Mutagenetix > Incidental Mutation

Incidental Mutation 'R1529:Ecpas'

166440

Institutional Source

Beutler Lab

Gene Symbol

Ecpas

Ensembl Gene

ENSMUSG00000050812

Gene Name

Ecm29 proteasome adaptor and scaffold

Synonyms

AI314180

Accession Numbers

Essential gene?

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

Stock #

R1529 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58798911-58912749 bp(-) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to C at 58832701 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

silent
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151869

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	C	3: 59,768,533 (GRCm39)	I21T	probably benign	Het
Adam11	T	C	11: 102,665,939 (GRCm39)		probably null	Het
Amd1	A	T	10: 40,166,501 (GRCm39)	M194K	probably benign	Het
Ap1b1	T	G	11: 4,989,547 (GRCm39)	F793C	probably damaging	Het
Arfgef3	G	A	10: 18,488,970 (GRCm39)	R1292*	probably null	Het
Arhgef5	C	A	6: 43,256,449 (GRCm39)	H1186N	probably damaging	Het
Atad1	A	G	19: 32,684,321 (GRCm39)	F26L	probably benign	Het
Atg2b	C	T	12: 105,627,392 (GRCm39)	V532I	probably benign	Het
Atp2b4	A	G	1: 133,645,726 (GRCm39)	F943L	probably damaging	Het
Atp7b	G	A	8: 22,518,740 (GRCm39)	L21F	possibly damaging	Het
Ccdc9b	T	A	2: 118,592,241 (GRCm39)		probably null	Het
Cenpf	A	T	1: 189,392,235 (GRCm39)	D532E	probably benign	Het
Cimip3	G	A	17: 47,724,815 (GRCm39)	S102L	probably benign	Het
Ckmt2	A	T	13: 92,009,320 (GRCm39)	D202E	probably benign	Het
Crim1	A	C	17: 78,675,383 (GRCm39)	K864T	probably benign	Het
Ctnnd2	A	G	15: 30,887,267 (GRCm39)	R765G	possibly damaging	Het
Ddx10	T	A	9: 53,028,499 (GRCm39)	R802*	probably null	Het
Dnah7b	T	A	1: 46,216,441 (GRCm39)	F1152L	probably damaging	Het
Dsg1c	T	C	18: 20,415,080 (GRCm39)	L659P	probably damaging	Het
Dzank1	A	G	2: 144,324,108 (GRCm39)	F577L	probably benign	Het
Eci3	T	C	13: 35,140,903 (GRCm39)	D93G	probably benign	Het
Ep400	C	A	5: 110,887,311 (GRCm39)	V591L	probably benign	Het
Fgd3	T	C	13: 49,420,170 (GRCm39)	N569S	probably benign	Het
Ghsr	T	A	3: 27,426,631 (GRCm39)	V229E	probably damaging	Het
Gna15	T	A	10: 81,345,176 (GRCm39)	I230F	probably damaging	Het
Gnl2	A	G	4: 124,940,099 (GRCm39)	S324G	probably damaging	Het
Grid1	T	C	14: 35,031,250 (GRCm39)	V281A	probably benign	Het
Hebp2	G	A	10: 18,421,509 (GRCm39)	A12V	possibly damaging	Het
Hfm1	T	C	5: 107,000,989 (GRCm39)	D1254G	probably benign	Het
Hif3a	A	C	7: 16,776,564 (GRCm39)	S459A	probably benign	Het
Hnrnpl	T	A	7: 28,513,348 (GRCm39)	N149K	possibly damaging	Het
Hoxc10	A	T	15: 102,875,635 (GRCm39)	S115C	probably damaging	Het
Hycc2	A	T	1: 58,578,766 (GRCm39)	D261E	probably benign	Het
Ifnab	T	C	4: 88,609,292 (GRCm39)	D58G	possibly damaging	Het
Itfg1	T	C	8: 86,537,243 (GRCm39)	T195A	probably benign	Het
Itpr3	T	A	17: 27,324,459 (GRCm39)		probably null	Het
Iws1	A	G	18: 32,213,334 (GRCm39)	D254G	probably benign	Het
Kl	C	A	5: 150,912,406 (GRCm39)	D718E	probably benign	Het
Lrit2	A	G	14: 36,790,784 (GRCm39)	I154M	probably benign	Het
Lrp2	T	C	2: 69,353,526 (GRCm39)	D578G	probably damaging	Het
Lss	T	G	10: 76,372,123 (GRCm39)	Y159*	probably null	Het
Mab21l1	C	A	3: 55,691,254 (GRCm39)	Y280*	probably null	Het
Maf	A	T	8: 116,419,909 (GRCm39)	S378T	probably benign	Het
Mast2	C	T	4: 116,287,716 (GRCm39)	V59I	probably benign	Het
Nisch	C	T	14: 30,902,895 (GRCm39)		probably benign	Het
Nova2	A	T	7: 18,691,479 (GRCm39)	N139Y	probably damaging	Het
Nup210	C	A	6: 91,013,358 (GRCm39)	D434Y	probably damaging	Het
Nvl	C	T	1: 180,936,724 (GRCm39)		probably null	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or51g2	A	G	7: 102,623,086 (GRCm39)	Y38H	probably damaging	Het
Or56b1	A	G	7: 104,285,696 (GRCm39)	T272A	probably benign	Het
Or8k18	A	T	2: 86,085,585 (GRCm39)	Y151N	probably damaging	Het
Or8k3b	A	G	2: 86,520,677 (GRCm39)	V214A	possibly damaging	Het
Pbx3	T	C	2: 34,094,871 (GRCm39)	Y255C	probably damaging	Het
Pcyt1a	G	A	16: 32,270,611 (GRCm39)	E27K	possibly damaging	Het
Pex6	A	T	17: 47,024,990 (GRCm39)	T348S	probably benign	Het
Phf21b	A	G	15: 84,681,597 (GRCm39)	I251T	probably damaging	Het
Pkd2l2	T	C	18: 34,563,755 (GRCm39)	I490T	probably damaging	Het
Pla2g12a	T	A	3: 129,672,534 (GRCm39)	L56Q	probably damaging	Het
Plk4	A	G	3: 40,760,971 (GRCm39)	T434A	probably benign	Het
Ptpn13	A	G	5: 103,711,998 (GRCm39)	N1632S	probably benign	Het
Rfpl4	C	T	7: 5,113,711 (GRCm39)	V151M	probably damaging	Het
Rpain	G	C	11: 70,865,741 (GRCm39)	E169Q	probably damaging	Het
Samd8	T	A	14: 21,825,227 (GRCm39)	V124D	possibly damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Slc12a1	C	T	2: 125,032,215 (GRCm39)	T622I	probably damaging	Het
Slc17a3	T	A	13: 24,029,428 (GRCm39)	V67D	probably damaging	Het
Slc41a3	G	T	6: 90,621,198 (GRCm39)	V387L	probably damaging	Het
Slitrk1	T	A	14: 109,150,709 (GRCm39)	M1L	probably benign	Het
Stat4	T	C	1: 52,050,952 (GRCm39)	W4R	probably damaging	Het
Tas2r126	A	G	6: 42,411,502 (GRCm39)	T12A	probably benign	Het
Tbc1d24	A	G	17: 24,404,953 (GRCm39)	C64R	probably damaging	Het
Tcaf2	T	C	6: 42,606,440 (GRCm39)	S505G	probably benign	Het
Tiam2	T	C	17: 3,566,978 (GRCm39)	V1506A	probably benign	Het
Tmem9b	A	C	7: 109,336,156 (GRCm39)	S163A	probably benign	Het
Tmtc2	G	A	10: 105,139,519 (GRCm39)	S669L	probably damaging	Het
Tnpo3	A	T	6: 29,560,220 (GRCm39)	I641K	possibly damaging	Het
Ttn	C	T	2: 76,565,711 (GRCm39)	A28214T	probably damaging	Het
Utp11	G	A	4: 124,577,032 (GRCm39)	A113V	probably benign	Het
Utp20	G	A	10: 88,588,868 (GRCm39)	R2434C	probably damaging	Het
Vmn1r60	A	T	7: 5,547,902 (GRCm39)	I66N	probably benign	Het
Zeb2	T	C	2: 44,887,206 (GRCm39)	E572G	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
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
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'- CGGCGGCAGCAGCGAAATTA -3'
(R):5'- ATTGTCTCTTCCTGTCATCTTGGGAGTA -3'

Sequencing Primer
(F):5'- accctgactaagacaagcac -3'
(R):5'- CTGTCATCTTGGGAGTACTGTTTTG -3'

Posted On

2014-04-13