Mutagenetix > Incidental Mutations

Incidental Mutation 'R4018:Iws1'

312040

Institutional Source

Beutler Lab

Gene Symbol

Iws1

Ensembl Gene

ENSMUSG00000024384

Gene Name

IWS1, SUPT6 interacting protein

Synonyms

1700069O15Rik

MMRRC Submission

040848-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R4018 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32067741-32104328 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 32070152 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 27 (S27*)

Ref Sequence

ENSEMBL: ENSMUSP00000148514 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000025243
AA Change: S27*

SMART Domains

Protein: ENSMUSP00000025243
Gene: ENSMUSG00000024384
AA Change: S27*

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: ENSMUST00000212104

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212115

Predicted Effect

probably benign
Transcript: ENSMUST00000212280

Predicted Effect

probably null
Transcript: ENSMUST00000212675
AA Change: S27*

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 92.4%

Validation Efficiency

100% (33/33)

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aga	A	G	8: 53,523,191	K319R	probably benign	Het
Brip1	G	T	11: 86,138,851	T619K	possibly damaging	Het
Cd300ld2	G	T	11: 115,012,504		probably benign	Het
Cd300lg	A	G	11: 102,041,594	R2G	probably damaging	Het
Celsr2	C	T	3: 108,394,965	V2616I	possibly damaging	Het
Edem3	C	T	1: 151,804,826		probably benign	Het
Endou	T	A	15: 97,718,937	K235M	probably damaging	Het
Gm5431	T	A	11: 48,889,168	N309I	probably damaging	Het
Il4	T	A	11: 53,613,979		probably benign	Het
Kdm5d	T	C	Y: 910,441		probably benign	Het
Ldb3	T	C	14: 34,552,171		probably benign	Het
Llgl2	A	G	11: 115,847,612	T284A	probably benign	Het
Maml1	A	T	11: 50,265,784	N521K	probably damaging	Het
Mlxipl	T	C	5: 135,132,672	Y482H	probably damaging	Het
Notch2	G	T	3: 98,104,565	C633F	probably damaging	Het
Oc90	T	C	15: 65,887,608	D232G	probably benign	Het
Olfr1453	T	C	19: 13,027,825	E168G	probably benign	Het
Polr2a	T	C	11: 69,735,059	Y1717C	unknown	Het
Prkca	T	A	11: 107,939,602	I221F	probably damaging	Het
Rab3c	T	A	13: 110,084,194	K144N	probably damaging	Het
Ryr2	T	A	13: 11,918,414	N57I	probably damaging	Het
Scyl3	A	G	1: 163,936,499	T145A	possibly damaging	Het
Sept4	G	A	11: 87,585,121	R162Q	probably damaging	Het
Slc25a39	A	T	11: 102,405,024	L127H	probably damaging	Het
Slc9a9	T	C	9: 94,685,163	V95A	probably benign	Het
Tsc2	T	C	17: 24,625,281	I279V	probably damaging	Het
Usp34	C	T	11: 23,489,033	P3532S	possibly damaging	Het
Vmn2r6	T	C	3: 64,556,472	I314V	probably benign	Het
Wdr66	A	G	5: 123,322,454	I1160V	probably benign	Het

Other mutations in Iws1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Iws1	APN	18	32084688	missense	probably benign	0.07
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
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

Predicted Primers

PCR Primer
(F):5'- ACTGTTTCGTGTGCTGCATC -3'
(R):5'- CTTCGGATGACCAGACTATCCC -3'

Sequencing Primer
(F):5'- AGCATTTATACGAGCATTCTCTTG -3'
(R):5'- TCGGATGACCAGACTATCCCTACTC -3'

Posted On

2015-04-29