Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02896:D5Ertd579e'

363402

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 #

IGL02896

Quality Score

Status

Chromosome

Chromosomal Location

36757829-36853368 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36771326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1023 (D1023G)

Ref Sequence

ENSEMBL: ENSMUSP00000031091 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031091
AA Change: D1023G

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000031091
Gene: ENSMUSG00000029190
AA Change: D1023G

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	A	G	8: 88,315,648 (GRCm39)	D246G	probably damaging	Het
Adcy2	A	G	13: 68,875,991 (GRCm39)	S504P	probably damaging	Het
Adgrv1	A	T	13: 81,668,858 (GRCm39)	I2566K	probably damaging	Het
Als2	A	G	1: 59,222,946 (GRCm39)	V1108A	probably benign	Het
Atad2b	T	A	12: 5,008,151 (GRCm39)	F466I	probably damaging	Het
Cyp2a22	T	C	7: 26,635,886 (GRCm39)	M226V	probably damaging	Het
D630003M21Rik	T	C	2: 158,059,205 (GRCm39)	I232V	probably benign	Het
Dolpp1	T	C	2: 30,286,242 (GRCm39)	S114P	probably damaging	Het
Fars2	T	A	13: 36,388,825 (GRCm39)	S105T	probably benign	Het
Fndc7	T	C	3: 108,770,247 (GRCm39)	I560V	probably benign	Het
Gcn1	T	C	5: 115,757,707 (GRCm39)		probably benign	Het
Gm5134	T	C	10: 75,810,058 (GRCm39)	L113P	possibly damaging	Het
Hipk2	G	T	6: 38,675,382 (GRCm39)	H1066Q	probably damaging	Het
Katnb1	A	G	8: 95,822,656 (GRCm39)		probably benign	Het
Lrrd1	T	A	5: 3,901,473 (GRCm39)	S593T	probably benign	Het
Mastl	T	C	2: 23,021,779 (GRCm39)	R713G	probably damaging	Het
Meak7	T	C	8: 120,489,164 (GRCm39)	D373G	probably damaging	Het
Mrgpra6	T	A	7: 46,838,655 (GRCm39)	D181V	probably benign	Het
Mroh7	C	T	4: 106,557,013 (GRCm39)	V828I	possibly damaging	Het
Nbeal2	A	G	9: 110,468,360 (GRCm39)		probably null	Het
Nckap5l	G	T	15: 99,325,091 (GRCm39)	Q471K	possibly damaging	Het
Or12j5	T	C	7: 140,083,968 (GRCm39)		probably null	Het
Or1j15	A	T	2: 36,459,217 (GRCm39)	L202F	possibly damaging	Het
Or5an1c	A	T	19: 12,218,353 (GRCm39)	L224*	probably null	Het
Pfn4	A	G	12: 4,825,451 (GRCm39)	N96S	probably benign	Het
Ppp1r3c	G	A	19: 36,710,865 (GRCm39)	P302S	probably benign	Het
Senp2	T	G	16: 21,837,118 (GRCm39)	Y122*	probably null	Het
Slc5a7	C	A	17: 54,600,045 (GRCm39)	G123*	probably null	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tent2	A	T	13: 93,304,945 (GRCm39)	N280K	probably damaging	Het
Th	C	T	7: 142,449,168 (GRCm39)	R289Q	probably damaging	Het
Tigit	C	T	16: 43,482,561 (GRCm39)	V58I	probably benign	Het
Ush1c	C	A	7: 45,847,839 (GRCm39)	V810L	probably benign	Het
Vmn2r120	C	A	17: 57,816,008 (GRCm39)	K782N	probably damaging	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
IGL03141:D5Ertd579e	APN	5	36,770,621 (GRCm39)	missense	possibly damaging	0.94
IGL03235:D5Ertd579e	APN	5	36,776,172 (GRCm39)	splice site	probably benign
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

2015-12-18