Incidental Mutation 'R1251:Necab1'
ID 151746
Institutional Source Beutler Lab
Gene Symbol Necab1
Ensembl Gene ENSMUSG00000040536
Gene Name N-terminal EF-hand calcium binding protein 1
Synonyms 1700003H21Rik, Efcbp1, NECAB1, STIP-1
MMRRC Submission 039318-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R1251 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 14952245-15149794 bp(-) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 15111192 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041606] [ENSMUST00000108273]
AlphaFold Q8BG18
Predicted Effect probably null
Transcript: ENSMUST00000041606
SMART Domains Protein: ENSMUSP00000038165
Gene: ENSMUSG00000040536

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 null
Transcript: ENSMUST00000108273
SMART Domains Protein: ENSMUSP00000103908
Gene: ENSMUSG00000040536

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141105
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 123,962,052 (GRCm38) G495D probably damaging Het
Acap2 A T 16: 31,108,171 (GRCm38) Y509N probably damaging Het
Adcy9 T A 16: 4,311,531 (GRCm38) E497V probably damaging Het
Bcat2 T G 7: 45,575,986 (GRCm38) L56R probably damaging Het
Ccdc146 T C 5: 21,293,372 (GRCm38) M952V probably benign Het
Ccdc39 T C 3: 33,826,480 (GRCm38) K446R probably damaging Het
Cfap46 C T 7: 139,601,265 (GRCm38) V2607I probably benign Het
Clec18a T C 8: 111,081,638 (GRCm38) I54V possibly damaging Het
Coil A G 11: 88,982,299 (GRCm38) E455G possibly damaging Het
Copg1 A T 6: 87,890,007 (GRCm38) K75* probably null Het
Cyp2j12 G A 4: 96,115,666 (GRCm38) Q238* probably null Het
D17Wsu92e C T 17: 27,786,070 (GRCm38) probably null Het
Eif3i T C 4: 129,593,385 (GRCm38) E229G probably damaging Het
Exoc2 T A 13: 30,886,276 (GRCm38) N411Y probably benign Het
Eya2 T A 2: 165,754,484 (GRCm38) M305K probably damaging Het
Faim C T 9: 98,992,634 (GRCm38) T78M probably damaging Het
Fgg T A 3: 83,012,980 (GRCm38) D355E probably benign Het
Foxn1 A G 11: 78,358,785 (GRCm38) L638P probably damaging Het
Grid2ip A T 5: 143,386,015 (GRCm38) E664D possibly damaging Het
Il1rn A G 2: 24,345,570 (GRCm38) R21G probably damaging Het
Inpp4b G A 8: 81,890,753 (GRCm38) G220R probably benign Het
Irx6 A G 8: 92,678,253 (GRCm38) S250G possibly damaging Het
Lyst T C 13: 13,634,483 (GRCm38) I246T probably benign Het
Mcm3 G A 1: 20,812,672 (GRCm38) Q353* probably null Het
Mfhas1 A G 8: 35,591,053 (GRCm38) Y894C probably damaging Het
Mfsd13a T C 19: 46,372,053 (GRCm38) L348P probably damaging Het
Nectin3 A T 16: 46,463,842 (GRCm38) S160T possibly damaging Het
Npc2 A G 12: 84,760,884 (GRCm38) S67P probably damaging Het
Olfr1036 G A 2: 86,074,820 (GRCm38) V27M probably benign Het
Olfr513 T G 7: 108,754,907 (GRCm38) F17C probably damaging Het
Pcnx3 A G 19: 5,677,182 (GRCm38) F1108L probably benign Het
Phf21a G A 2: 92,359,199 (GRCm38) S601N probably benign Het
Pold1 C T 7: 44,535,051 (GRCm38) V842I probably benign Het
Rabgap1 A G 2: 37,543,234 (GRCm38) probably null Het
Setd1a T A 7: 127,797,424 (GRCm38) probably benign Het
Sgo2a A T 1: 57,999,962 (GRCm38) probably null Het
Sult2a8 T A 7: 14,425,425 (GRCm38) K90* probably null Het
Tlr2 T C 3: 83,838,269 (GRCm38) D169G possibly damaging Het
Tmem95 A G 11: 69,876,829 (GRCm38) F153S probably benign Het
Tube1 G T 10: 39,134,208 (GRCm38) G10* probably null Het
Vmn2r10 T C 5: 108,996,024 (GRCm38) M687V probably benign Het
Zc3h8 G A 2: 128,935,369 (GRCm38) P117S probably benign Het
Zeb1 T A 18: 5,705,089 (GRCm38) D18E probably damaging Het
Other mutations in Necab1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Necab1 APN 4 15,052,656 (GRCm38) missense probably damaging 1.00
IGL01314:Necab1 APN 4 15,005,079 (GRCm38) missense probably damaging 0.96
IGL01751:Necab1 APN 4 14,978,171 (GRCm38) missense probably damaging 1.00
IGL02098:Necab1 APN 4 14,955,892 (GRCm38) utr 3 prime probably benign
IGL02381:Necab1 APN 4 15,148,812 (GRCm38) splice site probably null
IGL03247:Necab1 APN 4 14,960,046 (GRCm38) missense probably benign
R0095:Necab1 UTSW 4 14,960,027 (GRCm38) missense possibly damaging 0.95
R0095:Necab1 UTSW 4 14,960,027 (GRCm38) missense possibly damaging 0.95
R0321:Necab1 UTSW 4 14,960,083 (GRCm38) missense probably damaging 0.99
R0698:Necab1 UTSW 4 15,005,041 (GRCm38) missense probably benign 0.26
R1125:Necab1 UTSW 4 15,111,257 (GRCm38) missense probably damaging 1.00
R1400:Necab1 UTSW 4 14,975,185 (GRCm38) missense possibly damaging 0.71
R1505:Necab1 UTSW 4 14,960,047 (GRCm38) missense probably benign 0.26
R1771:Necab1 UTSW 4 15,111,267 (GRCm38) missense probably damaging 1.00
R1776:Necab1 UTSW 4 15,111,267 (GRCm38) missense probably damaging 1.00
R2080:Necab1 UTSW 4 15,140,219 (GRCm38) splice site probably benign
R4705:Necab1 UTSW 4 15,052,628 (GRCm38) missense probably damaging 1.00
R4780:Necab1 UTSW 4 14,989,248 (GRCm38) missense probably benign 0.18
R4795:Necab1 UTSW 4 15,111,208 (GRCm38) missense possibly damaging 0.84
R4972:Necab1 UTSW 4 14,978,216 (GRCm38) missense probably damaging 1.00
R5009:Necab1 UTSW 4 14,947,503 (GRCm38) unclassified probably benign
R6102:Necab1 UTSW 4 14,989,211 (GRCm38) missense probably benign 0.05
R6968:Necab1 UTSW 4 14,957,852 (GRCm38) missense probably damaging 1.00
R7458:Necab1 UTSW 4 15,111,244 (GRCm38) missense possibly damaging 0.90
R8130:Necab1 UTSW 4 15,005,073 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCCTAAACAAGCAGTGCATCTCTG -3'
(R):5'- AGGCCATACACCAGTGCATGTTTC -3'

Sequencing Primer
(F):5'- GGTATCCACATGCCAAGTAAATG -3'
(R):5'- GTGTGTCATGCACAGCTAAC -3'
Posted On 2014-01-29