Mutagenetix > Incidental Mutation

Incidental Mutation 'R4553:Iqsec2'

341798

Institutional Source

Beutler Lab

Gene Symbol

Iqsec2

Ensembl Gene

ENSMUSG00000041115

Gene Name

IQ motif and Sec7 domain 2

Synonyms

MMRRC Submission

041595-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.405) question?

Stock #

R4553 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

150927193-151008232 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 150994277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 585 (H585R)

Ref Sequence

ENSEMBL: ENSMUSP00000093995 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096275] [ENSMUST00000112604] [ENSMUST00000112605] [ENSMUST00000168786]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000096275
AA Change: H585R

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000093995
Gene: ENSMUSG00000041115
AA Change: H585R

Domain	Start	End	E-Value	Type
low complexity region	164	177	N/A	INTRINSIC
low complexity region	228	246	N/A	INTRINSIC
low complexity region	309	334	N/A	INTRINSIC
low complexity region	343	355	N/A	INTRINSIC
low complexity region	395	410	N/A	INTRINSIC
low complexity region	444	461	N/A	INTRINSIC
low complexity region	491	515	N/A	INTRINSIC
Sec7	545	736	2.19e-88	SMART
PH	767	878	6.87e-3	SMART
Blast:Sec7	886	931	3e-18	BLAST
low complexity region	932	946	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112604
AA Change: H790R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000108223
Gene: ENSMUSG00000041115
AA Change: H790R

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
coiled coil region	23	74	N/A	INTRINSIC
low complexity region	167	174	N/A	INTRINSIC
low complexity region	206	232	N/A	INTRINSIC
low complexity region	369	382	N/A	INTRINSIC
low complexity region	433	451	N/A	INTRINSIC
low complexity region	514	539	N/A	INTRINSIC
low complexity region	548	560	N/A	INTRINSIC
low complexity region	600	615	N/A	INTRINSIC
low complexity region	649	666	N/A	INTRINSIC
low complexity region	696	720	N/A	INTRINSIC
Sec7	750	941	2.19e-88	SMART
PH	972	1083	6.87e-3	SMART
Blast:Sec7	1091	1136	3e-18	BLAST
low complexity region	1137	1151	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112605
AA Change: H790R

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000108224
Gene: ENSMUSG00000041115
AA Change: H790R

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
coiled coil region	23	74	N/A	INTRINSIC
low complexity region	167	174	N/A	INTRINSIC
low complexity region	206	232	N/A	INTRINSIC
low complexity region	369	382	N/A	INTRINSIC
low complexity region	433	451	N/A	INTRINSIC
low complexity region	514	539	N/A	INTRINSIC
low complexity region	548	560	N/A	INTRINSIC
low complexity region	600	615	N/A	INTRINSIC
low complexity region	649	666	N/A	INTRINSIC
low complexity region	696	720	N/A	INTRINSIC
Sec7	750	941	2.19e-88	SMART
PH	972	1083	6.87e-3	SMART
Blast:Sec7	1091	1136	4e-18	BLAST
low complexity region	1137	1151	N/A	INTRINSIC
low complexity region	1201	1211	N/A	INTRINSIC
low complexity region	1228	1253	N/A	INTRINSIC
low complexity region	1273	1318	N/A	INTRINSIC
low complexity region	1337	1349	N/A	INTRINSIC
low complexity region	1392	1462	N/A	INTRINSIC
low complexity region	1470	1482	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168786
AA Change: H790R

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000127249
Gene: ENSMUSG00000041115
AA Change: H790R

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
coiled coil region	23	74	N/A	INTRINSIC
low complexity region	167	174	N/A	INTRINSIC
low complexity region	206	232	N/A	INTRINSIC
low complexity region	369	382	N/A	INTRINSIC
low complexity region	433	451	N/A	INTRINSIC
low complexity region	514	539	N/A	INTRINSIC
low complexity region	548	560	N/A	INTRINSIC
low complexity region	600	615	N/A	INTRINSIC
low complexity region	649	666	N/A	INTRINSIC
low complexity region	696	720	N/A	INTRINSIC
Sec7	750	941	2.19e-88	SMART
Blast:PH	972	1074	7e-61	BLAST
Blast:Sec7	1082	1127	4e-18	BLAST
low complexity region	1128	1142	N/A	INTRINSIC
low complexity region	1192	1202	N/A	INTRINSIC
low complexity region	1219	1244	N/A	INTRINSIC
low complexity region	1264	1309	N/A	INTRINSIC
low complexity region	1328	1340	N/A	INTRINSIC
low complexity region	1383	1453	N/A	INTRINSIC
low complexity region	1461	1473	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a guanine nucleotide exchange factor for the ARF family of small GTP-binding proteins. The encoded protein is a component of the postsynaptic density at excitatory synapses, and may play a critical role in cytoskeletal and synaptic organization through the activation of selected ARF substrates including ARF1 and ARF6. Mutations in this gene have been implicated in nonsyndromic X-linked mental retardation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500011B03Rik	T	C	5: 114,951,254 (GRCm39)	Y49C	probably damaging	Het
Adat1	T	C	8: 112,716,912 (GRCm39)	T32A	probably damaging	Het
Adra2a	T	C	19: 54,035,166 (GRCm39)	V174A	possibly damaging	Het
Armcx5	T	A	X: 134,647,256 (GRCm39)	V444D	probably damaging	Het
Cand2	C	A	6: 115,769,172 (GRCm39)	R661S	probably damaging	Het
Cd274	T	C	19: 29,357,848 (GRCm39)	V180A	probably benign	Het
Crat	T	C	2: 30,298,229 (GRCm39)	T157A	probably benign	Het
Cts6	G	A	13: 61,345,407 (GRCm39)	P230L	probably damaging	Het
Dppa2	A	G	16: 48,130,877 (GRCm39)	Y3C	possibly damaging	Het
Epgn	A	T	5: 91,175,421 (GRCm39)	K14*	probably null	Het
Garin1a	A	G	6: 29,287,705 (GRCm39)	I210M	probably benign	Het
Gsap	A	T	5: 21,495,569 (GRCm39)	D79V	probably damaging	Het
Hgfac	T	A	5: 35,200,200 (GRCm39)	C130S	probably damaging	Het
Ifi35	T	C	11: 101,348,717 (GRCm39)	V188A	probably damaging	Het
Itih4	T	C	14: 30,622,910 (GRCm39)	L842P	probably damaging	Het
Kif3a	C	A	11: 53,469,745 (GRCm39)	L119I	possibly damaging	Het
Lrp2	T	C	2: 69,343,629 (GRCm39)	D910G	probably benign	Het
Lyve1	T	C	7: 110,451,567 (GRCm39)		probably null	Het
Mtss2	A	G	8: 111,465,137 (GRCm39)	T464A	probably damaging	Het
Mx2	A	G	16: 97,353,205 (GRCm39)	T398A	possibly damaging	Het
Nlrp4e	T	C	7: 23,020,404 (GRCm39)	M297T	probably benign	Het
Nog	A	G	11: 89,192,248 (GRCm39)	L200P	probably damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Papolb	T	C	5: 142,514,933 (GRCm39)	I237V	probably benign	Het
Phf11b	G	A	14: 59,578,734 (GRCm39)	P11S	probably benign	Het
Plcb1	T	C	2: 135,177,413 (GRCm39)	S582P	probably benign	Het
Pld1	G	T	3: 28,178,851 (GRCm39)	R915L	probably benign	Het
Sell	C	T	1: 163,899,685 (GRCm39)	T34I	probably benign	Het
Slc34a1	G	A	13: 55,559,874 (GRCm39)		probably null	Het
Slc8b1	T	C	5: 120,667,663 (GRCm39)	V432A	probably damaging	Het
Tipin	T	A	9: 64,195,385 (GRCm39)		probably null	Het
Vmn1r117	A	T	7: 20,617,517 (GRCm39)	F177Y	probably damaging	Het
Xab2	T	C	8: 3,661,015 (GRCm39)	T700A	probably benign	Het

Other mutations in Iqsec2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0193:Iqsec2	UTSW	X	151,006,399 (GRCm39)	missense	probably benign	0.33
R0675:Iqsec2	UTSW	X	150,987,120 (GRCm39)	missense	possibly damaging	0.76
R1169:Iqsec2	UTSW	X	150,927,727 (GRCm39)	missense	probably benign	0.01
R1171:Iqsec2	UTSW	X	150,927,727 (GRCm39)	missense	probably benign	0.01
R4395:Iqsec2	UTSW	X	150,992,049 (GRCm39)	missense	probably damaging	0.98
R4397:Iqsec2	UTSW	X	150,992,049 (GRCm39)	missense	probably damaging	0.98
X0026:Iqsec2	UTSW	X	150,992,646 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCGATCCTTGGCTCTCTAAAGC -3'
(R):5'- CCTTTTGGAGCAGAGGGGTC -3'

Sequencing Primer
(F):5'- CTAAAGCCCTGGTTAGTCTGGC -3'
(R):5'- TTTGAGCAAAAAGACAGACTGCCTC -3'

Posted On

2015-09-24