Incidental Mutation 'R4197:Efcab15'
ID 377734
Institutional Source Beutler Lab
Gene Symbol Efcab15
Ensembl Gene ENSMUSG00000020940
Gene Name EF-hand calcium binding domain 15
Synonyms 1700023F06Rik
MMRRC Submission 041028-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R4197 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 103089769-103099374 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 103091966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 94 (S94L)
Ref Sequence ENSEMBL: ENSMUSP00000139837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021323] [ENSMUST00000042286] [ENSMUST00000107026] [ENSMUST00000107027] [ENSMUST00000129726] [ENSMUST00000172850] [ENSMUST00000174567] [ENSMUST00000218163]
AlphaFold A2AB62
Predicted Effect noncoding transcript
Transcript: ENSMUST00000021322
Predicted Effect probably benign
Transcript: ENSMUST00000021323
AA Change: S94L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000021323
Gene: ENSMUSG00000020940
AA Change: S94L

DomainStartEndE-ValueType
EFh 109 137 7.23e1 SMART
EFh 145 173 6.68e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000042286
SMART Domains Protein: ENSMUSP00000046296
Gene: ENSMUSG00000055805

DomainStartEndE-ValueType
Drf_GBD 27 280 1.04e-87 SMART
Drf_FH3 283 632 2.29e-75 SMART
FH2 627 1057 4.35e-142 SMART
low complexity region 1074 1087 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107026
AA Change: S25L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102641
Gene: ENSMUSG00000020940
AA Change: S25L

DomainStartEndE-ValueType
EFh 40 68 7.23e1 SMART
EFh 76 104 6.68e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107027
SMART Domains Protein: ENSMUSP00000102642
Gene: ENSMUSG00000055805

DomainStartEndE-ValueType
Drf_GBD 27 280 1.04e-87 SMART
Drf_FH3 283 632 2.29e-75 SMART
FH2 627 1057 4.35e-142 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129726
SMART Domains Protein: ENSMUSP00000133299
Gene: ENSMUSG00000055805

DomainStartEndE-ValueType
Pfam:FH2 1 50 8.2e-10 PFAM
low complexity region 124 139 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140559
Predicted Effect probably benign
Transcript: ENSMUST00000172850
AA Change: S94L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000139837
Gene: ENSMUSG00000020940
AA Change: S94L

DomainStartEndE-ValueType
EFh 109 137 3.5e-1 SMART
EFh 145 173 3.2e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174567
AA Change: S129L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134292
Gene: ENSMUSG00000020940
AA Change: S129L

DomainStartEndE-ValueType
SCOP:d1mr8a_ 153 209 5e-8 SMART
Blast:EFh 159 187 4e-12 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000218163
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccno G A 13: 113,125,603 (GRCm39) C189Y probably damaging Het
Cd36 T A 5: 18,018,086 (GRCm39) D209V probably damaging Het
Depdc5 T A 5: 33,148,547 (GRCm39) L1561Q possibly damaging Het
Dhx34 G T 7: 15,937,651 (GRCm39) H777N probably damaging Het
Dlat T C 9: 50,547,826 (GRCm39) T610A probably damaging Het
Fip1l1 T A 5: 74,696,397 (GRCm39) D19E probably damaging Het
Gm5699 T A 1: 31,037,726 (GRCm39) noncoding transcript Het
Grin2a A C 16: 9,579,831 (GRCm39) F144C probably damaging Het
Klhl18 A T 9: 110,259,012 (GRCm39) probably null Het
Klhl31 T C 9: 77,558,091 (GRCm39) V269A probably damaging Het
Lypd10 A G 7: 24,413,119 (GRCm39) D146G probably benign Het
Mmel1 T C 4: 154,977,761 (GRCm39) I594T probably damaging Het
Myo9a T A 9: 59,802,149 (GRCm39) S1913T probably benign Het
Or6a2 T C 7: 106,600,245 (GRCm39) D274G probably damaging Het
Pcdhb14 A G 18: 37,581,358 (GRCm39) K155E probably benign Het
Pdcd10 A T 3: 75,424,899 (GRCm39) N189K possibly damaging Het
Pde3b T G 7: 114,130,107 (GRCm39) probably benign Het
Plxnb2 T C 15: 89,041,221 (GRCm39) N1775S probably damaging Het
Polr2a T C 11: 69,626,162 (GRCm39) S1625G unknown Het
Ptpn21 G T 12: 98,646,397 (GRCm39) H1020Q probably damaging Het
Rad23b C T 4: 55,385,455 (GRCm39) P331S probably damaging Het
Scel A T 14: 103,836,836 (GRCm39) N475Y probably damaging Het
Sema5a A G 15: 32,619,064 (GRCm39) T531A probably benign Het
Sf3b3 A T 8: 111,548,197 (GRCm39) L679Q probably damaging Het
Sipa1l3 A T 7: 29,100,238 (GRCm39) D10E possibly damaging Het
Slc44a4 G A 17: 35,137,228 (GRCm39) V84I probably benign Het
Slco5a1 G T 1: 12,964,740 (GRCm39) S512R probably damaging Het
Sv2c A T 13: 96,114,636 (GRCm39) F517I probably damaging Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Tnfsf11 A T 14: 78,521,752 (GRCm39) D152E probably benign Het
Trav13n-4 C T 14: 53,601,378 (GRCm39) T49I probably benign Het
Ttn T C 2: 76,716,422 (GRCm39) probably benign Het
Usp34 T C 11: 23,394,189 (GRCm39) S2261P probably damaging Het
Vmn2r87 G A 10: 130,315,779 (GRCm39) P96S possibly damaging Het
Xrcc6 A G 15: 81,913,425 (GRCm39) M353V probably benign Het
Other mutations in Efcab15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01415:Efcab15 APN 11 103,091,754 (GRCm39) missense probably damaging 1.00
IGL01797:Efcab15 APN 11 103,089,794 (GRCm39) missense probably damaging 1.00
IGL02507:Efcab15 APN 11 103,090,275 (GRCm39) missense probably damaging 0.99
catapult UTSW 11 103,098,947 (GRCm39) splice site probably null
trebuchet UTSW 11 103,098,944 (GRCm39) splice site probably null
PIT4514001:Efcab15 UTSW 11 103,091,960 (GRCm39) missense probably benign 0.00
R1715:Efcab15 UTSW 11 103,090,650 (GRCm39) critical splice acceptor site probably null
R5195:Efcab15 UTSW 11 103,089,794 (GRCm39) missense probably damaging 1.00
R5886:Efcab15 UTSW 11 103,098,947 (GRCm39) splice site probably null
R7366:Efcab15 UTSW 11 103,098,944 (GRCm39) splice site probably null
R7602:Efcab15 UTSW 11 103,091,004 (GRCm39) missense probably benign
R9100:Efcab15 UTSW 11 103,090,893 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- CTGCAAGGTGAACACTGTGTG -3'
(R):5'- CTAAAGAGGAGGCCTTACTGAG -3'

Sequencing Primer
(F):5'- CTGTGTGTTTAAAGACTTAGACTGGC -3'
(R):5'- GAGATCTCAAGAATCCTTCTGAAGC -3'
Posted On 2016-03-31