Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01524:D3Ertd254e'

89519

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

D3Ertd254e

Ensembl Gene

ENSMUSG00000033883

Gene Name

DNA segment, Chr 3, ERATO Doi 254, expressed

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

IGL01524

Quality Score

Status

Chromosome

Chromosomal Location

36151017-36170342 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36164580 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 251 (Y251H)

Ref Sequence

ENSEMBL: ENSMUSP00000142829 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165956] [ENSMUST00000197653] [ENSMUST00000205077]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165956
AA Change: Y250H

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131779
Gene: ENSMUSG00000033883
AA Change: Y250H

Domain	Start	End	E-Value	Type
KRAB	3	63	2.91e-34	SMART
ZnF_C2H2	342	364	1.08e-1	SMART
ZnF_C2H2	395	417	1.56e-2	SMART
ZnF_C2H2	423	445	3.11e-2	SMART
ZnF_C2H2	451	473	5.9e-3	SMART
ZnF_C2H2	479	501	1.82e-3	SMART
ZnF_C2H2	507	529	5.21e-4	SMART
ZnF_C2H2	535	557	1.84e-4	SMART
ZnF_C2H2	563	585	1.95e-3	SMART
ZnF_C2H2	591	613	2.05e-2	SMART
ZnF_C2H2	619	641	1.6e-4	SMART
ZnF_C2H2	647	669	5.21e-4	SMART
ZnF_C2H2	675	697	1.69e-3	SMART
ZnF_C2H2	703	725	2.61e-4	SMART
ZnF_C2H2	731	753	1.12e-3	SMART
ZnF_C2H2	759	779	3.85e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197653
AA Change: Y251H

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142829
Gene: ENSMUSG00000033883
AA Change: Y251H

Domain	Start	End	E-Value	Type
KRAB	4	64	1.2e-36	SMART
ZnF_C2H2	343	365	4.4e-4	SMART
ZnF_C2H2	396	418	6.7e-5	SMART
ZnF_C2H2	424	446	1.3e-4	SMART
ZnF_C2H2	452	474	2.5e-5	SMART
ZnF_C2H2	480	502	7.9e-6	SMART
ZnF_C2H2	508	530	2.2e-6	SMART
ZnF_C2H2	536	558	7.7e-7	SMART
ZnF_C2H2	564	586	8e-6	SMART
ZnF_C2H2	592	614	8.9e-5	SMART
ZnF_C2H2	620	642	6.6e-7	SMART
ZnF_C2H2	648	670	2.2e-6	SMART
ZnF_C2H2	676	698	7.1e-6	SMART
ZnF_C2H2	704	726	1.1e-6	SMART
ZnF_C2H2	732	754	4.8e-6	SMART
ZnF_C2H2	760	780	1.6e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000205077

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 36,942,382	D1081G	possibly damaging	Het
Aadat	A	T	8: 60,516,072	D117V	probably damaging	Het
Abca14	T	C	7: 120,253,421	Y870H	possibly damaging	Het
Ankrd36	T	C	11: 5,635,092	I301T	probably benign	Het
Atp10b	T	A	11: 43,259,845	S1457T	probably benign	Het
Ccdc175	G	A	12: 72,131,142		probably benign	Het
Ccdc93	A	G	1: 121,461,899	K224E	probably benign	Het
Cep131	C	T	11: 120,065,960	A886T	probably damaging	Het
Clip1	A	C	5: 123,579,379	H1282Q	probably damaging	Het
Ctcfl	T	G	2: 173,117,384	D183A	probably benign	Het
Cyp17a1	C	T	19: 46,671,056	V112I	probably benign	Het
Fhod3	T	C	18: 25,130,602	I1521T	probably damaging	Het
Gipc2	A	G	3: 152,137,577	I141T	probably damaging	Het
Glo1	T	C	17: 30,596,419	R141G	possibly damaging	Het
Ipmk	C	A	10: 71,372,801	A140E	probably damaging	Het
Kynu	A	G	2: 43,671,382	D310G	possibly damaging	Het
Myo1f	T	A	17: 33,579,883	I174N	probably damaging	Het
Nat10	T	A	2: 103,757,757	N8Y	probably damaging	Het
Nhlrc2	A	G	19: 56,576,155	I304V	probably benign	Het
Pdk4	T	C	6: 5,491,979	H31R	probably damaging	Het
Sema6d	T	C	2: 124,664,075	V644A	possibly damaging	Het
Slc30a4	T	A	2: 122,702,388	K11N	possibly damaging	Het
Slc6a3	T	C	13: 73,538,549	S12P	probably benign	Het
Spats2	C	T	15: 99,212,246	A508V	probably benign	Het
Tinag	A	G	9: 77,045,538	Y55H	probably damaging	Het
Topbp1	T	C	9: 103,311,645	I172T	possibly damaging	Het
Trim17	A	G	11: 58,970,597	T279A	probably damaging	Het
Vmn1r216	C	A	13: 23,099,349	N67K	probably benign	Het
Washc4	T	C	10: 83,576,132	L709P	probably benign	Het
Xdh	T	C	17: 73,923,137		probably null	Het
Zfhx4	C	T	3: 5,243,976	P754L	probably damaging	Het
Zfp623	C	A	15: 75,947,679	S161R	probably benign	Het
Zmat3	G	A	3: 32,341,678	R227C	possibly damaging	Het

Other mutations in D3Ertd254e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02089:D3Ertd254e	APN	3	36164728	missense	possibly damaging	0.53
IGL02162:D3Ertd254e	APN	3	36164061	missense	probably benign	0.18
R0243:D3Ertd254e	UTSW	3	36165154	missense	possibly damaging	0.47
R0512:D3Ertd254e	UTSW	3	36166113	missense	probably damaging	0.96
R0722:D3Ertd254e	UTSW	3	36165069	missense	probably benign	0.35
R0762:D3Ertd254e	UTSW	3	36165867	missense	possibly damaging	0.92
R0792:D3Ertd254e	UTSW	3	36164562	missense	probably benign	0.01
R0894:D3Ertd254e	UTSW	3	36164786	nonsense	probably null
R1731:D3Ertd254e	UTSW	3	36164471	missense	probably benign	0.18
R2098:D3Ertd254e	UTSW	3	36166140	missense	probably benign
R2099:D3Ertd254e	UTSW	3	36164212	missense	possibly damaging	0.86
R3709:D3Ertd254e	UTSW	3	36159576	missense	possibly damaging	0.71
R3808:D3Ertd254e	UTSW	3	36165643	unclassified	probably null
R4035:D3Ertd254e	UTSW	3	36164840	missense	possibly damaging	0.53
R4288:D3Ertd254e	UTSW	3	36159598	missense	possibly damaging	0.71
R4289:D3Ertd254e	UTSW	3	36159598	missense	possibly damaging	0.71
R4959:D3Ertd254e	UTSW	3	36164136	missense	possibly damaging	0.91
R4973:D3Ertd254e	UTSW	3	36164136	missense	possibly damaging	0.91
R5102:D3Ertd254e	UTSW	3	36162665	missense	possibly damaging	0.73
R5462:D3Ertd254e	UTSW	3	36165820	missense	possibly damaging	0.95
R5548:D3Ertd254e	UTSW	3	36165491	missense	possibly damaging	0.90
R5782:D3Ertd254e	UTSW	3	36164979	missense	possibly damaging	0.73
R6153:D3Ertd254e	UTSW	3	36165154	missense	possibly damaging	0.47
R6225:D3Ertd254e	UTSW	3	36166203	missense	probably benign	0.18
R6602:D3Ertd254e	UTSW	3	36164855	missense	possibly damaging	0.86
R6785:D3Ertd254e	UTSW	3	36165452	nonsense	probably null
R7513:D3Ertd254e	UTSW	3	36164643	missense	possibly damaging	0.53
R7846:D3Ertd254e	UTSW	3	36165589	missense	probably benign	0.43
R7929:D3Ertd254e	UTSW	3	36165589	missense	probably benign	0.43
X0021:D3Ertd254e	UTSW	3	36164191	missense	possibly damaging	0.72

Posted On

2013-12-03