Mutagenetix > Incidental Mutation

Incidental Mutation 'R8326:Ecpas'

644096

Institutional Source

Beutler Lab

Gene Symbol

Ecpas

Ensembl Gene

ENSMUSG00000050812

Gene Name

Ecm29 proteasome adaptor and scaffold

Synonyms

AI314180

MMRRC Submission

067726-MU

Accession Numbers

Essential gene?

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

Stock #

R8326 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58798911-58912749 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 58847093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 490 (Q490K)

Ref Sequence

ENSEMBL: ENSMUSP00000099953 (fasta)

Gene Model

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

AlphaFold

Q6PDI5

Predicted Effect

probably damaging
Transcript: ENSMUST00000102889
AA Change: Q490K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099953
Gene: ENSMUSG00000050812
AA Change: Q490K

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: Q490K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103182
Gene: ENSMUSG00000050812
AA Change: Q490K

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: ENSMUST00000144512
AA Change: Q490K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118103
Gene: ENSMUSG00000050812
AA Change: Q490K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000149301
AA Change: Q490K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117585
Gene: ENSMUSG00000050812
AA Change: Q490K

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: 99.4%
20x: 98.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,533,190 (GRCm39)	T35A		Het
Adgrv1	C	T	13: 81,593,462 (GRCm39)	R4175H	probably damaging	Het
Akt3	T	C	1: 176,877,611 (GRCm39)	N386D	possibly damaging	Het
Aox1	A	T	1: 58,335,046 (GRCm39)	H282L	probably benign	Het
Asb7	G	T	7: 66,309,675 (GRCm39)	N180K	possibly damaging	Het
Cdh23	T	C	10: 60,274,591 (GRCm39)	S500G	possibly damaging	Het
Cubn	C	T	2: 13,311,274 (GRCm39)	E3084K	probably benign	Het
Cyp2r1	G	A	7: 114,152,405 (GRCm39)	T184I	probably damaging	Het
Dclk3	A	G	9: 111,296,602 (GRCm39)	R49G	probably damaging	Het
Dcp1a	C	T	14: 30,241,527 (GRCm39)	Q446*	probably null	Het
Dnah9	A	G	11: 66,008,452 (GRCm39)	I791T	probably benign	Het
Dock10	A	T	1: 80,583,892 (GRCm39)	V189D	possibly damaging	Het
Dsg4	A	G	18: 20,582,788 (GRCm39)	E142G	probably benign	Het
Dsp	A	T	13: 38,375,611 (GRCm39)	D1132V	probably damaging	Het
Dync2h1	A	G	9: 7,147,771 (GRCm39)	M953T	probably benign	Het
Ero1a	T	C	14: 45,531,805 (GRCm39)	H251R	probably damaging	Het
Fer1l5	A	G	1: 36,415,841 (GRCm39)	Y124C	probably benign	Het
Frmpd2	C	A	14: 33,232,992 (GRCm39)	P404Q	probably damaging	Het
Gpr87	G	T	3: 59,102,395 (GRCm39)		probably benign	Het
Gse1	T	C	8: 121,305,319 (GRCm39)	Y1217H	unknown	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,934,702 (GRCm39)		probably benign	Het
Irf9	T	A	14: 55,843,210 (GRCm39)	D137E	probably benign	Het
Jup	G	T	11: 100,272,571 (GRCm39)	N280K	probably benign	Het
Kcna7	T	C	7: 45,058,765 (GRCm39)	F351L	probably damaging	Het
Klk13	A	T	7: 43,376,136 (GRCm39)	R270S	probably benign	Het
Msh6	C	T	17: 88,294,340 (GRCm39)	R1032C	probably damaging	Het
Myo5a	T	C	9: 75,125,271 (GRCm39)	V1855A	probably damaging	Het
Neb	T	C	2: 52,111,714 (GRCm39)	T138A	probably damaging	Het
Nfkbie	C	A	17: 45,870,234 (GRCm39)	T193K	probably damaging	Het
Nlrp4b	A	G	7: 10,452,471 (GRCm39)	K613E	probably benign	Het
Obox6	T	C	7: 15,567,481 (GRCm39)	E322G	possibly damaging	Het
Or51ai2	A	G	7: 103,586,809 (GRCm39)	D74G	probably damaging	Het
Or5v1b	T	G	17: 37,841,470 (GRCm39)	S201A	probably benign	Het
Or8b36	T	C	9: 37,938,014 (GRCm39)	M304T	probably benign	Het
Parn	A	T	16: 13,483,835 (GRCm39)	N36K	probably benign	Het
Ppp6r2	A	G	15: 89,164,650 (GRCm39)	E618G	probably benign	Het
Prdm13	A	G	4: 21,679,557 (GRCm39)	L311P	unknown	Het
Prkaa2	T	C	4: 104,893,495 (GRCm39)	T485A	possibly damaging	Het
Prmt2	G	T	10: 76,053,247 (GRCm39)	T256K	probably benign	Het
Rspry1	T	C	8: 95,366,217 (GRCm39)	Y362H	probably damaging	Het
Slc16a14	A	T	1: 84,890,066 (GRCm39)	I413N	possibly damaging	Het
Slc8a1	T	C	17: 81,715,535 (GRCm39)	T821A	probably damaging	Het
Spock2	A	T	10: 59,962,777 (GRCm39)	K276N	probably damaging	Het
Synj1	A	T	16: 90,785,084 (GRCm39)	N257K	probably benign	Het
Taar7f	T	C	10: 23,925,811 (GRCm39)	L135P	possibly damaging	Het
Tmem132b	T	C	5: 125,864,618 (GRCm39)	F908S	probably damaging	Het
Tmem202	A	T	9: 59,426,500 (GRCm39)	V222D	probably benign	Het
Trim33	T	A	3: 103,218,770 (GRCm39)	C302*	probably null	Het
Tuba4a	G	A	1: 75,195,265 (GRCm39)	S1L		Het
Tyrp1	G	A	4: 80,768,921 (GRCm39)	E472K	probably benign	Het
V1ra8	A	G	6: 90,180,246 (GRCm39)	I150V	possibly damaging	Het
Vmn2r87	A	T	10: 130,308,180 (GRCm39)	M686K	possibly damaging	Het
Zscan5b	C	T	7: 6,236,946 (GRCm39)	P232S	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
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
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'- CTGAAGGGGTTTACTTTGAATTCC -3'
(R):5'- CCAGCATTTCCTATTCCATCAAAAGAG -3'

Sequencing Primer
(F):5'- AATTTCATAAGCCAACTTTGAAACC -3'
(R):5'- CCTATTCCATCAAAAGAGAGTTCTTG -3'

Posted On

2020-09-02