Incidental Mutation 'R7337:Ecpas'
ID 569558
Institutional Source Beutler Lab
Gene Symbol Ecpas
Ensembl Gene ENSMUSG00000050812
Gene Name Ecm29 proteasome adaptor and scaffold
Synonyms AI314180
MMRRC Submission 045427-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.366) question?
Stock # R7337 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 58798911-58912749 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58827047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1029 (T1029A)
Ref Sequence ENSEMBL: ENSMUSP00000099953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102889] [ENSMUST00000107557] [ENSMUST00000149301]
AlphaFold Q6PDI5
Predicted Effect possibly damaging
Transcript: ENSMUST00000102889
AA Change: T1029A

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099953
Gene: ENSMUSG00000050812
AA Change: T1029A

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 benign
Transcript: ENSMUST00000107557
SMART Domains Protein: ENSMUSP00000103182
Gene: ENSMUSG00000050812

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 probably benign
Transcript: ENSMUST00000149301
AA Change: T1029A

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000117585
Gene: ENSMUSG00000050812
AA Change: T1029A

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
Meta Mutation Damage Score 0.0755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (88/88)
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,076,113 (GRCm39) H1198Q probably damaging Het
Adamts14 A G 10: 61,043,239 (GRCm39) V743A probably damaging Het
Adgrg6 A G 10: 14,343,095 (GRCm39) V284A possibly damaging Het
Alb A G 5: 90,622,452 (GRCm39) K560R probably damaging Het
Aqp9 A T 9: 71,069,764 (GRCm39) F8L probably benign Het
Arhgef7 T C 8: 11,835,789 (GRCm39) L182P probably damaging Het
Atr A G 9: 95,753,501 (GRCm39) D701G probably damaging Het
Calr3 C T 8: 73,185,339 (GRCm39) D187N probably damaging Het
Ccdc198 A G 14: 49,471,948 (GRCm39) M163T possibly damaging Het
Ccdc65 A G 15: 98,618,977 (GRCm39) T319A probably benign Het
Ccdc66 A T 14: 27,222,290 (GRCm39) L151H probably damaging Het
Ces2e T A 8: 105,657,688 (GRCm39) probably null Het
Cfap46 A G 7: 139,210,492 (GRCm39) probably null Het
Cfap74 A G 4: 155,544,472 (GRCm39) T1034A unknown Het
Cldnd1 T G 16: 58,549,322 (GRCm39) probably null Het
Clec4f C A 6: 83,630,190 (GRCm39) V123L probably benign Het
Cntn6 C T 6: 104,627,491 (GRCm39) T108I probably damaging Het
Crygn T G 5: 24,961,147 (GRCm39) D53A possibly damaging Het
Cyp27a1 T A 1: 74,774,594 (GRCm39) V204E probably damaging Het
Cyp2c67 A T 19: 39,597,708 (GRCm39) probably null Het
Ddb1 T C 19: 10,605,195 (GRCm39) V1061A possibly damaging Het
Dnah12 G T 14: 26,488,534 (GRCm39) probably null Het
Draxin T C 4: 148,197,216 (GRCm39) T194A probably benign Het
Drosha T A 15: 12,846,285 (GRCm39) D473E possibly damaging Het
G6pd2 T A 5: 61,967,562 (GRCm39) C446S probably benign Het
Gm29106 C T 1: 118,104,642 (GRCm39) S3L unknown Het
Grin3a T C 4: 49,702,762 (GRCm39) Y908C probably damaging Het
Ints2 G A 11: 86,108,668 (GRCm39) A893V probably benign Het
Ippk C T 13: 49,602,767 (GRCm39) T371I probably benign Het
Irf2 T A 8: 47,260,316 (GRCm39) C83S probably damaging Het
Jph3 C T 8: 122,480,441 (GRCm39) A373V probably benign Het
Kcnj6 C T 16: 94,634,073 (GRCm39) V13I probably benign Het
Lama3 T C 18: 12,640,097 (GRCm39) probably null Het
Lmo7 A T 14: 102,121,640 (GRCm39) Q235L probably damaging Het
Marchf7 A G 2: 60,071,189 (GRCm39) probably null Het
Mfsd6l A T 11: 68,448,109 (GRCm39) Y320F possibly damaging Het
Mroh1 T A 15: 76,335,676 (GRCm39) W1440R probably benign Het
Mrps17 G A 5: 129,793,863 (GRCm39) G19D probably damaging Het
Myt1 A G 2: 181,444,756 (GRCm39) H566R possibly damaging Het
Nav2 T C 7: 49,201,521 (GRCm39) L176P possibly damaging Het
Nop58 T A 1: 59,737,599 (GRCm39) C139S probably benign Het
Nsd1 A G 13: 55,394,022 (GRCm39) D644G probably damaging Het
Nsd2 T A 5: 34,042,816 (GRCm39) C1027S probably damaging Het
Nsmce2 A G 15: 59,473,265 (GRCm39) I235V probably damaging Het
Nyap2 T C 1: 81,314,230 (GRCm39) V642A possibly damaging Het
Or14n1-ps1 A T 7: 86,092,328 (GRCm39) L46F unknown Het
Or8g51 A G 9: 38,609,161 (GRCm39) V167A probably benign Het
Paqr7 A G 4: 134,234,431 (GRCm39) D96G probably benign Het
Parp4 A G 14: 56,839,852 (GRCm39) Y520C probably damaging Het
Pde5a A G 3: 122,542,107 (GRCm39) N199S probably damaging Het
Piezo1 A T 8: 123,212,463 (GRCm39) Y1955N Het
Pnma8a A G 7: 16,695,315 (GRCm39) K390R probably benign Het
Prdm10 G T 9: 31,227,537 (GRCm39) Q47H probably damaging Het
Psg22 T A 7: 18,453,499 (GRCm39) F104I probably benign Het
Ptprf T C 4: 118,068,322 (GRCm39) E1738G probably damaging Het
Rad21l A T 2: 151,500,365 (GRCm39) L218Q probably damaging Het
Rad54l2 A G 9: 106,583,024 (GRCm39) I798T probably damaging Het
Rgs5 G T 1: 169,483,149 (GRCm39) M1I probably null Het
Rhbdl2 T C 4: 123,711,659 (GRCm39) V132A possibly damaging Het
Rmi1 T A 13: 58,557,393 (GRCm39) Y547* probably null Het
Rptn A T 3: 93,304,212 (GRCm39) D515V probably benign Het
Rsph10b A G 5: 143,898,033 (GRCm39) N505D probably benign Het
Samhd1 T C 2: 156,948,164 (GRCm39) D539G probably damaging Het
Scube3 A T 17: 28,387,156 (GRCm39) I885F probably damaging Het
Sfmbt1 A G 14: 30,506,696 (GRCm39) I247V possibly damaging Het
Slc25a21 T C 12: 56,904,828 (GRCm39) I62V probably benign Het
Slc4a11 T A 2: 130,527,452 (GRCm39) N648Y probably damaging Het
Slc7a11 A G 3: 50,397,448 (GRCm39) V88A possibly damaging Het
Slc7a8 A C 14: 54,964,263 (GRCm39) F397V possibly damaging Het
Sox12 A C 2: 152,239,377 (GRCm39) L81R probably damaging Het
Spg11 T C 2: 121,915,474 (GRCm39) I1057V probably benign Het
St8sia3 G A 18: 64,402,987 (GRCm39) V265I probably benign Het
Stxbp5 A G 10: 9,684,874 (GRCm39) S509P possibly damaging Het
Svep1 T C 4: 58,108,323 (GRCm39) Y1129C probably damaging Het
Tenm4 G T 7: 96,523,333 (GRCm39) R1625L probably benign Het
Tlr4 T C 4: 66,758,191 (GRCm39) F328S possibly damaging Het
Tmprss15 T C 16: 78,868,164 (GRCm39) T215A probably benign Het
Tmprss9 A T 10: 80,718,504 (GRCm39) I62L probably benign Het
Trpm5 C T 7: 142,642,756 (GRCm39) A64T probably benign Het
Txk A C 5: 72,889,109 (GRCm39) Y148* probably null Het
Uba5 C T 9: 103,932,454 (GRCm39) G170R possibly damaging Het
Uggt2 A T 14: 119,323,587 (GRCm39) D231E probably benign Het
Ulk4 A T 9: 121,077,993 (GRCm39) D525E probably benign Het
Vmn1r158 T A 7: 22,489,649 (GRCm39) T187S probably benign Het
Vmn1r52 T A 6: 90,156,605 (GRCm39) M303K probably benign Het
Vmn2r54 A G 7: 12,356,044 (GRCm39) F454S probably benign Het
Zbp1 A T 2: 173,060,546 (GRCm39) L8* probably null Het
Zmym2 A T 14: 57,181,557 (GRCm39) D924V 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
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
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'- TCCAATGCTTTAACTGTCATAGGAC -3'
(R):5'- GGGTGTCTTAAAGTCCTAGGAGAG -3'

Sequencing Primer
(F):5'- GTAAACAGTATACACTGGGAT -3'
(R):5'- ATTGAGGATTTCTTGTCCATTGAC -3'
Posted On 2019-09-13