Incidental Mutation 'R4726:Ecpas'
ID 358448
Institutional Source Beutler Lab
Gene Symbol Ecpas
Ensembl Gene ENSMUSG00000050812
Gene Name Ecm29 proteasome adaptor and scaffold
Synonyms AI314180
MMRRC Submission 041989-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.352) question?
Stock # R4726 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 58798911-58912749 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58844191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 525 (V525A)
Ref Sequence ENSEMBL: ENSMUSP00000117585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102889] [ENSMUST00000107557] [ENSMUST00000144512] [ENSMUST00000149301]
AlphaFold Q6PDI5
Predicted Effect probably damaging
Transcript: ENSMUST00000102889
AA Change: V525A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099953
Gene: ENSMUSG00000050812
AA Change: V525A

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: V525A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103182
Gene: ENSMUSG00000050812
AA Change: V525A

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 probably damaging
Transcript: ENSMUST00000144512
AA Change: V525A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000118103
Gene: ENSMUSG00000050812
AA Change: V525A

DomainStartEndE-ValueType
Pfam:Ecm29 10 517 2.3e-164 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000149301
AA Change: V525A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117585
Gene: ENSMUSG00000050812
AA Change: V525A

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 0.2632 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 99% (74/75)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930583I09Rik T C 17: 65,141,448 (GRCm39) S52G probably null Het
Abcc2 T C 19: 43,820,553 (GRCm39) S1351P probably benign Het
Acp2 T A 2: 91,034,622 (GRCm39) L87Q probably damaging Het
Adgrl3 C A 5: 81,794,425 (GRCm39) T550K possibly damaging Het
Amotl2 A G 9: 102,601,018 (GRCm39) R329G probably benign Het
Angel1 T C 12: 86,768,649 (GRCm39) N278S probably damaging Het
Ankrd12 A C 17: 66,277,319 (GRCm39) M1985R probably damaging Het
Apob T A 12: 8,040,267 (GRCm39) F535I probably damaging Het
Art3 A G 5: 92,559,002 (GRCm39) K313R probably benign Het
Asxl2 C T 12: 3,551,872 (GRCm39) H1205Y possibly damaging Het
Bsph1 A T 7: 13,206,920 (GRCm39) M99L probably benign Het
Ccdc153 T C 9: 44,154,963 (GRCm39) probably null Het
Cdh16 A T 8: 105,342,664 (GRCm39) M28K probably damaging Het
Cdhr2 T C 13: 54,866,352 (GRCm39) F353L probably damaging Het
Chrna2 G T 14: 66,386,345 (GRCm39) V164L possibly damaging Het
Cip2a A G 16: 48,834,433 (GRCm39) T672A probably benign Het
Ckmt1 T C 2: 121,191,712 (GRCm39) probably null Het
Col25a1 A T 3: 130,313,430 (GRCm39) E280V possibly damaging Het
Dnajc12 A G 10: 63,233,087 (GRCm39) D76G probably damaging Het
Drd3 G T 16: 43,643,164 (GRCm39) E467* probably null Het
Ehbp1l1 C A 19: 5,769,204 (GRCm39) A700S possibly damaging Het
Gab1 T C 8: 81,515,682 (GRCm39) D212G possibly damaging Het
Gm26996 A G 6: 130,557,134 (GRCm39) noncoding transcript Het
Gm28113 A G 15: 75,198,577 (GRCm39) noncoding transcript Het
Has3 T C 8: 107,604,718 (GRCm39) F308S probably damaging Het
Ifit3b T A 19: 34,588,860 (GRCm39) I12N probably benign Het
Ifna4 C A 4: 88,760,519 (GRCm39) T141K probably benign Het
Ints3 A G 3: 90,301,084 (GRCm39) S840P probably damaging Het
Itih4 T C 14: 30,611,792 (GRCm39) V132A probably damaging Het
Itprid2 T A 2: 79,493,101 (GRCm39) I1216N probably damaging Het
Kcnj10 A G 1: 172,196,639 (GRCm39) Y51C probably damaging Het
Klk1b24 G A 7: 43,839,820 (GRCm39) V60I probably damaging Het
Klra14-ps C A 6: 130,134,626 (GRCm39) noncoding transcript Het
Krt6b A G 15: 101,586,520 (GRCm39) I323T probably damaging Het
Lilra5 A C 7: 4,240,957 (GRCm39) Q17P probably benign Het
Lrrc7 GAAGTTGTTTGGAGATTCTTATCTTA GA 3: 158,024,045 (GRCm39) probably benign Het
Map3k4 T C 17: 12,451,851 (GRCm39) N1479S possibly damaging Het
Mbd3l2 A T 9: 18,356,256 (GRCm39) I194F probably damaging Het
Megf10 T C 18: 57,420,864 (GRCm39) I834T probably benign Het
Mterf4 G A 1: 93,229,471 (GRCm39) T251M probably damaging Het
Mtmr3 A T 11: 4,457,634 (GRCm39) D170E probably damaging Het
Myom3 C T 4: 135,534,586 (GRCm39) probably null Het
Nemp1 G A 10: 127,530,462 (GRCm39) V305I probably benign Het
Nlrp1b G T 11: 71,072,232 (GRCm39) T537K probably benign Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Or5b3 T A 19: 13,388,469 (GRCm39) C179S probably damaging Het
Or6c206 A G 10: 129,097,045 (GRCm39) T72A possibly damaging Het
Or8k28 A G 2: 86,286,580 (GRCm39) F12L possibly damaging Het
Pias1 A G 9: 62,827,771 (GRCm39) V212A probably damaging Het
Plscr1 T A 9: 92,145,221 (GRCm39) V77D probably damaging Het
Plxna1 T C 6: 89,299,798 (GRCm39) N1657S probably damaging Het
Ptprf A G 4: 118,069,414 (GRCm39) V1551A possibly damaging Het
Ptprn2 C A 12: 117,211,393 (GRCm39) Y857* probably null Het
Puf60 A T 15: 75,944,183 (GRCm39) probably null Het
Rnf20 C T 4: 49,654,579 (GRCm39) R879* probably null Het
Robo1 G A 16: 72,768,931 (GRCm39) A499T probably damaging Het
Slc39a14 A G 14: 70,551,048 (GRCm39) probably null Het
Smarcad1 A T 6: 65,052,025 (GRCm39) H6L probably damaging Het
Smg5 A G 3: 88,243,758 (GRCm39) S10G possibly damaging Het
Stk39 T A 2: 68,093,647 (GRCm39) D488V probably damaging Het
Stx19 A G 16: 62,642,495 (GRCm39) N104D probably benign Het
Tcstv1b A T 13: 120,635,173 (GRCm39) S152C possibly damaging Het
Tmem222 T C 4: 133,004,975 (GRCm39) M21V probably benign Het
Trim43b T A 9: 88,971,538 (GRCm39) N205I possibly damaging Het
Ubr4 C A 4: 139,209,890 (GRCm39) H5017N possibly damaging Het
Vmn2r93 A G 17: 18,536,960 (GRCm39) T548A probably damaging Het
Vps8 G A 16: 21,267,154 (GRCm39) probably null Het
Wasl A G 6: 24,633,110 (GRCm39) V176A probably benign Het
Wbp2nl T A 15: 82,190,255 (GRCm39) V61E probably damaging Het
Zfp959 T A 17: 56,205,260 (GRCm39) probably null Het
Zmiz1 T C 14: 25,644,098 (GRCm39) probably null 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
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'- GACACCTGGTACCCTTAAGAAC -3'
(R):5'- TGCAAGCCAAGTGACTCAGC -3'

Sequencing Primer
(F):5'- CTTTGGAAAAGCAAATTAACTGCATG -3'
(R):5'- AGTGACTCAGCAGATATCACTG -3'
Posted On 2015-11-11