Mutagenetix > Incidental Mutation

Incidental Mutation 'R0487:Ecpas'

42327

Institutional Source

Beutler Lab

Gene Symbol

Ecpas

Ensembl Gene

ENSMUSG00000050812

Gene Name

Ecm29 proteasome adaptor and scaffold

Synonyms

AI314180

MMRRC Submission

038686-MU

Accession Numbers

Essential gene?

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

Stock #

R0487 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58798911-58912749 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58819155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1265 (V1265A)

Ref Sequence

ENSEMBL: ENSMUSP00000117585 (fasta)

Gene Model

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

AlphaFold

Q6PDI5

Predicted Effect

probably damaging
Transcript: ENSMUST00000102889
AA Change: V1265A

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

SMART Domains

Protein: ENSMUSP00000099953
Gene: ENSMUSG00000050812
AA Change: V1265A

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

noncoding transcript
Transcript: ENSMUST00000135601

Predicted Effect

probably damaging
Transcript: ENSMUST00000149301
AA Change: V1265A

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

SMART Domains

Protein: ENSMUSP00000117585
Gene: ENSMUSG00000050812
AA Change: V1265A

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: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,281,687 (GRCm39)	M3190L	probably benign	Het
Adgrv1	A	T	13: 81,637,154 (GRCm39)	L3429H	probably damaging	Het
Ahnak	A	G	19: 8,991,484 (GRCm39)	D4256G	probably damaging	Het
Ahnak	A	G	19: 8,984,515 (GRCm39)	N1933S	probably benign	Het
Amacr	A	G	15: 10,984,835 (GRCm39)	D151G	probably benign	Het
Ano9	A	T	7: 140,687,762 (GRCm39)	H255Q	possibly damaging	Het
Asphd2	A	T	5: 112,539,501 (GRCm39)	Y111N	possibly damaging	Het
Cage1	T	A	13: 38,209,334 (GRCm39)	K214N	probably benign	Het
Cdkn2c	A	G	4: 109,518,606 (GRCm39)	L116P	probably damaging	Het
Cltc	C	T	11: 86,624,490 (GRCm39)	R148H	probably damaging	Het
Cmbl	A	G	15: 31,582,176 (GRCm39)	N58D	probably damaging	Het
Cpa6	T	C	1: 10,479,487 (GRCm39)	T249A	possibly damaging	Het
Cpsf1	T	A	15: 76,481,202 (GRCm39)	N1218I	probably damaging	Het
Csf2rb	T	C	15: 78,232,531 (GRCm39)	S613P	probably benign	Het
Ctnnd1	A	G	2: 84,439,411 (GRCm39)	S761P	probably damaging	Het
Cxcr6	A	C	9: 123,639,463 (GRCm39)	I155L	probably benign	Het
Fam216a	A	G	5: 122,508,576 (GRCm39)		probably null	Het
Fgf10	T	A	13: 118,918,147 (GRCm39)		probably null	Het
Fgf17	T	C	14: 70,875,996 (GRCm39)	T79A	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gm1527	G	T	3: 28,980,828 (GRCm39)	V643L	probably benign	Het
Hmcn2	A	T	2: 31,276,689 (GRCm39)	Q1556L	possibly damaging	Het
Hspa4l	C	T	3: 40,738,758 (GRCm39)	T616I	possibly damaging	Het
Irag2	A	G	6: 145,110,986 (GRCm39)	S264G	probably benign	Het
Irgm1	T	C	11: 48,757,154 (GRCm39)	D219G	probably damaging	Het
Jcad	A	G	18: 4,673,243 (GRCm39)	D335G	probably damaging	Het
Kcnh4	A	G	11: 100,641,084 (GRCm39)	F455S	probably damaging	Het
Khdrbs3	T	C	15: 68,889,210 (GRCm39)	Y120H	probably damaging	Het
Kndc1	A	T	7: 139,493,939 (GRCm39)	T507S	probably null	Het
Lepr	G	T	4: 101,625,290 (GRCm39)	E482*	probably null	Het
Mcemp1	T	A	8: 3,717,507 (GRCm39)	M146K	probably benign	Het
Mllt10	A	G	2: 18,211,948 (GRCm39)	T411A	probably damaging	Het
Myh8	A	T	11: 67,192,837 (GRCm39)	I1543L	probably benign	Het
Myo1f	T	C	17: 33,797,258 (GRCm39)	S147P	probably damaging	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Or5j1	C	T	2: 86,878,837 (GRCm39)	V248I	probably damaging	Het
Plaat1	G	A	16: 29,039,331 (GRCm39)		probably null	Het
Plch2	G	A	4: 155,093,469 (GRCm39)	R57C	probably damaging	Het
Rbm20	G	A	19: 53,839,626 (GRCm39)	G872R	probably damaging	Het
Retsat	A	T	6: 72,583,414 (GRCm39)	I373F	probably damaging	Het
Rnf145	T	C	11: 44,446,056 (GRCm39)	F297L	probably benign	Het
Ros1	A	T	10: 52,031,204 (GRCm39)	M479K	possibly damaging	Het
Rubcnl	T	A	14: 75,273,521 (GRCm39)	N244K	probably benign	Het
Samhd1	A	G	2: 156,952,535 (GRCm39)	F406L	probably damaging	Het
Sdsl	A	T	5: 120,597,533 (GRCm39)	V258D	probably damaging	Het
Sec24c	C	G	14: 20,733,467 (GRCm39)	P166A	probably benign	Het
Sele	C	A	1: 163,881,184 (GRCm39)	Y461*	probably null	Het
Slc22a1	G	T	17: 12,881,487 (GRCm39)	S334*	probably null	Het
Spem1	T	G	11: 69,712,691 (GRCm39)		probably null	Het
Stat3	T	C	11: 100,794,469 (GRCm39)	E280G	probably damaging	Het
Stxbp4	T	C	11: 90,483,186 (GRCm39)	H280R	probably benign	Het
Tas2r129	G	A	6: 132,928,906 (GRCm39)	C281Y	probably benign	Het
Tas2r129	T	G	6: 132,928,907 (GRCm39)	C281W	probably benign	Het
Tcp11	T	A	17: 28,298,897 (GRCm39)		probably null	Het
Tnrc6b	G	A	15: 80,764,876 (GRCm39)	V793M	probably benign	Het
Vmn2r59	A	C	7: 41,696,528 (GRCm39)	Y71*	probably null	Het
Wdr35	T	C	12: 9,062,743 (GRCm39)		probably null	Het
Zan	A	G	5: 137,411,620 (GRCm39)		probably null	Het
Zap70	G	T	1: 36,818,365 (GRCm39)	V351L	probably damaging	Het
Zfp609	G	T	9: 65,609,916 (GRCm39)	Q1016K	unknown	Het
Zfp641	C	A	15: 98,187,060 (GRCm39)	V188L	probably benign	Het
Zpld2	A	T	4: 133,930,089 (GRCm39)	L72Q	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
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
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'- GGCCCTGAAGACATGAGGCATAAC -3'
(R):5'- AGGCCAGCTTCACTAATGTCCCTG -3'

Sequencing Primer
(F):5'- GCCGATGCCAATAGAATAATATGC -3'
(R):5'- ACTAATGTCCCTGCTCTTTGTATG -3'

Posted On

2013-05-23