Mutagenetix > Incidental Mutation

Incidental Mutation 'R6285:D5Ertd579e'

508163

Institutional Source

Beutler Lab

Gene Symbol

D5Ertd579e

Ensembl Gene

ENSMUSG00000029190

Gene Name

DNA segment, Chr 5, ERATO Doi 579, expressed

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.266) question?

Stock #

R6285 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36600485-36696024 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 36615577 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 491 (C491W)

Ref Sequence

ENSEMBL: ENSMUSP00000031091 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031091]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000031091
AA Change: C491W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031091
Gene: ENSMUSG00000029190
AA Change: C491W

Domain	Start	End	E-Value	Type
Pfam:DUF4603	23	1303	N/A	PFAM
low complexity region	1365	1376	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132383

SMART Domains

Protein: ENSMUSP00000116548
Gene: ENSMUSG00000029190

Domain	Start	End	E-Value	Type
Pfam:DUF4603	1	1181	N/A	PFAM
low complexity region	1243	1254	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140063

SMART Domains

Protein: ENSMUSP00000118804
Gene: ENSMUSG00000029190

Domain	Start	End	E-Value	Type
Pfam:DUF4603	23	77	1e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150088

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201187

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.8%
20x: 96.9%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730017C20Rik	A	G	18: 59,072,224	K28R	probably benign	Het
Acad9	A	T	3: 36,082,175	M370L	probably benign	Het
Aimp1	A	G	3: 132,667,504	M225T	possibly damaging	Het
Atp8a1	T	C	5: 67,667,607	I809V	possibly damaging	Het
Bbs10	A	G	10: 111,299,761	Y245C	probably damaging	Het
Cabin1	A	T	10: 75,684,323	F1572Y	probably damaging	Het
Cd79a	A	G	7: 24,899,347	N107S	possibly damaging	Het
Cdc7	G	A	5: 106,983,059	A428T	probably benign	Het
Cep290	A	G	10: 100,523,329	T974A	probably benign	Het
Cep350	A	T	1: 155,953,374	N261K	possibly damaging	Het
Cfap46	T	A	7: 139,661,085	D8V	probably damaging	Het
Col6a4	T	C	9: 106,074,986	D571G	probably damaging	Het
Cpe	A	C	8: 64,617,611	V200G	probably benign	Het
Ctnnd1	C	T	2: 84,613,887		probably null	Het
Dek	A	G	13: 47,099,380	I183T	probably damaging	Het
Dennd1a	A	T	2: 37,852,441	H437Q	possibly damaging	Het
Dido1	C	T	2: 180,661,147	A1655T	probably benign	Het
Eva1b	A	G	4: 126,149,485	D106G	probably damaging	Het
Evc2	G	T	5: 37,424,579	S1189I	possibly damaging	Het
Faap100	A	T	11: 120,376,732	L405Q	probably damaging	Het
Fbxw15	T	A	9: 109,557,166	M249L	probably benign	Het
Gbp10	A	T	5: 105,218,460	L526Q	probably damaging	Het
Gm13084	A	G	4: 143,816,039	C4R	probably damaging	Het
Gm14025	T	G	2: 129,037,799	T736P	possibly damaging	Het
Gm19402	A	C	10: 77,690,520		probably benign	Het
Gm2244	A	G	14: 19,540,797	Y141H	probably damaging	Het
Gm4181	A	T	14: 51,633,209	N98K	probably damaging	Het
Gm765	T	C	6: 98,238,173	D163G	probably damaging	Het
Golga4	C	T	9: 118,558,627	R616*	probably null	Het
Gpank1	T	A	17: 35,124,290	S226T	probably damaging	Het
Hipk3	T	C	2: 104,471,425	M141V	probably damaging	Het
Hoxc11	T	C	15: 102,954,743	V73A	probably benign	Het
Igf1r	T	G	7: 68,004,137	I141S	possibly damaging	Het
Jak2	T	A	19: 29,295,659	F628I	probably benign	Het
Kcp	C	A	6: 29,502,365	V227L	probably benign	Het
Knl1	T	G	2: 119,071,941	C1374W	probably damaging	Het
Larp6	A	T	9: 60,737,760	R394S	probably benign	Het
Lilra5	G	A	7: 4,242,115	G253R	probably damaging	Het
Map3k4	A	G	17: 12,264,058	S591P	probably damaging	Het
Mrpl16	T	A	19: 11,772,968	I72K	probably damaging	Het
Nol11	C	G	11: 107,181,034	R244S	probably benign	Het
Nr2f1	T	C	13: 78,195,663	T161A	probably benign	Het
Nrd1	G	T	4: 109,038,006	V476F	probably damaging	Het
Olfr1406	G	T	1: 173,183,910	H175N	probably damaging	Het
Olfr419	A	T	1: 174,250,829	S33T	possibly damaging	Het
Olfr451-ps1	A	T	6: 42,800,909	H56L	probably benign	Het
Olfr535	T	A	7: 140,492,713	L25Q	possibly damaging	Het
P2rx1	A	G	11: 73,008,148	I62V	probably benign	Het
Pcdhgc5	A	T	18: 37,820,621	Y316F	probably benign	Het
Pecam1	T	C	11: 106,685,239	D490G	probably benign	Het
Pfkfb2	A	T	1: 130,707,562	Y87*	probably null	Het
Poldip2	A	G	11: 78,517,632		probably null	Het
Ppp2r5b	T	A	19: 6,230,536	Q304L	probably benign	Het
Psg26	A	G	7: 18,482,828	F29L	probably benign	Het
Ptk6	A	T	2: 181,197,093	L289Q	probably null	Het
Ptprt	A	T	2: 161,901,497	I508N	possibly damaging	Het
Rasgrp4	T	C	7: 29,148,383	F406S	probably damaging	Het
Rspo3	A	G	10: 29,499,930		probably null	Het
Sept8	G	T	11: 53,534,767		probably null	Het
Sirt2	A	C	7: 28,788,046	T345P	probably benign	Het
Slc6a20b	T	C	9: 123,609,096	E205G	possibly damaging	Het
Sqstm1	G	A	11: 50,202,591	Q327*	probably null	Het
Susd3	T	A	13: 49,237,521	S98C	probably damaging	Het
Tada2b	G	A	5: 36,476,842	R56W	probably damaging	Het
Tbc1d2	A	T	4: 46,615,045	V546E	possibly damaging	Het
Tbx6	A	G	7: 126,781,568	Q21R	possibly damaging	Het
Usp24	T	G	4: 106,374,100		probably null	Het
Vmn2r103	A	G	17: 19,812,144	T727A	probably benign	Het
Wdr48	C	T	9: 119,920,610	T531M	probably damaging	Het

Other mutations in D5Ertd579e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01433:D5Ertd579e	APN	5	36618754	missense	probably damaging	0.99
IGL01925:D5Ertd579e	APN	5	36614284	missense	possibly damaging	0.67
IGL01933:D5Ertd579e	APN	5	36615756	missense	probably benign
IGL02164:D5Ertd579e	APN	5	36614959	missense	probably damaging	1.00
IGL02399:D5Ertd579e	APN	5	36616185	missense	probably damaging	1.00
IGL02896:D5Ertd579e	APN	5	36613982	missense	possibly damaging	0.70
IGL03141:D5Ertd579e	APN	5	36613277	missense	possibly damaging	0.94
IGL03235:D5Ertd579e	APN	5	36618828	splice site	probably benign
R0201:D5Ertd579e	UTSW	5	36616465	missense	probably damaging	1.00
R0377:D5Ertd579e	UTSW	5	36604567	missense	probably benign	0.12
R0830:D5Ertd579e	UTSW	5	36613757	missense	probably damaging	1.00
R0926:D5Ertd579e	UTSW	5	36672866	missense	probably damaging	1.00
R1350:D5Ertd579e	UTSW	5	36613737	missense	probably damaging	1.00
R1448:D5Ertd579e	UTSW	5	36602739	missense	probably benign
R1672:D5Ertd579e	UTSW	5	36613277	missense	possibly damaging	0.50
R1676:D5Ertd579e	UTSW	5	36616109	missense	probably benign	0.01
R1693:D5Ertd579e	UTSW	5	36614097	missense	probably damaging	0.98
R1698:D5Ertd579e	UTSW	5	36604530	missense	probably benign
R1868:D5Ertd579e	UTSW	5	36616427	missense	probably damaging	0.99
R1909:D5Ertd579e	UTSW	5	36614058	missense	probably benign	0.21
R2034:D5Ertd579e	UTSW	5	36613538	nonsense	probably null
R2080:D5Ertd579e	UTSW	5	36616206	missense	probably benign	0.01
R2105:D5Ertd579e	UTSW	5	36613449	missense	probably benign	0.12
R2197:D5Ertd579e	UTSW	5	36614793	missense	possibly damaging	0.69
R4212:D5Ertd579e	UTSW	5	36614479	missense	probably damaging	0.99
R4452:D5Ertd579e	UTSW	5	36616470	missense	probably damaging	1.00
R4626:D5Ertd579e	UTSW	5	36614559	missense	possibly damaging	0.92
R4804:D5Ertd579e	UTSW	5	36629652	splice site	probably null
R4898:D5Ertd579e	UTSW	5	36614941	missense	probably damaging	0.99
R4917:D5Ertd579e	UTSW	5	36615816	missense	probably damaging	1.00
R4960:D5Ertd579e	UTSW	5	36616227	nonsense	probably null
R4973:D5Ertd579e	UTSW	5	36672905	missense	probably benign
R5092:D5Ertd579e	UTSW	5	36602703	missense	probably benign	0.18
R5474:D5Ertd579e	UTSW	5	36615257	missense	probably damaging	1.00
R5475:D5Ertd579e	UTSW	5	36615257	missense	probably damaging	1.00
R5476:D5Ertd579e	UTSW	5	36615257	missense	probably damaging	1.00
R5477:D5Ertd579e	UTSW	5	36615257	missense	probably damaging	1.00
R5801:D5Ertd579e	UTSW	5	36604569	missense	probably damaging	1.00
R6019:D5Ertd579e	UTSW	5	36629692	missense	possibly damaging	0.90
R6184:D5Ertd579e	UTSW	5	36629783	missense	probably damaging	0.99
R6213:D5Ertd579e	UTSW	5	36602634	missense	probably damaging	1.00
R6244:D5Ertd579e	UTSW	5	36615276	missense	probably damaging	0.98
R6276:D5Ertd579e	UTSW	5	36604514	missense	possibly damaging	0.66
R6358:D5Ertd579e	UTSW	5	36616236	splice site	probably null
R6875:D5Ertd579e	UTSW	5	36604657	splice site	probably null
R6967:D5Ertd579e	UTSW	5	36615756	missense	probably benign
R7139:D5Ertd579e	UTSW	5	36613976	missense	probably damaging	1.00
R7329:D5Ertd579e	UTSW	5	36616395	missense	probably benign	0.21
R7464:D5Ertd579e	UTSW	5	36613785	missense	probably damaging	0.99
R7664:D5Ertd579e	UTSW	5	36614617	missense	probably benign	0.00
R7762:D5Ertd579e	UTSW	5	36613381	missense
R7951:D5Ertd579e	UTSW	5	36615173	missense	probably benign
R8175:D5Ertd579e	UTSW	5	36615470	missense	probably damaging	1.00
R8217:D5Ertd579e	UTSW	5	36614058	missense	probably benign	0.00
R8233:D5Ertd579e	UTSW	5	36615244	missense	probably damaging	0.99
R8281:D5Ertd579e	UTSW	5	36613320	missense
R8398:D5Ertd579e	UTSW	5	36614277	nonsense	probably null
R8673:D5Ertd579e	UTSW	5	36672807	missense	probably benign	0.03
R8771:D5Ertd579e	UTSW	5	36604596	missense	probably damaging	1.00
R8853:D5Ertd579e	UTSW	5	36629680	missense	probably damaging	0.99
R9106:D5Ertd579e	UTSW	5	36616338	missense	probably benign	0.39
R9121:D5Ertd579e	UTSW	5	36615434	missense	probably damaging	1.00
R9413:D5Ertd579e	UTSW	5	36614934	missense	probably damaging	1.00
R9569:D5Ertd579e	UTSW	5	36602635	missense	probably damaging	0.97
R9715:D5Ertd579e	UTSW	5	36629685	missense	possibly damaging	0.94
R9723:D5Ertd579e	UTSW	5	36614940	missense	probably damaging	0.99
RF022:D5Ertd579e	UTSW	5	36614662	missense	probably damaging	1.00
X0019:D5Ertd579e	UTSW	5	36613958	missense	probably damaging	1.00
Z1176:D5Ertd579e	UTSW	5	36615762	missense	probably benign	0.00
Z1189:D5Ertd579e	UTSW	5	36614906	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCAACATTCTGCCTCAAAATC -3'
(R):5'- TGGTACACAGAGCCCATTGC -3'

Sequencing Primer
(F):5'- ACATTCTGCCTCAAAATCTGTATTC -3'
(R):5'- AGATACAAGTACTCTGACAGCAG -3'

Posted On

2018-03-15