Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01749:Iqsec1'

153088

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Iqsec1

Ensembl Gene

ENSMUSG00000034312

Gene Name

IQ motif and Sec7 domain 1

Synonyms

cI-43, BRAG2, D6Ertd349e

Accession Numbers

Essential gene?

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

Stock #

IGL01749

Quality Score

Status

Chromosome

Chromosomal Location

90636578-90965766 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 90657486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 571 (R571C)

Ref Sequence

ENSEMBL: ENSMUSP00000098710 (fasta)

Gene Model

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

AlphaFold

Q8R0S2

Predicted Effect

probably benign
Transcript: ENSMUST00000101151
AA Change: R571C

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000098710
Gene: ENSMUSG00000034312
AA Change: R571C

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: ENSMUST00000101153
AA Change: R585C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000098712
Gene: ENSMUSG00000034312
AA Change: R585C

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: ENSMUST00000175311

Predicted Effect

probably benign
Transcript: ENSMUST00000212100
AA Change: R675C

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Coding Region Coverage

Validation Efficiency

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,135,050 (GRCm39)	E245G	probably damaging	Het
Bach2	A	G	4: 32,580,261 (GRCm39)	T829A	probably damaging	Het
Car1	T	A	3: 14,832,519 (GRCm39)	H205L	probably benign	Het
Cmya5	T	C	13: 93,225,807 (GRCm39)	T3094A	probably benign	Het
Dctn2	G	A	10: 127,117,286 (GRCm39)	R380H	possibly damaging	Het
Flt3	T	C	5: 147,294,838 (GRCm39)	K411R	probably benign	Het
Gm5263	T	G	1: 146,296,302 (GRCm39)		noncoding transcript	Het
Hook2	T	C	8: 85,719,865 (GRCm39)		probably null	Het
Lig3	T	G	11: 82,680,693 (GRCm39)	L421R	probably damaging	Het
Mtcl2	G	T	2: 156,863,461 (GRCm39)		probably benign	Het
Nipbl	A	G	15: 8,391,305 (GRCm39)	V223A	probably benign	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Or2y12	A	T	11: 49,426,944 (GRCm39)	R311W	probably damaging	Het
Or8b48	C	T	9: 38,492,809 (GRCm39)	P79S	probably damaging	Het
Reln	C	A	5: 22,549,244 (GRCm39)	E55*	probably null	Het
Tlr1	A	T	5: 65,083,290 (GRCm39)	L429*	probably null	Het
Ttc22	A	G	4: 106,495,800 (GRCm39)	T385A	probably benign	Het
Vmn1r48	A	G	6: 90,012,934 (GRCm39)	V297A	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
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
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

Posted On

2014-02-04