Incidental Mutation 'R1238:Efcab6'
ID 152514
Institutional Source Beutler Lab
Gene Symbol Efcab6
Ensembl Gene ENSMUSG00000022441
Gene Name EF-hand calcium binding domain 6
Synonyms 4932408N08Rik, 4931407K02Rik
MMRRC Submission 039305-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1238 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 83750913-83949580 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 83817338 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 745 (E745A)
Ref Sequence ENSEMBL: ENSMUSP00000114909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000156187]
AlphaFold Q6P1E8
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143592
Predicted Effect probably benign
Transcript: ENSMUST00000156187
AA Change: E745A

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000114909
Gene: ENSMUSG00000022441
AA Change: E745A

DomainStartEndE-ValueType
EFh 100 128 9.33e-2 SMART
low complexity region 162 172 N/A INTRINSIC
EFh 201 229 5e-2 SMART
EFh 325 353 1.59e1 SMART
EFh 532 560 1.17e2 SMART
low complexity region 598 607 N/A INTRINSIC
EFh 659 687 8.82e1 SMART
EFh 767 795 3.71e0 SMART
low complexity region 802 816 N/A INTRINSIC
EFh 909 937 2.46e-1 SMART
low complexity region 962 977 N/A INTRINSIC
low complexity region 1015 1027 N/A INTRINSIC
low complexity region 1055 1070 N/A INTRINSIC
EFh 1090 1118 2.09e0 SMART
low complexity region 1131 1136 N/A INTRINSIC
EFh 1197 1225 2e1 SMART
Blast:EFh 1233 1261 1e-9 BLAST
EFh 1342 1370 3.48e-1 SMART
EFh 1453 1481 2.49e0 SMART
Blast:EFh 1489 1516 6e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000163773
SMART Domains Protein: ENSMUSP00000128002
Gene: ENSMUSG00000022441

DomainStartEndE-ValueType
Blast:EFh 44 69 6e-9 BLAST
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.2%
Validation Efficiency 97% (35/36)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which directly binds the oncogene DJ-1 and androgen receptor to form a ternary complex in cells. This binding protein recruits histone-deacetylase complexes in order to repress transcription activity of androgen receptor. This protein may also play a role in spermatogenesis and fertilization. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 G A 14: 118,835,051 (GRCm39) probably benign Het
BC051665 T A 13: 60,932,451 (GRCm39) N78I probably damaging Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Cep290 A C 10: 100,353,725 (GRCm39) Q819H probably damaging Het
Cep70 T C 9: 99,136,318 (GRCm39) I7T probably benign Het
Chd1l C T 3: 97,490,047 (GRCm39) E503K probably benign Het
Cit T A 5: 115,989,280 (GRCm39) F56I probably benign Het
Colec10 T C 15: 54,325,835 (GRCm39) F222L possibly damaging Het
Crocc G A 4: 140,762,675 (GRCm39) A769V probably benign Het
Ctcf T C 8: 106,397,909 (GRCm39) probably benign Het
Ect2l T C 10: 18,018,852 (GRCm39) R607G possibly damaging Het
Eif1ad T G 19: 5,420,111 (GRCm39) *171G probably null Het
Gvin-ps6 A G 7: 106,022,264 (GRCm39) V246A probably damaging Het
H2-D1 A G 17: 35,482,908 (GRCm39) D146G probably damaging Het
Iqub C T 6: 24,505,884 (GRCm39) R8H probably benign Het
Itih4 A T 14: 30,609,906 (GRCm39) I79F probably damaging Het
Kdm5d G A Y: 941,282 (GRCm39) R1161H probably damaging Het
Map4 T C 9: 109,897,648 (GRCm39) S675P probably benign Het
Mfsd4b3-ps A T 10: 39,823,222 (GRCm39) V346E probably damaging Het
Or1j21 A T 2: 36,683,601 (GRCm39) M118L probably damaging Het
Or2ad1 C T 13: 21,326,337 (GRCm39) V297I probably benign Het
Or7d11 T A 9: 19,966,757 (GRCm39) M1L probably benign Het
P2rx1 A C 11: 72,903,784 (GRCm39) K282T probably damaging Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Ptprj A T 2: 90,274,758 (GRCm39) probably null Het
Pwp1 A G 10: 85,721,726 (GRCm39) I411V probably benign Het
Rnaset2b T C 17: 7,256,169 (GRCm39) S12P probably damaging Het
Rrs1 C A 1: 9,616,026 (GRCm39) probably null Het
Ryr2 T C 13: 11,774,589 (GRCm39) E1189G probably damaging Het
Slc25a21 T A 12: 56,785,272 (GRCm39) I202F probably benign Het
Tcfl5 A G 2: 180,264,440 (GRCm39) V472A probably benign Het
Ttc12 A T 9: 49,369,487 (GRCm39) probably benign Het
Ugt2b1 T G 5: 87,073,988 (GRCm39) I124L probably benign Het
Usp14 A T 18: 9,997,763 (GRCm39) N357K probably benign Het
Other mutations in Efcab6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00819:Efcab6 APN 15 83,902,843 (GRCm39) missense probably benign 0.09
IGL00946:Efcab6 APN 15 83,902,897 (GRCm39) missense probably benign 0.19
IGL01063:Efcab6 APN 15 83,938,713 (GRCm39) start codon destroyed probably null 0.53
IGL01330:Efcab6 APN 15 83,928,501 (GRCm39) missense probably benign 0.26
IGL01372:Efcab6 APN 15 83,928,505 (GRCm39) missense possibly damaging 0.62
IGL01644:Efcab6 APN 15 83,917,273 (GRCm39) missense probably damaging 0.97
IGL02175:Efcab6 APN 15 83,780,301 (GRCm39) missense probably damaging 0.98
IGL02449:Efcab6 APN 15 83,894,234 (GRCm39) missense probably benign 0.00
IGL02514:Efcab6 APN 15 83,755,512 (GRCm39) splice site probably benign
IGL02514:Efcab6 APN 15 83,917,143 (GRCm39) missense possibly damaging 0.91
IGL02538:Efcab6 APN 15 83,938,722 (GRCm39) start gained probably benign
IGL02623:Efcab6 APN 15 83,763,649 (GRCm39) missense probably damaging 0.99
IGL02735:Efcab6 APN 15 83,783,898 (GRCm39) missense probably damaging 1.00
IGL03139:Efcab6 APN 15 83,836,422 (GRCm39) missense probably benign 0.04
IGL03274:Efcab6 APN 15 83,752,450 (GRCm39) missense probably damaging 1.00
IGL03400:Efcab6 APN 15 83,751,246 (GRCm39) utr 3 prime probably benign
P0045:Efcab6 UTSW 15 83,802,400 (GRCm39) missense probably damaging 1.00
PIT4445001:Efcab6 UTSW 15 83,788,468 (GRCm39) missense probably benign 0.03
PIT4486001:Efcab6 UTSW 15 83,857,514 (GRCm39) missense probably benign 0.00
PIT4618001:Efcab6 UTSW 15 83,867,647 (GRCm39) missense probably benign 0.25
R0520:Efcab6 UTSW 15 83,834,247 (GRCm39) missense probably benign 0.00
R0575:Efcab6 UTSW 15 83,851,901 (GRCm39) missense probably benign 0.28
R0648:Efcab6 UTSW 15 83,817,265 (GRCm39) splice site probably benign
R0894:Efcab6 UTSW 15 83,802,493 (GRCm39) missense probably benign 0.00
R0975:Efcab6 UTSW 15 83,857,532 (GRCm39) missense probably benign 0.00
R1625:Efcab6 UTSW 15 83,831,839 (GRCm39) missense probably benign
R1651:Efcab6 UTSW 15 83,755,194 (GRCm39) missense possibly damaging 0.50
R1691:Efcab6 UTSW 15 83,817,407 (GRCm39) missense probably benign 0.01
R1844:Efcab6 UTSW 15 83,851,822 (GRCm39) missense possibly damaging 0.47
R1929:Efcab6 UTSW 15 83,777,163 (GRCm39) splice site probably benign
R1983:Efcab6 UTSW 15 83,777,163 (GRCm39) splice site probably benign
R2100:Efcab6 UTSW 15 83,777,168 (GRCm39) splice site probably null
R2271:Efcab6 UTSW 15 83,831,200 (GRCm39) missense probably benign
R2329:Efcab6 UTSW 15 83,834,249 (GRCm39) missense possibly damaging 0.90
R3618:Efcab6 UTSW 15 83,834,270 (GRCm39) missense probably benign 0.00
R3687:Efcab6 UTSW 15 83,755,479 (GRCm39) nonsense probably null
R3688:Efcab6 UTSW 15 83,755,479 (GRCm39) nonsense probably null
R4212:Efcab6 UTSW 15 83,777,064 (GRCm39) missense probably damaging 1.00
R4223:Efcab6 UTSW 15 83,751,309 (GRCm39) missense probably damaging 1.00
R4459:Efcab6 UTSW 15 83,788,490 (GRCm39) missense probably damaging 1.00
R4578:Efcab6 UTSW 15 83,817,369 (GRCm39) missense probably benign 0.00
R4600:Efcab6 UTSW 15 83,831,126 (GRCm39) missense probably benign
R5174:Efcab6 UTSW 15 83,938,687 (GRCm39) missense probably benign
R5260:Efcab6 UTSW 15 83,829,324 (GRCm39) missense probably benign 0.01
R5576:Efcab6 UTSW 15 83,834,201 (GRCm39) missense probably benign 0.05
R5718:Efcab6 UTSW 15 83,788,439 (GRCm39) missense probably damaging 1.00
R5797:Efcab6 UTSW 15 83,808,478 (GRCm39) missense possibly damaging 0.82
R6027:Efcab6 UTSW 15 83,851,922 (GRCm39) missense probably benign
R6110:Efcab6 UTSW 15 83,763,835 (GRCm39) missense possibly damaging 0.69
R6132:Efcab6 UTSW 15 83,917,173 (GRCm39) missense probably damaging 1.00
R6166:Efcab6 UTSW 15 83,780,316 (GRCm39) missense probably benign 0.01
R6228:Efcab6 UTSW 15 83,851,825 (GRCm39) missense possibly damaging 0.67
R6341:Efcab6 UTSW 15 83,820,139 (GRCm39) missense possibly damaging 0.65
R6445:Efcab6 UTSW 15 83,752,558 (GRCm39) missense probably damaging 1.00
R6494:Efcab6 UTSW 15 83,928,523 (GRCm39) critical splice acceptor site probably null
R6611:Efcab6 UTSW 15 83,777,036 (GRCm39) missense possibly damaging 0.68
R7392:Efcab6 UTSW 15 83,873,152 (GRCm39) missense probably benign 0.39
R7599:Efcab6 UTSW 15 83,755,189 (GRCm39) missense probably damaging 1.00
R7711:Efcab6 UTSW 15 83,834,125 (GRCm39) missense probably benign 0.00
R7873:Efcab6 UTSW 15 83,902,826 (GRCm39) critical splice donor site probably null
R8031:Efcab6 UTSW 15 83,867,699 (GRCm39) missense possibly damaging 0.90
R8075:Efcab6 UTSW 15 83,851,824 (GRCm39) missense probably damaging 0.99
R8209:Efcab6 UTSW 15 83,788,456 (GRCm39) missense probably benign 0.04
R8226:Efcab6 UTSW 15 83,788,456 (GRCm39) missense probably benign 0.04
R8710:Efcab6 UTSW 15 83,902,849 (GRCm39) missense probably benign 0.00
R8869:Efcab6 UTSW 15 83,928,432 (GRCm39) missense probably damaging 0.97
R8890:Efcab6 UTSW 15 83,829,349 (GRCm39) missense probably damaging 1.00
R9278:Efcab6 UTSW 15 83,777,094 (GRCm39) missense probably damaging 1.00
R9383:Efcab6 UTSW 15 83,756,620 (GRCm39) missense possibly damaging 0.85
R9641:Efcab6 UTSW 15 83,763,676 (GRCm39) missense probably damaging 0.98
X0019:Efcab6 UTSW 15 83,763,684 (GRCm39) missense possibly damaging 0.92
X0064:Efcab6 UTSW 15 83,867,694 (GRCm39) missense probably benign 0.08
Z1088:Efcab6 UTSW 15 83,839,210 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGATCACAGTTAGGCTCCACAACC -3'
(R):5'- ACAGAACAGTGCTATGCTGCACC -3'

Sequencing Primer
(F):5'- GTTAGGCTCCACAACCTAAGGTC -3'
(R):5'- CATGGGGATGCCATGCC -3'
Posted On 2014-01-29