Mutagenetix > Incidental Mutation

Incidental Mutation 'R9072:Iqgap3'

689584

Institutional Source

Beutler Lab

Gene Symbol

Iqgap3

Ensembl Gene

ENSMUSG00000028068

Gene Name

IQ motif containing GTPase activating protein 3

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.340) question?

Stock #

R9072 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88081971-88121048 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88109466 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1085 (N1085S)

Ref Sequence

ENSEMBL: ENSMUSP00000071715 (fasta)

Gene Model

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

AlphaFold

F8VQ29

Predicted Effect

SMART Domains

Protein: ENSMUSP00000071715
Gene: ENSMUSG00000028068
AA Change: N1085S

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 damaging
Transcript: ENSMUST00000194440
AA Change: N187S

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

SMART Domains

Protein: ENSMUSP00000142035
Gene: ENSMUSG00000028068
AA Change: N187S

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,944,392	Y190*	probably null	Het
Agbl3	T	C	6: 34,799,452	C298R	probably damaging	Het
Ankrd26	T	A	6: 118,523,389	K1040N	probably damaging	Het
Ano3	T	A	2: 110,745,898	T93S	probably benign	Het
Apoc3	T	A	9: 46,233,234	I97F	probably benign	Het
Arid5a	A	G	1: 36,319,545	E401G	probably benign	Het
Atxn3	T	C	12: 101,937,471		probably null	Het
Brca1	C	T	11: 101,502,480		probably null	Het
C1ql3	T	A	2: 13,010,387	N154I	probably damaging	Het
Ccdc110	A	T	8: 45,942,838	M589L	probably benign	Het
Ccnb2	A	T	9: 70,410,813	F226I	possibly damaging	Het
Commd8	TTGTCATCT	TT	5: 72,160,984		probably null	Het
Dis3	T	C	14: 99,095,211	T262A	probably benign	Het
Eif4a2	G	A	16: 23,110,653	R234Q	probably benign	Het
Ephx2	G	A	14: 66,086,239	R481*	probably null	Het
Fbxo15	T	C	18: 84,965,520	I331T	possibly damaging	Het
Gfra2	A	G	14: 70,901,495	E121G	possibly damaging	Het
Git1	G	A	11: 77,499,075	A55T	probably benign	Het
Hfm1	T	C	5: 106,898,280	I553V	probably benign	Het
Hydin	G	A	8: 110,267,451		probably null	Het
Kbtbd12	T	C	6: 88,618,440	Y136C	probably damaging	Het
Kcng3	A	G	17: 83,630,994	Y209H	possibly damaging	Het
Kcnj2	A	T	11: 111,071,838	M19L	possibly damaging	Het
Lonrf2	A	T	1: 38,811,786	F232I	probably damaging	Het
Lrrc31	T	C	3: 30,699,710	D14G	probably benign	Het
Ly6l	G	A	15: 75,449,736	V62I	possibly damaging	Het
March8	T	C	6: 116,401,923	F273L	probably benign	Het
Masp1	A	C	16: 23,469,921	S710A	probably benign	Het
Mcm10	G	A	2: 5,008,603	R73C	possibly damaging	Het
Mcm5	G	A	8: 75,126,306	R682H	probably damaging	Het
Mink1	C	T	11: 70,608,381	T684I	possibly damaging	Het
Mocos	A	T	18: 24,664,032	Q83L	probably damaging	Het
Nags	T	C	11: 102,147,521	L351P	probably damaging	Het
Nalcn	G	A	14: 123,295,451	T1299I	possibly damaging	Het
Nlrp4b	A	G	7: 10,725,943	D824G	probably benign	Het
Nwd1	A	T	8: 72,695,418	M1031L	probably benign	Het
Olfr1164	T	A	2: 88,093,828	Q36L	probably benign	Het
Olfr1188	A	C	2: 88,560,314	I271L	probably benign	Het
Olfr1286	A	T	2: 111,420,360	I197N	possibly damaging	Het
Olfr1466	A	G	19: 13,341,874	T39A	possibly damaging	Het
Olfr657	C	T	7: 104,636,084	R137C	probably benign	Het
Olfr743	C	T	14: 50,533,754	T114I	probably benign	Het
Pan2	T	C	10: 128,315,181	M807T	probably damaging	Het
Parp8	A	T	13: 116,911,415	I222N	probably damaging	Het
Pmm1	C	T	15: 81,955,695	R143H	probably damaging	Het
Pou1f1	T	C	16: 65,531,947	L186P		Het
Ppargc1b	G	A	18: 61,310,659	R494W	probably damaging	Het
Prg4	G	T	1: 150,455,537	P462T	unknown	Het
Ptcd1	T	A	5: 145,154,715	I525L	probably benign	Het
Ptchd4	A	T	17: 42,502,759	Y517F	probably damaging	Het
Pum1	T	C	4: 130,752,861	F693S	probably damaging	Het
Ribc2	A	C	15: 85,137,962	Q186P	probably damaging	Het
Sesn2	C	A	4: 132,496,884		probably null	Het
Sgf29	G	A	7: 126,672,654	V284M	probably damaging	Het
Skap2	C	T	6: 51,879,770		probably null	Het
Smap1	T	A	1: 23,922,073	E28V	probably damaging	Het
Smc3	A	G	19: 53,628,769	N538D	probably benign	Het
Spen	T	C	4: 141,476,391	T1642A	unknown	Het
Spred3	G	A	7: 29,166,530	R115*	probably null	Het
Sugt1	T	A	14: 79,628,853	M304K	possibly damaging	Het
Sval1	T	C	6: 41,951,672	I6T	possibly damaging	Het
Svil	T	C	18: 5,097,500	I1574T	probably benign	Het
Tinag	T	A	9: 76,997,018		probably null	Het
Trak1	T	C	9: 121,460,488	L622P	probably damaging	Het
Ttn	C	T	2: 76,755,874	D21838N	probably damaging	Het
Ttn	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	2: 76,915,806		probably benign	Het
Vmn1r43	G	A	6: 89,869,895	T203M	probably damaging	Het
Vmn1r73	C	T	7: 11,756,276	A7V	probably benign	Het
Yy1	G	T	12: 108,793,995	G195C	probably benign	Het
Zbtb17	T	A	4: 141,466,365	C607S	possibly damaging	Het
Zfp735	T	C	11: 73,712,234	V668A	probably benign	Het
Zfp819	C	A	7: 43,617,146	T351K	probably damaging	Het
Zfp820	C	A	17: 21,820,050	S99I	possibly damaging	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
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	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

Predicted Primers

PCR Primer
(F):5'- CCTCCTTAAAGGCATGAGGC -3'
(R):5'- TCTTTGTAAACTGTGGTAGCAGAG -3'

Sequencing Primer
(F):5'- ATGAGGCCAGTGACCTATTGCAC -3'
(R):5'- GAGAAAGTCATGGCCCAAGTCTC -3'

Posted On

2021-11-19