Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02352:Iqgap3'

289511

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Iqgap3

Ensembl Gene

ENSMUSG00000028068

Gene Name

IQ motif containing GTPase activating protein 3

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.341) question?

Stock #

IGL02352

Quality Score

Status

Chromosome

Chromosomal Location

88081971-88121048 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88101960 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 734 (F734L)

Ref Sequence

ENSEMBL: ENSMUSP00000071715 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071812] [ENSMUST00000194440] [ENSMUST00000195465]

AlphaFold

F8VQ29

Predicted Effect

probably benign
Transcript: ENSMUST00000071812
AA Change: F734L

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

SMART Domains

Protein: ENSMUSP00000071715
Gene: ENSMUSG00000028068
AA Change: F734L

Domain	Start	End	E-Value	Type
CH	36	145	1.72e-14	SMART
internal_repeat_2	197	249	1.75e-5	PROSPERO
internal_repeat_1	209	418	1.31e-14	PROSPERO
low complexity region	419	438	N/A	INTRINSIC
internal_repeat_1	446	651	1.31e-14	PROSPERO
internal_repeat_2	600	652	1.75e-5	PROSPERO
IQ	730	752	1.18e1	SMART
IQ	760	782	3.76e-6	SMART
IQ	790	812	3.08e-2	SMART
IQ	820	842	1.72e0	SMART
RasGAP	977	1330	1.74e-57	SMART
Blast:RasGAP	1338	1422	1e-9	BLAST
Pfam:RasGAP_C	1434	1555	2e-36	PFAM
low complexity region	1591	1602	N/A	INTRINSIC
low complexity region	1615	1630	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194440

SMART Domains

Protein: ENSMUSP00000142035
Gene: ENSMUSG00000028068

Domain	Start	End	E-Value	Type
Blast:RasGAP	1	67	3e-30	BLAST
RasGAP	79	432	1e-59	SMART
Blast:RasGAP	440	524	5e-10	BLAST
Pfam:RasGAP_C	535	660	5.7e-30	PFAM
low complexity region	693	704	N/A	INTRINSIC
low complexity region	717	732	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000195465

SMART Domains

Protein: ENSMUSP00000142013
Gene: ENSMUSG00000028068

Domain	Start	End	E-Value	Type
CH	36	145	8.5e-17	SMART
internal_repeat_1	209	379	1.33e-7	PROSPERO
low complexity region	419	438	N/A	INTRINSIC
internal_repeat_1	446	612	1.33e-7	PROSPERO

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	C	12: 72,895,055		probably null	Het
Abca5	T	A	11: 110,275,330	N1540I	probably benign	Het
Adamtsl5	T	A	10: 80,343,728		probably null	Het
Aldh2	T	C	5: 121,575,897	E128G	probably null	Het
Anln	A	G	9: 22,368,412	V494A	probably benign	Het
Ano3	A	T	2: 110,884,943	L50*	probably null	Het
Atp13a3	A	G	16: 30,351,084	I392T	probably damaging	Het
C1qtnf5	A	G	9: 44,108,334	E85G	possibly damaging	Het
Cacna1s	A	T	1: 136,093,252		probably benign	Het
Ccdc150	G	A	1: 54,272,521	R222H	probably benign	Het
Cdk5rap3	A	T	11: 96,916,177	I9N	probably damaging	Het
Cmip	A	T	8: 117,411,255		probably benign	Het
Cyp21a1	A	G	17: 34,804,222	Y60H	probably damaging	Het
Cyp2d11	A	G	15: 82,393,920	W10R	possibly damaging	Het
Dock10	A	G	1: 80,505,661	Y2076H	probably damaging	Het
Egflam	T	C	15: 7,234,225	N748S	probably benign	Het
Fam227b	A	G	2: 126,146,254		probably benign	Het
Fancd2	T	A	6: 113,563,112	I654N	probably damaging	Het
Gm17018	G	T	19: 45,577,054	A156S	probably benign	Het
Gm17727	A	T	9: 35,777,884	M1K	probably null	Het
Hpf1	A	G	8: 60,896,802	I155V	probably benign	Het
Hrh1	C	A	6: 114,480,443	N228K	probably benign	Het
Igkv3-2	T	C	6: 70,698,490	L8P	probably damaging	Het
Kif5a	T	C	10: 127,243,501	Y276C	probably damaging	Het
Lax1	A	T	1: 133,680,470	S178T	possibly damaging	Het
March6	C	T	15: 31,509,759	C28Y	probably damaging	Het
Mylk3	T	C	8: 85,355,302	T356A	probably benign	Het
Obscn	T	C	11: 59,001,027	E6893G	probably benign	Het
Olfr166	T	C	16: 19,487,177	L113P	probably damaging	Het
Pgap2	G	T	7: 102,236,139	V71F	probably damaging	Het
Prob1	T	G	18: 35,652,840	E787A	possibly damaging	Het
Psmd2	C	A	16: 20,656,941	D430E	probably benign	Het
Reln	C	A	5: 22,039,565	G805V	possibly damaging	Het
Serpinb9e	A	T	13: 33,257,820		probably benign	Het
Sgsm2	G	T	11: 74,892,074		probably benign	Het
Slc38a9	A	G	13: 112,690,186	I153V	probably benign	Het
Slco1b2	T	A	6: 141,685,525	D628E	probably damaging	Het
Sult2a5	T	C	7: 13,628,802	S145P	probably benign	Het
Sv2b	T	C	7: 75,136,449	T408A	probably benign	Het
Usp24	T	C	4: 106,403,925	C1626R	probably damaging	Het
Wdr43	C	T	17: 71,632,048	T217M	possibly damaging	Het
Wdr95	G	A	5: 149,580,619	V155M	probably damaging	Het
Wsb1	G	A	11: 79,251,012	L60F	probably damaging	Het
Wwp2	C	T	8: 107,540,646	R297*	probably null	Het
Xkr6	T	C	14: 63,819,707	Y356H	unknown	Het

Other mutations in Iqgap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01016:Iqgap3	APN	3	88107560	missense	probably damaging	1.00
IGL01062:Iqgap3	APN	3	88110122	missense	probably benign	0.00
IGL01517:Iqgap3	APN	3	88109396	missense	probably benign	0.09
IGL01530:Iqgap3	APN	3	88112303	critical splice acceptor site	probably null
IGL01658:Iqgap3	APN	3	88115971	missense	possibly damaging	0.89
IGL02027:Iqgap3	APN	3	88087342	missense	possibly damaging	0.67
IGL02359:Iqgap3	APN	3	88101960	missense	probably benign	0.00
IGL02522:Iqgap3	APN	3	88108398	missense	possibly damaging	0.94
IGL02717:Iqgap3	APN	3	88098359	missense	probably benign	0.01
IGL02971:Iqgap3	APN	3	88090304	missense	probably benign	0.30
IGL03079:Iqgap3	APN	3	88113170	missense	probably benign
IGL03240:Iqgap3	APN	3	88114974	missense	probably benign	0.00
adjutant	UTSW	3	88101527	missense	possibly damaging	0.51
Booster	UTSW	3	88113128	missense	probably damaging	0.99
peso_ligero	UTSW	3	88112771	frame shift	probably null
R0048:Iqgap3	UTSW	3	88115949	missense	probably benign	0.00
R0048:Iqgap3	UTSW	3	88115949	missense	probably benign	0.00
R0285:Iqgap3	UTSW	3	88096990	missense	probably benign	0.11
R0442:Iqgap3	UTSW	3	88115959	missense	probably damaging	0.96
R0490:Iqgap3	UTSW	3	88114056	splice site	probably benign
R0569:Iqgap3	UTSW	3	88090725	splice site	probably benign
R0747:Iqgap3	UTSW	3	88107503	splice site	probably benign
R0843:Iqgap3	UTSW	3	88108431	missense	possibly damaging	0.94
R1260:Iqgap3	UTSW	3	88114023	missense	probably benign
R1465:Iqgap3	UTSW	3	88087309	missense	probably damaging	0.99
R1465:Iqgap3	UTSW	3	88087309	missense	probably damaging	0.99
R1544:Iqgap3	UTSW	3	88098893	missense	probably benign	0.00
R1662:Iqgap3	UTSW	3	88098401	missense	probably benign	0.33
R1686:Iqgap3	UTSW	3	88108356	splice site	probably benign
R1748:Iqgap3	UTSW	3	88113980	missense	possibly damaging	0.92
R1836:Iqgap3	UTSW	3	88108368	missense	probably damaging	1.00
R1972:Iqgap3	UTSW	3	88083928	splice site	probably null
R1973:Iqgap3	UTSW	3	88083928	splice site	probably null
R2051:Iqgap3	UTSW	3	88120167	missense	probably damaging	1.00
R2314:Iqgap3	UTSW	3	88116031	missense	probably benign	0.01
R2352:Iqgap3	UTSW	3	88104508	missense	possibly damaging	0.94
R2857:Iqgap3	UTSW	3	88107596	nonsense	probably null
R2859:Iqgap3	UTSW	3	88107596	nonsense	probably null
R3435:Iqgap3	UTSW	3	88094604	missense	probably benign	0.00
R3522:Iqgap3	UTSW	3	88090782	missense	probably null	0.90
R4281:Iqgap3	UTSW	3	88098860	missense	probably benign	0.19
R4283:Iqgap3	UTSW	3	88098860	missense	probably benign	0.19
R4397:Iqgap3	UTSW	3	88104358	missense	probably damaging	1.00
R4414:Iqgap3	UTSW	3	88096986	missense	probably benign
R4660:Iqgap3	UTSW	3	88120176	missense	probably damaging	1.00
R4872:Iqgap3	UTSW	3	88113128	missense	probably damaging	0.99
R4883:Iqgap3	UTSW	3	88107535	missense	probably benign
R4915:Iqgap3	UTSW	3	88101527	missense	possibly damaging	0.51
R5050:Iqgap3	UTSW	3	88090186	missense	probably damaging	1.00
R5130:Iqgap3	UTSW	3	88108854	missense	probably damaging	0.97
R5151:Iqgap3	UTSW	3	88117760	missense	possibly damaging	0.58
R5645:Iqgap3	UTSW	3	88117699	missense	probably damaging	1.00
R5706:Iqgap3	UTSW	3	88115908	missense	probably benign	0.03
R5748:Iqgap3	UTSW	3	88109370	missense	probably damaging	1.00
R5880:Iqgap3	UTSW	3	88117202	missense	possibly damaging	0.67
R5982:Iqgap3	UTSW	3	88091592	nonsense	probably null
R6006:Iqgap3	UTSW	3	88091547	missense	probably damaging	0.98
R6026:Iqgap3	UTSW	3	88090171	missense	probably damaging	1.00
R6188:Iqgap3	UTSW	3	88098893	missense	probably benign	0.00
R6211:Iqgap3	UTSW	3	88091515	missense	probably benign
R6291:Iqgap3	UTSW	3	88089730	critical splice donor site	probably null
R6344:Iqgap3	UTSW	3	88082094	critical splice donor site	probably null
R6854:Iqgap3	UTSW	3	88096951	missense	probably damaging	1.00
R6875:Iqgap3	UTSW	3	88112771	frame shift	probably null
R6877:Iqgap3	UTSW	3	88112771	frame shift	probably null
R6958:Iqgap3	UTSW	3	88113366	missense	possibly damaging	0.89
R7008:Iqgap3	UTSW	3	88112771	frame shift	probably null
R7050:Iqgap3	UTSW	3	88098913	missense	probably damaging	1.00
R7144:Iqgap3	UTSW	3	88116910	missense	probably damaging	1.00
R7170:Iqgap3	UTSW	3	88102063	missense	probably damaging	1.00
R7288:Iqgap3	UTSW	3	88108835	missense	probably damaging	1.00
R7952:Iqgap3	UTSW	3	88098370	missense	probably benign
R8008:Iqgap3	UTSW	3	88109463	missense	probably damaging	0.98
R8049:Iqgap3	UTSW	3	88104302	missense	probably damaging	1.00
R8176:Iqgap3	UTSW	3	88094650	missense	probably damaging	0.96
R8190:Iqgap3	UTSW	3	88090779	missense	probably damaging	0.98
R8772:Iqgap3	UTSW	3	88089837	missense	probably benign	0.05
R8878:Iqgap3	UTSW	3	88113225	missense	probably damaging	1.00
R8893:Iqgap3	UTSW	3	88089886	missense	probably damaging	1.00
R9072:Iqgap3	UTSW	3	88109466	missense
R9072:Iqgap3	UTSW	3	88091576	missense	probably benign
R9073:Iqgap3	UTSW	3	88109466	missense
R9337:Iqgap3	UTSW	3	88116118	critical splice donor site	probably null
Z1177:Iqgap3	UTSW	3	88088971	critical splice donor site	probably null

Posted On

2015-04-16