Incidental Mutation 'R2125:Ecpas'
ID 229740
Institutional Source Beutler Lab
Gene Symbol Ecpas
Ensembl Gene ENSMUSG00000050812
Gene Name Ecm29 proteasome adaptor and scaffold
Synonyms AI314180
MMRRC Submission 040128-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.352) question?
Stock # R2125 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 58798911-58912749 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58833978 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 834 (H834R)
Ref Sequence ENSEMBL: ENSMUSP00000117585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102889] [ENSMUST00000107557] [ENSMUST00000149301]
AlphaFold Q6PDI5
Predicted Effect probably benign
Transcript: ENSMUST00000102889
AA Change: H834R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099953
Gene: ENSMUSG00000050812
AA Change: H834R

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
AA Change: H834R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103182
Gene: ENSMUSG00000050812
AA Change: H834R

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 benign
Transcript: ENSMUST00000149301
AA Change: H834R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117585
Gene: ENSMUSG00000050812
AA Change: H834R

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A G 3: 59,947,066 (GRCm39) T255A possibly damaging Het
Abcb10 A C 8: 124,691,831 (GRCm39) V378G probably benign Het
Ackr2 C T 9: 121,737,852 (GRCm39) R76* probably null Het
Acly T C 11: 100,414,322 (GRCm39) T35A probably benign Het
Acp7 A C 7: 28,328,974 (GRCm39) F69V probably damaging Het
Acsl3 T A 1: 78,659,678 (GRCm39) I110N probably damaging Het
Adam5 C T 8: 25,305,134 (GRCm39) V107M probably damaging Het
Adck2 T C 6: 39,552,076 (GRCm39) V281A probably benign Het
Adgrv1 A G 13: 81,567,654 (GRCm39) V5173A probably benign Het
Adgrv1 A T 13: 81,568,069 (GRCm39) S5035T probably benign Het
Arl10 T A 13: 54,726,937 (GRCm39) probably null Het
B3gnt3 A G 8: 72,146,002 (GRCm39) W176R probably damaging Het
B4galt4 T C 16: 38,586,300 (GRCm39) I3T probably damaging Het
Casr T C 16: 36,315,614 (GRCm39) I819V possibly damaging Het
Cdh1 T C 8: 107,383,472 (GRCm39) V237A probably damaging Het
Col22a1 G A 15: 71,720,426 (GRCm39) R605C unknown Het
Crlf3 A G 11: 79,950,081 (GRCm39) V183A probably benign Het
Crtac1 C A 19: 42,312,171 (GRCm39) V181L probably damaging Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dnah12 A T 14: 26,445,613 (GRCm39) R725* probably null Het
Dnhd1 A T 7: 105,327,178 (GRCm39) H709L probably benign Het
Dop1a A G 9: 86,403,099 (GRCm39) Y1431C probably damaging Het
Eif2ak4 A T 2: 118,252,604 (GRCm39) H392L probably benign Het
Entpd3 T C 9: 120,384,720 (GRCm39) I99T probably damaging Het
Epha6 T C 16: 59,503,051 (GRCm39) D952G probably damaging Het
Exoc6 T C 19: 37,579,389 (GRCm39) L429P probably damaging Het
F13a1 A G 13: 37,076,815 (GRCm39) S625P probably benign Het
Fcgbpl1 A T 7: 27,857,447 (GRCm39) Y2265F probably benign Het
Fcho2 T C 13: 98,912,406 (GRCm39) N240S possibly damaging Het
Fcrl6 C T 1: 172,426,815 (GRCm39) V44M probably benign Het
Fmo6 A T 1: 162,757,527 (GRCm39) M82K possibly damaging Het
Gabrr2 T G 4: 33,095,548 (GRCm39) I479R probably damaging Het
Gnl2 T A 4: 124,947,278 (GRCm39) F633L probably benign Het
Greb1l C T 18: 10,511,422 (GRCm39) S648F probably damaging Het
Gsap T A 5: 21,447,811 (GRCm39) C290S probably damaging Het
Gusb A G 5: 130,028,288 (GRCm39) V268A probably benign Het
H2-D1 G A 17: 35,483,091 (GRCm39) probably null Het
Hebp2 T A 10: 18,417,008 (GRCm39) E164D probably benign Het
Higd1a A T 9: 121,679,313 (GRCm39) I58N probably damaging Het
Hoxc13 G T 15: 102,835,658 (GRCm39) R262L probably damaging Het
Ifih1 A G 2: 62,453,811 (GRCm39) V218A probably benign Het
Impg2 T A 16: 56,085,427 (GRCm39) Y1045N probably damaging Het
Kcnk1 A G 8: 126,722,395 (GRCm39) E66G probably damaging Het
Klkb1 A G 8: 45,728,541 (GRCm39) V406A possibly damaging Het
Klra10 G A 6: 130,256,241 (GRCm39) R138W probably damaging Het
Lama2 A C 10: 26,920,449 (GRCm39) Y193* probably null Het
Larp7 T C 3: 127,336,779 (GRCm39) T428A probably benign Het
Lipg T C 18: 75,078,956 (GRCm39) N432S probably benign Het
Loxl1 T C 9: 58,200,995 (GRCm39) D489G probably damaging Het
Lrguk A G 6: 34,069,837 (GRCm39) K571E probably benign Het
Map3k13 C T 16: 21,710,894 (GRCm39) T59I probably benign Het
Mertk T A 2: 128,604,058 (GRCm39) D397E probably benign Het
Mgat3 G A 15: 80,096,087 (GRCm39) V305I probably benign Het
Mrtfb T C 16: 13,218,668 (GRCm39) V449A possibly damaging Het
Mybpc1 G A 10: 88,409,299 (GRCm39) Q66* probably null Het
Myo3a A G 2: 22,468,186 (GRCm39) D480G probably benign Het
Ndufaf3 C T 9: 108,443,936 (GRCm39) R31Q probably benign Het
Neb T C 2: 52,200,650 (GRCm39) Y343C probably damaging Het
Nrxn3 A G 12: 89,227,290 (GRCm39) probably null Het
Or4c10b A G 2: 89,711,982 (GRCm39) M271V probably benign Het
Or8k40 A T 2: 86,584,796 (GRCm39) N95K probably benign Het
Pcsk4 T C 10: 80,159,713 (GRCm39) M379V probably benign Het
Pdzd2 A T 15: 12,373,676 (GRCm39) V2153E probably benign Het
Pkd2l1 T C 19: 44,142,939 (GRCm39) D427G possibly damaging Het
Plcd4 A G 1: 74,604,311 (GRCm39) Y763C probably damaging Het
Plekhh1 T C 12: 79,125,774 (GRCm39) F1270S probably damaging Het
Pmfbp1 T C 8: 110,246,905 (GRCm39) V259A probably damaging Het
Ptprg T C 14: 12,179,283 (GRCm38) S767P possibly damaging Het
Rabl3 T G 16: 37,377,175 (GRCm39) probably null Het
Rffl T A 11: 82,709,264 (GRCm39) H53L probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rtl1 C T 12: 109,560,355 (GRCm39) V495I possibly damaging Het
Scaf11 A T 15: 96,317,196 (GRCm39) D789E possibly damaging Het
Scn2a T A 2: 65,582,423 (GRCm39) Y1590* probably null Het
Siglech T A 7: 55,421,434 (GRCm39) F190I probably benign Het
Slc22a22 C A 15: 57,117,636 (GRCm39) A302S probably damaging Het
Slc46a3 T A 5: 147,815,954 (GRCm39) T458S probably benign Het
Spta1 G T 1: 174,035,910 (GRCm39) R1072L possibly damaging Het
Tbx5 A G 5: 119,974,988 (GRCm39) T4A probably benign Het
Tdrd5 T C 1: 156,104,143 (GRCm39) R528G probably damaging Het
Tfip11 T C 5: 112,483,529 (GRCm39) V648A possibly damaging Het
Thumpd3 T C 6: 113,043,749 (GRCm39) V388A probably benign Het
Tmem131l C T 3: 83,850,058 (GRCm39) probably null Het
Ttf2 C A 3: 100,855,509 (GRCm39) Q895H possibly damaging Het
Ttn A T 2: 76,720,436 (GRCm39) probably null Het
Vmn2r13 A G 5: 109,306,058 (GRCm39) S507P probably benign Het
Vtn A G 11: 78,391,049 (GRCm39) T210A probably damaging Het
Zfp1010 C A 2: 176,957,195 (GRCm39) C101F probably damaging Het
Znhit2 A G 19: 6,112,091 (GRCm39) T279A 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
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'- TACTCTAGCTGCAGTGTGCC -3'
(R):5'- AGACCTTGATTTTCTGATGCTGC -3'

Sequencing Primer
(F):5'- CAGTGTGCCTGGATGGATATAG -3'
(R):5'- GTACATCACCTCTGTTAGC -3'
Posted On 2014-09-17