Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00432:Iws1'

5728

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Iws1

Ensembl Gene

ENSMUSG00000024384

Gene Name

IWS1, SUPT6 interacting protein

Synonyms

1700069O15Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.953) question?

Stock #

IGL00432

Quality Score

Status

Chromosome

Chromosomal Location

32067741-32104328 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 32084688 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 448 (N448K)

Ref Sequence

ENSEMBL: ENSMUSP00000148514 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025243] [ENSMUST00000212675]

Predicted Effect

probably benign
Transcript: ENSMUST00000025243
AA Change: N448K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000025243
Gene: ENSMUSG00000024384
AA Change: N448K

Domain	Start	End	E-Value	Type
low complexity region	21	32	N/A	INTRINSIC
low complexity region	73	86	N/A	INTRINSIC
low complexity region	92	109	N/A	INTRINSIC
internal_repeat_2	112	179	9.21e-13	PROSPERO
internal_repeat_1	118	184	9.82e-20	PROSPERO
internal_repeat_1	183	296	9.82e-20	PROSPERO
internal_repeat_2	229	316	9.21e-13	PROSPERO
low complexity region	320	332	N/A	INTRINSIC
low complexity region	357	373	N/A	INTRINSIC
low complexity region	384	404	N/A	INTRINSIC
low complexity region	407	418	N/A	INTRINSIC
low complexity region	422	442	N/A	INTRINSIC
low complexity region	528	540	N/A	INTRINSIC
Pfam:Med26	584	636	4.8e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212115

Predicted Effect

probably benign
Transcript: ENSMUST00000212280

Predicted Effect

probably benign
Transcript: ENSMUST00000212458

Predicted Effect

probably benign
Transcript: ENSMUST00000212675
AA Change: N448K

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000213074

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	T	1: 130,742,836	Q265L	possibly damaging	Het
Akr1c18	T	A	13: 4,137,233	H168L	probably damaging	Het
Arid3b	A	G	9: 57,833,924	S80P	possibly damaging	Het
Barhl2	C	T	5: 106,455,499	A265T	possibly damaging	Het
Brd1	A	C	15: 88,730,158	V178G	probably benign	Het
Brd2	C	T	17: 34,114,423	R26Q	probably damaging	Het
Ddr2	T	C	1: 169,997,958	M358V	probably benign	Het
Dnajc14	A	G	10: 128,806,332	D41G	probably damaging	Het
Erap1	T	G	13: 74,673,659	V711G	probably benign	Het
Gchfr	A	G	2: 119,169,748	R37G	probably damaging	Het
Gm20518	T	A	16: 17,858,498	N136I	probably damaging	Het
Grm6	A	T	11: 50,863,297		probably benign	Het
Hydin	T	A	8: 110,601,252	V4797E	probably damaging	Het
Lin7c	T	C	2: 109,896,453		probably benign	Het
Lrrc40	T	A	3: 158,048,450	L196Q	probably damaging	Het
Lrrtm2	C	T	18: 35,213,268	G327D	probably benign	Het
Masp1	C	T	16: 23,513,851	C78Y	probably damaging	Het
Mmd	C	T	11: 90,264,534	R101W	probably damaging	Het
Myo1d	A	G	11: 80,601,740	Y730H	probably benign	Het
Pcdh15	A	G	10: 74,291,082		probably benign	Het
Pglyrp4	G	A	3: 90,739,028	V290M	probably damaging	Het
Plxna2	G	A	1: 194,644,096	V113I	probably benign	Het
Prkch	T	A	12: 73,702,589		probably benign	Het
Rabgef1	G	T	5: 130,208,724	E213*	probably null	Het
Rdh16f2	T	A	10: 127,866,664	C37S	probably damaging	Het
Reln	A	G	5: 22,010,127	Y1109H	probably damaging	Het
Scn7a	A	T	2: 66,741,982	L215*	probably null	Het
Slc25a33	A	T	4: 149,744,919	L261H	probably damaging	Het
Slc28a3	A	T	13: 58,569,411		probably null	Het
Slc38a6	T	C	12: 73,351,803	I369T	probably benign	Het
Tgm4	A	T	9: 123,062,382		probably benign	Het
Tnr	A	G	1: 159,861,245	I426V	probably benign	Het
Vmn1r216	A	G	13: 23,099,404	I86V	probably benign	Het
Wwc1	G	A	11: 35,844,202	P949S	possibly damaging	Het
Zfp326	A	T	5: 105,896,533	I286F	probably damaging	Het

Other mutations in Iws1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01432:Iws1	APN	18	32083466	splice site	probably benign
IGL01647:Iws1	APN	18	32097222	nonsense	probably null
IGL02054:Iws1	APN	18	32090542	critical splice donor site	probably null
IGL02189:Iws1	APN	18	32093125	missense	probably damaging	1.00
IGL02664:Iws1	APN	18	32070164	missense	possibly damaging	0.81
IGL03384:Iws1	APN	18	32093150	missense	probably damaging	1.00
IGL03394:Iws1	APN	18	32088248	splice site	probably benign
R0352:Iws1	UTSW	18	32084205	missense	probably damaging	1.00
R1385:Iws1	UTSW	18	32090430	missense	probably benign	0.03
R1486:Iws1	UTSW	18	32097256	missense	probably damaging	1.00
R1526:Iws1	UTSW	18	32080125	missense	probably benign	0.00
R1529:Iws1	UTSW	18	32080281	missense	probably benign
R2094:Iws1	UTSW	18	32084666	missense	probably damaging	1.00
R3774:Iws1	UTSW	18	32079995	missense	probably damaging	1.00
R3907:Iws1	UTSW	18	32079920	missense	possibly damaging	0.93
R4018:Iws1	UTSW	18	32070152	nonsense	probably null
R4423:Iws1	UTSW	18	32083450	missense	probably damaging	1.00
R4703:Iws1	UTSW	18	32080013	missense	probably benign	0.19
R4979:Iws1	UTSW	18	32093267	unclassified	probably benign
R5228:Iws1	UTSW	18	32088261	missense	probably damaging	1.00
R5352:Iws1	UTSW	18	32083404	missense	probably damaging	1.00
R6428:Iws1	UTSW	18	32086290	missense	probably damaging	1.00
R6846:Iws1	UTSW	18	32086273	unclassified	probably benign
R6892:Iws1	UTSW	18	32086274	missense	probably damaging	0.99
R7163:Iws1	UTSW	18	32093224	missense	possibly damaging	0.80
R7540:Iws1	UTSW	18	32080483	missense	possibly damaging	0.94
R7605:Iws1	UTSW	18	32089487	missense	probably benign	0.01
R7714:Iws1	UTSW	18	32090515	missense	probably benign	0.00

Posted On

2012-04-20