
AA Change: E335G

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: E335G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103908
Gene: ENSMUSG00000040536
AA Change: E335G

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.1%
Validation Efficiency 97% (57/59)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apip C T 2: 102,919,798 (GRCm39) L125F possibly damaging Het
Arfgef1 T C 1: 10,223,903 (GRCm39) Q1465R probably damaging Het
Arfgef1 G T 1: 10,223,904 (GRCm39) Q1465K probably damaging Het
Arhgef5 T C 6: 43,252,276 (GRCm39) V1009A probably benign Het
Asah2 A T 19: 31,989,913 (GRCm39) I489K probably benign Het
Bace1 A G 9: 45,766,263 (GRCm39) probably null Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Ccdc162 T C 10: 41,549,840 (GRCm39) T348A possibly damaging Het
Cdkn2aip C A 8: 48,166,922 (GRCm39) probably benign Het
Cep78 A C 19: 15,959,102 (GRCm39) F111V probably benign Het
Chd4 T A 6: 125,085,281 (GRCm39) L784Q probably damaging Het
Chrna6 C T 8: 27,896,683 (GRCm39) C398Y probably benign Het
Cmip T C 8: 118,103,895 (GRCm39) Y128H probably damaging Het
Cpne2 C T 8: 95,275,130 (GRCm39) P46L probably damaging Het
Cyp2w1 A G 5: 139,339,746 (GRCm39) Q112R probably damaging Het
Entpd3 A T 9: 120,389,722 (GRCm39) E336V probably benign Het
Fbxw28 A C 9: 109,159,856 (GRCm39) S197A probably benign Het
Foxk2 T C 11: 121,151,308 (GRCm39) F118L possibly damaging Het
Golm1 ACTTCTTCT ACTTCT 13: 59,797,390 (GRCm39) probably benign Het
Hinfp A C 9: 44,209,282 (GRCm39) S306A probably benign Het
Hspg2 T A 4: 137,262,467 (GRCm39) V1663E probably damaging Het
Inpp4b T C 8: 82,571,086 (GRCm39) I125T probably benign Het
Jag2 C T 12: 112,877,878 (GRCm39) E592K probably benign Het
Krt23 T A 11: 99,371,900 (GRCm39) E317V probably damaging Het
Ltbp2 C T 12: 84,835,857 (GRCm39) probably null Het
Mast4 G T 13: 102,934,586 (GRCm39) N152K probably damaging Het
Mast4 C T 13: 102,941,155 (GRCm39) V301I probably damaging Het
Mier2 G A 10: 79,376,476 (GRCm39) probably benign Het
Mmp9 A G 2: 164,794,860 (GRCm39) T584A probably benign Het
Nlrp9b T A 7: 19,783,433 (GRCm39) N925K probably damaging Het
Nr4a2 T C 2: 56,998,758 (GRCm39) probably null Het
Nrg2 T C 18: 36,329,499 (GRCm39) I239V probably benign Het
Nsun2 A G 13: 69,779,409 (GRCm39) D562G probably benign Het
Odad2 T C 18: 7,273,155 (GRCm39) probably null Het
Or1e31 A G 11: 73,690,205 (GRCm39) I126T possibly damaging Het
Ormdl3 T A 11: 98,474,941 (GRCm39) M1L probably benign Het
Pcdh10 T A 3: 45,333,977 (GRCm39) V97D probably damaging Het
Pde3a T C 6: 141,433,658 (GRCm39) F847L probably damaging Het
Ppp1r13b C A 12: 111,799,612 (GRCm39) V722F possibly damaging Het
Rhoh A G 5: 66,049,862 (GRCm39) D44G possibly damaging Het
Riox1 C T 12: 83,998,147 (GRCm39) R228C probably damaging Het
Rtl1 C T 12: 109,561,113 (GRCm39) R242Q unknown Het
Saxo2 T C 7: 82,292,969 (GRCm39) T43A probably damaging Het
Sec16a G A 2: 26,320,498 (GRCm39) R1361C probably damaging Het
Sema3f C T 9: 107,568,648 (GRCm39) probably null Het
Snap25 T C 2: 136,611,690 (GRCm39) M64T probably benign Het
Spef2 T C 15: 9,597,426 (GRCm39) N1410S probably benign Het
Sstr2 T C 11: 113,515,774 (GRCm39) I231T probably damaging Het
Stam A T 2: 14,120,829 (GRCm39) H78L probably damaging Het
Suox C T 10: 128,507,702 (GRCm39) V109I possibly damaging Het
Syne1 T C 10: 5,067,041 (GRCm39) R7075G probably benign Het
Tenm3 C T 8: 48,689,474 (GRCm39) D2038N probably damaging Het
Tln1 C T 4: 43,550,217 (GRCm39) R482Q probably benign Het
Tnrc6a T C 7: 122,781,650 (GRCm39) V1440A probably benign Het
Togaram2 A G 17: 72,016,608 (GRCm39) D655G probably damaging Het
Trgv2 A T 13: 19,520,896 (GRCm39) I66K probably damaging Het
Vmn1r113 A T 7: 20,521,876 (GRCm39) I223F probably damaging Het
Vmn2r62 T A 7: 42,437,866 (GRCm39) H206L probably benign Het
Zan T A 5: 137,460,075 (GRCm39) Y1272F unknown Het
Zfp39 T C 11: 58,782,306 (GRCm39) H152R probably benign Het
Zfp41 T A 15: 75,490,310 (GRCm39) Y87* probably null Het
Zfp933 A T 4: 147,910,654 (GRCm39) L314H probably damaging Het
Other mutations in Necab1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Necab1 APN 4 15,052,656 (GRCm39) missense probably damaging 1.00
IGL01314:Necab1 APN 4 15,005,079 (GRCm39) missense probably damaging 0.96
IGL01751:Necab1 APN 4 14,978,171 (GRCm39) missense probably damaging 1.00
IGL02098:Necab1 APN 4 14,955,892 (GRCm39) utr 3 prime probably benign
IGL02381:Necab1 APN 4 15,148,812 (GRCm39) splice site probably null
IGL03247:Necab1 APN 4 14,960,046 (GRCm39) missense probably benign
R0095:Necab1 UTSW 4 14,960,027 (GRCm39) missense possibly damaging 0.95
R0095:Necab1 UTSW 4 14,960,027 (GRCm39) missense possibly damaging 0.95
R0321:Necab1 UTSW 4 14,960,083 (GRCm39) missense probably damaging 0.99
R0698:Necab1 UTSW 4 15,005,041 (GRCm39) missense probably benign 0.26
R1125:Necab1 UTSW 4 15,111,257 (GRCm39) missense probably damaging 1.00
R1251:Necab1 UTSW 4 15,111,192 (GRCm39) critical splice donor site probably null
R1400:Necab1 UTSW 4 14,975,185 (GRCm39) missense possibly damaging 0.71
R1505:Necab1 UTSW 4 14,960,047 (GRCm39) missense probably benign 0.26
R1771:Necab1 UTSW 4 15,111,267 (GRCm39) missense probably damaging 1.00
R1776:Necab1 UTSW 4 15,111,267 (GRCm39) missense probably damaging 1.00
R2080:Necab1 UTSW 4 15,140,219 (GRCm39) splice site probably benign
R4705:Necab1 UTSW 4 15,052,628 (GRCm39) missense probably damaging 1.00
R4780:Necab1 UTSW 4 14,989,248 (GRCm39) missense probably benign 0.18
R4795:Necab1 UTSW 4 15,111,208 (GRCm39) missense possibly damaging 0.84
R4972:Necab1 UTSW 4 14,978,216 (GRCm39) missense probably damaging 1.00
R5009:Necab1 UTSW 4 14,947,503 (GRCm39) unclassified probably benign
R6102:Necab1 UTSW 4 14,989,211 (GRCm39) missense probably benign 0.05
R7458:Necab1 UTSW 4 15,111,244 (GRCm39) missense possibly damaging 0.90
R8130:Necab1 UTSW 4 15,005,073 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGACCAACTAACTACTAGCACTAGG -3'
(R):5'- GGCATTTAGTTCAAACCACTCC -3'

Sequencing Primer
(F):5'- GCACTAGGTTTAATGTAGCTACAAAC -3'
(R):5'- CACTCCAAATCTTGACATCAGGTTGG -3'
Posted On 2018-11-28