Mutagenetix > Incidental Mutation

Incidental Mutation 'R0352:Iws1'

29734

Institutional Source

Beutler Lab

Gene Symbol

Iws1

Ensembl Gene

ENSMUSG00000024384

Gene Name

IWS1, SUPT6 interacting protein

Synonyms

1700069O15Rik

MMRRC Submission

038558-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R0352 (G1)

Quality Score

210

Status

Validated

Chromosome

Chromosomal Location

32200794-32237381 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32217258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 426 (E426G)

Ref Sequence

ENSEMBL: ENSMUSP00000148514 (fasta)

Gene Model

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

AlphaFold

Q8C1D8

Predicted Effect

probably damaging
Transcript: ENSMUST00000025243
AA Change: E426G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025243
Gene: ENSMUSG00000024384
AA Change: E426G

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 damaging
Transcript: ENSMUST00000212675
AA Change: E426G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

unknown
Transcript: ENSMUST00000213074
AA Change: E73G

Meta Mutation Damage Score

0.1019

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.4%
20x: 90.0%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	T	12: 71,184,804 (GRCm39)	T64M	possibly damaging	Het
3110040N11Rik	G	T	7: 81,438,208 (GRCm39)	N49K	probably benign	Het
Adrb1	T	A	19: 56,711,293 (GRCm39)	F164I	probably damaging	Het
Aplf	C	T	6: 87,630,866 (GRCm39)	V190I	probably benign	Het
Aqr	A	G	2: 114,000,533 (GRCm39)	Y50H	probably damaging	Het
Arfgef3	A	C	10: 18,537,135 (GRCm39)	I182R	probably benign	Het
Cacna1b	G	A	2: 24,515,244 (GRCm39)		probably benign	Het
Casp9	A	G	4: 141,532,841 (GRCm39)	T246A	probably damaging	Het
Clcn6	A	G	4: 148,099,063 (GRCm39)	S427P	probably damaging	Het
Cnga1	T	C	5: 72,761,846 (GRCm39)	N556S	possibly damaging	Het
Cntnap2	G	A	6: 45,969,018 (GRCm39)		probably null	Het
Col11a2	T	G	17: 34,261,501 (GRCm39)	V120G	probably benign	Het
Cux2	A	C	5: 122,022,802 (GRCm39)		probably benign	Het
Dmrt2	T	C	19: 25,656,026 (GRCm39)	S542P	probably damaging	Het
Dnah7b	A	G	1: 46,316,286 (GRCm39)	H3133R	probably damaging	Het
Drosha	G	A	15: 12,837,374 (GRCm39)	R286Q	unknown	Het
Eipr1	A	G	12: 28,816,784 (GRCm39)	D47G	probably damaging	Het
Fras1	T	G	5: 96,874,399 (GRCm39)	Y2275D	probably damaging	Het
Grm4	C	T	17: 27,670,865 (GRCm39)		probably benign	Het
Hebp1	A	G	6: 135,129,918 (GRCm39)	V100A	possibly damaging	Het
Hivep2	G	A	10: 14,019,039 (GRCm39)	V1937I	possibly damaging	Het
Hs3st6	T	C	17: 24,977,168 (GRCm39)	V216A	probably damaging	Het
Hsd17b4	T	C	18: 50,324,851 (GRCm39)	I688T	probably benign	Het
Hydin	T	C	8: 111,296,533 (GRCm39)		probably null	Het
Klrb1f	T	C	6: 129,030,680 (GRCm39)	S64P	probably damaging	Het
Lacc1	C	T	14: 77,272,629 (GRCm39)	G56R	probably damaging	Het
Lcmt2	A	G	2: 120,969,377 (GRCm39)	S569P	probably benign	Het
Lipm	C	T	19: 34,090,275 (GRCm39)		probably benign	Het
Lum	A	G	10: 97,404,471 (GRCm39)	H122R	probably damaging	Het
Magi2	A	G	5: 20,270,664 (GRCm39)	Y15C	probably damaging	Het
Mal	A	T	2: 127,482,286 (GRCm39)	I39N	probably damaging	Het
Mgme1	A	G	2: 144,118,319 (GRCm39)	H197R	probably benign	Het
Mmrn1	A	T	6: 60,921,955 (GRCm39)	K137N	probably benign	Het
Myh3	T	A	11: 66,981,254 (GRCm39)	C706S	possibly damaging	Het
Myo18b	A	T	5: 113,022,389 (GRCm39)		probably benign	Het
Myom1	A	G	17: 71,352,744 (GRCm39)	E356G	possibly damaging	Het
Nfib	A	G	4: 82,422,954 (GRCm39)		probably benign	Het
Npc1l1	T	C	11: 6,173,076 (GRCm39)	M788V	probably benign	Het
Or9a2	C	T	6: 41,749,058 (GRCm39)	M58I	probably damaging	Het
Pdha2	A	G	3: 140,917,457 (GRCm39)	V17A	probably benign	Het
Pgap1	A	T	1: 54,525,617 (GRCm39)		probably benign	Het
Polr1a	G	T	6: 71,897,747 (GRCm39)		probably benign	Het
Ppp1r16a	C	T	15: 76,574,999 (GRCm39)		probably benign	Het
Pramel20	A	T	4: 143,297,878 (GRCm39)		probably benign	Het
Pramel21	A	T	4: 143,342,559 (GRCm39)	D222V	possibly damaging	Het
Prmt2	A	T	10: 76,044,337 (GRCm39)	V405D	possibly damaging	Het
Psg26	T	A	7: 18,209,181 (GRCm39)	Y409F	probably benign	Het
Psme3ip1	A	G	8: 95,314,639 (GRCm39)	F73S	probably damaging	Het
Ptges	G	T	2: 30,793,144 (GRCm39)	Y29*	probably null	Het
Ptrhd1	A	G	12: 4,286,399 (GRCm39)	T97A	probably benign	Het
Ripk3	T	A	14: 56,024,200 (GRCm39)		probably benign	Het
Rnf114	A	T	2: 167,353,136 (GRCm39)	I136F	probably benign	Het
Serinc5	A	G	13: 92,844,497 (GRCm39)		probably null	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc23a2	C	A	2: 131,902,716 (GRCm39)	M495I	probably benign	Het
Slc52a3	T	A	2: 151,849,433 (GRCm39)	L360*	probably null	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Syt5	A	G	7: 4,544,170 (GRCm39)	V290A	probably benign	Het
Szt2	G	A	4: 118,239,790 (GRCm39)	A1931V	unknown	Het
Tasp1	A	G	2: 139,793,378 (GRCm39)		probably null	Het
Tcp10a	C	A	17: 7,593,805 (GRCm39)	D43E	probably damaging	Het
Tnfsf11	A	T	14: 78,516,408 (GRCm39)	Y187N	probably benign	Het
Tppp2	T	A	14: 52,156,807 (GRCm39)	N61K	possibly damaging	Het
Wwtr1	A	T	3: 57,482,548 (GRCm39)	W100R	probably damaging	Het
Zfp623	A	G	15: 75,820,433 (GRCm39)	D463G	probably benign	Het
Zfp990	A	G	4: 145,263,174 (GRCm39)	I57M	probably damaging	Het
Zmat5	G	A	11: 4,672,413 (GRCm39)	C10Y	probably damaging	Het

Other mutations in Iws1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Iws1	APN	18	32,217,741 (GRCm39)	missense	probably benign	0.07
IGL01432:Iws1	APN	18	32,216,519 (GRCm39)	splice site	probably benign
IGL01647:Iws1	APN	18	32,230,275 (GRCm39)	nonsense	probably null
IGL02054:Iws1	APN	18	32,223,595 (GRCm39)	critical splice donor site	probably null
IGL02189:Iws1	APN	18	32,226,178 (GRCm39)	missense	probably damaging	1.00
IGL02664:Iws1	APN	18	32,203,217 (GRCm39)	missense	possibly damaging	0.81
IGL03384:Iws1	APN	18	32,226,203 (GRCm39)	missense	probably damaging	1.00
IGL03394:Iws1	APN	18	32,221,301 (GRCm39)	splice site	probably benign
R1385:Iws1	UTSW	18	32,223,483 (GRCm39)	missense	probably benign	0.03
R1486:Iws1	UTSW	18	32,230,309 (GRCm39)	missense	probably damaging	1.00
R1526:Iws1	UTSW	18	32,213,178 (GRCm39)	missense	probably benign	0.00
R1529:Iws1	UTSW	18	32,213,334 (GRCm39)	missense	probably benign
R2094:Iws1	UTSW	18	32,217,719 (GRCm39)	missense	probably damaging	1.00
R3774:Iws1	UTSW	18	32,213,048 (GRCm39)	missense	probably damaging	1.00
R3907:Iws1	UTSW	18	32,212,973 (GRCm39)	missense	possibly damaging	0.93
R4018:Iws1	UTSW	18	32,203,205 (GRCm39)	nonsense	probably null
R4423:Iws1	UTSW	18	32,216,503 (GRCm39)	missense	probably damaging	1.00
R4703:Iws1	UTSW	18	32,213,066 (GRCm39)	missense	probably benign	0.19
R4979:Iws1	UTSW	18	32,226,320 (GRCm39)	unclassified	probably benign
R5228:Iws1	UTSW	18	32,221,314 (GRCm39)	missense	probably damaging	1.00
R5352:Iws1	UTSW	18	32,216,457 (GRCm39)	missense	probably damaging	1.00
R6428:Iws1	UTSW	18	32,219,343 (GRCm39)	missense	probably damaging	1.00
R6846:Iws1	UTSW	18	32,219,326 (GRCm39)	unclassified	probably benign
R6892:Iws1	UTSW	18	32,219,327 (GRCm39)	missense	probably damaging	0.99
R7163:Iws1	UTSW	18	32,226,277 (GRCm39)	missense	possibly damaging	0.80
R7540:Iws1	UTSW	18	32,213,536 (GRCm39)	missense	possibly damaging	0.94
R7605:Iws1	UTSW	18	32,222,540 (GRCm39)	missense	probably benign	0.01
R7714:Iws1	UTSW	18	32,223,568 (GRCm39)	missense	probably benign	0.00
R8218:Iws1	UTSW	18	32,226,688 (GRCm39)	missense	probably benign	0.00
R8229:Iws1	UTSW	18	32,217,740 (GRCm39)	missense	probably benign
R8728:Iws1	UTSW	18	32,216,334 (GRCm39)	missense	probably damaging	1.00
R8987:Iws1	UTSW	18	32,226,645 (GRCm39)	missense	possibly damaging	0.60
R9096:Iws1	UTSW	18	32,216,373 (GRCm39)	missense	probably benign
R9187:Iws1	UTSW	18	32,213,213 (GRCm39)	missense	possibly damaging	0.68
R9188:Iws1	UTSW	18	32,213,213 (GRCm39)	missense	possibly damaging	0.68
R9189:Iws1	UTSW	18	32,213,213 (GRCm39)	missense	possibly damaging	0.68
R9190:Iws1	UTSW	18	32,213,213 (GRCm39)	missense	possibly damaging	0.68
R9284:Iws1	UTSW	18	32,213,213 (GRCm39)	missense	possibly damaging	0.68
R9302:Iws1	UTSW	18	32,213,213 (GRCm39)	missense	possibly damaging	0.68
R9351:Iws1	UTSW	18	32,213,213 (GRCm39)	missense	possibly damaging	0.68
R9352:Iws1	UTSW	18	32,213,213 (GRCm39)	missense	possibly damaging	0.68
R9572:Iws1	UTSW	18	32,203,257 (GRCm39)	missense	probably damaging	1.00
R9703:Iws1	UTSW	18	32,212,738 (GRCm39)	missense	probably damaging	0.99
R9758:Iws1	UTSW	18	32,216,347 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTAAGGTCTGCACATTTTGCTG -3'
(R):5'- AGCACGTTCATGATCTAGGGTCTCC -3'

Sequencing Primer
(F):5'- cacaccagaagagggcatc -3'
(R):5'- AGGGTCTCCTTTTATTATCTCTATGC -3'

Posted On

2013-04-24