Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02971:Iqgap3'

365816

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

Essential gene?

Possibly non essential (E-score: 0.274) question?

Stock #

IGL02971

Quality Score

Status

Chromosome

Chromosomal Location

88081971-88121048 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88090304 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 262 (N262K)

Ref Sequence

ENSEMBL: ENSMUSP00000142013 (fasta)

Gene Model

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

AlphaFold

F8VQ29

Predicted Effect

probably benign
Transcript: ENSMUST00000071812
AA Change: N262K

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000071715
Gene: ENSMUSG00000028068
AA Change: N262K

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

noncoding transcript
Transcript: ENSMUST00000193861

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193940

Predicted Effect

probably benign
Transcript: ENSMUST00000195465
AA Change: N262K

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000142013
Gene: ENSMUSG00000028068
AA Change: N262K

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
A930018P22Rik	C	T	2: 104,123,219	T130I	probably benign	Het
Ahi1	T	C	10: 21,000,551	L787P	possibly damaging	Het
Atf3	A	G	1: 191,177,443	S10P	probably benign	Het
Cdr2l	A	G	11: 115,390,900	N77S	probably damaging	Het
Cnp	A	G	11: 100,576,699	D156G	probably benign	Het
Cntn3	A	T	6: 102,168,933	D982E	probably damaging	Het
Col22a1	A	G	15: 72,006,738	L190S	probably damaging	Het
Csmd3	C	T	15: 47,913,929		probably benign	Het
Dnah5	A	G	15: 28,384,461	D3117G	probably damaging	Het
Dock5	T	C	14: 67,757,109	E1834G	probably null	Het
Eea1	A	G	10: 96,041,527	T1368A	probably benign	Het
Fam83f	T	C	15: 80,672,149	V78A	probably benign	Het
Fcgbp	G	A	7: 28,101,473	V1315I	probably damaging	Het
Fsd2	A	T	7: 81,548,923	Y364*	probably null	Het
Gm21976	G	A	13: 98,302,549	G16R	probably null	Het
Guca2b	A	G	4: 119,657,688	S59P	probably damaging	Het
Hars2	A	G	18: 36,786,178	E123G	probably damaging	Het
Hdac2	A	T	10: 37,000,374	K462*	probably null	Het
Huwe1	T	A	X: 151,927,626		probably benign	Het
Kat6b	A	G	14: 21,669,758	S1502G	probably damaging	Het
Mapkapk3	A	T	9: 107,257,080	D328E	probably benign	Het
Mgea5	A	G	19: 45,762,243	F671S	probably damaging	Het
Naca	C	T	10: 128,041,568		probably benign	Het
Npffr1	T	C	10: 61,614,139	V64A	probably damaging	Het
Olfr331	A	G	11: 58,502,385	L57P	probably damaging	Het
Olfr918	T	A	9: 38,673,268	M72L	probably damaging	Het
Pcca	A	G	14: 122,889,533	D718G	probably damaging	Het
Pde6a	A	C	18: 61,264,255	D670A	probably damaging	Het
Pramel7	T	A	2: 87,490,073	E292V	probably benign	Het
Prmt9	A	C	8: 77,565,069	M357L	probably benign	Het
Ptgfr	A	T	3: 151,835,326	S182T	probably benign	Het
Rtraf	A	T	14: 19,816,192	M152K	possibly damaging	Het
Satb1	T	C	17: 51,742,689	D579G	possibly damaging	Het
Serpinb6a	A	G	13: 33,931,470		probably null	Het
Slc5a9	T	C	4: 111,890,300	I297V	possibly damaging	Het
Slf1	T	A	13: 77,047,104		probably benign	Het
St8sia2	C	T	7: 73,966,811	V139M	probably damaging	Het
Tas2r114	T	C	6: 131,689,280	M262V	probably benign	Het
Tmem147	A	G	7: 30,729,422		probably benign	Het
Tmem220	A	G	11: 67,034,107		probably null	Het
Uspl1	A	G	5: 149,188,346	N35S	possibly damaging	Het
Vmn1r170	A	T	7: 23,606,334	I54F	possibly damaging	Het
Vmn2r121	T	G	X: 124,127,894	I810L	probably damaging	Het
Wbp2nl	A	T	15: 82,305,744	T46S	possibly damaging	Het
Zfp955b	T	A	17: 33,300,966	M57K	probably benign	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
IGL02352:Iqgap3	APN	3	88101960	missense	probably benign	0.00
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
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
R9489:Iqgap3	UTSW	3	88108869	missense	probably damaging	1.00
R9492:Iqgap3	UTSW	3	88108869	missense	probably damaging	1.00
R9593:Iqgap3	UTSW	3	88104350	missense	probably damaging	1.00
R9655:Iqgap3	UTSW	3	88109421	missense	possibly damaging	0.53
R9708:Iqgap3	UTSW	3	88108869	missense	probably damaging	1.00
R9709:Iqgap3	UTSW	3	88108869	missense	probably damaging	1.00
R9752:Iqgap3	UTSW	3	88108869	missense	probably damaging	1.00
R9753:Iqgap3	UTSW	3	88108869	missense	probably damaging	1.00
R9765:Iqgap3	UTSW	3	88110054	missense	possibly damaging	0.47
R9771:Iqgap3	UTSW	3	88108869	missense	probably damaging	1.00
R9772:Iqgap3	UTSW	3	88108869	missense	probably damaging	1.00
Z1177:Iqgap3	UTSW	3	88088971	critical splice donor site	probably null

Posted On

2015-12-18