Mutagenetix > Incidental Mutation

Incidental Mutation 'R0139:Iqsec1'

67065

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

038424-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R0139 (G1)

Quality Score

Status

Validated (trace)

Chromosome

Chromosomal Location

90636578-90965766 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to T at 90786740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148669 (fasta)

Gene Model

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

AlphaFold

Q8R0S2

Predicted Effect

probably benign
Transcript: ENSMUST00000101151

SMART Domains

Protein: ENSMUSP00000098710
Gene: ENSMUSG00000034312

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 91.2%

Validation Efficiency

97% (89/92)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	C	T	8: 12,329,899 (GRCm39)	S118L	unknown	Het
Adprs	A	G	4: 126,211,947 (GRCm39)	Y122H	probably damaging	Het
Ankrd52	T	C	10: 128,222,007 (GRCm39)	S544P	probably benign	Het
Aopep	A	G	13: 63,338,298 (GRCm39)	N558S	probably benign	Het
Arhgef7	A	G	8: 11,850,503 (GRCm39)	E111G	probably damaging	Het
Atp11a	A	G	8: 12,896,054 (GRCm39)	M755V	probably benign	Het
Atp2a2	A	G	5: 122,629,778 (GRCm39)	I97T	probably damaging	Het
Bmp3	G	A	5: 99,027,768 (GRCm39)	D463N	possibly damaging	Het
Cacna2d4	T	C	6: 119,255,230 (GRCm39)		probably benign	Het
Ccdc28a	G	A	10: 18,106,188 (GRCm39)	S46F	possibly damaging	Het
Ccdc40	G	A	11: 119,155,125 (GRCm39)	G1122S	probably benign	Het
Cenpw	T	G	10: 30,076,455 (GRCm39)	T8P	probably benign	Het
Cfap44	G	C	16: 44,253,785 (GRCm39)	G893R	possibly damaging	Het
Cimap3	A	T	3: 105,906,886 (GRCm39)	M171K	possibly damaging	Het
Cops7a	A	T	6: 124,938,323 (GRCm39)	C110S	probably damaging	Het
Cstl1	A	G	2: 148,597,245 (GRCm39)	N134S	probably damaging	Het
Cyp2s1	G	T	7: 25,511,114 (GRCm39)		probably null	Het
Dio2	T	A	12: 90,696,617 (GRCm39)	N124Y	probably damaging	Het
Ecel1	C	A	1: 87,082,248 (GRCm39)	G155V	possibly damaging	Het
Efr3a	G	T	15: 65,717,830 (GRCm39)	V337F	possibly damaging	Het
Eva1b	A	C	4: 126,043,446 (GRCm39)	H162P	probably damaging	Het
Exoc5	C	T	14: 49,273,493 (GRCm39)	E301K	probably damaging	Het
F13b	G	A	1: 139,435,941 (GRCm39)	S249N	probably damaging	Het
Fam120b	C	T	17: 15,646,446 (GRCm39)		probably benign	Het
Gbf1	T	C	19: 46,250,231 (GRCm39)	L396S	probably damaging	Het
Gck	T	A	11: 5,859,139 (GRCm39)	K143*	probably null	Het
Gck	C	A	11: 5,860,370 (GRCm39)	V91L	probably damaging	Het
Glt8d2	T	C	10: 82,496,644 (GRCm39)	N138S	probably damaging	Het
Gm4884	T	C	7: 40,692,387 (GRCm39)	F119L	probably benign	Het
Igsf11	T	C	16: 38,829,240 (GRCm39)	S45P	probably damaging	Het
Iho1	T	C	9: 108,289,695 (GRCm39)	T176A	probably damaging	Het
Il10	G	A	1: 130,950,271 (GRCm39)	V142M	probably damaging	Het
Insc	A	T	7: 114,368,237 (GRCm39)	H9L	probably damaging	Het
Katnb1	A	G	8: 95,825,050 (GRCm39)	S611G	possibly damaging	Het
Kcnb1	A	G	2: 166,947,459 (GRCm39)	I463T	possibly damaging	Het
Lao1	A	G	4: 118,821,399 (GRCm39)	N90S	probably benign	Het
Med16	T	A	10: 79,732,635 (GRCm39)	M710L	probably benign	Het
Mroh2a	G	C	1: 88,185,524 (GRCm39)	E1510D	probably damaging	Het
Mtus1	G	A	8: 41,469,233 (GRCm39)		probably benign	Het
Mybpc3	A	G	2: 90,950,682 (GRCm39)		probably benign	Het
Ndor1	C	T	2: 25,138,366 (GRCm39)	V405M	possibly damaging	Het
Nell2	A	G	15: 95,330,782 (GRCm39)	V213A	probably benign	Het
Nme8	T	C	13: 19,862,018 (GRCm39)	I204V	probably benign	Het
Nup133	A	T	8: 124,656,082 (GRCm39)	N466K	probably benign	Het
Nxt1	A	G	2: 148,517,390 (GRCm39)	T44A	probably benign	Het
Or14c46	T	C	7: 85,918,187 (GRCm39)	E270G	probably benign	Het
Or2ag15	A	T	7: 106,340,832 (GRCm39)	I103N	probably benign	Het
Or2y12	C	T	11: 49,426,401 (GRCm39)	L130F	probably benign	Het
Or4e1	T	C	14: 52,700,669 (GRCm39)	T239A	probably damaging	Het
Or4f7	A	T	2: 111,644,699 (GRCm39)	I124K	possibly damaging	Het
Or7e168	C	T	9: 19,720,165 (GRCm39)	L184F	probably damaging	Het
Pced1a	T	C	2: 130,263,827 (GRCm39)	K275R	probably benign	Het
Pdcd11	A	G	19: 47,099,398 (GRCm39)		probably null	Het
Phldb2	A	C	16: 45,591,029 (GRCm39)		probably benign	Het
Piwil1	C	A	5: 128,824,387 (GRCm39)	S490Y	probably damaging	Het
Plekhh3	T	C	11: 101,054,501 (GRCm39)		probably benign	Het
Ppargc1b	A	T	18: 61,449,034 (GRCm39)		probably benign	Het
Psg19	C	T	7: 18,530,942 (GRCm39)	V71I	possibly damaging	Het
Ptk6	T	C	2: 180,838,724 (GRCm39)		probably benign	Het
Pus7	A	G	5: 23,983,090 (GRCm39)	S126P	probably damaging	Het
Rab6b	T	A	9: 103,017,576 (GRCm39)		probably null	Het
Ranbp3	G	A	17: 57,016,272 (GRCm39)	R347Q	possibly damaging	Het
Sanbr	A	T	11: 23,570,214 (GRCm39)		probably benign	Het
Sbf1	A	T	15: 89,186,701 (GRCm39)	L866Q	probably damaging	Het
Slc25a34	A	G	4: 141,349,663 (GRCm39)	V164A	possibly damaging	Het
Smg1	A	G	7: 117,751,898 (GRCm39)		probably null	Het
Spin1	G	T	13: 51,303,048 (GRCm39)	V214L	probably benign	Het
Spmip2	A	T	3: 79,313,142 (GRCm39)	Y72F	probably damaging	Het
Sptbn1	T	C	11: 30,092,289 (GRCm39)	N492S	probably benign	Het
Stk-ps2	A	G	1: 46,068,955 (GRCm39)		noncoding transcript	Het
Taar7f	T	C	10: 23,926,312 (GRCm39)	I302T	probably benign	Het
Tdrd1	C	A	19: 56,831,630 (GRCm39)	H340Q	probably benign	Het
Thumpd3	A	G	6: 113,044,762 (GRCm39)	D498G	probably benign	Het
Tpgs2	A	G	18: 25,282,242 (GRCm39)	L103P	probably damaging	Het
Trip10	A	G	17: 57,568,633 (GRCm39)		probably null	Het
Trip6	A	T	5: 137,310,436 (GRCm39)	H269Q	probably benign	Het
Trmt12	T	C	15: 58,744,743 (GRCm39)	V47A	possibly damaging	Het
Trpm7	A	T	2: 126,654,691 (GRCm39)	S1416T	probably benign	Het
Tsks	G	A	7: 44,603,883 (GRCm39)	A438T	probably benign	Het
Ttn	T	C	2: 76,727,630 (GRCm39)		probably benign	Het
Twf2	G	A	9: 106,090,155 (GRCm39)	V136M	possibly damaging	Het
Uty	A	C	Y: 1,197,223 (GRCm39)	Y115D	probably damaging	Het
Vcan	A	G	13: 89,839,380 (GRCm39)	S2055P	probably damaging	Het
Yes1	A	G	5: 32,842,039 (GRCm39)	Q521R	possibly damaging	Het
Zfp114	A	T	7: 23,880,685 (GRCm39)	T344S	possibly damaging	Het
Zfp661	A	T	2: 127,420,532 (GRCm39)	V89D	possibly damaging	Het
Zfp91	A	T	19: 12,747,834 (GRCm39)	Y430N	probably 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
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

Predicted Primers

PCR Primer
(F):5'- ACAGCTCAAGGAAGACTTGCTGAC -3'
(R):5'- AGGCTTCTGGGCACAGTGTAAAC -3'

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

Posted On

2013-08-20