Incidental Mutation 'IGL02208:Efcab11'
ID 284609
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Efcab11
Ensembl Gene ENSMUSG00000021176
Gene Name EF-hand calcium binding domain 11
Synonyms 2610110A13Rik, 2610021K21Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02208
Quality Score
Status
Chromosome 12
Chromosomal Location 99683790-99849701 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 99820861 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046485] [ENSMUST00000220875] [ENSMUST00000223114]
AlphaFold Q9D0E5
Predicted Effect probably benign
Transcript: ENSMUST00000046485
SMART Domains Protein: ENSMUSP00000044808
Gene: ENSMUSG00000021176

DomainStartEndE-ValueType
EFh 22 50 4.67e-2 SMART
EFh 95 123 5.38e0 SMART
EFh 131 159 6.16e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000220875
Predicted Effect probably benign
Transcript: ENSMUST00000221929
Predicted Effect probably benign
Transcript: ENSMUST00000223114
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223298
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,950,772 (GRCm39) Y898H probably damaging Het
Abr T C 11: 76,346,471 (GRCm39) T484A probably damaging Het
Ahsg G A 16: 22,711,060 (GRCm39) V66I possibly damaging Het
Arhgef5 T G 6: 43,252,064 (GRCm39) D938E probably benign Het
Asap1 T A 15: 63,993,882 (GRCm39) E731V probably damaging Het
Cdca2 C T 14: 67,950,589 (GRCm39) R114Q probably damaging Het
Dock5 A G 14: 68,065,899 (GRCm39) I368T probably benign Het
Dse T A 10: 34,028,433 (GRCm39) M886L probably benign Het
Eri2 G A 7: 119,385,158 (GRCm39) P448S probably benign Het
Iffo1 A G 6: 125,122,329 (GRCm39) D37G possibly damaging Het
Lrrc39 A T 3: 116,371,923 (GRCm39) Q230L probably damaging Het
Macrod2 C A 2: 142,216,196 (GRCm39) S443Y possibly damaging Het
Map4 T A 9: 109,807,938 (GRCm39) M1K probably null Het
Misfa T C 7: 46,633,572 (GRCm39) probably benign Het
Myh4 G A 11: 67,142,760 (GRCm39) A974T possibly damaging Het
Npm3 T C 19: 45,737,299 (GRCm39) T72A probably benign Het
Or14j1 T C 17: 38,146,415 (GRCm39) F175S probably damaging Het
P3h4 T C 11: 100,304,901 (GRCm39) N162S probably damaging Het
Pcnx2 G T 8: 126,478,894 (GRCm39) T2118N probably benign Het
Pla2r1 G T 2: 60,258,932 (GRCm39) P1152Q possibly damaging Het
Pole2 C T 12: 69,269,936 (GRCm39) E63K possibly damaging Het
Polr3e T A 7: 120,531,363 (GRCm39) F151I probably damaging Het
Prdm2 T C 4: 142,862,313 (GRCm39) T326A probably benign Het
Prdm8 G T 5: 98,331,324 (GRCm39) A59S possibly damaging Het
Reps1 A G 10: 17,994,770 (GRCm39) N538S probably damaging Het
Scube1 T C 15: 83,587,741 (GRCm39) D76G probably damaging Het
Senp6 T C 9: 80,021,225 (GRCm39) F302L probably damaging Het
Skic2 A T 17: 35,060,651 (GRCm39) I822N probably damaging Het
Slc17a7 T C 7: 44,820,367 (GRCm39) I299T probably damaging Het
Slc25a26 T A 6: 94,484,520 (GRCm39) V20E probably damaging Het
Spem2 T C 11: 69,708,089 (GRCm39) probably null Het
Stat5b A C 11: 100,695,739 (GRCm39) F81C probably damaging Het
Taf6 A T 5: 138,179,169 (GRCm39) V423E probably damaging Het
Tcaf2 T A 6: 42,606,020 (GRCm39) Y551F probably damaging Het
Tgm6 A T 2: 129,977,790 (GRCm39) D43V probably benign Het
Tubb3 G T 8: 124,147,603 (GRCm39) V179L probably damaging Het
Ubr1 G A 2: 120,776,830 (GRCm39) H304Y probably benign Het
Vmn2r56 T G 7: 12,449,408 (GRCm39) M277L probably benign Het
Wdr72 G A 9: 74,064,581 (GRCm39) V538M probably damaging Het
Other mutations in Efcab11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02395:Efcab11 APN 12 99,820,868 (GRCm39) critical splice donor site probably null
taxi UTSW 12 99,849,674 (GRCm39) utr 5 prime probably benign
R0505:Efcab11 UTSW 12 99,685,294 (GRCm39) missense probably benign 0.13
R4915:Efcab11 UTSW 12 99,685,321 (GRCm39) missense probably damaging 1.00
R4917:Efcab11 UTSW 12 99,685,321 (GRCm39) missense probably damaging 1.00
R4918:Efcab11 UTSW 12 99,685,321 (GRCm39) missense probably damaging 1.00
R5418:Efcab11 UTSW 12 99,821,877 (GRCm39) missense possibly damaging 0.81
R6896:Efcab11 UTSW 12 99,849,674 (GRCm39) utr 5 prime probably benign
R7166:Efcab11 UTSW 12 99,849,614 (GRCm39) missense
R7492:Efcab11 UTSW 12 99,844,660 (GRCm39) missense possibly damaging 0.68
Posted On 2015-04-16