Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02272:Ecpas'

287192

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ecpas

Ensembl Gene

ENSMUSG00000050812

Gene Name

Ecm29 proteasome adaptor and scaffold

Synonyms

AI314180

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.366) question?

Stock #

IGL02272

Quality Score

Status

Chromosome

Chromosomal Location

58798911-58912749 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58811731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1439 (N1439K)

Ref Sequence

ENSEMBL: ENSMUSP00000099953 (fasta)

Gene Model

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

AlphaFold

Q6PDI5

Predicted Effect

probably benign
Transcript: ENSMUST00000102889
AA Change: N1439K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000099953
Gene: ENSMUSG00000050812
AA Change: N1439K

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
AA Change: N1439K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000117585
Gene: ENSMUSG00000050812
AA Change: N1439K

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,757,021 (GRCm39)	C759*	probably null	Het
Adgrg6	T	A	10: 14,344,573 (GRCm39)	M127L	probably damaging	Het
Anxa9	A	G	3: 95,213,205 (GRCm39)	V47A	probably benign	Het
Arhgef12	T	A	9: 42,912,748 (GRCm39)	D483V	probably damaging	Het
Arrdc3	C	A	13: 81,039,769 (GRCm39)		probably benign	Het
Ccdc169	A	G	3: 55,058,169 (GRCm39)	E67G	probably damaging	Het
Ccdc191	T	A	16: 43,780,385 (GRCm39)	V731D	possibly damaging	Het
Cdh3	G	T	8: 107,274,468 (GRCm39)		probably null	Het
Cntnap1	G	A	11: 101,069,142 (GRCm39)	V199M	probably damaging	Het
Cntnap3	A	T	13: 64,905,225 (GRCm39)	V852E	probably damaging	Het
Csmd1	A	T	8: 16,249,907 (GRCm39)	S1024T	probably damaging	Het
Cyp3a25	T	C	5: 145,930,075 (GRCm39)		probably benign	Het
Dusp6	T	A	10: 99,101,881 (GRCm39)	V289D	probably damaging	Het
Epha6	C	T	16: 59,639,300 (GRCm39)	R858Q	probably damaging	Het
Flrt2	T	A	12: 95,746,478 (GRCm39)	F272Y	probably damaging	Het
Gbf1	T	A	19: 46,258,242 (GRCm39)	W846R	probably damaging	Het
Gtpbp2	T	A	17: 46,475,707 (GRCm39)	V152E	probably benign	Het
Hmces	A	G	6: 87,894,837 (GRCm39)		probably null	Het
Hsph1	A	G	5: 149,540,995 (GRCm39)	S852P	probably benign	Het
Kat6b	A	C	14: 21,676,846 (GRCm39)	K394Q	probably damaging	Het
Kdr	G	A	5: 76,122,500 (GRCm39)	T475I	probably benign	Het
Klhl25	A	G	7: 75,516,368 (GRCm39)	T425A	probably benign	Het
Klk1b8	T	A	7: 43,602,217 (GRCm39)	C50S	probably damaging	Het
Kri1	T	C	9: 21,187,464 (GRCm39)	Y343C	probably damaging	Het
Lamb1	T	C	12: 31,355,768 (GRCm39)	S953P	probably benign	Het
Lpin1	A	G	12: 16,597,601 (GRCm39)	V681A	probably damaging	Het
Lpin3	A	G	2: 160,743,581 (GRCm39)	T508A	probably benign	Het
Moxd1	T	A	10: 24,158,598 (GRCm39)	Y417*	probably null	Het
Mthfd1l	T	G	10: 3,991,812 (GRCm39)	I588S	probably damaging	Het
Myo5c	C	A	9: 75,173,442 (GRCm39)	N543K	possibly damaging	Het
Myo9a	T	A	9: 59,791,883 (GRCm39)		probably benign	Het
Nme8	T	C	13: 19,842,996 (GRCm39)	Y393C	probably damaging	Het
Nr2e1	T	G	10: 42,443,975 (GRCm39)	N249T	probably damaging	Het
Pex11g	A	G	8: 3,515,898 (GRCm39)	V45A	probably benign	Het
Pkhd1	C	A	1: 20,279,484 (GRCm39)	G2945W	probably damaging	Het
Plxnd1	A	G	6: 115,970,589 (GRCm39)	F393S	probably damaging	Het
Ppp3cc	A	G	14: 70,473,938 (GRCm39)	V353A	probably damaging	Het
Prss16	T	A	13: 22,187,205 (GRCm39)	Q455L	probably damaging	Het
Ptpn6	A	T	6: 124,698,171 (GRCm39)	V524E	probably damaging	Het
Rap1gap	A	G	4: 137,443,877 (GRCm39)	Y163C	probably damaging	Het
Rnf31	C	T	14: 55,836,239 (GRCm39)	L598F	probably damaging	Het
Sardh	T	G	2: 27,115,003 (GRCm39)	D550A	probably benign	Het
Serpinc1	T	G	1: 160,827,562 (GRCm39)	I387S	probably damaging	Het
Sh3d19	A	T	3: 86,028,474 (GRCm39)	D650V	probably benign	Het
Sipa1l2	T	A	8: 126,218,750 (GRCm39)	T196S	probably damaging	Het
Slc25a46	T	C	18: 31,716,621 (GRCm39)	T294A	probably benign	Het
Srrm2	T	C	17: 24,034,756 (GRCm39)		probably benign	Het
Steap2	T	A	5: 5,727,612 (GRCm39)	N241I	probably benign	Het
Tcaf3	T	C	6: 42,573,594 (GRCm39)	Y206C	probably damaging	Het
Tmem259	T	A	10: 79,814,297 (GRCm39)	Q322L	probably damaging	Het
Tnni2	C	A	7: 141,997,166 (GRCm39)	Q52K	possibly damaging	Het
Ttn	A	G	2: 76,565,372 (GRCm39)	V28285A	possibly damaging	Het
Uba7	T	A	9: 107,853,352 (GRCm39)	S99R	probably benign	Het
Ubxn2b	A	T	4: 6,216,071 (GRCm39)	K331N	probably damaging	Het
Usp50	G	A	2: 126,611,864 (GRCm39)	T232I	probably damaging	Het
Vmn2r116	G	A	17: 23,604,973 (GRCm39)	M95I	probably benign	Het
Vmn2r116	T	A	17: 23,604,978 (GRCm39)	L97Q	probably damaging	Het
Vmn2r24	A	T	6: 123,763,843 (GRCm39)	N240I	possibly damaging	Het
Vmn2r72	T	C	7: 85,399,901 (GRCm39)	R383G	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
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
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

Posted On

2015-04-16