Incidental Mutation 'R7873:Efcab6'
ID 608281
Institutional Source Beutler Lab
Gene Symbol Efcab6
Ensembl Gene ENSMUSG00000022441
Gene Name EF-hand calcium binding domain 6
Synonyms 4932408N08Rik, 4931407K02Rik
MMRRC Submission 045925-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7873 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 83750913-83949580 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 83902826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000156187] [ENSMUST00000156187] [ENSMUST00000156187]
AlphaFold Q6P1E8
Predicted Effect probably null
Transcript: ENSMUST00000156187
SMART Domains Protein: ENSMUSP00000114909
Gene: ENSMUSG00000022441

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 null
Transcript: ENSMUST00000156187
SMART Domains Protein: ENSMUSP00000114909
Gene: ENSMUSG00000022441

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 null
Transcript: ENSMUST00000156187
SMART Domains Protein: ENSMUSP00000114909
Gene: ENSMUSG00000022441

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A T 16: 4,684,091 (GRCm39) I229F probably benign Het
Abca14 T C 7: 119,888,792 (GRCm39) L1246S probably benign Het
Abtb3 T C 10: 85,466,989 (GRCm39) V685A possibly damaging Het
Acacb A C 5: 114,361,339 (GRCm39) S1340R possibly damaging Het
Ankrd6 A T 4: 32,806,499 (GRCm39) S585T possibly damaging Het
Ark2c T C 18: 77,554,449 (GRCm39) D248G possibly damaging Het
Ccdc54 A G 16: 50,410,672 (GRCm39) V198A probably benign Het
Cnga4 A G 7: 105,056,249 (GRCm39) I387V probably damaging Het
Creg1 G T 1: 165,597,448 (GRCm39) D141Y probably damaging Het
Cxcr2 T C 1: 74,198,166 (GRCm39) L220P probably benign Het
Dennd5a T A 7: 109,526,141 (GRCm39) I344F probably damaging Het
Dysf A G 6: 84,060,747 (GRCm39) N448S probably benign Het
Elf2 C A 3: 51,164,099 (GRCm39) V489F probably damaging Het
Elmod2 G T 8: 84,057,848 (GRCm39) H12N probably benign Het
Eln C T 5: 134,740,041 (GRCm39) G618E unknown Het
Fbxo33 G T 12: 59,265,807 (GRCm39) S153R possibly damaging Het
Fbxw7 A T 3: 84,833,071 (GRCm39) I38F possibly damaging Het
Flnc G A 6: 29,456,990 (GRCm39) V2329I possibly damaging Het
Fsip2 C T 2: 82,779,856 (GRCm39) R201C probably damaging Het
Gpr155 T C 2: 73,173,934 (GRCm39) E825G possibly damaging Het
Grk3 A T 5: 113,077,552 (GRCm39) M405K probably benign Het
H2bc7 A T 13: 23,758,244 (GRCm39) Y41N probably damaging Het
Hace1 T C 10: 45,548,883 (GRCm39) V597A possibly damaging Het
Ido1 A G 8: 25,074,758 (GRCm39) F295S probably damaging Het
Ighe T A 12: 113,234,942 (GRCm39) E406V Het
Ighv1-31 G T 12: 114,793,274 (GRCm39) A15E probably benign Het
Ighv1-75 A T 12: 115,797,988 (GRCm39) L10H probably damaging Het
Inpp5e T A 2: 26,297,957 (GRCm39) K215* probably null Het
Iqcn A G 8: 71,163,989 (GRCm39) M1061V probably benign Het
Krt18 C T 15: 101,939,391 (GRCm39) T288I probably benign Het
Lrwd1 A T 5: 136,152,792 (GRCm39) I490N probably benign Het
Macf1 T A 4: 123,398,344 (GRCm39) probably null Het
Mapk8ip3 A G 17: 25,125,146 (GRCm39) V482A probably benign Het
Mcidas G A 13: 113,135,521 (GRCm39) G315S probably damaging Het
Mdk A G 2: 91,761,773 (GRCm39) F7S probably benign Het
Mycbp2 G A 14: 103,393,582 (GRCm39) P2993L probably damaging Het
Niban3 A T 8: 72,054,892 (GRCm39) I193F probably damaging Het
Nme4 A T 17: 26,312,862 (GRCm39) Y99N probably damaging Het
Nr1d2 G A 14: 18,216,656 (GRCm38) R171* probably null Het
Or10h28 A G 17: 33,488,348 (GRCm39) I217V probably benign Het
Osgep G T 14: 51,153,347 (GRCm39) T326K probably damaging Het
Pdgfd C T 9: 6,337,271 (GRCm39) T201M probably benign Het
Pdk4 T C 6: 5,487,086 (GRCm39) D320G probably benign Het
Pelp1 A T 11: 70,285,552 (GRCm39) V772D probably damaging Het
Pkdrej T A 15: 85,700,724 (GRCm39) R1737S probably benign Het
Ppp1r13b A T 12: 111,801,320 (GRCm39) Y578N probably damaging Het
Ppp1r3b A C 8: 35,851,329 (GRCm39) K56T probably benign Het
Prdm11 G T 2: 92,819,628 (GRCm39) H261N probably benign Het
Preb T A 5: 31,116,109 (GRCm39) N166I probably benign Het
Psd3 T C 8: 68,335,634 (GRCm39) K681R possibly damaging Het
Ptgs1 G A 2: 36,141,292 (GRCm39) V580I probably damaging Het
Ptpro T A 6: 137,407,737 (GRCm39) S949T probably benign Het
Pum2 A G 12: 8,798,802 (GRCm39) E973G possibly damaging Het
Rdh1 A G 10: 127,595,892 (GRCm39) D29G probably benign Het
Rel A G 11: 23,692,957 (GRCm39) S359P probably benign Het
Ryr3 T A 2: 112,560,773 (GRCm39) H2996L probably benign Het
Scarb1 C T 5: 125,371,103 (GRCm39) C323Y probably damaging Het
Scn5a C T 9: 119,327,193 (GRCm39) R1309H probably damaging Het
Serpinb12 T A 1: 106,881,469 (GRCm39) V202E probably damaging Het
Shh A G 5: 28,663,298 (GRCm39) L290P possibly damaging Het
Six4 CT C 12: 73,151,013 (GRCm39) probably benign Het
Slc34a2 G A 5: 53,215,714 (GRCm39) G42R probably benign Het
Slc41a1 A G 1: 131,758,561 (GRCm39) N68D possibly damaging Het
Slc7a6os A G 8: 106,937,356 (GRCm39) S64P probably damaging Het
Slco1a7 T A 6: 141,673,448 (GRCm39) L363F probably benign Het
Smc1b A G 15: 84,994,851 (GRCm39) probably null Het
Snx9 T C 17: 5,968,751 (GRCm39) V349A possibly damaging Het
Sstr1 G T 12: 58,260,313 (GRCm39) G312V probably damaging Het
Tnfsf10 A G 3: 27,389,808 (GRCm39) I290V probably benign Het
Trio A G 15: 27,805,770 (GRCm39) C1717R possibly damaging Het
Ttbk1 T G 17: 46,757,494 (GRCm39) S1047R probably damaging Het
Ttn T C 2: 76,746,877 (GRCm39) D4724G probably benign Het
Uba1y T A Y: 825,542 (GRCm39) N301K probably benign Het
Unc5c A G 3: 141,533,310 (GRCm39) T853A probably benign Het
Vmn2r45 T A 7: 8,486,074 (GRCm39) I405L probably benign Het
Wdr37 A T 13: 8,855,969 (GRCm39) M458K probably damaging Het
Zdhhc14 A T 17: 5,762,729 (GRCm39) Y211F probably benign Het
Zfp108 G A 7: 23,960,758 (GRCm39) V450I probably benign Het
Zfp212 A T 6: 47,907,860 (GRCm39) R280* probably null Het
Zfp940 A T 7: 29,535,042 (GRCm39) V108E unknown 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
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
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'- CTGCCCATGTGCTTTCTAAAG -3'
(R):5'- TTACAACATTACAGACACGGGG -3'

Sequencing Primer
(F):5'- GCCCATGTGCTTTCTAAAGAGATGC -3'
(R):5'- GGACCTGCTGTGCTGTC -3'
Posted On 2019-12-20