Mutagenetix > Incidental Mutation

Incidental Mutation 'R4864:Iqsec1'

374743

Institutional Source

Beutler Lab

Gene Symbol

Iqsec1

Ensembl Gene

ENSMUSG00000034312

Gene Name

IQ motif and Sec7 domain 1

Synonyms

cI-43, BRAG2, D6Ertd349e

MMRRC Submission

042474-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

R4864 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90636578-90965766 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 90641038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 1026 (R1026H)

Ref Sequence

ENSEMBL: ENSMUSP00000148669 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101151] [ENSMUST00000101153] [ENSMUST00000212100]

AlphaFold

Q8R0S2

Predicted Effect

probably damaging
Transcript: ENSMUST00000101151
AA Change: R922H

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

SMART Domains

Protein: ENSMUSP00000098710
Gene: ENSMUSG00000034312
AA Change: R922H

Domain	Start	End	E-Value	Type
low complexity region	57	68	N/A	INTRINSIC
Blast:Sec7	69	369	6e-39	BLAST
low complexity region	370	389	N/A	INTRINSIC
low complexity region	396	430	N/A	INTRINSIC
low complexity region	450	481	N/A	INTRINSIC
Sec7	505	696	1.31e-95	SMART
PH	737	848	2.39e-2	SMART
low complexity region	901	914	N/A	INTRINSIC
low complexity region	963	976	N/A	INTRINSIC
low complexity region	978	1000	N/A	INTRINSIC
low complexity region	1014	1060	N/A	INTRINSIC
low complexity region	1062	1094	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000101153
AA Change: R936H

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

SMART Domains

Protein: ENSMUSP00000098712
Gene: ENSMUSG00000034312
AA Change: R936H

Domain	Start	End	E-Value	Type
low complexity region	71	82	N/A	INTRINSIC
Blast:Sec7	83	383	4e-39	BLAST
low complexity region	384	403	N/A	INTRINSIC
low complexity region	410	444	N/A	INTRINSIC
low complexity region	464	495	N/A	INTRINSIC
Sec7	519	710	1.31e-95	SMART
PH	751	862	2.39e-2	SMART
low complexity region	915	928	N/A	INTRINSIC
low complexity region	948	957	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141434

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154198

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204983

Predicted Effect

probably damaging
Transcript: ENSMUST00000212100
AA Change: R1026H

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

Meta Mutation Damage Score

0.1548

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

99% (93/94)

MGI Phenotype

PHENOTYPE: Mice homozygous for a conditional allele activated in neurons fail to exhibit mGluR- and NMDAR-mediated long term depression. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	T	14: 64,210,658 (GRCm39)	R190H	probably benign	Het
Acp6	T	C	3: 97,066,683 (GRCm39)		probably null	Het
Adora3	T	A	3: 105,815,131 (GRCm39)	Y148N	probably damaging	Het
Ahnak2	G	A	12: 112,740,040 (GRCm39)	S538L	probably damaging	Het
Aox3	T	G	1: 58,215,646 (GRCm39)	V1026G	probably damaging	Het
Ap3d1	TTCTCTCTCTCTCTCTCT	TTCTCTCTCTCTCTCT	10: 80,548,612 (GRCm39)		probably null	Het
Arhgef37	G	A	18: 61,627,996 (GRCm39)	A649V	probably benign	Het
Atp5f1a	G	A	18: 77,869,015 (GRCm39)	R413H	possibly damaging	Het
Bace1	A	T	9: 45,766,109 (GRCm39)	I179F	probably damaging	Het
Brinp1	A	G	4: 68,717,123 (GRCm39)	F242L	probably damaging	Het
Brk1	T	C	6: 113,592,805 (GRCm39)	Y63H	possibly damaging	Het
Ccdc74a	A	G	16: 17,466,736 (GRCm39)	T148A	probably benign	Het
Cenpc1	T	A	5: 86,193,180 (GRCm39)	L236F	probably damaging	Het
Col13a1	C	T	10: 61,698,439 (GRCm39)	E541K	unknown	Het
Copg1	T	A	6: 87,866,678 (GRCm39)	C44S	probably damaging	Het
D130043K22Rik	A	G	13: 25,047,595 (GRCm39)	E380G	probably damaging	Het
Dchs1	T	C	7: 105,404,460 (GRCm39)	D2694G	probably damaging	Het
Dgkd	A	T	1: 87,844,560 (GRCm39)	N242I	possibly damaging	Het
Dnah2	C	T	11: 69,313,416 (GRCm39)	V4248I	probably damaging	Het
Dpy19l3	T	A	7: 35,411,607 (GRCm39)	K376*	probably null	Het
Eef1d	A	G	15: 75,775,255 (GRCm39)	S135P	possibly damaging	Het
Epc2	T	A	2: 49,427,177 (GRCm39)	S574T	probably benign	Het
Eps15	G	A	4: 109,223,727 (GRCm39)		probably benign	Het
Eps8	T	C	6: 137,455,967 (GRCm39)		probably benign	Het
Exoc5	A	T	14: 49,289,839 (GRCm39)	V13E	probably benign	Het
Fbn1	A	T	2: 125,214,317 (GRCm39)	C765S	possibly damaging	Het
Fbxo5	A	T	10: 5,752,392 (GRCm39)	C74S	probably benign	Het
Fbxw9	T	C	8: 85,792,530 (GRCm39)	S322P	probably damaging	Het
Fmo5	T	A	3: 97,553,195 (GRCm39)	I381N	probably damaging	Het
Fmo6	T	C	1: 162,751,964 (GRCm39)	D175G	probably benign	Het
Gm7361	A	G	5: 26,467,008 (GRCm39)		probably null	Het
Gm9961	G	A	16: 11,720,899 (GRCm39)		probably benign	Het
Golga7b	T	A	19: 42,255,405 (GRCm39)		probably null	Het
Gorab	T	C	1: 163,213,967 (GRCm39)	E321G	probably benign	Het
Gpx1	T	A	9: 108,216,594 (GRCm39)	V28E	probably benign	Het
H2-T15	T	A	17: 36,369,253 (GRCm39)		probably benign	Het
H3c14	T	C	3: 96,154,575 (GRCm39)	I125T	probably damaging	Het
Hk1	T	C	10: 62,178,318 (GRCm39)	S8G	probably benign	Het
Kdm4b	A	T	17: 56,660,091 (GRCm39)	Y86F	probably benign	Het
Kprp	C	T	3: 92,731,829 (GRCm39)	R407Q	unknown	Het
Lamb1	C	T	12: 31,371,005 (GRCm39)	T1400M	probably benign	Het
Lcor	G	T	19: 41,573,803 (GRCm39)	A853S	probably benign	Het
Lrriq3	T	A	3: 154,893,447 (GRCm39)	Y383N	possibly damaging	Het
Map3k21	T	C	8: 126,654,294 (GRCm39)	I371T	probably benign	Het
Mllt1	A	T	17: 57,212,819 (GRCm39)	F105I	probably damaging	Het
Nfatc2	A	G	2: 168,378,312 (GRCm39)	M451T	probably damaging	Het
Nfkbiz	A	C	16: 55,638,787 (GRCm39)	N224K	probably damaging	Het
Nlrp4d	A	G	7: 10,115,088 (GRCm39)	V531A	noncoding transcript	Het
Noc3l	A	G	19: 38,778,081 (GRCm39)	Y778H	probably benign	Het
Nup98	C	A	7: 101,802,403 (GRCm39)	A734S	possibly damaging	Het
Or2ag18	T	C	7: 106,405,171 (GRCm39)	Y166C	probably damaging	Het
Or4k2	T	A	14: 50,424,039 (GRCm39)	I212F	probably damaging	Het
Or9g20	A	G	2: 85,630,033 (GRCm39)	Y194H	probably damaging	Het
Or9r7	T	A	10: 129,962,756 (GRCm39)	R57*	probably null	Het
Pate4	A	T	9: 35,519,535 (GRCm39)	C52S	probably damaging	Het
Pecr	C	A	1: 72,316,490 (GRCm39)	A72S	probably benign	Het
Pomt1	A	G	2: 32,142,004 (GRCm39)	N578S	probably benign	Het
Ppm1a	T	C	12: 72,830,738 (GRCm39)	S88P	probably benign	Het
Ppm1l	T	A	3: 69,449,844 (GRCm39)		probably benign	Het
Prdm13	A	G	4: 21,685,543 (GRCm39)	S86P	unknown	Het
Prph2	T	C	17: 47,221,848 (GRCm39)	S76P	probably benign	Het
Sarnp	G	A	10: 128,669,212 (GRCm39)	R23H	probably damaging	Het
Septin1	T	C	7: 126,816,064 (GRCm39)		probably benign	Het
Serpini1	T	C	3: 75,520,481 (GRCm39)	I26T	probably benign	Het
Setdb2	A	G	14: 59,646,715 (GRCm39)	I616T	probably benign	Het
Slc2a10	T	C	2: 165,356,541 (GRCm39)	F67S	probably benign	Het
Slc38a6	T	A	12: 73,390,424 (GRCm39)		probably null	Het
Smg6	T	C	11: 74,820,988 (GRCm39)	S420P	possibly damaging	Het
Srp72	T	A	5: 77,132,009 (GRCm39)	H229Q	probably benign	Het
Ston2	A	G	12: 91,615,448 (GRCm39)	V320A	possibly damaging	Het
Stx3	A	T	19: 11,754,515 (GRCm39)	I269N	possibly damaging	Het
Tdg-ps	A	G	15: 82,400,843 (GRCm39)		noncoding transcript	Het
Tecpr1	T	A	5: 144,150,935 (GRCm39)	N291I	probably benign	Het
Tmem177	A	G	1: 119,838,553 (GRCm39)	V42A	probably benign	Het
Trim26	T	A	17: 37,168,886 (GRCm39)		probably benign	Het
Ttc17	A	G	2: 94,196,980 (GRCm39)	S456P	probably benign	Het
Tubgcp6	T	C	15: 88,988,021 (GRCm39)	Y984C	probably benign	Het
Unc5cl	A	G	17: 48,766,872 (GRCm39)	E82G	possibly damaging	Het
Uncx	T	C	5: 139,529,875 (GRCm39)	S43P	probably damaging	Het
Vmn1r1	A	G	1: 181,985,332 (GRCm39)	V111A	probably benign	Het
Vmn1r168	A	G	7: 23,240,907 (GRCm39)	I255V	probably damaging	Het
Vwce	A	G	19: 10,628,000 (GRCm39)	T487A	probably benign	Het
Xaf1	A	G	11: 72,197,682 (GRCm39)		probably benign	Het
Zfp27	G	T	7: 29,594,261 (GRCm39)	P568Q	probably damaging	Het
Zfp382	A	T	7: 29,832,885 (GRCm39)	I179F	possibly damaging	Het

Other mutations in Iqsec1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:Iqsec1	APN	6	90,666,685 (GRCm39)	missense	probably damaging	1.00
IGL01749:Iqsec1	APN	6	90,657,486 (GRCm39)	missense	probably benign	0.03
IGL01960:Iqsec1	APN	6	90,653,762 (GRCm39)	missense	probably damaging	1.00
IGL02007:Iqsec1	APN	6	90,667,331 (GRCm39)	missense	probably benign	0.37
IGL02045:Iqsec1	APN	6	90,641,051 (GRCm39)	missense	probably damaging	0.96
IGL02186:Iqsec1	APN	6	90,653,859 (GRCm39)	missense	probably damaging	1.00
IGL02211:Iqsec1	APN	6	90,648,591 (GRCm39)	missense	probably damaging	1.00
IGL02503:Iqsec1	APN	6	90,645,770 (GRCm39)	missense	probably damaging	1.00
IGL02506:Iqsec1	APN	6	90,649,057 (GRCm39)	missense	possibly damaging	0.94
IGL02554:Iqsec1	APN	6	90,646,327 (GRCm39)	missense	probably damaging	1.00
PIT4260001:Iqsec1	UTSW	6	90,667,471 (GRCm39)	missense	probably damaging	1.00
PIT4810001:Iqsec1	UTSW	6	90,647,473 (GRCm39)	missense	probably damaging	1.00
R0139:Iqsec1	UTSW	6	90,786,740 (GRCm39)	intron	probably benign
R0371:Iqsec1	UTSW	6	90,647,385 (GRCm39)	splice site	probably benign
R0617:Iqsec1	UTSW	6	90,666,952 (GRCm39)	missense	probably damaging	1.00
R0619:Iqsec1	UTSW	6	90,647,388 (GRCm39)	splice site	probably null
R1157:Iqsec1	UTSW	6	90,646,366 (GRCm39)	missense	possibly damaging	0.83
R1168:Iqsec1	UTSW	6	90,666,658 (GRCm39)	missense	probably damaging	1.00
R1190:Iqsec1	UTSW	6	90,666,659 (GRCm39)	missense	probably damaging	1.00
R1192:Iqsec1	UTSW	6	90,648,958 (GRCm39)	splice site	probably benign
R1435:Iqsec1	UTSW	6	90,649,006 (GRCm39)	missense	probably damaging	1.00
R1449:Iqsec1	UTSW	6	90,667,790 (GRCm39)	nonsense	probably null
R1697:Iqsec1	UTSW	6	90,786,752 (GRCm39)	nonsense	probably null
R1921:Iqsec1	UTSW	6	90,639,877 (GRCm39)	missense	probably benign	0.00
R1958:Iqsec1	UTSW	6	90,647,441 (GRCm39)	missense	probably damaging	1.00
R2017:Iqsec1	UTSW	6	90,666,912 (GRCm39)	missense	probably benign	0.02
R2082:Iqsec1	UTSW	6	90,671,556 (GRCm39)	missense	probably damaging	1.00
R2372:Iqsec1	UTSW	6	90,671,636 (GRCm39)	missense	probably damaging	1.00
R2442:Iqsec1	UTSW	6	90,666,865 (GRCm39)	missense	possibly damaging	0.52
R4120:Iqsec1	UTSW	6	90,639,584 (GRCm39)	nonsense	probably null
R4371:Iqsec1	UTSW	6	90,671,588 (GRCm39)	missense	probably damaging	1.00
R4645:Iqsec1	UTSW	6	90,644,995 (GRCm39)	missense	probably damaging	1.00
R5436:Iqsec1	UTSW	6	90,822,343 (GRCm39)	intron	probably benign
R5790:Iqsec1	UTSW	6	90,666,862 (GRCm39)	nonsense	probably null
R6007:Iqsec1	UTSW	6	90,637,969 (GRCm39)	nonsense	probably null
R6143:Iqsec1	UTSW	6	90,786,666 (GRCm39)	splice site	probably null
R6218:Iqsec1	UTSW	6	90,666,617 (GRCm39)	missense	probably damaging	1.00
R6972:Iqsec1	UTSW	6	90,653,750 (GRCm39)	missense	probably damaging	1.00
R7506:Iqsec1	UTSW	6	90,644,891 (GRCm39)	missense	probably damaging	1.00
R7506:Iqsec1	UTSW	6	90,639,788 (GRCm39)	missense	possibly damaging	0.53
R7539:Iqsec1	UTSW	6	90,639,873 (GRCm39)	missense	probably benign	0.00
R7921:Iqsec1	UTSW	6	90,644,923 (GRCm39)	missense	probably damaging	1.00
R7946:Iqsec1	UTSW	6	90,667,252 (GRCm39)	missense	probably damaging	1.00
R8238:Iqsec1	UTSW	6	90,666,912 (GRCm39)	missense	probably benign	0.01
R9536:Iqsec1	UTSW	6	90,666,659 (GRCm39)	missense	probably damaging	1.00
R9738:Iqsec1	UTSW	6	90,671,672 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CATGGATGCTTCTAGGCAGAG -3'
(R):5'- AAGTGTTCGTTCACGCCATTG -3'

Sequencing Primer
(F):5'- GAAGCTGCATGCAGGGC -3'
(R):5'- TAAAACTCCTCACTGCACTGCTG -3'

Posted On

2016-03-17