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

D6Ertd349e, cI-43, BRAG2

MMRRC Submission

039730-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R1697 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90656088-90988685 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 90809770 bp (GRCm38)

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: 60,845,114	D250E	probably damaging	Het
4930571K23Rik	A	G	7: 125,369,029		noncoding transcript	Het
9530053A07Rik	T	A	7: 28,154,347	C1579S	probably damaging	Het
Acsl3	T	C	1: 78,705,397		probably benign	Het
Acsl6	C	A	11: 54,329,966	T244K	probably damaging	Het
Adam26b	T	A	8: 43,520,963	N334I	probably damaging	Het
Adgrl4	C	T	3: 151,517,611	T608M	probably damaging	Het
Aldh2	A	G	5: 121,578,341		probably null	Het
Alms1	A	G	6: 85,622,454	T1890A	possibly damaging	Het
C87977	A	C	4: 144,208,592	I193S	probably damaging	Het
Capn7	C	T	14: 31,360,160	T441M	probably damaging	Het
Cd9	A	T	6: 125,464,404	C85S	probably damaging	Het
Chrm3	T	C	13: 9,878,758	T81A	probably damaging	Het
Ctif	A	G	18: 75,624,305		probably benign	Het
Dcc	T	A	18: 71,370,737	D950V	probably damaging	Het
Eif4g1	T	C	16: 20,679,780	V422A	probably damaging	Het
Enthd1	A	G	15: 80,452,923	S437P	probably damaging	Het
Fads1	A	G	19: 10,194,100		probably benign	Het
Fat3	T	A	9: 15,944,880	I3869L	probably benign	Het
Fbxw5	T	A	2: 25,502,461	V85E	possibly damaging	Het
Fem1b	T	C	9: 62,797,174	D268G	possibly damaging	Het
Focad	T	C	4: 88,408,988	L1772P	probably damaging	Het
Gm9573	A	C	17: 35,620,648		probably benign	Het
Gm9833	G	A	3: 10,089,553	V461I	possibly damaging	Het
Gtf3a	C	A	5: 146,951,913	Q145K	possibly damaging	Het
Hacl1	T	C	14: 31,621,000		probably null	Het
Herc2	T	A	7: 56,153,905	F2229L	probably benign	Het
Hs3st4	A	T	7: 124,396,857	I249L	probably benign	Het
Klk1b1	T	A	7: 43,970,326	M103K	probably benign	Het
Krt5	A	G	15: 101,710,585	V287A	probably benign	Het
Lgals12	T	A	19: 7,604,165	Q59L	possibly damaging	Het
Loxl4	A	G	19: 42,604,940	V264A	possibly damaging	Het
Lrmp	A	G	6: 145,137,615		probably benign	Het
Lrp1b	T	C	2: 40,822,683	D3099G	probably damaging	Het
Mical3	G	A	6: 121,007,408	T169I	possibly damaging	Het
Myh7b	A	C	2: 155,620,134	S317R	probably damaging	Het
Nrbp1	T	A	5: 31,245,813	I210N	probably damaging	Het
Nsd1	A	T	13: 55,214,059		probably null	Het
Nupl1	A	T	14: 60,244,670		probably benign	Het
Olfr152	T	A	2: 87,782,585	I15N	possibly damaging	Het
Olfr190	A	G	16: 59,074,907	Y58H	probably damaging	Het
Olfr331	A	T	11: 58,501,676	S293R	probably damaging	Het
Olfr346	C	T	2: 36,688,247	L82F	probably damaging	Het
Olfr769	T	C	10: 129,111,868	T186A	probably benign	Het
Pcnx2	A	G	8: 125,850,348	Y982H	probably damaging	Het
Pias3	T	C	3: 96,702,225	L312P	probably damaging	Het
Plekhm1	G	A	11: 103,376,884	P754S	probably damaging	Het
Ppp2r5c	T	A	12: 110,561,472		probably benign	Het
Ppp2r5c	T	A	12: 110,545,623	L145*	probably null	Het
Proser3	T	C	7: 30,540,021	M553V	probably benign	Het
Shf	G	A	2: 122,368,682	P51S	probably damaging	Het
Smurf2	A	T	11: 106,824,688	D664E	possibly damaging	Het
Spag9	G	A	11: 93,996,565	A99T	probably benign	Het
Stim1	T	G	7: 102,354,506	C49G	probably damaging	Het
Stk32c	T	C	7: 139,121,824	I238V	probably benign	Het
Tenm2	C	T	11: 36,063,177	G1236R	possibly damaging	Het
Tfb2m	T	A	1: 179,544,899	E133V	probably null	Het
Tmem209	A	T	6: 30,497,868	C143S	probably benign	Het
Tnr	T	G	1: 159,852,030	N191K	probably benign	Het
Vars	C	T	17: 34,998,222	A419T	probably benign	Het
Vmn2r111	T	C	17: 22,548,060	S819G	probably benign	Het
Wls	T	C	3: 159,897,358	V136A	probably benign	Het
Ybx2	C	T	11: 69,940,061	S217L	probably benign	Het
Zfp82	T	C	7: 30,057,354	D37G	probably benign	Het

Other mutations in Iqsec1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:Iqsec1	APN	6	90689703	missense	probably damaging	1.00
IGL01749:Iqsec1	APN	6	90680504	missense	probably benign	0.03
IGL01960:Iqsec1	APN	6	90676780	missense	probably damaging	1.00
IGL02007:Iqsec1	APN	6	90690349	missense	probably benign	0.37
IGL02045:Iqsec1	APN	6	90664069	missense	probably damaging	0.96
IGL02186:Iqsec1	APN	6	90676877	missense	probably damaging	1.00
IGL02211:Iqsec1	APN	6	90671609	missense	probably damaging	1.00
IGL02503:Iqsec1	APN	6	90668788	missense	probably damaging	1.00
IGL02506:Iqsec1	APN	6	90672075	missense	possibly damaging	0.94
IGL02554:Iqsec1	APN	6	90669345	missense	probably damaging	1.00
PIT4260001:Iqsec1	UTSW	6	90690489	missense	probably damaging	1.00
PIT4810001:Iqsec1	UTSW	6	90670491	missense	probably damaging	1.00
R0139:Iqsec1	UTSW	6	90809758	intron	probably benign
R0371:Iqsec1	UTSW	6	90670403	splice site	probably benign
R0617:Iqsec1	UTSW	6	90689970	missense	probably damaging	1.00
R0619:Iqsec1	UTSW	6	90670406	splice site	probably null
R1157:Iqsec1	UTSW	6	90669384	missense	possibly damaging	0.83
R1168:Iqsec1	UTSW	6	90689676	missense	probably damaging	1.00
R1190:Iqsec1	UTSW	6	90689677	missense	probably damaging	1.00
R1192:Iqsec1	UTSW	6	90671976	splice site	probably benign
R1435:Iqsec1	UTSW	6	90672024	missense	probably damaging	1.00
R1449:Iqsec1	UTSW	6	90690808	nonsense	probably null
R1921:Iqsec1	UTSW	6	90662895	missense	probably benign	0.00
R1958:Iqsec1	UTSW	6	90670459	missense	probably damaging	1.00
R2017:Iqsec1	UTSW	6	90689930	missense	probably benign	0.02
R2082:Iqsec1	UTSW	6	90694574	missense	probably damaging	1.00
R2372:Iqsec1	UTSW	6	90694654	missense	probably damaging	1.00
R2442:Iqsec1	UTSW	6	90689883	missense	possibly damaging	0.52
R4120:Iqsec1	UTSW	6	90662602	nonsense	probably null
R4371:Iqsec1	UTSW	6	90694606	missense	probably damaging	1.00
R4645:Iqsec1	UTSW	6	90668013	missense	probably damaging	1.00
R4864:Iqsec1	UTSW	6	90664056	missense	probably damaging	1.00
R5436:Iqsec1	UTSW	6	90845361	intron	probably benign
R5790:Iqsec1	UTSW	6	90689880	nonsense	probably null
R6007:Iqsec1	UTSW	6	90660987	nonsense	probably null
R6143:Iqsec1	UTSW	6	90809684	splice site	probably null
R6218:Iqsec1	UTSW	6	90689635	missense	probably damaging	1.00
R6972:Iqsec1	UTSW	6	90676768	missense	probably damaging	1.00
R7506:Iqsec1	UTSW	6	90662806	missense	possibly damaging	0.53
R7506:Iqsec1	UTSW	6	90667909	missense	probably damaging	1.00
R7539:Iqsec1	UTSW	6	90662891	missense	probably benign	0.00
R7921:Iqsec1	UTSW	6	90667941	missense	probably damaging	1.00
R7946:Iqsec1	UTSW	6	90690270	missense	probably damaging	1.00
R8238:Iqsec1	UTSW	6	90689930	missense	probably benign	0.01
R9536:Iqsec1	UTSW	6	90689677	missense	probably damaging	1.00
R9738:Iqsec1	UTSW	6	90694690	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