Mutagenetix > Incidental Mutation

Incidental Mutation 'R9208:Ecpas'

698620

Institutional Source

Beutler Lab

Gene Symbol

Ecpas

Ensembl Gene

ENSMUSG00000050812

Gene Name

Ecm29 proteasome adaptor and scaffold

Synonyms

AI314180

MMRRC Submission

068982-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.366) question?

Stock #

R9208 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58798911-58912749 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58875444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 173 (D173E)

Ref Sequence

ENSEMBL: ENSMUSP00000099953 (fasta)

Gene Model

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

AlphaFold

Q6PDI5

Predicted Effect

probably damaging
Transcript: ENSMUST00000055822
AA Change: D173E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000061113
Gene: ENSMUSG00000050812
AA Change: D173E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000102889
AA Change: D173E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099953
Gene: ENSMUSG00000050812
AA Change: D173E

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

probably damaging
Transcript: ENSMUST00000107557
AA Change: D173E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103182
Gene: ENSMUSG00000050812
AA Change: D173E

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 damaging
Transcript: ENSMUST00000134848
AA Change: D177E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114715
Gene: ENSMUSG00000050812
AA Change: D177E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000144512
AA Change: D173E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118103
Gene: ENSMUSG00000050812
AA Change: D173E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000149301
AA Change: D173E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117585
Gene: ENSMUSG00000050812
AA Change: D173E

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot6	T	A	12: 84,153,358 (GRCm39)	L200Q	possibly damaging	Het
Apbb1	A	G	7: 105,208,727 (GRCm39)	S569P	probably damaging	Het
Atl3	A	G	19: 7,487,447 (GRCm39)	I121V	probably benign	Het
C87436	A	G	6: 86,423,227 (GRCm39)	D267G	probably benign	Het
Ccdc7a	T	A	8: 129,472,482 (GRCm39)	I1617F	possibly damaging	Het
Cic	T	C	7: 24,987,502 (GRCm39)	F1397L	probably benign	Het
Cln6	T	A	9: 62,756,465 (GRCm39)	M203K	probably benign	Het
Clock	A	G	5: 76,384,871 (GRCm39)	S449P	probably benign	Het
Cse1l	C	A	2: 166,783,185 (GRCm39)	N743K	probably damaging	Het
Cyp1a2	A	G	9: 57,589,583 (GRCm39)	I77T	probably damaging	Het
D6Wsu163e	A	G	6: 126,943,932 (GRCm39)	I443V	probably benign	Het
Dctn1	T	C	6: 83,176,684 (GRCm39)	V1246A	probably benign	Het
Dennd5b	T	C	6: 149,002,698 (GRCm39)	E37G	probably benign	Het
Dnah11	C	T	12: 117,991,251 (GRCm39)	E2372K	probably damaging	Het
Ercc5	T	C	1: 44,217,503 (GRCm39)	W949R	possibly damaging	Het
Fam13c	A	G	10: 70,388,869 (GRCm39)	E465G	probably damaging	Het
Fam83d	T	A	2: 158,610,466 (GRCm39)	C145S	probably damaging	Het
Fbln7	T	A	2: 128,737,343 (GRCm39)	V386E	probably damaging	Het
Fpr3	A	T	17: 18,191,131 (GRCm39)	Q134L	probably damaging	Het
Gm3636	T	A	14: 17,955,001 (GRCm39)	R5S	possibly damaging	Het
Gna15	A	G	10: 81,345,224 (GRCm39)	S214P	probably benign	Het
Hdac9	A	G	12: 34,220,101 (GRCm39)	M897T	probably benign	Het
Hdc	T	C	2: 126,436,600 (GRCm39)	N424D	probably benign	Het
Krtap27-1	A	G	16: 88,468,316 (GRCm39)	V76A	possibly damaging	Het
Lrrd1	T	A	5: 3,900,995 (GRCm39)	H433Q	probably damaging	Het
Ltn1	T	C	16: 87,197,298 (GRCm39)	D1180G	probably benign	Het
Macf1	A	G	4: 123,577,925 (GRCm39)	C20R	unknown	Het
Mphosph9	T	C	5: 124,450,854 (GRCm39)	N306D	probably damaging	Het
Mpp7	T	C	18: 7,403,327 (GRCm39)	R328G	probably benign	Het
Mslnl	C	T	17: 25,961,694 (GRCm39)	P117S	possibly damaging	Het
Muc16	T	A	9: 18,419,833 (GRCm39)	K117M	probably damaging	Het
Mycbp2	T	C	14: 103,532,664 (GRCm39)	N430S	probably benign	Het
Myl1	T	C	1: 66,973,683 (GRCm39)	I8V	probably benign	Het
Ncdn	A	T	4: 126,644,041 (GRCm39)	D260E	probably benign	Het
Nkx3-2	T	A	5: 41,919,114 (GRCm39)	R291S	probably damaging	Het
Nr4a2	A	G	2: 56,999,093 (GRCm39)	V448A	probably damaging	Het
Nrip1	T	C	16: 76,089,616 (GRCm39)	E647G	possibly damaging	Het
Or4c12	C	A	2: 89,773,725 (GRCm39)	V245L	possibly damaging	Het
Or52a5b	A	G	7: 103,417,478 (GRCm39)	I42T	probably benign	Het
Or8c14-ps1	T	C	9: 38,101,120 (GRCm39)	M33T	possibly damaging	Het
Or8s10	C	A	15: 98,335,614 (GRCm39)	A88E	probably benign	Het
Patj	A	T	4: 98,427,310 (GRCm39)	I172F	unknown	Het
Per1	T	C	11: 68,995,636 (GRCm39)	S739P	possibly damaging	Het
Plekhn1	A	C	4: 156,306,859 (GRCm39)	V510G	possibly damaging	Het
Plxna4	A	T	6: 32,494,379 (GRCm39)	V79D	probably damaging	Het
Pram1	A	G	17: 33,859,801 (GRCm39)	T123A	probably benign	Het
Ptpn23	C	A	9: 110,237,101 (GRCm39)		probably null	Het
Rcbtb2	C	T	14: 73,414,500 (GRCm39)	S437L	probably damaging	Het
Resf1	C	T	6: 149,228,027 (GRCm39)	L358F	probably damaging	Het
Rxfp4	T	A	3: 88,559,390 (GRCm39)	R354*	probably null	Het
Serpinb5	A	G	1: 106,803,853 (GRCm39)	T180A	probably damaging	Het
Slc7a14	T	A	3: 31,281,359 (GRCm39)	D317V	probably damaging	Het
Slco5a1	A	G	1: 13,059,802 (GRCm39)		probably null	Het
Snx14	T	A	9: 88,265,832 (GRCm39)	T768S	probably benign	Het
Sorbs1	T	A	19: 40,353,462 (GRCm39)		probably benign	Het
Stambp	C	T	6: 83,528,954 (GRCm39)	A364T	probably damaging	Het
Tgm3	T	A	2: 129,865,618 (GRCm39)	I6N	possibly damaging	Het
Tmem106b	A	T	6: 13,082,430 (GRCm39)	T202S	probably damaging	Het
Tnfsf8	A	G	4: 63,752,450 (GRCm39)	V205A	probably benign	Het
Treml2	A	T	17: 48,614,922 (GRCm39)	R136*	probably null	Het
Trim46	T	C	3: 89,142,466 (GRCm39)	T674A	possibly damaging	Het
Trmt13	T	A	3: 116,376,356 (GRCm39)	Y345F	possibly damaging	Het
Tspyl4	A	G	10: 34,173,568 (GRCm39)	H20R	probably benign	Het
Uvssa	T	C	5: 33,571,419 (GRCm39)		probably null	Het
Vmn1r192	A	T	13: 22,371,401 (GRCm39)	F273Y	probably damaging	Het
Vmn2r45	A	T	7: 8,486,298 (GRCm39)	I330N	probably damaging	Het
Zfp40	A	G	17: 23,394,551 (GRCm39)	F679L	probably 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
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
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
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'- GCCAATATGTAGCAGAGCTGGAC -3'
(R):5'- ACTCCCTAAATTAAGACTTTGTCCC -3'

Sequencing Primer
(F):5'- TAGCAGAGCTGGACTTTAGC -3'
(R):5'- AGCTCCTGATATAATTGCCAATTTG -3'

Posted On

2022-02-07