Mutagenetix > Incidental Mutation

Incidental Mutation 'R9572:Iws1'

722086

Institutional Source

Beutler Lab

Gene Symbol

Iws1

Ensembl Gene

ENSMUSG00000024384

Gene Name

IWS1, SUPT6 interacting protein

Synonyms

1700069O15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R9572 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32200794-32237381 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32203257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 44 (S44R)

Ref Sequence

ENSEMBL: ENSMUSP00000025243 (fasta)

Gene Model

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

AlphaFold

Q8C1D8

Predicted Effect

probably damaging
Transcript: ENSMUST00000025243
AA Change: S44R

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

SMART Domains

Protein: ENSMUSP00000025243
Gene: ENSMUSG00000024384
AA Change: S44R

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 damaging
Transcript: ENSMUST00000212675
AA Change: S44R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	C	7: 78,748,477 (GRCm39)	S1083P	probably damaging	Het
Aldh6a1	C	A	12: 84,487,017 (GRCm39)	R140L	probably damaging	Het
Aldoart1	T	A	4: 72,770,770 (GRCm39)	M13L	probably benign	Het
Anapc1	G	T	2: 128,505,976 (GRCm39)	T620K	probably benign	Het
Ano1	T	A	7: 144,204,293 (GRCm39)		probably null	Het
Apol9a	C	T	15: 77,288,804 (GRCm39)	A188T	probably benign	Het
Ash1l	A	G	3: 88,960,188 (GRCm39)	K2307E	probably damaging	Het
Astn2	A	T	4: 65,299,872 (GRCm39)	S1292R	unknown	Het
Asxl3	T	A	18: 22,649,112 (GRCm39)	V367D	probably benign	Het
B3gnt7	T	A	1: 86,233,492 (GRCm39)	L246Q	probably damaging	Het
B4gat1	T	G	19: 5,089,474 (GRCm39)	L157R	probably damaging	Het
Bag4	A	T	8: 26,258,303 (GRCm39)	Y341*	probably null	Het
Bccip	G	A	7: 133,322,478 (GRCm39)	D275N	probably damaging	Het
Cd109	T	A	9: 78,567,588 (GRCm39)	F267I	probably benign	Het
Cfap221	T	A	1: 119,873,566 (GRCm39)	D487V	probably damaging	Het
Chpt1	T	C	10: 88,316,806 (GRCm39)	I217M	probably damaging	Het
Clock	T	C	5: 76,377,338 (GRCm39)	T654A	probably benign	Het
Ctsr	A	G	13: 61,310,978 (GRCm39)	S23P	probably benign	Het
Dst	T	A	1: 34,250,252 (GRCm39)	Y2055N	probably damaging	Het
F7	A	T	8: 13,083,953 (GRCm39)	I213F	probably benign	Het
Grb14	A	G	2: 64,763,680 (GRCm39)	Y232H	probably damaging	Het
Gsg1l2	A	G	11: 67,677,301 (GRCm39)	N190S	probably benign	Het
Hrnr	A	G	3: 93,239,467 (GRCm39)	Y3235C	unknown	Het
Kif26b	A	T	1: 178,745,042 (GRCm39)	T1713S	probably benign	Het
Lama4	C	T	10: 38,959,271 (GRCm39)	R1230C	probably damaging	Het
Lrrcc1	G	A	3: 14,601,148 (GRCm39)	W60*	probably null	Het
Mcur1	A	G	13: 43,713,433 (GRCm39)	F57S	probably benign	Het
Mrc1	T	C	2: 14,234,334 (GRCm39)	L4P	probably benign	Het
Msh5	T	C	17: 35,250,369 (GRCm39)	Y548C	probably damaging	Het
Naip5	T	C	13: 100,359,821 (GRCm39)	T472A	probably benign	Het
Nckap5	T	A	1: 125,955,454 (GRCm39)	N366I	probably benign	Het
Nr4a3	T	A	4: 48,051,258 (GRCm39)	V4E	probably damaging	Het
Nuak1	C	A	10: 84,228,179 (GRCm39)	V175L	probably damaging	Het
Or2ag13	A	G	7: 106,313,546 (GRCm39)	L114P	probably damaging	Het
Or5b106	T	A	19: 13,123,928 (GRCm39)	I32F	possibly damaging	Het
Or5w1	A	G	2: 87,486,914 (GRCm39)	V117A	probably benign	Het
Or8b49	A	T	9: 38,505,627 (GRCm39)	I37L	probably benign	Het
Phactr2	C	T	10: 13,264,561 (GRCm39)		probably benign	Het
Pomk	T	C	8: 26,472,936 (GRCm39)	D339G	possibly damaging	Het
Ppp2r5e	A	T	12: 75,562,468 (GRCm39)	Y88N	probably benign	Het
Ptma	T	A	1: 86,457,697 (GRCm39)	V100E	unknown	Het
Rab3b	T	C	4: 108,786,725 (GRCm39)		probably null	Het
Rp1	G	A	1: 4,418,662 (GRCm39)	H817Y	probably benign	Het
Rpn1	T	A	6: 88,078,994 (GRCm39)	I479N	probably damaging	Het
Sdk1	G	A	5: 141,595,784 (GRCm39)	G147R	probably damaging	Het
Serpina3i	C	A	12: 104,234,743 (GRCm39)	T358K	probably damaging	Het
Siglecf	A	G	7: 43,002,058 (GRCm39)	K231R	possibly damaging	Het
Skint6	C	T	4: 112,985,128 (GRCm39)	V413I	probably benign	Het
Spata7	T	C	12: 98,614,655 (GRCm39)	C96R	probably damaging	Het
Sptbn4	A	T	7: 27,066,095 (GRCm39)	V1991E	probably benign	Het
Sstr2	A	G	11: 113,516,017 (GRCm39)	Y312C	probably damaging	Het
Taco1	T	A	11: 105,963,938 (GRCm39)	D232E	possibly damaging	Het
Tcerg1l	C	T	7: 137,881,787 (GRCm39)	A301T	probably benign	Het
Tmub2	T	A	11: 102,176,541 (GRCm39)	M11K		Het
Trpc6	T	A	9: 8,656,622 (GRCm39)	V761D	possibly damaging	Het
Ttll13	A	T	7: 79,908,008 (GRCm39)	N510I	probably benign	Het
Vcpip1	T	C	1: 9,816,770 (GRCm39)	N538D	possibly damaging	Het
Vmn2r100	A	T	17: 19,741,513 (GRCm39)	Y75F	probably benign	Het
Vwa5a	A	G	9: 38,649,239 (GRCm39)	I662M	probably benign	Het
Xkr5	A	G	8: 18,984,166 (GRCm39)	S459P	probably benign	Het
Zfp106	G	A	2: 120,349,559 (GRCm39)	T1644I	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
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
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'- AGAACCTTTGCCCAGTTTAACTG -3'
(R):5'- AGCATAGCTGAAAACTGCCTAG -3'

Sequencing Primer
(F):5'- TGCCCAGTTTAACTGTAGATGC -3'
(R):5'- AGCTGAAAACTGCCTAGTATTTG -3'

Posted On

2022-08-09