Mutagenetix > Incidental Mutation

Incidental Mutation 'R6478:Ecpas'

516895

Institutional Source

Beutler Lab

Gene Symbol

Ecpas

Ensembl Gene

ENSMUSG00000050812

Gene Name

Ecm29 proteasome adaptor and scaffold

Synonyms

AI314180

MMRRC Submission

044610-MU

Accession Numbers

Essential gene?

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

Stock #

R6478 (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 58810785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1524 (I1524N)

Ref Sequence

ENSEMBL: ENSMUSP00000099953 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102889] [ENSMUST00000149301]

AlphaFold

Q6PDI5

Predicted Effect

probably damaging
Transcript: ENSMUST00000102889
AA Change: I1524N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099953
Gene: ENSMUSG00000050812
AA Change: I1524N

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

noncoding transcript
Transcript: ENSMUST00000131611

Predicted Effect

probably benign
Transcript: ENSMUST00000149301

SMART Domains

Protein: ENSMUSP00000117585
Gene: ENSMUSG00000050812

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149513

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

Validation Efficiency

95% (75/79)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	A	11: 119,901,817 (GRCm39)	S803C	probably benign	Het
Abcc9	C	T	6: 142,625,034 (GRCm39)	A454T	probably damaging	Het
Abr	T	C	11: 76,343,158 (GRCm39)	E565G	probably damaging	Het
Adam33	C	A	2: 130,893,266 (GRCm39)	R753L	probably benign	Het
Adgre1	A	G	17: 57,708,955 (GRCm39)	T49A	possibly damaging	Het
Ankra2	A	T	13: 98,404,950 (GRCm39)	H153L	probably damaging	Het
Ankrd26	T	G	6: 118,488,599 (GRCm39)	E1353D	probably benign	Het
Ankrd52	T	G	10: 128,215,200 (GRCm39)		probably null	Het
Arhgef10l	T	A	4: 140,270,068 (GRCm39)	T619S	possibly damaging	Het
Armh4	A	G	14: 50,010,789 (GRCm39)	V306A	possibly damaging	Het
Asgr1	T	C	11: 69,947,720 (GRCm39)	V130A	possibly damaging	Het
Atg10	C	A	13: 91,085,466 (GRCm39)	C161F	probably damaging	Het
Atm	A	T	9: 53,401,554 (GRCm39)	N1438K	probably damaging	Het
BC107364	T	A	3: 96,343,322 (GRCm39)		probably null	Het
Bcar3	G	T	3: 122,220,225 (GRCm39)	A41S	probably benign	Het
Btbd6	A	G	12: 112,940,932 (GRCm39)		probably benign	Het
Cchcr1	A	G	17: 35,835,600 (GRCm39)	T318A	possibly damaging	Het
Celsr1	A	T	15: 85,809,719 (GRCm39)	I2221N	probably damaging	Het
Cept1	C	T	3: 106,440,761 (GRCm39)	W48*	probably null	Het
Cfap161	T	A	7: 83,442,484 (GRCm39)	I85L	probably benign	Het
Clasp1	A	T	1: 118,439,910 (GRCm39)	R640*	probably null	Het
Col5a1	T	A	2: 27,842,448 (GRCm39)	I441N	unknown	Het
Col9a1	C	A	1: 24,224,486 (GRCm39)	L223I	unknown	Het
Dnah2	T	C	11: 69,406,836 (GRCm39)	D223G	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dpy19l1	A	T	9: 24,361,992 (GRCm39)	M129K	possibly damaging	Het
Fcgbpl1	C	G	7: 27,854,798 (GRCm39)	P1808R	probably damaging	Het
Fcrl1	C	A	3: 87,296,946 (GRCm39)	H318Q	probably benign	Het
Fer1l5	A	G	1: 36,441,612 (GRCm39)	N609S	probably damaging	Het
Fkbp4	C	T	6: 128,410,194 (GRCm39)	E256K	probably damaging	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Glrx	G	A	13: 75,995,418 (GRCm39)		probably null	Het
Gm7356	A	T	17: 14,221,726 (GRCm39)	M101K	probably damaging	Het
Gstp2	A	T	19: 4,090,499 (GRCm39)	I162N	probably benign	Het
Hectd3	A	C	4: 116,856,783 (GRCm39)	K443N	probably damaging	Het
Hmcn1	T	A	1: 150,540,535 (GRCm39)	R2925W	probably damaging	Het
Hspa1a	G	T	17: 35,189,282 (GRCm39)	N540K	probably damaging	Het
Ints6	A	T	14: 62,938,235 (GRCm39)	M649K	probably benign	Het
Katnb1	T	C	8: 95,822,084 (GRCm39)	V270A	possibly damaging	Het
Kctd3	A	G	1: 188,704,561 (GRCm39)	S737P	probably benign	Het
Klra10	T	C	6: 130,249,507 (GRCm39)		probably null	Het
Lmtk3	A	G	7: 45,448,013 (GRCm39)	D1353G	unknown	Het
Lrrk1	A	G	7: 65,912,481 (GRCm39)	V1693A	probably damaging	Het
Mpnd	A	T	17: 56,316,575 (GRCm39)	I85F	probably damaging	Het
Myo3b	A	G	2: 70,179,304 (GRCm39)	T1173A	probably benign	Het
Myof	G	A	19: 37,892,279 (GRCm39)	P1158L	probably damaging	Het
Naip2	A	C	13: 100,298,549 (GRCm39)	S496A	probably benign	Het
Ncor2	A	G	5: 125,187,069 (GRCm39)		probably benign	Het
Npepps	C	T	11: 97,149,099 (GRCm39)		probably null	Het
Opn5	T	A	17: 42,891,640 (GRCm39)	I266F	probably benign	Het
Or4a74	T	G	2: 89,439,790 (GRCm39)	I219L	probably damaging	Het
P2rx4	A	G	5: 122,845,763 (GRCm39)	D16G	probably damaging	Het
Padi2	G	T	4: 140,644,948 (GRCm39)	V61L	probably benign	Het
Pkd1l1	G	A	11: 8,813,911 (GRCm39)	T1480I	probably benign	Het
Plcb1	T	C	2: 135,177,371 (GRCm39)	S568P	probably damaging	Het
Rassf10	A	G	7: 112,554,914 (GRCm39)	E505G	probably damaging	Het
Rcan2	A	G	17: 44,147,225 (GRCm39)	E21G	probably benign	Het
Rhob	G	T	12: 8,549,585 (GRCm39)	C16*	probably null	Het
Ryr3	T	C	2: 112,490,413 (GRCm39)	N3807S	probably damaging	Het
Sass6	T	A	3: 116,415,046 (GRCm39)	N519K	probably benign	Het
Slco1a8	A	T	6: 141,939,368 (GRCm39)	N208K	possibly damaging	Het
Smad9	A	T	3: 54,689,864 (GRCm39)	D28V	probably damaging	Het
Spmip8	A	T	8: 96,047,894 (GRCm39)		probably null	Het
Tex14	G	T	11: 87,405,199 (GRCm39)	G704C	probably benign	Het
Tmc3	A	G	7: 83,271,524 (GRCm39)	N892S	probably benign	Het
Tnfaip2	T	A	12: 111,412,097 (GRCm39)	L166Q	probably damaging	Het
Triml2	A	G	8: 43,638,165 (GRCm39)		probably null	Het
Trio	A	G	15: 27,856,193 (GRCm39)	V666A	probably benign	Het
Tshz2	G	T	2: 169,726,584 (GRCm39)	L393F	probably damaging	Het
Ttn	T	G	2: 76,672,115 (GRCm39)		probably benign	Het
Tubb5	A	G	17: 36,146,734 (GRCm39)	Y159H	probably damaging	Het
Umodl1	A	G	17: 31,178,129 (GRCm39)	Y35C	probably damaging	Het
Utp4	T	C	8: 107,631,078 (GRCm39)		probably null	Het
Vmn1r60	A	T	7: 5,547,864 (GRCm39)	C79S	probably damaging	Het
Wnt5b	T	C	6: 119,410,751 (GRCm39)	T230A	probably damaging	Het
Zfp618	A	T	4: 63,050,943 (GRCm39)	I575F	probably damaging	Het
Zmym6	G	T	4: 127,017,176 (GRCm39)	V894L	possibly damaging	Het
Zpbp	T	C	11: 11,412,318 (GRCm39)		probably benign	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
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'- AGTCTACAAGAAGCTCCAGGCC -3'
(R):5'- CTCTCCCATTAGCAGGTGGTATG -3'

Sequencing Primer
(F):5'- AGCTCTTCGGCATGAGTTC -3'
(R):5'- CCCATTAGCAGGTGGTATGTTTCTC -3'

Posted On

2018-05-21