Mutagenetix > Incidental Mutation

Incidental Mutation 'R0399:Ecpas'

38042

Institutional Source

Beutler Lab

Gene Symbol

Ecpas

Ensembl Gene

ENSMUSG00000050812

Gene Name

Ecm29 proteasome adaptor and scaffold

Synonyms

AI314180

MMRRC Submission

038604-MU

Accession Numbers

Essential gene?

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

Stock #

R0399 (G1)

Quality Score

168

Status

Validated

Chromosome

Chromosomal Location

58798911-58912749 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58827047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1029 (T1029A)

Ref Sequence

ENSEMBL: ENSMUSP00000099953 (fasta)

Gene Model

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

AlphaFold

Q6PDI5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102889
AA Change: T1029A

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099953
Gene: ENSMUSG00000050812
AA Change: T1029A

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

probably benign
Transcript: ENSMUST00000149301
AA Change: T1029A

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000117585
Gene: ENSMUSG00000050812
AA Change: T1029A

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

0.0755

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

99% (71/72)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030452D12Rik	T	C	8: 107,231,174 (GRCm39)	M120T	unknown	Het
Actr1a	A	T	19: 46,373,450 (GRCm39)		probably null	Het
Anapc5	A	T	5: 122,929,816 (GRCm39)	V555D	probably damaging	Het
Aox1	A	G	1: 58,108,008 (GRCm39)		probably null	Het
Arhgap30	A	G	1: 171,232,384 (GRCm39)	E343G	probably damaging	Het
Asap2	C	T	12: 21,267,998 (GRCm39)	T291I	possibly damaging	Het
Atp5f1a	T	A	18: 77,869,536 (GRCm39)	Y439*	probably null	Het
Auts2	A	T	5: 131,469,362 (GRCm39)	S428T	probably benign	Het
B3gnt7	T	A	1: 86,233,433 (GRCm39)	C109*	probably null	Het
C4b	C	A	17: 34,947,843 (GRCm39)	Q1657H	probably damaging	Het
Cadm2	A	T	16: 66,544,225 (GRCm39)	L268*	probably null	Het
Cep290	G	A	10: 100,390,262 (GRCm39)		probably benign	Het
Cep68	T	G	11: 20,180,571 (GRCm39)	I687L	probably benign	Het
Chd6	T	A	2: 160,894,608 (GRCm39)	D84V	probably damaging	Het
Clpx	A	G	9: 65,230,051 (GRCm39)	T514A	probably benign	Het
Cox18	A	T	5: 90,362,887 (GRCm39)	C324S	probably benign	Het
Cryzl2	T	C	1: 157,289,586 (GRCm39)	Y75H	probably damaging	Het
Cxcr6	C	T	9: 123,640,016 (GRCm39)	A339V	possibly damaging	Het
Dock1	T	C	7: 134,765,171 (GRCm39)	L1721P	probably benign	Het
Dstyk	T	C	1: 132,380,818 (GRCm39)		probably benign	Het
Ehf	A	G	2: 103,097,215 (GRCm39)	Y246H	probably damaging	Het
Epas1	T	C	17: 87,112,621 (GRCm39)	V73A	probably benign	Het
Filip1	A	G	9: 79,725,592 (GRCm39)	I1009T	possibly damaging	Het
Glis3	A	T	19: 28,276,168 (GRCm39)		probably benign	Het
Gm17333	A	T	16: 77,649,678 (GRCm39)		noncoding transcript	Het
Gpc1	G	A	1: 92,785,031 (GRCm39)	R358H	possibly damaging	Het
Gpr155	A	T	2: 73,200,346 (GRCm39)	I387N	possibly damaging	Het
Gria1	A	G	11: 57,076,853 (GRCm39)	D83G	probably damaging	Het
Grid2	A	G	6: 64,643,036 (GRCm39)	I933V	probably benign	Het
Hhatl	C	T	9: 121,617,828 (GRCm39)	A254T	probably benign	Het
Hook2	A	G	8: 85,720,196 (GRCm39)		probably benign	Het
Ift140	T	A	17: 25,269,314 (GRCm39)	S656R	possibly damaging	Het
Il11ra1	A	T	4: 41,766,185 (GRCm39)	T241S	probably benign	Het
Kank1	A	G	19: 25,388,606 (GRCm39)	I760V	probably benign	Het
Kansl1	T	C	11: 104,314,958 (GRCm39)	E360G	possibly damaging	Het
Klf9	A	T	19: 23,119,446 (GRCm39)	S110C	probably damaging	Het
Klhl31	A	G	9: 77,557,935 (GRCm39)	N217S	probably benign	Het
Lct	T	C	1: 128,228,262 (GRCm39)	Y1077C	probably damaging	Het
Lrrc49	A	T	9: 60,517,529 (GRCm39)		probably benign	Het
Lrrn1	T	A	6: 107,546,081 (GRCm39)	H626Q	probably benign	Het
Mmp28	A	T	11: 83,342,558 (GRCm39)	L40Q	probably damaging	Het
Mroh1	C	T	15: 76,336,299 (GRCm39)	A1530V	probably benign	Het
Myo1e	A	G	9: 70,209,075 (GRCm39)		probably benign	Het
Naa25	A	T	5: 121,573,553 (GRCm39)	M761L	probably benign	Het
Ncln	G	A	10: 81,324,131 (GRCm39)	A465V	probably damaging	Het
Nktr	A	G	9: 121,560,550 (GRCm39)	N98S	probably damaging	Het
Or52h9	T	A	7: 104,202,576 (GRCm39)	V150E	probably benign	Het
Or5a1	G	C	19: 12,097,734 (GRCm39)	A114G	possibly damaging	Het
Or6d15	C	A	6: 116,559,742 (GRCm39)	S55I	probably benign	Het
Or8b4	G	T	9: 37,830,849 (GRCm39)	A304S	possibly damaging	Het
Or9g3	T	C	2: 85,590,248 (GRCm39)	I157M	possibly damaging	Het
Pacsin2	T	C	15: 83,270,983 (GRCm39)	Y222C	probably damaging	Het
Pcdhb15	C	T	18: 37,607,221 (GRCm39)	T151M	possibly damaging	Het
Plcz1	C	A	6: 139,968,956 (GRCm39)	V161L	possibly damaging	Het
Ppp6c	G	A	2: 39,090,136 (GRCm39)		probably benign	Het
Relch	A	G	1: 105,678,684 (GRCm39)		probably benign	Het
Rhbdf2	T	A	11: 116,494,818 (GRCm39)	Y286F	probably benign	Het
Rtn3	A	T	19: 7,435,241 (GRCm39)	D231E	probably damaging	Het
Slc35c2	A	C	2: 165,122,815 (GRCm39)	Y156*	probably null	Het
Spata46	A	G	1: 170,139,106 (GRCm39)	D35G	probably damaging	Het
Tmed3	A	G	9: 89,584,926 (GRCm39)	F110L	possibly damaging	Het
Tmem104	T	G	11: 115,092,134 (GRCm39)		probably benign	Het
Tpbg	T	A	9: 85,726,991 (GRCm39)	V320E	possibly damaging	Het
Trib2	T	C	12: 15,843,664 (GRCm39)	D190G	probably damaging	Het
Tspan2	A	G	3: 102,666,701 (GRCm39)	T26A	probably damaging	Het
Usp17lb	A	C	7: 104,490,358 (GRCm39)	Y190D	possibly damaging	Het
Utp18	C	T	11: 93,770,973 (GRCm39)		probably benign	Het
Utp20	A	T	10: 88,656,841 (GRCm39)	D121E	probably damaging	Het
Vmn1r80	T	A	7: 11,927,244 (GRCm39)	M118K	possibly damaging	Het
Vmn1r84	T	C	7: 12,095,794 (GRCm39)	S300G	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
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

Predicted Primers

PCR Primer
(F):5'- AAAACCAATCTCCTTCCGTGTACTCATC -3'
(R):5'- ACTAGCcacaagcctttaacccca -3'

Sequencing Primer
(F):5'- TCCGTGTACTCATCAACATTAGAC -3'
(R):5'- GAACACATGGACTAGTATTGCCTC -3'

Posted On

2013-05-23