Mutagenetix > Incidental Mutation

Incidental Mutation 'R9721:Ecpas'

730775

Institutional Source

Beutler Lab

Gene Symbol

Ecpas

Ensembl Gene

ENSMUSG00000050812

Gene Name

Ecm29 proteasome adaptor and scaffold

Synonyms

AI314180

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9721 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58798911-58912749 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58850938 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 412 (S412T)

Ref Sequence

ENSEMBL: ENSMUSP00000099953 (fasta)

Gene Model

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

AlphaFold

Q6PDI5

Predicted Effect

probably benign
Transcript: ENSMUST00000102889
AA Change: S412T

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099953
Gene: ENSMUSG00000050812
AA Change: S412T

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: S412T

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103182
Gene: ENSMUSG00000050812
AA Change: S412T

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: ENSMUST00000144512
AA Change: S412T

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000118103
Gene: ENSMUSG00000050812
AA Change: S412T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000149301
AA Change: S412T

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000117585
Gene: ENSMUSG00000050812
AA Change: S412T

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,212,932 (GRCm39)	Y120N	probably benign	Het
AAdacl4fm3	A	T	4: 144,429,942 (GRCm39)	V349D	possibly damaging	Het
Alox8	T	A	11: 69,087,911 (GRCm39)	H131L	probably benign	Het
Atp13a1	A	G	8: 70,252,087 (GRCm39)	E588G	probably damaging	Het
AU040320	G	A	4: 126,733,441 (GRCm39)	V654M	probably damaging	Het
Bicra	A	G	7: 15,713,101 (GRCm39)	L982P	probably damaging	Het
Cdh11	A	T	8: 103,406,257 (GRCm39)	V72E	probably damaging	Het
Cfap65	T	C	1: 74,958,501 (GRCm39)	T869A	probably benign	Het
Cplane1	A	G	15: 8,254,893 (GRCm39)	T27A	unknown	Het
Ddx19a	A	G	8: 111,705,107 (GRCm39)	F338S	probably damaging	Het
Dhrs7c	T	A	11: 67,705,904 (GRCm39)	V219E	probably damaging	Het
Dhx33	A	G	11: 70,892,424 (GRCm39)	V115A	probably damaging	Het
Dst	A	G	1: 34,231,866 (GRCm39)	D3153G	probably benign	Het
Eif5b	T	C	1: 38,076,740 (GRCm39)		probably null	Het
Ep300	A	G	15: 81,492,516 (GRCm39)	N284S	unknown	Het
Fam83a	A	G	15: 57,849,513 (GRCm39)	N19S	probably benign	Het
Fgd5	A	T	6: 91,965,278 (GRCm39)	T504S	probably benign	Het
Flt4	G	A	11: 49,535,260 (GRCm39)		probably null	Het
Ggta1	G	T	2: 35,303,418 (GRCm39)	D91E	probably benign	Het
Gls	A	G	1: 52,251,427 (GRCm39)	V310A	probably damaging	Het
Gm5414	A	T	15: 101,536,582 (GRCm39)	C14*	probably null	Het
Gm9887	C	G	12: 69,418,629 (GRCm39)	A202P	unknown	Het
Ifi214	T	C	1: 173,355,479 (GRCm39)	T110A	possibly damaging	Het
Il4i1	A	G	7: 44,489,113 (GRCm39)	R293G	probably benign	Het
Itpr1	A	T	6: 108,383,063 (GRCm39)	T1464S	probably damaging	Het
Kif18a	T	C	2: 109,123,400 (GRCm39)	S225P	probably damaging	Het
Kif21a	A	T	15: 90,855,330 (GRCm39)	I678N	probably damaging	Het
Klf11	T	A	12: 24,710,240 (GRCm39)	D429E	probably damaging	Het
Kntc1	A	G	5: 123,939,948 (GRCm39)	T1581A	probably benign	Het
Lama2	T	C	10: 27,343,338 (GRCm39)	N45D	possibly damaging	Het
Lrrk1	T	C	7: 65,924,623 (GRCm39)	I1319V	probably damaging	Het
Ltbr	G	A	6: 125,284,348 (GRCm39)	R365W	probably damaging	Het
Malrd1	C	T	2: 15,701,638 (GRCm39)	T751I	unknown	Het
Matcap1	A	T	8: 106,009,820 (GRCm39)	D376E	probably benign	Het
Mgat5b	T	C	11: 116,857,595 (GRCm39)	L363P	probably damaging	Het
Mphosph9	A	T	5: 124,436,738 (GRCm39)	S535R	possibly damaging	Het
Nckap5	C	T	1: 125,955,017 (GRCm39)	D512N	probably damaging	Het
Ngef	T	A	1: 87,406,857 (GRCm39)	D637V	probably damaging	Het
Nup93	T	C	8: 95,030,313 (GRCm39)	Y391H	probably damaging	Het
Or10j7	C	A	1: 173,011,915 (GRCm39)	V29F	probably benign	Het
Or4c110	T	C	2: 88,832,060 (GRCm39)	T191A		Het
Or5b3	A	T	19: 13,388,334 (GRCm39)	T134S	probably benign	Het
Pcdhb4	C	A	18: 37,442,905 (GRCm39)	D738E	possibly damaging	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Phactr3	G	A	2: 177,898,043 (GRCm39)	E86K	probably damaging	Het
Psd	C	T	19: 46,311,628 (GRCm39)	D351N	probably benign	Het
Pzp	A	G	6: 128,472,154 (GRCm39)		probably null	Het
Rerg	T	A	6: 137,033,415 (GRCm39)	K106*	probably null	Het
Samd9l	T	C	6: 3,375,854 (GRCm39)	E469G	possibly damaging	Het
Smok2b	C	A	17: 13,453,865 (GRCm39)	Y8*	probably null	Het
Spata31e3	T	C	13: 50,400,688 (GRCm39)	Y546C	possibly damaging	Het
Spn	A	G	7: 126,735,437 (GRCm39)	S357P	probably benign	Het
Tek	T	G	4: 94,692,539 (GRCm39)	W216G	possibly damaging	Het
Trpm3	A	T	19: 22,866,762 (GRCm39)	H531L	probably benign	Het
Trpm6	A	G	19: 18,807,336 (GRCm39)	M1027V	probably benign	Het
Tsc2	G	A	17: 24,818,616 (GRCm39)	R1408*	probably null	Het
Tut4	T	A	4: 108,412,778 (GRCm39)	M1493K	probably benign	Het
Unc13b	A	G	4: 43,101,869 (GRCm39)	N155D	probably benign	Het
Vmn1r52	G	A	6: 90,156,008 (GRCm39)	C104Y	probably damaging	Het
Xylt1	A	T	7: 117,148,255 (GRCm39)	E273V	probably damaging	Het
Zc3h4	C	A	7: 16,168,770 (GRCm39)	Q1035K	unknown	Het
Zfp14	A	T	7: 29,738,609 (GRCm39)	S125R	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
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
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'- CCATAATGGTGACCTATTTTGACAC -3'
(R):5'- CACTTGTGACCAGTGTATTTGGAG -3'

Sequencing Primer
(F):5'- TGGTGACCTATTTTGACACAATTAAG -3'
(R):5'- ACCAGTGTATTTGGAGTGAATTAAGG -3'

Posted On

2022-10-06