Mutagenetix > Incidental Mutation

Incidental Mutation 'R1697:Iqsec1'

192320

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

039730-MU

Accession Numbers

Essential gene?

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

Stock #

R1697 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90636578-90965766 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 90786752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 7 (Y7*)

Ref Sequence

ENSEMBL: ENSMUSP00000098710 (fasta)

Gene Model

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

AlphaFold

Q8R0S2

Predicted Effect

probably null
Transcript: ENSMUST00000101151
AA Change: Y7*

SMART Domains

Protein: ENSMUSP00000098710
Gene: ENSMUSG00000034312
AA Change: Y7*

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 benign
Transcript: ENSMUST00000212100

Meta Mutation Damage Score

0.9717

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

99% (67/68)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 60,992,928 (GRCm39)	D250E	probably damaging	Het
4930571K23Rik	A	G	7: 124,968,201 (GRCm39)		noncoding transcript	Het
Acsl3	T	C	1: 78,683,114 (GRCm39)		probably benign	Het
Acsl6	C	A	11: 54,220,792 (GRCm39)	T244K	probably damaging	Het
Adam26b	T	A	8: 43,974,000 (GRCm39)	N334I	probably damaging	Het
Adgrl4	C	T	3: 151,223,248 (GRCm39)	T608M	probably damaging	Het
Aldh2	A	G	5: 121,716,404 (GRCm39)		probably null	Het
Alms1	A	G	6: 85,599,436 (GRCm39)	T1890A	possibly damaging	Het
Capn7	C	T	14: 31,082,117 (GRCm39)	T441M	probably damaging	Het
Cd9	A	T	6: 125,441,367 (GRCm39)	C85S	probably damaging	Het
Chrm3	T	C	13: 9,928,794 (GRCm39)	T81A	probably damaging	Het
Ctif	A	G	18: 75,757,376 (GRCm39)		probably benign	Het
Dcc	T	A	18: 71,503,808 (GRCm39)	D950V	probably damaging	Het
Eif4g1	T	C	16: 20,498,530 (GRCm39)	V422A	probably damaging	Het
Enthd1	A	G	15: 80,337,124 (GRCm39)	S437P	probably damaging	Het
Fads1	A	G	19: 10,171,464 (GRCm39)		probably benign	Het
Fat3	T	A	9: 15,856,176 (GRCm39)	I3869L	probably benign	Het
Fbxw5	T	A	2: 25,392,473 (GRCm39)	V85E	possibly damaging	Het
Fcgbpl1	T	A	7: 27,853,772 (GRCm39)	C1579S	probably damaging	Het
Fem1b	T	C	9: 62,704,456 (GRCm39)	D268G	possibly damaging	Het
Focad	T	C	4: 88,327,225 (GRCm39)	L1772P	probably damaging	Het
Gtf3a	C	A	5: 146,888,723 (GRCm39)	Q145K	possibly damaging	Het
Hacl1	T	C	14: 31,342,957 (GRCm39)		probably null	Het
Herc2	T	A	7: 55,803,653 (GRCm39)	F2229L	probably benign	Het
Hs3st4	A	T	7: 123,996,080 (GRCm39)	I249L	probably benign	Het
Irag2	A	G	6: 145,083,341 (GRCm39)		probably benign	Het
Klk1b1	T	A	7: 43,619,750 (GRCm39)	M103K	probably benign	Het
Krt5	A	G	15: 101,619,020 (GRCm39)	V287A	probably benign	Het
Lgals12	T	A	19: 7,581,530 (GRCm39)	Q59L	possibly damaging	Het
Loxl4	A	G	19: 42,593,379 (GRCm39)	V264A	possibly damaging	Het
Lrp1b	T	C	2: 40,712,695 (GRCm39)	D3099G	probably damaging	Het
Mical3	G	A	6: 120,984,369 (GRCm39)	T169I	possibly damaging	Het
Muc21	A	C	17: 35,931,540 (GRCm39)		probably benign	Het
Myef2l	G	A	3: 10,154,613 (GRCm39)	V461I	possibly damaging	Het
Myh7b	A	C	2: 155,462,054 (GRCm39)	S317R	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nsd1	A	T	13: 55,361,872 (GRCm39)		probably null	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or1j17	C	T	2: 36,578,259 (GRCm39)	L82F	probably damaging	Het
Or2t49	A	T	11: 58,392,502 (GRCm39)	S293R	probably damaging	Het
Or5h22	A	G	16: 58,895,270 (GRCm39)	Y58H	probably damaging	Het
Or5i1	T	A	2: 87,612,929 (GRCm39)	I15N	possibly damaging	Het
Or6c2b	T	C	10: 128,947,737 (GRCm39)	T186A	probably benign	Het
Pcnx2	A	G	8: 126,577,087 (GRCm39)	Y982H	probably damaging	Het
Pias3	T	C	3: 96,609,541 (GRCm39)	L312P	probably damaging	Het
Plekhm1	G	A	11: 103,267,710 (GRCm39)	P754S	probably damaging	Het
Ppp2r5c	T	A	12: 110,512,057 (GRCm39)	L145*	probably null	Het
Ppp2r5c	T	A	12: 110,527,906 (GRCm39)		probably benign	Het
Pramel29	A	C	4: 143,935,162 (GRCm39)	I193S	probably damaging	Het
Proser3	T	C	7: 30,239,446 (GRCm39)	M553V	probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Smurf2	A	T	11: 106,715,514 (GRCm39)	D664E	possibly damaging	Het
Spag9	G	A	11: 93,887,391 (GRCm39)	A99T	probably benign	Het
Stim1	T	G	7: 102,003,713 (GRCm39)	C49G	probably damaging	Het
Stk32c	T	C	7: 138,701,740 (GRCm39)	I238V	probably benign	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Tfb2m	T	A	1: 179,372,464 (GRCm39)	E133V	probably null	Het
Tmem209	A	T	6: 30,497,867 (GRCm39)	C143S	probably benign	Het
Tnr	T	G	1: 159,679,600 (GRCm39)	N191K	probably benign	Het
Vars1	C	T	17: 35,217,198 (GRCm39)	A419T	probably benign	Het
Vmn2r111	T	C	17: 22,767,041 (GRCm39)	S819G	probably benign	Het
Wls	T	C	3: 159,602,995 (GRCm39)	V136A	probably benign	Het
Ybx2	C	T	11: 69,830,887 (GRCm39)	S217L	probably benign	Het
Zfp82	T	C	7: 29,756,779 (GRCm39)	D37G	probably benign	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
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
R4864:Iqsec1	UTSW	6	90,641,038 (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'- ACAGCTCAAGGAAGACTTGCTGAC -3'
(R):5'- AGGCTTCTGGGCACAGTGTAAAC -3'

Sequencing Primer
(F):5'- GGAAGACTTGCTGACTAAGATTC -3'
(R):5'- GGCACAGTGTAAACCCTGC -3'

Posted On

2014-05-14