Mutagenetix > Incidental Mutation

Incidental Mutation 'R6218:Iqsec1'

503837

Institutional Source

Beutler Lab

Gene Symbol

Iqsec1

Ensembl Gene

ENSMUSG00000034312

Gene Name

IQ motif and Sec7 domain 1

Synonyms

D6Ertd349e, cI-43, BRAG2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R6218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90656088-90988685 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90689635 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 607 (S607C)

Ref Sequence

ENSEMBL: ENSMUSP00000148669 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101151] [ENSMUST00000101153] [ENSMUST00000156834] [ENSMUST00000212100]

AlphaFold

Q8R0S2

Predicted Effect

probably damaging
Transcript: ENSMUST00000101151
AA Change: S503C

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

SMART Domains

Protein: ENSMUSP00000098710
Gene: ENSMUSG00000034312
AA Change: S503C

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: S517C

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000098712
Gene: ENSMUSG00000034312
AA Change: S517C

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: ENSMUST00000133492

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146977

Predicted Effect

probably benign
Transcript: ENSMUST00000156834

SMART Domains

Protein: ENSMUSP00000118802
Gene: ENSMUSG00000034312

Domain	Start	End	E-Value	Type
low complexity region	72	83	N/A	INTRINSIC
Blast:Sec7	84	208	5e-24	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204662

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205068

Predicted Effect

probably damaging
Transcript: ENSMUST00000212100
AA Change: S607C

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

Meta Mutation Damage Score

0.2832

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (65/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	G	T	11: 99,837,904	Q38K	probably benign	Het
9930111J21Rik2	A	T	11: 49,019,307	N766K	probably benign	Het
Adam15	A	C	3: 89,343,883	I505S	probably benign	Het
Apc2	T	C	10: 80,306,420	M391T	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Bclaf1	A	G	10: 20,334,628	S840G	probably benign	Het
Cacna2d4	A	G	6: 119,239,060	Y96C	probably damaging	Het
Cald1	CAAAA	CAAA	6: 34,747,928		probably null	Het
Ddhd1	A	G	14: 45,614,176	L141P	probably damaging	Het
Dnaaf3	A	T	7: 4,523,672	S469T	probably benign	Het
Dzip3	A	T	16: 48,958,465	M323K	possibly damaging	Het
E430018J23Rik	C	T	7: 127,393,409	A10T	possibly damaging	Het
Eci2	T	A	13: 34,993,065		probably null	Het
Fam109b	T	A	15: 82,343,716	H145Q	probably benign	Het
Fam227b	A	T	2: 126,126,962	V64E	probably damaging	Het
Galnt2	A	G	8: 124,343,315	I524V	probably benign	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm14548	A	T	7: 3,894,032	S602T	possibly damaging	Het
Gm3443	T	A	19: 21,555,746	S25T	probably damaging	Het
Gpr22	T	A	12: 31,711,617	K14*	probably null	Het
Grip1	T	C	10: 119,986,346	S405P	possibly damaging	Het
Helz2	C	A	2: 181,232,294	V2136L	probably benign	Het
Helz2	T	C	2: 181,235,945	H1020R	probably damaging	Het
Il1f5	G	A	2: 24,277,490		probably benign	Het
Klhl2	A	T	8: 64,752,767	Y373*	probably null	Het
L3mbtl3	T	C	10: 26,292,747	I595V	unknown	Het
Large2	T	C	2: 92,370,636	D65G	probably damaging	Het
Lrrfip1	T	C	1: 91,082,159	Y122H	probably damaging	Het
Map1b	A	T	13: 99,433,206	D1002E	unknown	Het
Mink1	C	T	11: 70,598,894	T59I	possibly damaging	Het
Mrvi1	G	A	7: 110,876,905	T819M	probably benign	Het
Myo7b	T	C	18: 31,959,454	N2097D	probably benign	Het
Nbea	C	A	3: 55,628,484	C2893F	probably damaging	Het
Nlgn1	A	T	3: 25,436,093	V490E	probably damaging	Het
Olfr1230	G	T	2: 89,296,962	H103N	probably damaging	Het
Olfr131	A	G	17: 38,082,729	M83T	probably damaging	Het
Olfr1318	T	C	2: 112,156,356	I135T	probably damaging	Het
Olfr1369-ps1	G	A	13: 21,116,231	E180K	probably damaging	Het
Olfr730	C	A	14: 50,186,678	D180Y	probably damaging	Het
Pctp	A	G	11: 89,987,318	I130T	probably benign	Het
Pdcl3	T	C	1: 38,988,071		probably null	Het
Pkp1	T	C	1: 135,879,908	K541E	probably damaging	Het
Plekhh2	G	A	17: 84,591,564	V990I	probably benign	Het
Ppp1r3a	A	T	6: 14,718,431	V828D	probably damaging	Het
Prrc2b	T	C	2: 32,208,811	Y712H	probably damaging	Het
Prune2	T	C	19: 17,121,562	S1477P	probably benign	Het
Psma5	A	G	3: 108,279,802	K239R	probably benign	Het
Rhobtb1	G	C	10: 69,270,456	A284P	probably benign	Het
Samsn1	G	A	16: 75,945,274		noncoding transcript	Het
Scel	A	G	14: 103,572,042	T273A	probably benign	Het
Slc22a5	T	A	11: 53,891,618		probably benign	Het
Slc25a37	A	T	14: 69,249,504	M110K	possibly damaging	Het
Slc6a2	A	T	8: 92,981,981	M242L	probably benign	Het
Slc8a3	C	A	12: 81,199,567	W904L	probably benign	Het
Ss18l1	G	A	2: 180,055,112	V109I	probably benign	Het
Tbx5	C	T	5: 119,853,598	H245Y	probably damaging	Het
Thumpd2	C	A	17: 81,052,913	L244F	probably damaging	Het
Tmem107	T	A	11: 69,071,415	V66E	probably damaging	Het
Tnr	T	C	1: 159,888,314	V882A	possibly damaging	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Ttbk1	A	G	17: 46,470,807	V340A	possibly damaging	Het
Veph1	T	C	3: 66,255,060	E59G	probably damaging	Het
Vmn1r234	T	A	17: 21,229,721	M299K	possibly damaging	Het
Vps13b	T	C	15: 35,770,464	Y2018H	probably benign	Het
Zbtb11	A	G	16: 55,998,073	E620G	probably benign	Het
Zfp418	A	G	7: 7,182,628	H530R	possibly damaging	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
R1697:Iqsec1	UTSW	6	90809770	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
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'- TGTGGGTAGAGGCTCACAGTAG -3'
(R):5'- AGAGTCACCTAGCCATCAATG -3'

Sequencing Primer
(F):5'- CTCACAGTAGGAGGGAAGATGGATTC -3'
(R):5'- GAGCAAATCTGAGTCTGACTACTC -3'

Posted On

2018-02-27