Mutagenetix > Incidental Mutation

Incidental Mutation 'R2266:Ecpas'

242016

Institutional Source

Beutler Lab

Gene Symbol

Ecpas

Ensembl Gene

ENSMUSG00000050812

Gene Name

Ecm29 proteasome adaptor and scaffold

Synonyms

AI314180

MMRRC Submission

040266-MU

Accession Numbers

Essential gene?

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

Stock #

R2266 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58798911-58912749 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 58830332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117585 (fasta)

Gene Model

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

AlphaFold

Q6PDI5

Predicted Effect

probably null
Transcript: ENSMUST00000102889

SMART Domains

Protein: ENSMUSP00000099953
Gene: ENSMUSG00000050812

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 benign
Transcript: ENSMUST00000107557

SMART Domains

Protein: ENSMUSP00000103182
Gene: ENSMUSG00000050812

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

noncoding transcript
Transcript: ENSMUST00000135601

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142102

Predicted Effect

probably null
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

probably null
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

Meta Mutation Damage Score

0.9593

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	T	A	3: 59,944,737 (GRCm39)	D136E	probably damaging	Het
Agrn	C	T	4: 156,263,675 (GRCm39)	G173R	probably damaging	Het
Apob	T	C	12: 8,065,475 (GRCm39)	F4115S	possibly damaging	Het
Bsn	T	A	9: 107,992,323 (GRCm39)	D1143V	probably damaging	Het
Cacna2d2	T	C	9: 107,390,479 (GRCm39)	V317A	probably damaging	Het
Cdh1	G	A	8: 107,388,635 (GRCm39)	V564I	probably benign	Het
Cep250	T	C	2: 155,818,090 (GRCm39)	V814A	probably benign	Het
Ces2a	A	T	8: 105,466,822 (GRCm39)	I65F	probably benign	Het
Commd8	A	G	5: 72,322,765 (GRCm39)	W51R	probably damaging	Het
Cyb561d1	A	T	3: 108,106,720 (GRCm39)	H166Q	probably damaging	Het
Dcun1d4	T	A	5: 73,638,618 (GRCm39)		probably benign	Het
Dgkd	A	G	1: 87,855,540 (GRCm39)		probably benign	Het
Dipk2b	A	G	X: 18,289,926 (GRCm39)	S179P	possibly damaging	Het
Dnajc28	T	C	16: 91,413,200 (GRCm39)	N372S	probably benign	Het
Eid1	A	G	2: 125,515,344 (GRCm39)	D78G	possibly damaging	Het
Emid1	T	A	11: 5,094,331 (GRCm39)	Q60L	probably damaging	Het
Fam135a	A	T	1: 24,067,878 (GRCm39)	V801E	probably benign	Het
Foxh1	A	G	15: 76,552,820 (GRCm39)	V298A	probably benign	Het
Foxn4	T	C	5: 114,393,662 (GRCm39)	T486A	probably damaging	Het
Gpc6	A	T	14: 118,125,932 (GRCm39)		probably null	Het
Grid2ip	C	T	5: 143,371,847 (GRCm39)	P690L	probably benign	Het
H2bc9	T	C	13: 23,727,162 (GRCm39)	K121E	possibly damaging	Het
Hdhd2	C	T	18: 77,052,866 (GRCm39)	T172M	probably benign	Het
Hr	A	T	14: 70,795,547 (GRCm39)	D393V	probably benign	Het
Ido2	T	C	8: 25,025,268 (GRCm39)	Y253C	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klra10	A	G	6: 130,246,264 (GRCm39)	V237A	probably benign	Het
Klre1	A	G	6: 129,562,593 (GRCm39)	K206R	probably benign	Het
Lama2	T	C	10: 26,862,793 (GRCm39)	D2990G	probably benign	Het
Magi3	G	A	3: 103,928,382 (GRCm39)		probably benign	Het
Mamdc2	A	T	19: 23,281,267 (GRCm39)		probably benign	Het
Med23	T	G	10: 24,750,499 (GRCm39)	S109A	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mtss2	A	G	8: 111,455,362 (GRCm39)	K92E	possibly damaging	Het
Mybphl	A	G	3: 108,272,317 (GRCm39)	E2G	probably damaging	Het
Naip6	A	G	13: 100,420,067 (GRCm39)	V1401A	possibly damaging	Het
Ncapg2	A	G	12: 116,393,296 (GRCm39)	E500G	probably damaging	Het
Nlrp12	T	C	7: 3,282,575 (GRCm39)	I775V	probably benign	Het
Nr4a2	T	A	2: 57,002,018 (GRCm39)	D145V	possibly damaging	Het
Ntmt1	C	A	2: 30,710,472 (GRCm39)	N58K	probably benign	Het
P2ry13	T	C	3: 59,117,449 (GRCm39)	M110V	probably damaging	Het
P2ry14	T	C	3: 59,022,992 (GRCm39)	N165S	probably damaging	Het
Plch2	T	C	4: 155,077,461 (GRCm39)	E423G	probably benign	Het
Polq	C	A	16: 36,882,515 (GRCm39)	Q1560K	possibly damaging	Het
Prrc1	G	T	18: 57,514,718 (GRCm39)	D312Y	probably damaging	Het
Ptprm	A	T	17: 67,032,846 (GRCm39)		probably null	Het
Ripk2	A	T	4: 16,152,011 (GRCm39)	S183T	possibly damaging	Het
Robo1	T	A	16: 72,775,660 (GRCm39)	F728L	probably benign	Het
Rttn	A	G	18: 89,082,295 (GRCm39)	N1407S	probably benign	Het
Sec14l1	A	T	11: 117,047,314 (GRCm39)	H664L	probably damaging	Het
Slc10a7	G	A	8: 79,236,264 (GRCm39)	G21S	probably benign	Het
Slc35a3	T	C	3: 116,467,285 (GRCm39)	K325E	possibly damaging	Het
Spag17	C	A	3: 99,969,182 (GRCm39)		probably null	Het
Spesp1	A	T	9: 62,180,834 (GRCm39)	L25M	probably damaging	Het
St6galnac1	G	A	11: 116,658,673 (GRCm39)	Q264*	probably null	Het
Tbc1d14	A	G	5: 36,700,561 (GRCm39)	L269P	possibly damaging	Het
Tgfbr3l	A	G	8: 4,300,506 (GRCm39)	E228G	probably benign	Het
Tlr5	T	A	1: 182,802,600 (GRCm39)	S635T	possibly damaging	Het
Tmem233	G	C	5: 116,189,517 (GRCm39)		probably benign	Het
Tnfsf13b	A	T	8: 10,057,306 (GRCm39)	R125S	probably benign	Het
Tymp	A	T	15: 89,258,011 (GRCm39)	V378D	probably damaging	Het
Vmn1r38	G	T	6: 66,753,433 (GRCm39)	Q228K	probably benign	Het
Vmn2r18	T	C	5: 151,510,127 (GRCm39)	E82G	probably damaging	Het
Vps13c	T	C	9: 67,828,229 (GRCm39)	V1461A	possibly damaging	Het
Xrn1	A	G	9: 95,888,765 (GRCm39)	D948G	possibly damaging	Het
Zfp280d	C	A	9: 72,209,052 (GRCm39)		probably benign	Het
Zfp418	G	A	7: 7,185,807 (GRCm39)	R590K	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
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'- TTCCAGGACTAGCAGAGGAC -3'
(R):5'- TAAAGCCTGCTGAGAGGTCAAG -3'

Sequencing Primer
(F):5'- CCTCCTGAATGCTAGGATTAAAGGC -3'
(R):5'- GAGGTCAAGCAGCTCTTTTATAG -3'

Posted On

2014-10-16