Mutagenetix > Incidental Mutations

Incidental Mutation 'R7714:Iws1'

594818

Institutional Source

Beutler Lab

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: 0.952) question?

Stock #

R7714 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32067741-32104328 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32090515 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 659 (M659L)

Ref Sequence

ENSEMBL: ENSMUSP00000025243 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000025243
AA Change: M659L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000025243
Gene: ENSMUSG00000024384
AA Change: M659L

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

probably benign
Transcript: ENSMUST00000212675
AA Change: M659L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000213074

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810011H11Rik	A	G	14: 32,805,172	E32G	possibly damaging	Het
2010300C02Rik	T	A	1: 37,624,777	Q680L	probably benign	Het
Adam22	A	G	5: 8,117,587		probably null	Het
Agrn	C	A	4: 156,195,397	D106Y	probably damaging	Het
Arfgap3	A	T	15: 83,308,151	Y416N	probably benign	Het
Atp6v0a2	C	T	5: 124,637,595	T135M	probably damaging	Het
Bach1	C	A	16: 87,718,848	Y92*	probably null	Het
Catsperg1	A	C	7: 29,185,482	C905G	probably null	Het
Cbr2	T	C	11: 120,729,802	I219V	probably benign	Het
Ccdc3	A	T	2: 5,229,097	K244I	probably damaging	Het
Cd226	T	C	18: 89,247,309	V237A	probably damaging	Het
Chek2	T	C	5: 110,841,453	C81R	probably benign	Het
Col27a1	T	C	4: 63,324,486		probably null	Het
Crybg3	A	T	16: 59,558,873	S673T	probably benign	Het
Csmd2	T	A	4: 128,382,950	Y848*	probably null	Het
Dgkb	C	A	12: 38,630,593	T764K	probably damaging	Het
Dock4	T	A	12: 40,725,649	C530*	probably null	Het
Dpyd	A	G	3: 118,804,131	K254R	probably benign	Het
Dstyk	C	T	1: 132,456,876	P703S	possibly damaging	Het
Ehhadh	A	T	16: 21,766,390	I247N	probably damaging	Het
Fer1l5	T	G	1: 36,401,477	L597R	probably damaging	Het
Fignl1	T	C	11: 11,802,842	E71G	probably damaging	Het
Fnip2	A	C	3: 79,518,114	V58G	probably damaging	Het
Gapdhs	A	T	7: 30,731,924	I377N	probably damaging	Het
Gcn1l1	C	T	5: 115,595,300	A1059V	probably damaging	Het
Gm884	T	C	11: 103,616,893	I1416M	unknown	Het
Gpd1	G	A	15: 99,722,086	S255N	probably damaging	Het
Grik2	A	C	10: 49,419,696	I392S	probably damaging	Het
Hoxb3	T	C	11: 96,345,780	L228P	probably damaging	Het
Kmt2c	A	G	5: 25,375,366	C570R	probably benign	Het
Lipf	G	A	19: 33,965,648	G119R	probably damaging	Het
Magel2	A	T	7: 62,378,382	I345L	probably benign	Het
Mdn1	G	A	4: 32,722,360	A2381T	possibly damaging	Het
Med12l	T	C	3: 59,093,586	V690A	probably benign	Het
Megf10	GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA	GGCAGCAACAGCACCAGCAGCA	18: 57,293,999		probably benign	Het
Mob3b	A	G	4: 35,083,872	Y106H	probably damaging	Het
Myo1c	T	C	11: 75,658,693	Y166H	probably damaging	Het
Ndst4	A	T	3: 125,570,844	H390L	probably benign	Het
Nt5c1b	T	A	12: 10,375,472	N280K	probably damaging	Het
Olfr1471	A	T	19: 13,445,888	N292I	probably damaging	Het
Olfr433	G	A	1: 174,042,334	R128H	probably benign	Het
Otof	A	G	5: 30,370,253	F1947L	probably damaging	Het
Pabpc4	G	A	4: 123,295,309	A481T	probably benign	Het
Parm1	C	T	5: 91,593,932	T53I	possibly damaging	Het
Pilra	C	T	5: 137,835,417	R129Q	probably benign	Het
Pkd1	C	T	17: 24,550,276	A5V	unknown	Het
Pmch	T	C	10: 88,091,380	S82P	probably benign	Het
Prf1	G	A	10: 61,300,155	R70H	possibly damaging	Het
Rad51c	T	C	11: 87,401,450	S180G	probably benign	Het
Rassf8	A	C	6: 145,815,247	T100P	probably damaging	Het
Rnpepl1	A	G	1: 92,917,168	E394G	probably damaging	Het
Rufy2	T	A	10: 63,002,993	V418E	probably benign	Het
Sdad1	A	T	5: 92,302,679	V199D	probably damaging	Het
Sptbn4	A	T	7: 27,364,336	S2227T	probably benign	Het
Tac4	A	G	11: 95,265,290	M66V	probably benign	Het
Tas2r126	T	C	6: 42,435,097	V188A	probably benign	Het
Tcerg1	T	C	18: 42,560,935	V707A	possibly damaging	Het
Trav13-4-dv7	G	A	14: 53,757,898	G103D	probably damaging	Het
Trav8d-1	A	G	14: 52,778,923	S89G	probably benign	Het
Ttll4	C	T	1: 74,679,413	S141L	probably benign	Het
Vash1	T	C	12: 86,691,840	S354P	probably benign	Het
Vmn2r40	T	A	7: 8,908,117	I726F		Het
Vmn2r53	A	C	7: 12,606,491	N18K	probably damaging	Het
Wnt6	T	C	1: 74,784,263	F253S	probably damaging	Het
Zfp599	A	G	9: 22,250,515	I118T	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
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

Predicted Primers

PCR Primer
(F):5'- TCCCATGTGCCACATTTAAGAAAG -3'
(R):5'- AACTGGGCTGAGAAAGTTGTTTTC -3'

Sequencing Primer
(F):5'- GTGCCACATTTAAGAAAGAAATACTC -3'
(R):5'- TTCTGCAAATGTCTAGAACACTACC -3'

Posted On

2019-11-12