Incidental Mutation 'R0051:Ecpas'
ID 64275
Institutional Source Beutler Lab
Gene Symbol Ecpas
Ensembl Gene ENSMUSG00000050812
Gene Name Ecm29 proteasome adaptor and scaffold
Synonyms AI314180
MMRRC Submission 038345-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.352) question?
Stock # R0051 (G1)
Quality Score 180
Status Validated
Chromosome 4
Chromosomal Location 58798911-58912749 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58832729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 877 (L877S)
Ref Sequence ENSEMBL: ENSMUSP00000117585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102889] [ENSMUST00000107557] [ENSMUST00000149301]
AlphaFold Q6PDI5
Predicted Effect probably damaging
Transcript: ENSMUST00000102889
AA Change: L877S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099953
Gene: ENSMUSG00000050812
AA Change: L877S

DomainStartEndE-ValueType
Pfam:Ecm29 10 517 1.1e-155 PFAM
low complexity region 627 642 N/A INTRINSIC
low complexity region 653 665 N/A INTRINSIC
SCOP:d1qbkb_ 693 1491 3e-31 SMART
low complexity region 1781 1797 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107557
AA Change: L877S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103182
Gene: ENSMUSG00000050812
AA Change: L877S

DomainStartEndE-ValueType
Pfam:Ecm29 10 517 7.6e-164 PFAM
low complexity region 627 642 N/A INTRINSIC
low complexity region 653 665 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135601
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142102
Predicted Effect probably damaging
Transcript: ENSMUST00000149301
AA Change: L877S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117585
Gene: ENSMUSG00000050812
AA Change: L877S

DomainStartEndE-ValueType
Pfam:Ecm29 10 517 4e-163 PFAM
low complexity region 627 642 N/A INTRINSIC
low complexity region 653 665 N/A INTRINSIC
SCOP:d1qbkb_ 693 1490 8e-32 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151869
Meta Mutation Damage Score 0.3023 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 93.8%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A G 7: 29,278,526 (GRCm39) noncoding transcript Het
Abr T A 11: 76,363,328 (GRCm39) Q163L probably benign Het
Ankrd11 C A 8: 123,616,481 (GRCm39) C2457F probably damaging Het
Anks3 G C 16: 4,765,613 (GRCm39) T163S probably benign Het
Cacna1d G A 14: 29,833,052 (GRCm39) P908S probably damaging Het
Ccdc146 C A 5: 21,521,902 (GRCm39) R374L possibly damaging Het
Cdc45 G T 16: 18,613,524 (GRCm39) A348E probably damaging Het
Cfap46 A G 7: 139,255,951 (GRCm39) C300R probably damaging Het
Cimap1a C A 7: 140,430,134 (GRCm39) probably benign Het
Coq2 T C 5: 100,811,551 (GRCm39) N146S probably benign Het
Dalrd3 T C 9: 108,449,414 (GRCm39) V120A possibly damaging Het
Dcp2 T A 18: 44,538,441 (GRCm39) probably benign Het
Ddx39a A G 8: 84,447,251 (GRCm39) K137R possibly damaging Het
Diaph3 A G 14: 87,274,890 (GRCm39) probably null Het
Dmbt1 G T 7: 130,721,225 (GRCm39) R1668L possibly damaging Het
Dnah7a T G 1: 53,560,245 (GRCm39) probably benign Het
Dpp7 A G 2: 25,246,107 (GRCm39) Y49H possibly damaging Het
Drd5 A G 5: 38,477,957 (GRCm39) S317G probably benign Het
Ecsit C T 9: 21,987,584 (GRCm39) V152I probably benign Het
Eeig1 G A 2: 32,448,065 (GRCm39) R58Q possibly damaging Het
Emc1 T A 4: 139,102,474 (GRCm39) M923K possibly damaging Het
Fcrl6 A T 1: 172,426,320 (GRCm39) L159Q probably benign Het
Frrs1 T C 3: 116,678,946 (GRCm39) probably benign Het
Hspd1 A G 1: 55,121,205 (GRCm39) probably benign Het
Impg2 T A 16: 56,078,411 (GRCm39) S458T probably damaging Het
Klf17 T C 4: 117,617,589 (GRCm39) Y256C probably damaging Het
Lnx2 A G 5: 146,966,163 (GRCm39) F319L probably damaging Het
Mafg G T 11: 120,520,430 (GRCm39) R57S probably damaging Het
Med13l T A 5: 118,880,720 (GRCm39) W1271R probably damaging Het
Mrgprb1 A G 7: 48,096,962 (GRCm39) S24P probably benign Het
Mtrf1l T C 10: 5,763,384 (GRCm39) E315G probably damaging Het
Naip1 T C 13: 100,547,509 (GRCm39) E1239G probably damaging Het
Ncaph2 T C 15: 89,253,867 (GRCm39) S320P probably damaging Het
Nek11 A G 9: 105,095,738 (GRCm39) probably benign Het
Nlrp2 A T 7: 5,325,333 (GRCm39) probably benign Het
Rbm26 A C 14: 105,389,976 (GRCm39) V216G possibly damaging Het
Rnf115 A G 3: 96,692,338 (GRCm39) D178G probably damaging Het
Rtel1 C T 2: 180,992,449 (GRCm39) Q424* probably null Het
Rwdd4a A G 8: 47,990,400 (GRCm39) probably benign Het
Ryr3 T C 2: 112,699,420 (GRCm39) D890G probably damaging Het
Scarb1 C A 5: 125,358,164 (GRCm39) probably null Het
Serpina10 A G 12: 103,593,156 (GRCm39) probably benign Het
Slc12a5 T A 2: 164,828,583 (GRCm39) W508R probably damaging Het
Slc43a2 T C 11: 75,453,676 (GRCm39) C225R probably damaging Het
Slc6a9 T C 4: 117,722,056 (GRCm39) F440L probably damaging Het
Stac3 G A 10: 127,344,017 (GRCm39) R305H probably damaging Het
Stk32b A G 5: 37,616,940 (GRCm39) probably benign Het
Syna A T 5: 134,588,397 (GRCm39) L184H probably damaging Het
Tmprss7 T C 16: 45,494,302 (GRCm39) N401S probably damaging Het
Tut4 T G 4: 108,384,201 (GRCm39) S1089R probably damaging Het
Yeats2 T A 16: 20,012,474 (GRCm39) Y557* probably null Het
Zfp352 T C 4: 90,112,522 (GRCm39) S221P probably damaging Het
Zfp575 A G 7: 24,285,512 (GRCm39) V43A probably benign Het
Zfp775 A G 6: 48,597,706 (GRCm39) T527A probably benign Het
Other mutations in Ecpas
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00799:Ecpas APN 4 58,828,047 (GRCm39) missense possibly damaging 0.95
IGL01145:Ecpas APN 4 58,811,501 (GRCm39) missense probably null 0.08
IGL01371:Ecpas APN 4 58,809,718 (GRCm39) missense probably damaging 1.00
IGL01445:Ecpas APN 4 58,833,988 (GRCm39) missense probably benign 0.08
IGL01452:Ecpas APN 4 58,836,181 (GRCm39) missense probably damaging 0.99
IGL01626:Ecpas APN 4 58,832,814 (GRCm39) splice site probably benign
IGL01672:Ecpas APN 4 58,814,041 (GRCm39) missense probably benign 0.40
IGL01943:Ecpas APN 4 58,849,937 (GRCm39) missense possibly damaging 0.91
IGL01944:Ecpas APN 4 58,861,544 (GRCm39) missense probably benign 0.42
IGL02190:Ecpas APN 4 58,800,190 (GRCm39) missense probably benign 0.12
IGL02272:Ecpas APN 4 58,811,731 (GRCm39) missense probably benign 0.00
IGL02435:Ecpas APN 4 58,830,325 (GRCm39) splice site probably benign
IGL02516:Ecpas APN 4 58,877,102 (GRCm39) missense probably damaging 1.00
IGL02540:Ecpas APN 4 58,805,534 (GRCm39) splice site probably benign
IGL02709:Ecpas APN 4 58,872,699 (GRCm39) missense possibly damaging 0.90
IGL02742:Ecpas APN 4 58,840,757 (GRCm39) missense probably damaging 0.96
IGL02812:Ecpas APN 4 58,864,343 (GRCm39) splice site probably benign
IGL02828:Ecpas APN 4 58,875,512 (GRCm39) missense possibly damaging 0.59
IGL03130:Ecpas APN 4 58,800,288 (GRCm39) missense probably benign
IGL03179:Ecpas APN 4 58,832,777 (GRCm39) missense probably damaging 1.00
IGL03237:Ecpas APN 4 58,810,668 (GRCm39) missense probably benign 0.40
IGL03344:Ecpas APN 4 58,828,538 (GRCm39) missense probably damaging 1.00
boone UTSW 4 58,877,157 (GRCm39) missense probably damaging 1.00
Crockett UTSW 4 58,879,100 (GRCm39) missense probably damaging 1.00
frontiersman UTSW 4 58,832,753 (GRCm39) missense probably benign
BB006:Ecpas UTSW 4 58,869,554 (GRCm39) missense probably damaging 1.00
BB016:Ecpas UTSW 4 58,869,554 (GRCm39) missense probably damaging 1.00
R0051:Ecpas UTSW 4 58,832,729 (GRCm39) missense probably damaging 1.00
R0313:Ecpas UTSW 4 58,811,892 (GRCm39) missense probably benign 0.11
R0399:Ecpas UTSW 4 58,827,047 (GRCm39) missense possibly damaging 0.69
R0487:Ecpas UTSW 4 58,819,155 (GRCm39) missense probably damaging 1.00
R0492:Ecpas UTSW 4 58,864,418 (GRCm39) missense probably damaging 1.00
R0705:Ecpas UTSW 4 58,885,366 (GRCm39) critical splice donor site probably null
R0847:Ecpas UTSW 4 58,841,439 (GRCm39) missense probably benign 0.14
R1467:Ecpas UTSW 4 58,832,753 (GRCm39) missense probably benign
R1467:Ecpas UTSW 4 58,832,753 (GRCm39) missense probably benign
R1482:Ecpas UTSW 4 58,820,163 (GRCm39) missense possibly damaging 0.85
R1529:Ecpas UTSW 4 58,832,701 (GRCm39) splice site probably null
R1771:Ecpas UTSW 4 58,879,100 (GRCm39) missense probably damaging 1.00
R1776:Ecpas UTSW 4 58,879,100 (GRCm39) missense probably damaging 1.00
R1822:Ecpas UTSW 4 58,805,539 (GRCm39) critical splice donor site probably null
R1864:Ecpas UTSW 4 58,849,942 (GRCm39) missense possibly damaging 0.62
R2029:Ecpas UTSW 4 58,844,165 (GRCm39) nonsense probably null
R2061:Ecpas UTSW 4 58,824,270 (GRCm39) missense probably damaging 1.00
R2125:Ecpas UTSW 4 58,833,978 (GRCm39) missense probably benign
R2266:Ecpas UTSW 4 58,830,332 (GRCm39) critical splice donor site probably null
R2889:Ecpas UTSW 4 58,836,165 (GRCm39) missense probably benign
R2902:Ecpas UTSW 4 58,809,691 (GRCm39) missense probably benign 0.31
R2903:Ecpas UTSW 4 58,828,622 (GRCm39) missense possibly damaging 0.50
R2925:Ecpas UTSW 4 58,833,928 (GRCm39) nonsense probably null
R4151:Ecpas UTSW 4 58,836,254 (GRCm39) missense possibly damaging 0.51
R4225:Ecpas UTSW 4 58,847,027 (GRCm39) missense probably damaging 1.00
R4486:Ecpas UTSW 4 58,820,086 (GRCm39) intron probably benign
R4576:Ecpas UTSW 4 58,834,708 (GRCm39) intron probably benign
R4580:Ecpas UTSW 4 58,840,751 (GRCm39) missense probably damaging 1.00
R4654:Ecpas UTSW 4 58,834,523 (GRCm39) missense possibly damaging 0.86
R4688:Ecpas UTSW 4 58,840,757 (GRCm39) missense probably damaging 0.96
R4726:Ecpas UTSW 4 58,844,191 (GRCm39) missense probably damaging 1.00
R4825:Ecpas UTSW 4 58,850,911 (GRCm39) missense probably damaging 0.99
R4928:Ecpas UTSW 4 58,827,073 (GRCm39) missense probably damaging 1.00
R5098:Ecpas UTSW 4 58,877,048 (GRCm39) missense probably damaging 1.00
R5284:Ecpas UTSW 4 58,836,172 (GRCm39) missense possibly damaging 0.90
R5375:Ecpas UTSW 4 58,809,401 (GRCm39) nonsense probably null
R5382:Ecpas UTSW 4 58,850,934 (GRCm39) missense probably benign 0.38
R5487:Ecpas UTSW 4 58,809,421 (GRCm39) missense probably benign 0.22
R5703:Ecpas UTSW 4 58,877,171 (GRCm39) splice site probably null
R5761:Ecpas UTSW 4 58,853,131 (GRCm39) missense probably damaging 1.00
R5791:Ecpas UTSW 4 58,822,111 (GRCm39) missense probably damaging 1.00
R5791:Ecpas UTSW 4 58,814,027 (GRCm39) missense possibly damaging 0.90
R5928:Ecpas UTSW 4 58,849,948 (GRCm39) missense possibly damaging 0.59
R6062:Ecpas UTSW 4 58,826,453 (GRCm39) missense possibly damaging 0.84
R6246:Ecpas UTSW 4 58,811,365 (GRCm39) splice site probably null
R6298:Ecpas UTSW 4 58,877,157 (GRCm39) missense probably damaging 1.00
R6326:Ecpas UTSW 4 58,827,068 (GRCm39) missense probably benign 0.34
R6478:Ecpas UTSW 4 58,810,785 (GRCm39) missense probably damaging 1.00
R6707:Ecpas UTSW 4 58,879,101 (GRCm39) missense possibly damaging 0.52
R6846:Ecpas UTSW 4 58,814,081 (GRCm39) missense possibly damaging 0.85
R6857:Ecpas UTSW 4 58,814,065 (GRCm39) missense probably damaging 1.00
R6951:Ecpas UTSW 4 58,853,114 (GRCm39) critical splice donor site probably null
R7088:Ecpas UTSW 4 58,849,766 (GRCm39) missense possibly damaging 0.93
R7302:Ecpas UTSW 4 58,834,593 (GRCm39) missense probably benign 0.43
R7337:Ecpas UTSW 4 58,827,047 (GRCm39) missense possibly damaging 0.69
R7341:Ecpas UTSW 4 58,809,415 (GRCm39) missense possibly damaging 0.94
R7344:Ecpas UTSW 4 58,824,770 (GRCm39) missense probably benign 0.08
R7525:Ecpas UTSW 4 58,847,038 (GRCm39) missense possibly damaging 0.84
R7530:Ecpas UTSW 4 58,815,317 (GRCm39) missense probably damaging 0.99
R7533:Ecpas UTSW 4 58,809,411 (GRCm39) missense probably benign 0.12
R7557:Ecpas UTSW 4 58,849,691 (GRCm39) missense possibly damaging 0.85
R7698:Ecpas UTSW 4 58,832,660 (GRCm39) missense unknown
R7793:Ecpas UTSW 4 58,853,150 (GRCm39) missense probably damaging 1.00
R7892:Ecpas UTSW 4 58,828,593 (GRCm39) missense probably benign
R7894:Ecpas UTSW 4 58,853,708 (GRCm39) missense probably damaging 1.00
R7929:Ecpas UTSW 4 58,869,554 (GRCm39) missense probably damaging 1.00
R8010:Ecpas UTSW 4 58,832,681 (GRCm39) missense unknown
R8082:Ecpas UTSW 4 58,807,852 (GRCm39) missense probably benign 0.00
R8175:Ecpas UTSW 4 58,872,756 (GRCm39) missense probably damaging 1.00
R8191:Ecpas UTSW 4 58,872,587 (GRCm39) critical splice donor site probably null
R8326:Ecpas UTSW 4 58,847,093 (GRCm39) missense probably damaging 1.00
R8459:Ecpas UTSW 4 58,821,379 (GRCm39) missense probably damaging 1.00
R8683:Ecpas UTSW 4 58,834,515 (GRCm39) missense probably benign 0.31
R8747:Ecpas UTSW 4 58,828,632 (GRCm39) missense probably damaging 0.98
R8981:Ecpas UTSW 4 58,801,796 (GRCm39) missense probably benign
R9206:Ecpas UTSW 4 58,875,444 (GRCm39) missense probably damaging 1.00
R9208:Ecpas UTSW 4 58,875,444 (GRCm39) missense probably damaging 1.00
R9231:Ecpas UTSW 4 58,875,533 (GRCm39) missense probably damaging 1.00
R9249:Ecpas UTSW 4 58,869,427 (GRCm39) missense probably damaging 1.00
R9355:Ecpas UTSW 4 58,844,114 (GRCm39) missense probably benign 0.23
R9534:Ecpas UTSW 4 58,807,867 (GRCm39) missense probably benign
R9555:Ecpas UTSW 4 58,879,083 (GRCm39) missense possibly damaging 0.92
R9570:Ecpas UTSW 4 58,832,796 (GRCm39) nonsense probably null
R9673:Ecpas UTSW 4 58,822,060 (GRCm39) missense probably benign
R9707:Ecpas UTSW 4 58,824,816 (GRCm39) critical splice acceptor site probably null
R9721:Ecpas UTSW 4 58,850,938 (GRCm39) missense probably benign 0.39
X0060:Ecpas UTSW 4 58,840,752 (GRCm39) missense possibly damaging 0.73
Z1177:Ecpas UTSW 4 58,861,614 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CGGCGGCAGCAGCGAAATTA -3'
(R):5'- AGCATAGGCATCAGTATATGAGGCAGAT -3'

Sequencing Primer
(F):5'- accctgactaagacaagcac -3'
(R):5'- AGGCAGATTGTCTCTTCCTG -3'
Posted On 2013-08-06