Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03235:D5Ertd579e'

414041

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

D5Ertd579e

Ensembl Gene

ENSMUSG00000029190

Gene Name

DNA segment, Chr 5, ERATO Doi 579, expressed

Synonyms

9030221A05Rik, A930018H20Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.317) question?

Stock #

IGL03235

Quality Score

Status

Chromosome

Chromosomal Location

36757829-36853368 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 36776172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031091 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000031091

SMART Domains

Protein: ENSMUSP00000031091
Gene: ENSMUSG00000029190

Domain	Start	End	E-Value	Type
Pfam:DUF4603	23	1303	N/A	PFAM
low complexity region	1365	1376	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: ENSMUST00000201187

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap2b1	A	G	11: 83,232,210 (GRCm39)	N461S	probably benign	Het
Baz1a	A	T	12: 54,945,320 (GRCm39)	V1345E	probably damaging	Het
Ccdc60	T	A	5: 116,269,205 (GRCm39)	M472L	probably benign	Het
Cenpf	C	T	1: 189,416,124 (GRCm39)	R67K	probably damaging	Het
Cfap45	A	T	1: 172,366,060 (GRCm39)	R304S	possibly damaging	Het
Eefsec	T	C	6: 88,353,357 (GRCm39)	D104G	probably damaging	Het
Eif2ak4	A	G	2: 118,273,621 (GRCm39)	S849G	probably damaging	Het
Frem1	G	A	4: 82,938,992 (GRCm39)	T30I	possibly damaging	Het
Glt28d2	A	T	3: 85,779,109 (GRCm39)	H121Q	possibly damaging	Het
Hacl1	C	T	14: 31,352,995 (GRCm39)	W106*	probably null	Het
Marchf6	A	G	15: 31,486,141 (GRCm39)	S376P	probably damaging	Het
Mkrn1	T	C	6: 39,378,264 (GRCm39)	Y289C	probably damaging	Het
Msl2	A	G	9: 100,977,967 (GRCm39)	T114A	probably benign	Het
Ntrk3	C	A	7: 77,842,340 (GRCm39)	K829N	probably damaging	Het
Or4b1d	A	T	2: 89,969,414 (GRCm39)	V23E	possibly damaging	Het
Pcdhgc5	A	T	18: 37,953,151 (GRCm39)	I142F	probably damaging	Het
Pip5kl1	A	G	2: 32,468,166 (GRCm39)	R153G	probably damaging	Het
Rgs19	T	C	2: 181,331,525 (GRCm39)	K93R	probably benign	Het
Slc36a4	T	A	9: 15,634,845 (GRCm39)	V129E	probably damaging	Het
Spata13	T	C	14: 60,989,241 (GRCm39)	L299P	probably damaging	Het
Tle2	T	C	10: 81,422,085 (GRCm39)	S353P	probably benign	Het
Trav13d-4	T	C	14: 53,995,298 (GRCm39)	V84A	probably benign	Het
Vmn1r8	A	T	6: 57,013,746 (GRCm39)	K266*	probably null	Het
Wwtr1	C	A	3: 57,384,954 (GRCm39)	V255F	probably benign	Het

Other mutations in D5Ertd579e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01433:D5Ertd579e	APN	5	36,776,098 (GRCm39)	missense	probably damaging	0.99
IGL01925:D5Ertd579e	APN	5	36,771,628 (GRCm39)	missense	possibly damaging	0.67
IGL01933:D5Ertd579e	APN	5	36,773,100 (GRCm39)	missense	probably benign
IGL02164:D5Ertd579e	APN	5	36,772,303 (GRCm39)	missense	probably damaging	1.00
IGL02399:D5Ertd579e	APN	5	36,773,529 (GRCm39)	missense	probably damaging	1.00
IGL02896:D5Ertd579e	APN	5	36,771,326 (GRCm39)	missense	possibly damaging	0.70
IGL03141:D5Ertd579e	APN	5	36,770,621 (GRCm39)	missense	possibly damaging	0.94
R0201:D5Ertd579e	UTSW	5	36,773,809 (GRCm39)	missense	probably damaging	1.00
R0377:D5Ertd579e	UTSW	5	36,761,911 (GRCm39)	missense	probably benign	0.12
R0830:D5Ertd579e	UTSW	5	36,771,101 (GRCm39)	missense	probably damaging	1.00
R0926:D5Ertd579e	UTSW	5	36,830,210 (GRCm39)	missense	probably damaging	1.00
R1350:D5Ertd579e	UTSW	5	36,771,081 (GRCm39)	missense	probably damaging	1.00
R1448:D5Ertd579e	UTSW	5	36,760,083 (GRCm39)	missense	probably benign
R1672:D5Ertd579e	UTSW	5	36,770,621 (GRCm39)	missense	possibly damaging	0.50
R1676:D5Ertd579e	UTSW	5	36,773,453 (GRCm39)	missense	probably benign	0.01
R1693:D5Ertd579e	UTSW	5	36,771,441 (GRCm39)	missense	probably damaging	0.98
R1698:D5Ertd579e	UTSW	5	36,761,874 (GRCm39)	missense	probably benign
R1868:D5Ertd579e	UTSW	5	36,773,771 (GRCm39)	missense	probably damaging	0.99
R1909:D5Ertd579e	UTSW	5	36,771,402 (GRCm39)	missense	probably benign	0.21
R2034:D5Ertd579e	UTSW	5	36,770,882 (GRCm39)	nonsense	probably null
R2080:D5Ertd579e	UTSW	5	36,773,550 (GRCm39)	missense	probably benign	0.01
R2105:D5Ertd579e	UTSW	5	36,770,793 (GRCm39)	missense	probably benign	0.12
R2197:D5Ertd579e	UTSW	5	36,772,137 (GRCm39)	missense	possibly damaging	0.69
R4212:D5Ertd579e	UTSW	5	36,771,823 (GRCm39)	missense	probably damaging	0.99
R4452:D5Ertd579e	UTSW	5	36,773,814 (GRCm39)	missense	probably damaging	1.00
R4626:D5Ertd579e	UTSW	5	36,771,903 (GRCm39)	missense	possibly damaging	0.92
R4804:D5Ertd579e	UTSW	5	36,786,996 (GRCm39)	splice site	probably null
R4898:D5Ertd579e	UTSW	5	36,772,285 (GRCm39)	missense	probably damaging	0.99
R4917:D5Ertd579e	UTSW	5	36,773,160 (GRCm39)	missense	probably damaging	1.00
R4960:D5Ertd579e	UTSW	5	36,773,571 (GRCm39)	nonsense	probably null
R4973:D5Ertd579e	UTSW	5	36,830,249 (GRCm39)	missense	probably benign
R5092:D5Ertd579e	UTSW	5	36,760,047 (GRCm39)	missense	probably benign	0.18
R5474:D5Ertd579e	UTSW	5	36,772,601 (GRCm39)	missense	probably damaging	1.00
R5475:D5Ertd579e	UTSW	5	36,772,601 (GRCm39)	missense	probably damaging	1.00
R5476:D5Ertd579e	UTSW	5	36,772,601 (GRCm39)	missense	probably damaging	1.00
R5477:D5Ertd579e	UTSW	5	36,772,601 (GRCm39)	missense	probably damaging	1.00
R5801:D5Ertd579e	UTSW	5	36,761,913 (GRCm39)	missense	probably damaging	1.00
R6019:D5Ertd579e	UTSW	5	36,787,036 (GRCm39)	missense	possibly damaging	0.90
R6184:D5Ertd579e	UTSW	5	36,787,127 (GRCm39)	missense	probably damaging	0.99
R6213:D5Ertd579e	UTSW	5	36,759,978 (GRCm39)	missense	probably damaging	1.00
R6244:D5Ertd579e	UTSW	5	36,772,620 (GRCm39)	missense	probably damaging	0.98
R6276:D5Ertd579e	UTSW	5	36,761,858 (GRCm39)	missense	possibly damaging	0.66
R6285:D5Ertd579e	UTSW	5	36,772,921 (GRCm39)	missense	probably damaging	1.00
R6358:D5Ertd579e	UTSW	5	36,773,580 (GRCm39)	splice site	probably null
R6875:D5Ertd579e	UTSW	5	36,762,001 (GRCm39)	splice site	probably null
R6967:D5Ertd579e	UTSW	5	36,773,100 (GRCm39)	missense	probably benign
R7139:D5Ertd579e	UTSW	5	36,771,320 (GRCm39)	missense	probably damaging	1.00
R7329:D5Ertd579e	UTSW	5	36,773,739 (GRCm39)	missense	probably benign	0.21
R7464:D5Ertd579e	UTSW	5	36,771,129 (GRCm39)	missense	probably damaging	0.99
R7664:D5Ertd579e	UTSW	5	36,771,961 (GRCm39)	missense	probably benign	0.00
R7762:D5Ertd579e	UTSW	5	36,770,725 (GRCm39)	missense
R7951:D5Ertd579e	UTSW	5	36,772,517 (GRCm39)	missense	probably benign
R8175:D5Ertd579e	UTSW	5	36,772,814 (GRCm39)	missense	probably damaging	1.00
R8217:D5Ertd579e	UTSW	5	36,771,402 (GRCm39)	missense	probably benign	0.00
R8233:D5Ertd579e	UTSW	5	36,772,588 (GRCm39)	missense	probably damaging	0.99
R8281:D5Ertd579e	UTSW	5	36,770,664 (GRCm39)	missense
R8398:D5Ertd579e	UTSW	5	36,771,621 (GRCm39)	nonsense	probably null
R8673:D5Ertd579e	UTSW	5	36,830,151 (GRCm39)	missense	probably benign	0.03
R8771:D5Ertd579e	UTSW	5	36,761,940 (GRCm39)	missense	probably damaging	1.00
R8853:D5Ertd579e	UTSW	5	36,787,024 (GRCm39)	missense	probably damaging	0.99
R9106:D5Ertd579e	UTSW	5	36,773,682 (GRCm39)	missense	probably benign	0.39
R9121:D5Ertd579e	UTSW	5	36,772,778 (GRCm39)	missense	probably damaging	1.00
R9413:D5Ertd579e	UTSW	5	36,772,278 (GRCm39)	missense	probably damaging	1.00
R9569:D5Ertd579e	UTSW	5	36,759,979 (GRCm39)	missense	probably damaging	0.97
R9715:D5Ertd579e	UTSW	5	36,787,029 (GRCm39)	missense	possibly damaging	0.94
R9723:D5Ertd579e	UTSW	5	36,772,284 (GRCm39)	missense	probably damaging	0.99
RF022:D5Ertd579e	UTSW	5	36,772,006 (GRCm39)	missense	probably damaging	1.00
X0019:D5Ertd579e	UTSW	5	36,771,302 (GRCm39)	missense	probably damaging	1.00
Z1176:D5Ertd579e	UTSW	5	36,773,106 (GRCm39)	missense	probably benign	0.00
Z1189:D5Ertd579e	UTSW	5	36,772,250 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02