Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01805:D17Wsu92e'

155662

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

D17Wsu92e

Ensembl Gene

ENSMUSG00000056692

Gene Name

DNA segment, Chr 17, Wayne State University 92, expressed

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01805

Quality Score

Status

Chromosome

Chromosomal Location

27751232-27820558 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 27767906 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110513 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075076] [ENSMUST00000114859] [ENSMUST00000114863]

Predicted Effect

unknown
Transcript: ENSMUST00000075076
AA Change: G282D

SMART Domains

Protein: ENSMUSP00000074585
Gene: ENSMUSG00000056692
AA Change: G282D

Domain	Start	End	E-Value	Type
Pfam:UBA_4	25	68	1.6e-13	PFAM
Pfam:N_BRCA1_IG	80	179	1.6e-37	PFAM
low complexity region	257	276	N/A	INTRINSIC
low complexity region	282	291	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114859

SMART Domains

Protein: ENSMUSP00000110509
Gene: ENSMUSG00000056692

Domain	Start	End	E-Value	Type
Pfam:UBA_4	25	69	5.1e-15	PFAM
PDB:4OLE\|D	74	180	2e-9	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000114863

SMART Domains

Protein: ENSMUSP00000110513
Gene: ENSMUSG00000056692

Domain	Start	End	E-Value	Type
Pfam:UBA_4	25	69	2.2e-14	PFAM
PDB:4OLE\|D	74	180	8e-9	PDB
low complexity region	257	276	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019D03Rik	T	C	1: 52,925,518	D17G	possibly damaging	Het
Adam28	G	T	14: 68,642,091	S169R	probably benign	Het
Aox1	T	C	1: 58,081,513	M855T	possibly damaging	Het
Apc	C	A	18: 34,318,218	N2688K	probably benign	Het
Arhgap23	T	A	11: 97,492,602		probably benign	Het
Bpifa6	A	G	2: 153,984,912	T66A	probably benign	Het
C1qtnf1	T	A	11: 118,448,167	L221Q	probably damaging	Het
Ccdc175	T	A	12: 72,129,229		probably benign	Het
Ccl1	C	A	11: 82,178,132	M26I	possibly damaging	Het
Dnah10	T	A	5: 124,783,921	F2123I	probably damaging	Het
Dpcr1	T	A	17: 35,637,643	T355S	possibly damaging	Het
Fancm	T	C	12: 65,113,861		probably null	Het
Fstl4	C	A	11: 53,186,357	A647E	probably damaging	Het
Hmgb4	G	T	4: 128,260,222		probably benign	Het
Hr	A	T	14: 70,565,297		probably benign	Het
Kcna4	G	T	2: 107,296,498	V526L	probably damaging	Het
Mas1	T	C	17: 12,842,230	Y102C	probably damaging	Het
Mul1	C	T	4: 138,439,663	P343S	possibly damaging	Het
Obscn	T	C	11: 59,132,596	S652G	probably damaging	Het
Olfr972	T	C	9: 39,873,779	F168S	probably damaging	Het
Pjvk	A	T	2: 76,657,514	N250I	probably benign	Het
Pkd2	T	C	5: 104,483,093	I461T	probably benign	Het
Psen2	T	C	1: 180,229,838		probably null	Het
Ralb	T	C	1: 119,475,995	E81G	probably benign	Het
Slc15a4	T	C	5: 127,608,836	T261A	possibly damaging	Het
Vmn2r77	G	A	7: 86,811,187	V574M	probably benign	Het
Xrn2	A	G	2: 147,028,143	I251V	probably damaging	Het
Zfp974	G	A	7: 27,912,264		probably benign	Het

Other mutations in D17Wsu92e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:D17Wsu92e	APN	17	27767919	missense	probably damaging	1.00
IGL01107:D17Wsu92e	APN	17	27786069	critical splice donor site	probably null
detroit	UTSW	17	27794070	splice site	probably null
michigander	UTSW	17	27767986	missense	probably benign	0.12
R0423:D17Wsu92e	UTSW	17	27786233	missense	probably damaging	1.00
R0833:D17Wsu92e	UTSW	17	27786138	missense	probably damaging	1.00
R0836:D17Wsu92e	UTSW	17	27786138	missense	probably damaging	1.00
R1055:D17Wsu92e	UTSW	17	27767936	missense	probably damaging	1.00
R1251:D17Wsu92e	UTSW	17	27786070	critical splice donor site	probably null
R1646:D17Wsu92e	UTSW	17	27793960	missense	probably damaging	1.00
R4022:D17Wsu92e	UTSW	17	27786262	missense	probably damaging	0.97
R4604:D17Wsu92e	UTSW	17	27820315	missense	probably damaging	1.00
R5360:D17Wsu92e	UTSW	17	27794046	missense	probably damaging	1.00
R6210:D17Wsu92e	UTSW	17	27767986	missense	probably benign	0.12
R7201:D17Wsu92e	UTSW	17	27794070	splice site	probably null
R7994:D17Wsu92e	UTSW	17	27767943	missense	probably benign
R8057:D17Wsu92e	UTSW	17	27767889	missense	unknown
R8767:D17Wsu92e	UTSW	17	27768069	missense	probably benign	0.01

Posted On

2014-02-04