Incidental Mutation 'R7706:Efcab8'
ID 594264
Institutional Source Beutler Lab
Gene Symbol Efcab8
Ensembl Gene ENSMUSG00000044083
Gene Name EF-hand calcium binding domain 8
Synonyms EG329541
MMRRC Submission 045767-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R7706 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 153621851-153686671 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 153623695 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 60 (M60K)
Ref Sequence ENSEMBL: ENSMUSP00000135661 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000126656] [ENSMUST00000144827] [ENSMUST00000230058]
AlphaFold Q8C9R9
Predicted Effect
Predicted Effect probably damaging
Transcript: ENSMUST00000144827
AA Change: M60K

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135811
Gene: ENSMUSG00000044083
AA Change: M60K

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 probably benign
Transcript: ENSMUST00000230058
AA Change: M60K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
Meta Mutation Damage Score 0.0993 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (52/53)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C23Rik G A 17: 46,044,583 (GRCm39) T46I unknown Het
Arhgef1 G A 7: 24,616,306 (GRCm39) D317N probably damaging Het
Atxn7l2 T C 3: 108,114,719 (GRCm39) D109G probably damaging Het
B4galnt3 C A 6: 120,195,913 (GRCm39) V305L probably benign Het
C9 T A 15: 6,488,402 (GRCm39) N85K probably benign Het
Cacna1g T C 11: 94,305,867 (GRCm39) I1941V probably benign Het
Capn15 A G 17: 26,183,125 (GRCm39) V518A probably benign Het
Chst10 A T 1: 38,905,106 (GRCm39) Y200N probably damaging Het
Ciao3 T C 17: 26,001,226 (GRCm39) *493Q probably null Het
Cir1 A G 2: 73,142,823 (GRCm39) S4P probably damaging Het
Cish G A 9: 107,177,840 (GRCm39) R172Q probably benign Het
Cnot10 A T 9: 114,422,506 (GRCm39) N693K probably damaging Het
Ddx6 A G 9: 44,538,939 (GRCm39) D249G probably damaging Het
Dennd6b T C 15: 89,069,447 (GRCm39) D528G probably benign Het
Dmtf1 T A 5: 9,174,489 (GRCm39) T484S possibly damaging Het
Dnaaf5 T C 5: 139,138,596 (GRCm39) V259A probably damaging Het
Dzip1l A T 9: 99,519,589 (GRCm39) S39C probably damaging Het
Eml2 T A 7: 18,920,035 (GRCm39) V113D possibly damaging Het
Fnip1 A T 11: 54,406,325 (GRCm39) I1141F probably benign Het
Gm7298 T A 6: 121,712,570 (GRCm39) S127R probably damaging Het
Hcn2 G A 10: 79,570,017 (GRCm39) R622Q possibly damaging Het
Ift172 C T 5: 31,423,723 (GRCm39) W746* probably null Het
Irs1 A G 1: 82,265,412 (GRCm39) Y935H probably damaging Het
Kctd17 CAGCTGGAGGAGC CAGC 15: 78,321,113 (GRCm39) probably benign Het
Klhl20 T C 1: 160,936,827 (GRCm39) I183V probably benign Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lalba T C 15: 98,379,474 (GRCm39) D103G probably damaging Het
Lpin3 T C 2: 160,747,210 (GRCm39) L822P probably damaging Het
Lrrc38 G A 4: 143,076,845 (GRCm39) C36Y probably damaging Het
Ly6e T C 15: 74,830,183 (GRCm39) S46P possibly damaging Het
Nav2 T C 7: 49,244,067 (GRCm39) I2098T probably benign Het
Nipbl T C 15: 8,381,010 (GRCm39) E594G probably benign Het
Or52k2 T A 7: 102,253,853 (GRCm39) H97Q probably benign Het
Parn T C 16: 13,425,117 (GRCm39) D432G probably damaging Het
Pcdh20 A G 14: 88,704,793 (GRCm39) S836P probably damaging Het
Pcmtd2 C T 2: 181,496,868 (GRCm39) R282C probably damaging Het
Ppp2r3c A G 12: 55,328,490 (GRCm39) I425T probably benign Het
Samm50 T A 15: 84,085,081 (GRCm39) probably null Het
Sars1 C T 3: 108,338,780 (GRCm39) probably null Het
Senp8 A G 9: 59,645,121 (GRCm39) Y12H possibly damaging Het
Slc13a4 T C 6: 35,247,290 (GRCm39) I577V possibly damaging Het
Srr T G 11: 74,803,961 (GRCm39) probably null Het
Steap2 T A 5: 5,732,967 (GRCm39) N19I possibly damaging Het
Sucla2 A G 14: 73,806,433 (GRCm39) Y168C probably damaging Het
Tha1 T C 11: 117,760,281 (GRCm39) Q275R probably damaging Het
Trim56 T C 5: 137,143,510 (GRCm39) N2S probably benign Het
Tubgcp6 T A 15: 88,988,426 (GRCm39) H849L probably benign Het
Uevld A G 7: 46,597,775 (GRCm39) I72T possibly damaging Het
Ybx1 A G 4: 119,136,164 (GRCm39) *323Q probably null Het
Zfp354b C T 11: 50,819,390 (GRCm39) probably null Het
Zfp36l2 A T 17: 84,494,346 (GRCm39) L97Q probably benign Het
Zfp729a T A 13: 67,771,612 (GRCm39) R78S possibly damaging Het
Other mutations in Efcab8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1709:Efcab8 UTSW 2 153,656,290 (GRCm39) splice site probably null
R2324:Efcab8 UTSW 2 153,625,729 (GRCm39) splice site probably null
R4002:Efcab8 UTSW 2 153,623,726 (GRCm39) missense probably benign 0.20
R5208:Efcab8 UTSW 2 153,644,343 (GRCm39) nonsense probably null
R5393:Efcab8 UTSW 2 153,622,903 (GRCm39) missense unknown
R5411:Efcab8 UTSW 2 153,625,676 (GRCm39) missense probably damaging 0.96
R5766:Efcab8 UTSW 2 153,622,912 (GRCm39) missense possibly damaging 0.90
R6255:Efcab8 UTSW 2 153,652,188 (GRCm39) missense possibly damaging 0.87
R6266:Efcab8 UTSW 2 153,625,688 (GRCm39) missense probably damaging 1.00
R6714:Efcab8 UTSW 2 153,631,130 (GRCm39) missense probably damaging 0.99
R6740:Efcab8 UTSW 2 153,646,814 (GRCm39) missense probably damaging 1.00
R7719:Efcab8 UTSW 2 153,629,665 (GRCm39) missense
R7765:Efcab8 UTSW 2 153,685,110 (GRCm39) missense
R7822:Efcab8 UTSW 2 153,652,832 (GRCm39) missense unknown
R7994:Efcab8 UTSW 2 153,625,724 (GRCm39) missense
R8207:Efcab8 UTSW 2 153,631,145 (GRCm39) missense probably damaging 1.00
R8874:Efcab8 UTSW 2 153,640,569 (GRCm39) missense
R8980:Efcab8 UTSW 2 153,646,861 (GRCm39) missense unknown
R9036:Efcab8 UTSW 2 153,622,888 (GRCm39) missense
R9133:Efcab8 UTSW 2 153,646,861 (GRCm39) missense unknown
R9207:Efcab8 UTSW 2 153,656,339 (GRCm39) missense unknown
R9266:Efcab8 UTSW 2 153,646,861 (GRCm39) missense unknown
R9267:Efcab8 UTSW 2 153,646,861 (GRCm39) missense unknown
R9269:Efcab8 UTSW 2 153,646,861 (GRCm39) missense unknown
R9447:Efcab8 UTSW 2 153,646,861 (GRCm39) missense unknown
R9448:Efcab8 UTSW 2 153,646,861 (GRCm39) missense unknown
R9451:Efcab8 UTSW 2 153,646,861 (GRCm39) missense unknown
R9766:Efcab8 UTSW 2 153,656,362 (GRCm39) missense unknown
Z1177:Efcab8 UTSW 2 153,640,600 (GRCm39) missense probably null
Predicted Primers PCR Primer
(F):5'- AATCTTCATGGCTTCAGTGGG -3'
(R):5'- AAGTTTGCAAGCCTGGTGC -3'

Sequencing Primer
(F):5'- CAGGAAGGCTCCACTGTAAACTTATG -3'
(R):5'- TGCAGAAGCTAGCAGACCTATGC -3'
Posted On 2019-11-12