Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02828:Ecpas'

361312

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ecpas

Ensembl Gene

ENSMUSG00000050812

Gene Name

Ecm29 proteasome adaptor and scaffold

Synonyms

AI314180

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.352) question?

Stock #

IGL02828

Quality Score

Status

Chromosome

Chromosomal Location

58798911-58912749 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58875512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 151 (S151P)

Ref Sequence

ENSEMBL: ENSMUSP00000103182 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055822] [ENSMUST00000102889] [ENSMUST00000107557] [ENSMUST00000134848] [ENSMUST00000144512] [ENSMUST00000149301]

AlphaFold

Q6PDI5

Predicted Effect

probably benign
Transcript: ENSMUST00000055822
AA Change: S151P

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000061113
Gene: ENSMUSG00000050812
AA Change: S151P

Domain	Start	End	E-Value	Type
Pfam:Ecm29	10	359	2.5e-110	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102889
AA Change: S151P

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099953
Gene: ENSMUSG00000050812
AA Change: S151P

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000107557
AA Change: S151P

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103182
Gene: ENSMUSG00000050812
AA Change: S151P

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000134848
AA Change: S155P

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000114715
Gene: ENSMUSG00000050812
AA Change: S155P

Domain	Start	End	E-Value	Type
Pfam:Ecm29	14	246	1.4e-76	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144512
AA Change: S151P

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118103
Gene: ENSMUSG00000050812
AA Change: S151P

Domain	Start	End	E-Value	Type
Pfam:Ecm29	10	517	2.3e-164	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149301
AA Change: S151P

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000117585
Gene: ENSMUSG00000050812
AA Change: S151P

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	A	11: 109,871,720 (GRCm39)	T86I	probably damaging	Het
Adam28	C	T	14: 68,884,319 (GRCm39)	S93N	possibly damaging	Het
Adamts6	T	C	13: 104,433,978 (GRCm39)	Y136H	probably damaging	Het
Ahdc1	A	T	4: 132,790,232 (GRCm39)	K491I	possibly damaging	Het
Alb	C	A	5: 90,615,247 (GRCm39)	A253E	probably benign	Het
Asb18	A	G	1: 89,923,932 (GRCm39)		probably null	Het
Asxl3	T	A	18: 22,657,718 (GRCm39)	N1909K	possibly damaging	Het
Atosa	G	T	9: 74,913,714 (GRCm39)	A123S	probably damaging	Het
Atp12a	T	A	14: 56,613,599 (GRCm39)	V457D	possibly damaging	Het
Atxn7	G	T	14: 14,090,056 (GRCm38)	G334W	probably damaging	Het
Catsperb	T	A	12: 101,447,041 (GRCm39)	I223K	probably benign	Het
Clec2h	T	A	6: 128,652,885 (GRCm39)	H217Q	probably benign	Het
Col6a3	T	C	1: 90,724,281 (GRCm39)	E1416G	probably damaging	Het
Dcaf1	T	A	9: 106,721,501 (GRCm39)		probably benign	Het
Ddr2	C	T	1: 169,816,082 (GRCm39)	A542T	probably benign	Het
Ebf3	T	C	7: 136,909,247 (GRCm39)	N174S	probably damaging	Het
Ephb2	A	G	4: 136,498,461 (GRCm39)	I206T	probably benign	Het
Fbxo39	T	A	11: 72,208,041 (GRCm39)	I131N	possibly damaging	Het
Fdxacb1	G	A	9: 50,682,864 (GRCm39)	V276I	possibly damaging	Het
Gpr146	A	T	5: 139,378,576 (GRCm39)	Y126F	probably damaging	Het
Hivep3	A	T	4: 119,954,929 (GRCm39)	K1082*	probably null	Het
Ifnar1	T	A	16: 91,302,304 (GRCm39)		probably null	Het
Kap	A	G	6: 133,829,057 (GRCm39)	V25A	probably benign	Het
Klhl2	C	A	8: 65,232,791 (GRCm39)	R162L	probably damaging	Het
Kmt2a	A	G	9: 44,733,244 (GRCm39)		probably benign	Het
Lrp4	A	G	2: 91,305,639 (GRCm39)	N303S	probably benign	Het
Mtpap	A	T	18: 4,386,207 (GRCm39)	N276Y	probably damaging	Het
Nlrp5	G	A	7: 23,120,885 (GRCm39)	G684S	possibly damaging	Het
Or10g3b	T	C	14: 52,586,799 (GRCm39)	R235G	probably benign	Het
Or14a256	A	T	7: 86,265,277 (GRCm39)	V192E	possibly damaging	Het
Pak2	A	T	16: 31,840,674 (GRCm39)	L469H	probably damaging	Het
Pcdhb15	T	A	18: 37,606,903 (GRCm39)	L45Q	probably damaging	Het
Pi4ka	A	T	16: 17,098,575 (GRCm39)		probably benign	Het
Picalm	A	G	7: 89,826,709 (GRCm39)	T386A	probably benign	Het
Pkd1l2	T	C	8: 117,756,298 (GRCm39)	T1645A	probably benign	Het
Plekhm2	A	T	4: 141,356,941 (GRCm39)	V754E	probably damaging	Het
Pramel25	A	T	4: 143,521,695 (GRCm39)	D437V	possibly damaging	Het
Rbl1	T	A	2: 157,041,384 (GRCm39)	E81V	probably damaging	Het
Rbp4	C	A	19: 38,106,717 (GRCm39)		probably null	Het
Rdh12	T	C	12: 79,265,459 (GRCm39)	V211A	probably damaging	Het
Ret	G	A	6: 118,153,168 (GRCm39)	A500V	probably benign	Het
Rin1	T	C	19: 5,103,118 (GRCm39)	F469S	possibly damaging	Het
Rmc1	C	A	18: 12,322,278 (GRCm39)	A577D	possibly damaging	Het
Rsc1a1	G	T	4: 141,411,479 (GRCm39)	P478T	probably damaging	Het
Setd2	A	T	9: 110,390,282 (GRCm39)	Y1579F	probably benign	Het
Sh3bp5	A	T	14: 31,156,106 (GRCm39)		probably benign	Het
Slc22a13	G	T	9: 119,024,773 (GRCm39)	L235I	probably benign	Het
Slc6a11	A	T	6: 114,111,948 (GRCm39)	T172S	possibly damaging	Het
Slitrk1	G	T	14: 109,149,048 (GRCm39)	S554R	possibly damaging	Het
Tg	G	A	15: 66,554,243 (GRCm39)	G553S	probably damaging	Het
Tmem26	G	A	10: 68,611,215 (GRCm39)		probably null	Het
Trpm2	A	T	10: 77,754,820 (GRCm39)	L1222Q	probably benign	Het
Vdac2	T	C	14: 21,893,957 (GRCm39)	V249A	probably benign	Het
Vmn1r170	T	C	7: 23,305,943 (GRCm39)	V115A	probably damaging	Het
Vmn2r105	A	G	17: 20,429,345 (GRCm39)	V577A	possibly damaging	Het
Xpo1	A	G	11: 23,232,593 (GRCm39)	E371G	probably damaging	Het
Zfp106	A	C	2: 120,362,178 (GRCm39)	H980Q	possibly damaging	Het

Other mutations in Ecpas

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2015-12-18