Incidental Mutation 'R5886:Efcab15'
ID 456108
Institutional Source Beutler Lab
Gene Symbol Efcab15
Ensembl Gene ENSMUSG00000020940
Gene Name EF-hand calcium binding domain 15
Synonyms 1700023F06Rik
MMRRC Submission 044088-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R5886 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 103089769-103099374 bp(-) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) A to G at 103098947 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021323] [ENSMUST00000103076] [ENSMUST00000107026] [ENSMUST00000172850] [ENSMUST00000174567]
AlphaFold A2AB62
Predicted Effect probably benign
Transcript: ENSMUST00000021323
SMART Domains Protein: ENSMUSP00000021323
Gene: ENSMUSG00000020940

DomainStartEndE-ValueType
EFh 109 137 7.23e1 SMART
EFh 145 173 6.68e-1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000103076
SMART Domains Protein: ENSMUSP00000099365
Gene: ENSMUSG00000044787

DomainStartEndE-ValueType
low complexity region 25 48 N/A INTRINSIC
Pfam:VAD1-2 106 332 3e-87 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107026
SMART Domains Protein: ENSMUSP00000102641
Gene: ENSMUSG00000020940

DomainStartEndE-ValueType
EFh 40 68 7.23e1 SMART
EFh 76 104 6.68e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140559
Predicted Effect probably benign
Transcript: ENSMUST00000172850
SMART Domains Protein: ENSMUSP00000139837
Gene: ENSMUSG00000020940

DomainStartEndE-ValueType
EFh 109 137 3.5e-1 SMART
EFh 145 173 3.2e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174567
SMART Domains Protein: ENSMUSP00000134292
Gene: ENSMUSG00000020940

DomainStartEndE-ValueType
SCOP:d1mr8a_ 153 209 5e-8 SMART
Blast:EFh 159 187 4e-12 BLAST
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 91.0%
Validation Efficiency 96% (78/81)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 A G 11: 69,775,162 (GRCm39) V367A probably benign Het
Adam26b T C 8: 43,973,310 (GRCm39) E564G possibly damaging Het
Akap1 A G 11: 88,725,486 (GRCm39) probably null Het
Akap5 T A 12: 76,374,619 (GRCm39) V10E possibly damaging Het
Atad2 A T 15: 57,961,910 (GRCm39) L887* probably null Het
Brd10 T C 19: 29,696,677 (GRCm39) I939V probably benign Het
C1qbp A G 11: 70,873,008 (GRCm39) V122A probably benign Het
C1qtnf7 G A 5: 43,772,998 (GRCm39) G92D probably damaging Het
Cacna1a T C 8: 85,249,651 (GRCm39) I219T probably damaging Het
Capn12 A G 7: 28,587,030 (GRCm39) N333S probably benign Het
Ccdc154 C T 17: 25,390,792 (GRCm39) T644I probably benign Het
Cd200r1 T C 16: 44,610,566 (GRCm39) S225P possibly damaging Het
Cntnap5a T C 1: 116,499,402 (GRCm39) probably null Het
Coq4 A T 2: 29,680,626 (GRCm39) probably benign Het
Cubn A T 2: 13,324,834 (GRCm39) probably benign Het
Cyp4f17 A T 17: 32,743,013 (GRCm39) S229C possibly damaging Het
Cysltr2 T C 14: 73,266,931 (GRCm39) K260E probably benign Het
D930007J09Rik C A 13: 32,986,819 (GRCm39) A200E probably benign Het
Dnah8 C T 17: 31,013,691 (GRCm39) P3811S probably damaging Het
Duoxa1 A T 2: 122,134,291 (GRCm39) S276T possibly damaging Het
Efhb T C 17: 53,758,582 (GRCm39) I351M probably benign Het
Fat1 G A 8: 45,480,718 (GRCm39) probably null Het
Fat1 A T 8: 45,486,432 (GRCm39) T3329S probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Gm973 T A 1: 59,597,409 (GRCm39) probably benign Het
Gpr156 T A 16: 37,799,375 (GRCm39) L124Q probably damaging Het
Hars2 T A 18: 36,923,150 (GRCm39) probably benign Het
Hcrt G A 11: 100,652,759 (GRCm39) A85V probably damaging Het
Hivep1 A G 13: 42,310,088 (GRCm39) D776G probably damaging Het
Hmgcr A T 13: 96,796,691 (GRCm39) S200T probably damaging Het
Krt40 C T 11: 99,430,907 (GRCm39) A201T probably benign Het
Lca5 G A 9: 83,281,734 (GRCm39) A350V probably benign Het
Lrig2 T A 3: 104,370,014 (GRCm39) M515L probably benign Het
Mbd5 A G 2: 49,162,464 (GRCm39) D90G probably damaging Het
Mfsd4a C T 1: 131,995,465 (GRCm39) V56I probably damaging Het
Mpi A G 9: 57,455,745 (GRCm39) probably benign Het
Mroh4 G T 15: 74,478,296 (GRCm39) D935E possibly damaging Het
Mtg1 G T 7: 139,729,778 (GRCm39) probably null Het
Nanos1 T A 19: 60,745,268 (GRCm39) C189S probably damaging Het
Naprt A C 15: 75,763,324 (GRCm39) probably null Het
Nubpl T A 12: 52,228,092 (GRCm39) probably null Het
Or10ad1b T C 15: 98,124,672 (GRCm39) T285A possibly damaging Het
Or10d4 G T 9: 39,581,252 (GRCm39) V300L probably benign Het
Or8g23 T A 9: 38,971,678 (GRCm39) T95S probably benign Het
Or9g20 A G 2: 85,630,147 (GRCm39) S156P probably damaging Het
Otud4 T A 8: 80,399,436 (GRCm39) Y717N probably damaging Het
Pakap T A 4: 57,856,295 (GRCm39) D582E probably damaging Het
Pnpla1 T C 17: 29,095,837 (GRCm39) F86S possibly damaging Het
Prlhr C T 19: 60,456,014 (GRCm39) W184* probably null Het
Rtp3 A G 9: 110,816,204 (GRCm39) S116P probably damaging Het
Sema3c T C 5: 17,886,984 (GRCm39) I345T possibly damaging Het
Skor2 T C 18: 76,947,124 (GRCm39) L282P unknown Het
Slc24a4 T C 12: 102,226,674 (GRCm39) V468A probably damaging Het
Slfn8 C T 11: 82,894,160 (GRCm39) M826I probably benign Het
Tacc2 A G 7: 130,330,850 (GRCm39) D378G probably benign Het
Thbs3 C A 3: 89,127,470 (GRCm39) D370E probably damaging Het
Tk1 CC GA 11: 117,707,948 (GRCm39) probably benign Het
Tm7sf2 A G 19: 6,116,572 (GRCm39) probably benign Het
Trappc8 T C 18: 21,007,737 (GRCm39) Y126C probably damaging Het
Trim35 C G 14: 66,541,502 (GRCm39) L209V possibly damaging Het
Trim35 T C 14: 66,541,503 (GRCm39) L209P probably damaging Het
Trip12 C T 1: 84,708,179 (GRCm39) probably benign Het
Trp53bp1 A G 2: 121,035,502 (GRCm39) V1583A probably damaging Het
Tuba5-ps A G 1: 134,447,937 (GRCm39) noncoding transcript Het
Tubgcp6 A T 15: 88,987,450 (GRCm39) N1166K possibly damaging Het
Usp54 C T 14: 20,611,910 (GRCm39) D969N probably benign Het
Vldlr C A 19: 27,221,171 (GRCm39) S612R probably benign Het
Vps13a T C 19: 16,641,926 (GRCm39) T2234A probably benign Het
Vps39 A G 2: 120,152,053 (GRCm39) probably benign Het
Zdhhc3 A T 9: 122,920,146 (GRCm39) C120S probably benign Het
Zfp37 A G 4: 62,109,471 (GRCm39) F531S probably damaging 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
R4197:Efcab15 UTSW 11 103,091,966 (GRCm39) missense probably benign 0.00
R5195:Efcab15 UTSW 11 103,089,794 (GRCm39) missense probably damaging 1.00
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'- AGTGGTTAGGAGGCCTGAATC -3'
(R):5'- GCTCTGATGATATGCAGACAGG -3'

Sequencing Primer
(F):5'- GAGGCCTGAATCCTCTAAAACCTGAG -3'
(R):5'- TCTGATGATATGCAGACAGGACAGAC -3'
Posted On 2017-02-15