Incidental Mutation 'R2271:Efcab6'
ID 242509
Institutional Source Beutler Lab
Gene Symbol Efcab6
Ensembl Gene ENSMUSG00000022441
Gene Name EF-hand calcium binding domain 6
Synonyms 4932408N08Rik, 4931407K02Rik
MMRRC Submission 040271-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2271 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 83750913-83949580 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 83831200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 571 (R571S)
Ref Sequence ENSEMBL: ENSMUSP00000114909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000156187]
AlphaFold Q6P1E8
Predicted Effect probably benign
Transcript: ENSMUST00000156187
AA Change: R571S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114909
Gene: ENSMUSG00000022441
AA Change: R571S

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik T A 10: 28,857,575 (GRCm39) Q194L probably damaging Het
Acsf2 T A 11: 94,449,699 (GRCm39) K574* probably null Het
Adam22 T C 5: 8,171,108 (GRCm39) E614G probably damaging Het
Ap4e1 T C 2: 126,889,083 (GRCm39) probably null Het
Arid3c T A 4: 41,724,744 (GRCm39) I364F probably damaging Het
Bcan T A 3: 87,900,401 (GRCm39) S611C probably damaging Het
Birc6 T C 17: 74,909,966 (GRCm39) V1453A probably benign Het
Carnmt1 T C 19: 18,680,734 (GRCm39) L336P probably damaging Het
Ccdc146 C A 5: 21,604,719 (GRCm39) D40Y probably benign Het
Ccdc83 C T 7: 89,873,285 (GRCm39) V357I probably damaging Het
Cdh22 A T 2: 164,985,767 (GRCm39) probably null Het
Cdk5rap2 A C 4: 70,184,915 (GRCm39) S1178R probably benign Het
Cdkl3 T C 11: 51,923,322 (GRCm39) V45A probably benign Het
Chd7 A G 4: 8,785,532 (GRCm39) D612G probably damaging Het
Chst11 T C 10: 83,027,004 (GRCm39) Y144H probably damaging Het
Cops6 A T 5: 138,159,403 (GRCm39) N10I probably benign Het
Cyfip1 G T 7: 55,549,705 (GRCm39) R624L probably null Het
Cyp27a1 A G 1: 74,775,846 (GRCm39) N344D probably damaging Het
Des T G 1: 75,340,137 (GRCm39) M348R probably damaging Het
Dis3l T A 9: 64,238,165 (GRCm39) D109V probably damaging Het
Disp3 C T 4: 148,356,059 (GRCm39) R267Q possibly damaging Het
Dnah3 T A 7: 119,574,352 (GRCm39) I2136F probably benign Het
Dnah9 T C 11: 66,003,188 (GRCm39) D872G probably benign Het
Dnajb14 G A 3: 137,591,141 (GRCm39) G31S probably benign Het
Dop1a T G 9: 86,376,471 (GRCm39) V235G probably damaging Het
Emsy T G 7: 98,275,830 (GRCm39) K352N probably damaging Het
Erbb4 T C 1: 68,238,047 (GRCm39) N814S probably damaging Het
Fgfbp1 T A 5: 44,136,672 (GRCm39) M207L probably benign Het
Filip1 T C 9: 79,727,212 (GRCm39) E469G probably damaging Het
Garem2 T G 5: 30,321,972 (GRCm39) L777R probably damaging Het
Garin5b T A 7: 4,761,186 (GRCm39) T509S probably benign Het
Hkdc1 T C 10: 62,253,677 (GRCm39) T35A probably benign Het
Hps6 C T 19: 45,994,121 (GRCm39) A686V possibly damaging Het
Irs1 T C 1: 82,266,180 (GRCm39) S679G probably benign Het
Ism1 T A 2: 139,599,293 (GRCm39) I415N probably damaging Het
Kdm1b TCATTGTCC TCATTGTCCATTGTCC 13: 47,217,564 (GRCm39) probably null Het
Kpna1 G A 16: 35,851,591 (GRCm39) A392T probably damaging Het
Lipa T A 19: 34,488,290 (GRCm39) R119* probably null Het
Lrrc37 T C 11: 103,505,033 (GRCm39) T2312A possibly damaging Het
Mocs1 A T 17: 49,756,137 (GRCm39) K198M probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Msh5 A G 17: 35,263,366 (GRCm39) I154T probably benign Het
Muc6 T A 7: 141,217,423 (GRCm39) T2417S possibly damaging Het
Ncbp2 T C 16: 31,775,769 (GRCm39) Y138H probably damaging Het
Ndufv1 C A 19: 4,058,347 (GRCm39) R359L probably benign Het
Neu3 G C 7: 99,462,650 (GRCm39) R358G probably benign Het
Ntrk3 A C 7: 78,166,471 (GRCm39) probably null Het
Or1n1 G A 2: 36,749,637 (GRCm39) S241F probably damaging Het
Or8b12i T A 9: 20,082,705 (GRCm39) H54L possibly damaging Het
Or8j3 A G 2: 86,028,161 (GRCm39) F312L probably benign Het
Pik3c2b T C 1: 133,031,166 (GRCm39) S1491P probably benign Het
Plb1 G T 5: 32,450,586 (GRCm39) D376Y probably damaging Het
Plch1 T A 3: 63,651,956 (GRCm39) K378N probably damaging Het
Plekhm1 C T 11: 103,277,948 (GRCm39) E383K probably benign Het
Plxnb1 T C 9: 108,931,776 (GRCm39) probably null Het
Prkdc A G 16: 15,472,681 (GRCm39) probably null Het
Prpf8 T A 11: 75,386,189 (GRCm39) V946E probably damaging Het
Psma5-ps A G 10: 85,149,595 (GRCm39) noncoding transcript Het
Ptprh C A 7: 4,606,132 (GRCm39) probably benign Het
Rngtt T A 4: 33,500,302 (GRCm39) C565* probably null Het
Sacs A G 14: 61,442,109 (GRCm39) H1385R probably benign Het
Sec24a A G 11: 51,607,277 (GRCm39) S656P possibly damaging Het
Serpinb13 A T 1: 106,926,756 (GRCm39) I251L possibly damaging Het
Shc1 G A 3: 89,330,849 (GRCm39) G91S probably damaging Het
Sin3b T A 8: 73,460,047 (GRCm39) N211K probably benign Het
Slc22a2 A T 17: 12,805,692 (GRCm39) M148L probably benign Het
Slc3a1 G A 17: 85,371,220 (GRCm39) V591I probably benign Het
Slc47a2 A T 11: 61,219,352 (GRCm39) probably null Het
Spag17 C T 3: 100,014,113 (GRCm39) P2129S probably damaging Het
Specc1l C T 10: 75,081,438 (GRCm39) S278F probably damaging Het
Sphkap T A 1: 83,234,942 (GRCm39) D1628V probably damaging Het
Themis3 C T 17: 66,862,699 (GRCm39) V420I possibly damaging Het
Ttc39d A G 17: 80,524,675 (GRCm39) K445E probably damaging Het
U2surp T C 9: 95,373,473 (GRCm39) E232G possibly damaging Het
Usp25 T A 16: 76,873,317 (GRCm39) F458L probably damaging Het
Usp7 T C 16: 8,516,333 (GRCm39) S649G probably benign Het
Vmn1r10 A G 6: 57,091,088 (GRCm39) T227A probably damaging Het
Zcchc12 C T X: 35,462,118 (GRCm39) T345M possibly damaging Het
Zfp444 T C 7: 6,192,554 (GRCm39) C191R probably damaging Het
Zfp729b A T 13: 67,740,352 (GRCm39) C648S probably damaging Het
Zfp799 A G 17: 33,040,777 (GRCm39) Y58H probably damaging Het
Zfp938 C T 10: 82,061,381 (GRCm39) G413D probably damaging 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
R1238:Efcab6 UTSW 15 83,817,338 (GRCm39) missense probably benign 0.06
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
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'- ATGCAAGCTAGGGGACTGTC -3'
(R):5'- TCCTGGACACTTGAGATTGAGC -3'

Sequencing Primer
(F):5'- GGGGACTGTCCTCTCTAATTGAC -3'
(R):5'- ATTGTTCTTACAGAGGACCTGAG -3'
Posted On 2014-10-16