Incidental Mutation 'R5766:Efcab8'
ID446262
Institutional Source Beutler Lab
Gene Symbol Efcab8
Ensembl Gene ENSMUSG00000044083
Gene NameEF-hand calcium binding domain 8
SynonymsEG329541
MMRRC Submission 044424-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock #R5766 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location153779931-153844751 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 153780992 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 27 (D27G)
Ref Sequence ENSEMBL: ENSMUSP00000155494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000126656] [ENSMUST00000144827] [ENSMUST00000230058]
Predicted Effect possibly damaging
Transcript: ENSMUST00000126656
AA Change: D27G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000144827
AA Change: D27G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000135811
Gene: ENSMUSG00000044083
AA Change: D27G

DomainStartEndE-ValueType
low complexity region 36 52 N/A INTRINSIC
SCOP:d1mr8a_ 104 184 5e-7 SMART
Blast:EFh 155 178 2e-7 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000230058
AA Change: D27G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik G A 7: 28,137,329 W224* probably null Het
Aadacl3 A G 4: 144,455,869 V343A probably damaging Het
AI429214 TCCCTGATGAAC TC 8: 36,994,229 probably null Het
Arid2 A G 15: 96,372,205 T1400A probably benign Het
Arrdc1 G A 2: 24,926,405 T184I probably damaging Het
Aspm T C 1: 139,479,002 F1876L probably damaging Het
Calhm1 C T 19: 47,143,703 V158I probably benign Het
Caly T C 7: 140,070,397 K211E probably benign Het
Cenpe T C 3: 135,248,413 L1677P probably damaging Het
Cttnbp2 A G 6: 18,381,033 V1388A possibly damaging Het
Dgkd C T 1: 87,880,449 R80* probably null Het
Dnah3 A T 7: 119,978,222 I2072N probably damaging Het
Dnah8 A G 17: 30,690,261 I1020M probably benign Het
Drc3 T C 11: 60,393,821 V484A probably benign Het
Fat4 G A 3: 38,889,468 G837R probably damaging Het
Fgb A T 3: 83,046,176 C96S probably damaging Het
Flt4 G C 11: 49,626,686 W278C possibly damaging Het
Fmnl2 T C 2: 53,101,454 V327A probably damaging Het
Fras1 A T 5: 96,731,689 Y2455F possibly damaging Het
Gm10549 C A 18: 33,464,305 probably benign Het
Gm13872 T A 2: 102,737,909 I88N probably damaging Het
Hoxa6 A G 6: 52,208,414 S71P probably benign Het
Hunk T A 16: 90,453,739 C148S probably damaging Het
Ighv1-18 A C 12: 114,682,907 S26A probably damaging Het
Impg2 T G 16: 56,259,820 D553E possibly damaging Het
Ints1 A G 5: 139,772,145 I266T probably benign Het
Kpna3 G T 14: 61,403,014 T33K probably benign Het
Lamb1 A G 12: 31,299,931 D622G probably damaging Het
Lamp3 T C 16: 19,701,317 T39A probably damaging Het
Mnt C T 11: 74,843,078 probably benign Het
Msh4 A G 3: 153,867,840 S726P probably damaging Het
Olfr539 T A 7: 140,667,353 V22E probably benign Het
Pah A C 10: 87,567,347 K195Q probably damaging Het
Pdc T A 1: 150,333,500 *245K probably null Het
Pdzd8 A T 19: 59,300,540 H809Q possibly damaging Het
Plekhd1 A T 12: 80,722,366 I467L probably benign Het
Ppp2ca A G 11: 52,113,187 D57G probably damaging Het
Ralgapa1 A T 12: 55,820,766 M1K probably null Het
Rfx2 T A 17: 56,803,587 D133V probably benign Het
Scfd2 A T 5: 74,462,651 L407Q probably damaging Het
Scp2d1 T A 2: 144,824,037 S99T possibly damaging Het
Sec63 A T 10: 42,801,681 N261I probably damaging Het
Slc8a1 T C 17: 81,648,961 Y216C probably damaging Het
Son T A 16: 91,664,987 probably benign Het
Syce1 T C 7: 140,777,981 E285G probably damaging Het
Taar7a G T 10: 23,993,362 S40R probably benign Het
Ube3a A T 7: 59,276,059 D216V possibly damaging Het
Vgll2 A G 10: 52,027,563 D174G probably damaging Het
Vmn2r17 A T 5: 109,427,273 T149S possibly damaging Het
Zbtb39 G T 10: 127,742,688 C377F probably damaging Het
Zfp820 T A 17: 21,820,002 N115I probably damaging Het
Zfp948 T C 17: 21,584,816 S23P probably benign Het
Other mutations in Efcab8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1709:Efcab8 UTSW 2 153814370 splice site probably null
R2324:Efcab8 UTSW 2 153783809 splice site probably null
R4002:Efcab8 UTSW 2 153781806 missense probably benign 0.20
R5208:Efcab8 UTSW 2 153802423 nonsense probably null
R5393:Efcab8 UTSW 2 153780983 missense unknown
R5411:Efcab8 UTSW 2 153783756 missense probably damaging 0.96
R6255:Efcab8 UTSW 2 153810268 missense possibly damaging 0.87
R6266:Efcab8 UTSW 2 153783768 missense probably damaging 1.00
R6714:Efcab8 UTSW 2 153789210 missense probably damaging 0.99
R6740:Efcab8 UTSW 2 153804894 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTCCCTTTCAAGGCCAATAC -3'
(R):5'- ATGTCATACCCACGGGACTG -3'

Sequencing Primer
(F):5'- GGTCCCTTTCAAGGCCAATACAATTC -3'
(R):5'- TAAGCCGTGTGGACCCTG -3'
Posted On2016-11-21