Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01983:Gm10093'

183532

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm10093

Ensembl Gene

ENSMUSG00000061062

Gene Name

predicted pseudogene 10093

Synonyms

EG15181

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.817) question?

Stock #

IGL01983

Quality Score

Status

Chromosome

Chromosomal Location

78491565-78493541 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78492853 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 424 (D424E)

Ref Sequence

ENSEMBL: ENSMUSP00000078339 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079363]

Predicted Effect

probably benign
Transcript: ENSMUST00000079363
AA Change: D424E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000078339
Gene: ENSMUSG00000061062
AA Change: D424E

Domain	Start	End	E-Value	Type
Pfam:Hist_deacetyl	18	320	3.2e-84	PFAM
low complexity region	390	402	N/A	INTRINSIC
low complexity region	417	430	N/A	INTRINSIC
low complexity region	443	471	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	G	A	1: 66,841,624	Q328*	probably null	Het
Alpk2	T	C	18: 65,350,682	Y85C	probably damaging	Het
Arhgap31	C	T	16: 38,601,765	R1313Q	probably damaging	Het
Chrnb1	G	T	11: 69,795,729	R22S	probably benign	Het
Clec7a	G	A	6: 129,465,576		probably benign	Het
Epb41l5	A	G	1: 119,579,084		probably benign	Het
Fam49b	A	G	15: 63,937,387	S251P	probably benign	Het
Hydin	A	C	8: 110,514,895	I2106L	probably benign	Het
Igkv3-5	T	A	6: 70,663,686	D50E	probably benign	Het
Irf2bp1	G	T	7: 19,005,295	A287S	possibly damaging	Het
Ldb3	G	A	14: 34,577,199	S156L	probably benign	Het
Lnpep	A	T	17: 17,531,178	W942R	probably damaging	Het
Mst1r	T	A	9: 107,917,276	V1218D	probably damaging	Het
Naxd	G	T	8: 11,510,218		probably benign	Het
Nol9	T	C	4: 152,046,037		probably null	Het
Nus1	T	A	10: 52,436,657	L295Q	probably damaging	Het
Nxph2	A	G	2: 23,399,934	I99M	probably benign	Het
Plekhg1	T	A	10: 3,945,904	I432N	probably damaging	Het
Pon3	A	G	6: 5,240,974	L69S	probably damaging	Het
Pram1	C	A	17: 33,640,861	A134D	probably damaging	Het
Serpinb6c	T	A	13: 33,897,334		probably benign	Het
Stk10	A	T	11: 32,589,460	E280V	probably benign	Het
Tbc1d10c	T	A	19: 4,190,709	Q34L	possibly damaging	Het
Tnr	G	A	1: 159,863,779	V500I	probably benign	Het
Trim66	G	A	7: 109,458,251	R992*	probably null	Het
Unc45b	A	G	11: 82,936,861	D728G	probably benign	Het
Usp13	A	G	3: 32,917,459	D696G	probably damaging	Het
Utrn	C	T	10: 12,669,781	V1707I	probably benign	Het
Vmn2r96	A	T	17: 18,597,265	H368L	probably damaging	Het
Xrn1	T	C	9: 95,973,368		probably null	Het
Zfhx3	C	A	8: 108,947,234	L1639M	probably damaging	Het
Znfx1	A	T	2: 167,056,350	V218E	probably damaging	Het

Other mutations in Gm10093

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01936:Gm10093	APN	17	78492129	missense	probably damaging	1.00
IGL02543:Gm10093	APN	17	78491874	missense	probably damaging	0.97
R1174:Gm10093	UTSW	17	78492078	missense	probably benign	0.01
R1605:Gm10093	UTSW	17	78492108	missense	probably damaging	0.98
R2416:Gm10093	UTSW	17	78492516	missense	probably damaging	1.00
R2919:Gm10093	UTSW	17	78492846	missense	probably damaging	0.98
R2920:Gm10093	UTSW	17	78492846	missense	probably damaging	0.98
R3846:Gm10093	UTSW	17	78492972	missense	possibly damaging	0.91
R4544:Gm10093	UTSW	17	78492959	missense	probably benign	0.02
R4546:Gm10093	UTSW	17	78492959	missense	probably benign	0.02
R5223:Gm10093	UTSW	17	78492438	missense	probably benign	0.02
R5297:Gm10093	UTSW	17	78492758	missense	probably benign
R6164:Gm10093	UTSW	17	78492287	missense	probably damaging	0.99
R6568:Gm10093	UTSW	17	78492588	missense	probably damaging	1.00
R6726:Gm10093	UTSW	17	78492858	missense	probably damaging	0.99
R6901:Gm10093	UTSW	17	78492660	missense	probably benign	0.07
R6923:Gm10093	UTSW	17	78492914	missense	possibly damaging	0.91
R7838:Gm10093	UTSW	17	78492018	missense	probably damaging	1.00
R7921:Gm10093	UTSW	17	78492018	missense	probably damaging	1.00
R8002:Gm10093	UTSW	17	78492287	missense	probably damaging	0.99
X0060:Gm10093	UTSW	17	78492128	missense	probably damaging	0.99

Posted On

2014-05-07