Mutagenetix > Incidental Mutation

Incidental Mutation 'R7714:Iws1'

594818

Institutional Source

Beutler Lab

Gene Symbol

Iws1

Ensembl Gene

ENSMUSG00000024384

Gene Name

IWS1, SUPT6 interacting protein

Synonyms

1700069O15Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R7714 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32067741-32104328 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32090515 bp (GRCm38)

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]

AlphaFold

Q8C1D8

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

Meta Mutation Damage Score

0.0603

Coding Region Coverage

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

Validation Efficiency

97% (63/65)

Allele List at MGI

Other mutations in this stock

Total: 66 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
Lamc3	T	A	2: 31,922,267		probably null	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
R8218:Iws1	UTSW	18	32093635	missense	probably benign	0.00
R8229:Iws1	UTSW	18	32084687	missense	probably benign
R8728:Iws1	UTSW	18	32083281	missense	probably damaging	1.00
R8987:Iws1	UTSW	18	32093592	missense	possibly damaging	0.60
R9096:Iws1	UTSW	18	32083320	missense	probably benign
R9187:Iws1	UTSW	18	32080160	missense	possibly damaging	0.68
R9188:Iws1	UTSW	18	32080160	missense	possibly damaging	0.68
R9189:Iws1	UTSW	18	32080160	missense	possibly damaging	0.68
R9190:Iws1	UTSW	18	32080160	missense	possibly damaging	0.68
R9284:Iws1	UTSW	18	32080160	missense	possibly damaging	0.68
R9302:Iws1	UTSW	18	32080160	missense	possibly damaging	0.68
R9351:Iws1	UTSW	18	32080160	missense	possibly damaging	0.68
R9352:Iws1	UTSW	18	32080160	missense	possibly damaging	0.68
R9572:Iws1	UTSW	18	32070204	missense	probably damaging	1.00
R9703:Iws1	UTSW	18	32079685	missense	probably damaging	0.99
R9758:Iws1	UTSW	18	32083294	missense	probably damaging	1.00

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