Mutagenetix > Incidental Mutation

Incidental Mutation 'R9096:Iws1'

691382

Institutional Source

Beutler Lab

Gene Symbol

Iws1

Ensembl Gene

ENSMUSG00000024384

Gene Name

IWS1, SUPT6 interacting protein

Synonyms

1700069O15Rik

MMRRC Submission

068911-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R9096 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32200794-32237381 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32216373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 371 (V371A)

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: V371A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025243
Gene: ENSMUSG00000024384
AA Change: V371A

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: ENSMUST00000212458

Predicted Effect

probably benign
Transcript: ENSMUST00000212675
AA Change: V371A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

unknown
Transcript: ENSMUST00000213074
AA Change: V18A

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	T	5: 113,339,793 (GRCm39)	V73E		Het
Abhd12b	T	A	12: 70,210,207 (GRCm39)	Y128N	probably damaging	Het
Arhgap40	A	T	2: 158,389,584 (GRCm39)	M586L	probably benign	Het
Armt1	T	C	10: 4,384,829 (GRCm39)	S15P	probably damaging	Het
Arnt	G	T	3: 95,397,588 (GRCm39)	S535I	probably benign	Het
Bmper	T	C	9: 23,134,988 (GRCm39)	S18P	possibly damaging	Het
Catsperg1	G	C	7: 28,884,152 (GRCm39)	T987R	probably damaging	Het
Col9a1	A	T	1: 24,224,207 (GRCm39)	I130F	unknown	Het
Dennd1a	G	T	2: 37,690,077 (GRCm39)	L1008I	probably damaging	Het
Depdc1a	T	A	3: 159,204,117 (GRCm39)	D55E	probably benign	Het
Dlc1	A	T	8: 37,080,721 (GRCm39)	I10N	probably benign	Het
Dnah1	T	A	14: 30,983,027 (GRCm39)	I4203F	probably damaging	Het
Dzank1	G	T	2: 144,316,882 (GRCm39)	L767I	possibly damaging	Het
Eprs1	C	A	1: 185,139,303 (GRCm39)	A896E	probably benign	Het
Fryl	T	C	5: 73,265,920 (GRCm39)	D467G	probably benign	Het
Gab3	TTC	TTCCTC	X: 74,043,610 (GRCm39)		probably benign	Het
Gimd1	T	A	3: 132,340,661 (GRCm39)	M59K	probably benign	Het
Gm3667	T	C	14: 18,270,388 (GRCm39)	Y139C	probably damaging	Het
Gng2	T	A	14: 19,941,471 (GRCm39)		probably null	Het
Gpr162	A	G	6: 124,836,570 (GRCm39)	I367T	probably benign	Het
Hacd4	A	G	4: 88,355,695 (GRCm39)		probably null	Het
Hmcn1	C	T	1: 150,532,869 (GRCm39)	V3105M	probably benign	Het
Kctd10	C	T	5: 114,508,232 (GRCm39)	R92Q	probably damaging	Het
Lepr	T	C	4: 101,631,418 (GRCm39)	F643L	possibly damaging	Het
Lpgat1	T	C	1: 191,451,569 (GRCm39)	V65A	possibly damaging	Het
Lrrk2	C	T	15: 91,557,459 (GRCm39)		probably benign	Het
Magel2	A	G	7: 62,030,297 (GRCm39)	D1067G	unknown	Het
Mrc2	A	G	11: 105,231,398 (GRCm39)	D777G	probably damaging	Het
Nol10	T	A	12: 17,466,199 (GRCm39)	D531E	probably benign	Het
Odf2	T	A	2: 29,783,508 (GRCm39)	V103D	probably damaging	Het
Or4f7	T	A	2: 111,644,196 (GRCm39)	K292*	probably null	Het
Pcdhb21	A	G	18: 37,648,071 (GRCm39)	Y400C	probably damaging	Het
Pkn2	C	T	3: 142,515,249 (GRCm39)	R695Q	probably benign	Het
Pld3	A	G	7: 27,232,089 (GRCm39)	V397A	probably benign	Het
Ppp1r9a	A	G	6: 4,906,012 (GRCm39)	D189G	probably damaging	Het
Ppp2r1b	A	G	9: 50,777,856 (GRCm39)	K267R	probably benign	Het
Prkca	A	G	11: 107,905,061 (GRCm39)	S226P	probably benign	Het
Ptpru	T	C	4: 131,499,843 (GRCm39)	N1267S	probably damaging	Het
Pxn	T	A	5: 115,686,680 (GRCm39)	C391S	probably benign	Het
Rars1	T	C	11: 35,718,256 (GRCm39)	E136G	probably benign	Het
Rrp12	A	T	19: 41,878,577 (GRCm39)	D189E	probably benign	Het
Rsf1	GCG	GCGACGGCGCCG	7: 97,229,114 (GRCm39)		probably benign	Het
Sdc1	T	C	12: 8,841,665 (GRCm39)	L265P	probably damaging	Het
Sycp2l	A	T	13: 41,300,070 (GRCm39)	D428V	possibly damaging	Het
Tasp1	A	T	2: 139,725,690 (GRCm39)		probably null	Het
Telo2	T	C	17: 25,324,066 (GRCm39)	T550A	probably benign	Het
Tmem131l	A	T	3: 83,850,122 (GRCm39)	N225K	probably damaging	Het
Tmem260	T	A	14: 48,757,803 (GRCm39)	V706D	unknown	Het
Tnr	T	A	1: 159,677,804 (GRCm39)	M63K	probably benign	Het
Ttn	A	G	2: 76,572,413 (GRCm39)	I26160T	probably damaging	Het
Ubap1	T	C	4: 41,379,872 (GRCm39)		probably null	Het
Ush2a	C	T	1: 188,198,333 (GRCm39)	P1466S	probably benign	Het
Usp24	T	G	4: 106,254,508 (GRCm39)	M1495R	probably benign	Het
Utp20	T	C	10: 88,611,180 (GRCm39)	N1379S	probably damaging	Het
Vmn1r16	A	T	6: 57,300,250 (GRCm39)	I124N	probably benign	Het
Vmn1r181	A	G	7: 23,684,444 (GRCm39)	N303S	probably benign	Het
Vmn1r50	G	A	6: 90,085,022 (GRCm39)	V256I	probably benign	Het
Vps54	A	G	11: 21,227,913 (GRCm39)	N288S	possibly damaging	Het
Zfp266	A	T	9: 20,416,440 (GRCm39)	F50Y	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
R0352:Iws1	UTSW	18	32,217,258 (GRCm39)	missense	probably damaging	1.00
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
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'- GGAGATTGCTAGTTCTGTGCAC -3'
(R):5'- ACTCCTGACGATCCCTTGAAAG -3'

Sequencing Primer
(F):5'- CACTGGAGATGGTCAGTTGAATTTTC -3'
(R):5'- TGAAAGCCCCCATGTTCG -3'

Posted On

2021-12-30