Incidental Mutation 'R6132:Efcab6'
ID 487202
Institutional Source Beutler Lab
Gene Symbol Efcab6
Ensembl Gene ENSMUSG00000022441
Gene Name EF-hand calcium binding domain 6
Synonyms 4932408N08Rik, 4931407K02Rik
MMRRC Submission 044279-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6132 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 83750913-83949580 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83917173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 129 (L129P)
Ref Sequence ENSEMBL: ENSMUSP00000114909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000156187]
AlphaFold Q6P1E8
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117961
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122836
Predicted Effect probably damaging
Transcript: ENSMUST00000156187
AA Change: L129P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114909
Gene: ENSMUSG00000022441
AA Change: L129P

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
Meta Mutation Damage Score 0.6441 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (49/51)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,960,643 (GRCm39) Y702H probably benign Het
Adgrv1 G T 13: 81,654,195 (GRCm39) N2225K probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Alkbh5 G T 11: 60,428,821 (GRCm39) probably benign Het
Atp5mc1 A G 11: 95,965,850 (GRCm39) M1T probably null Het
Crebrf C T 17: 26,982,377 (GRCm39) P588S probably benign Het
Ctsr A C 13: 61,309,582 (GRCm39) probably null Het
Cyp2c68 A G 19: 39,691,858 (GRCm39) V355A possibly damaging Het
Ddx52 A G 11: 83,850,283 (GRCm39) K555E possibly damaging Het
Depdc5 T A 5: 33,067,811 (GRCm39) S410T probably damaging Het
Dhx30 A T 9: 109,914,847 (GRCm39) I884N probably damaging Het
Dlg1 A T 16: 31,655,059 (GRCm39) N518I possibly damaging Het
Dnah12 T A 14: 26,439,066 (GRCm39) I506N probably damaging Het
Erap1 A G 13: 74,808,401 (GRCm39) N38D probably benign Het
Esf1 A G 2: 140,001,699 (GRCm39) F383L probably benign Het
Exoc4 A G 6: 33,735,033 (GRCm39) E550G probably damaging Het
Fbxo44 G A 4: 148,240,565 (GRCm39) T221I probably benign Het
Gal3st2b A T 1: 93,867,688 (GRCm39) M112L possibly damaging Het
Golph3l C G 3: 95,499,145 (GRCm39) P96A probably benign Het
Gprc6a T A 10: 51,491,356 (GRCm39) I727F possibly damaging Het
Grin3b T C 10: 79,812,274 (GRCm39) L479P probably damaging Het
Kdm5a C T 6: 120,351,892 (GRCm39) H161Y probably damaging Het
Lman2 A G 13: 55,510,038 (GRCm39) S73P probably benign Het
Map3k19 T C 1: 127,778,213 (GRCm39) N4S possibly damaging Het
Mkln1 G A 6: 31,408,155 (GRCm39) V161M probably damaging Het
Mmel1 C T 4: 154,979,475 (GRCm39) H728Y probably damaging Het
Nova2 G A 7: 18,691,794 (GRCm39) A244T unknown Het
Nrcam T A 12: 44,617,007 (GRCm39) Y668N probably damaging Het
Oacyl G T 18: 65,859,426 (GRCm39) G255W probably damaging Het
Omd A C 13: 49,743,843 (GRCm39) I298L probably damaging Het
Or5ac19 A G 16: 59,089,367 (GRCm39) V221A probably damaging Het
Or5ak24 A T 2: 85,260,490 (GRCm39) S228T probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Otor A T 2: 142,920,520 (GRCm39) D34V probably damaging Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Pwwp2a A G 11: 43,596,455 (GRCm39) Y540C probably damaging Het
Rttn T A 18: 89,133,770 (GRCm39) probably null Het
S1pr4 G A 10: 81,335,030 (GRCm39) A148V probably benign Het
Scn10a C T 9: 119,442,761 (GRCm39) V1495M possibly damaging Het
Sel1l3 T C 5: 53,357,531 (GRCm39) K154E possibly damaging Het
Sema3a T G 5: 13,573,142 (GRCm39) probably null Het
Slf2 T A 19: 44,949,300 (GRCm39) N870K possibly damaging Het
Spmip6 C T 4: 41,517,160 (GRCm39) M1I probably null Het
Syne2 T C 12: 75,991,921 (GRCm39) V1962A probably benign Het
Tarbp1 T A 8: 127,161,548 (GRCm39) I1219F probably benign Het
Tet1 A C 10: 62,649,079 (GRCm39) C173W probably damaging Het
Tnn A G 1: 159,973,641 (GRCm39) F242S probably damaging Het
Tollip A G 7: 141,443,334 (GRCm39) S174P probably benign Het
Tsr3 G T 17: 25,460,835 (GRCm39) D234Y probably null Het
Vmn2r106 T C 17: 20,488,666 (GRCm39) T578A probably benign Het
Zfp457 G T 13: 67,441,360 (GRCm39) S309* probably null 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
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'- AGTGAATTGTGGCCGATGAAC -3'
(R):5'- CTTGGTTTAAGTGCGTTCACCG -3'

Sequencing Primer
(F):5'- TTGTGGCCGATGAACAACGC -3'
(R):5'- GGGTGTCTCTGTCTCATCCACAG -3'
Posted On 2017-10-10