Incidental Mutation 'R0698:Necab1'
ID 62900
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 038882-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R0698 (G1)
Quality Score 134
Status Not validated
Chromosome 4
Chromosomal Location 14952245-15149794 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15005041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 141 (N141S)
Ref Sequence ENSEMBL: ENSMUSP00000103908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041606] [ENSMUST00000108273]
AlphaFold Q8BG18
Predicted Effect probably benign
Transcript: ENSMUST00000041606
AA Change: N141S

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000038165
Gene: ENSMUSG00000040536
AA Change: N141S

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 benign
Transcript: ENSMUST00000108273
AA Change: N141S

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103908
Gene: ENSMUSG00000040536
AA Change: N141S

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: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy5 C T 16: 35,110,452 (GRCm39) T873M possibly damaging Het
Ap4e1 G A 2: 126,905,283 (GRCm39) E985K probably benign Het
Arhgap18 T C 10: 26,788,625 (GRCm39) I579T probably damaging Het
Arhgef11 G T 3: 87,640,766 (GRCm39) A1308S probably benign Het
Arhgef5 A G 6: 43,250,275 (GRCm39) E342G probably damaging Het
Atm T C 9: 53,426,539 (GRCm39) E573G probably damaging Het
Baz1b T C 5: 135,227,075 (GRCm39) V92A probably damaging Het
Cmya5 A G 13: 93,232,065 (GRCm39) S1008P probably damaging Het
Col6a1 A G 10: 76,552,114 (GRCm39) V459A unknown Het
Cpne4 T C 9: 104,802,994 (GRCm39) S213P probably damaging Het
Dock10 T A 1: 80,507,895 (GRCm39) Q1672L probably damaging Het
Grm8 C T 6: 27,363,913 (GRCm39) C534Y probably damaging Het
Ints7 A G 1: 191,326,576 (GRCm39) M183V probably damaging Het
Invs T G 4: 48,396,364 (GRCm39) S346A probably benign Het
Krtap9-3 C A 11: 99,488,663 (GRCm39) C73F probably damaging Het
Lrrtm4 T C 6: 79,999,911 (GRCm39) L441P probably damaging Het
Map4 C T 9: 109,897,856 (GRCm39) R81* probably null Het
Med1 A G 11: 98,046,515 (GRCm39) probably benign Het
Or1d2 A T 11: 74,255,968 (GRCm39) I158F probably benign Het
Pcdhb2 A T 18: 37,430,419 (GRCm39) E797D probably benign Het
Pclo T C 5: 14,762,530 (GRCm39) Y3668H unknown Het
Peg10 T A 6: 4,756,835 (GRCm39) probably benign Het
Psd2 A G 18: 36,145,764 (GRCm39) I723V probably benign Het
Ptprn2 C T 12: 116,685,750 (GRCm39) R70* probably null Het
R3hdm1 A G 1: 128,109,476 (GRCm39) Y309C probably damaging Het
Rab13 C T 3: 90,132,043 (GRCm39) T69M probably damaging Het
Rpl32 T C 6: 115,782,551 (GRCm39) N126S probably benign Het
Sis C A 3: 72,817,831 (GRCm39) A1461S probably damaging Het
Slc2a13 T C 15: 91,205,870 (GRCm39) D439G probably benign Het
Spta1 T C 1: 174,008,670 (GRCm39) L258P probably damaging Het
Synj1 T C 16: 90,757,503 (GRCm39) T882A probably benign Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Tada3 A T 6: 113,343,968 (GRCm39) L227Q probably damaging Het
Tet2 A T 3: 133,173,145 (GRCm39) S1706T probably benign Het
Ttc6 G A 12: 57,720,002 (GRCm39) V858I probably benign Het
Tut4 T A 4: 108,412,730 (GRCm39) M1477K probably benign Het
Vps13c C A 9: 67,797,005 (GRCm39) A464E probably benign Het
Zbtb17 T C 4: 141,193,407 (GRCm39) probably null Het
Zcwpw1 G A 5: 137,815,783 (GRCm39) E429K probably benign 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
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
R6968:Necab1 UTSW 4 14,957,852 (GRCm39) missense probably damaging 1.00
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'- ACCGATTTTGAAGACCAGAACATGGG -3'
(R):5'- ATTCGGCCTCTAGCAGGTGGAAAG -3'

Sequencing Primer
(F):5'- GGGATTAAATTCCACTGTGCC -3'
(R):5'- CTCTAGCAGGTGGAAAGTCCTTC -3'
Posted On 2013-07-30