Mutagenetix > Incidental Mutation

Incidental Mutation 'R2314:Iqgap3'

245401

Institutional Source

Beutler Lab

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: 0.342) question?

Stock #

R2314 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87989309-88028355 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88023338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 543 (V543A)

Ref Sequence

ENSEMBL: ENSMUSP00000142035 (fasta)

Gene Model

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

AlphaFold

F8VQ29

Predicted Effect

probably benign
Transcript: ENSMUST00000071812
AA Change: V1441A

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

SMART Domains

Protein: ENSMUSP00000071715
Gene: ENSMUSG00000028068
AA Change: V1441A

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
AA Change: V543A

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

SMART Domains

Protein: ENSMUSP00000142035
Gene: ENSMUSG00000028068
AA Change: V543A

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

noncoding transcript
Transcript: ENSMUST00000194772

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	A	G	9: 4,309,322 (GRCm39)	S39P	probably damaging	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Anxa6	T	A	11: 54,902,561 (GRCm39)	I58F	probably damaging	Het
Ccdc30	T	A	4: 119,181,763 (GRCm39)	K582*	probably null	Het
Cebpz	A	G	17: 79,227,976 (GRCm39)		probably null	Het
Clstn3	T	A	6: 124,427,676 (GRCm39)	D473V	probably benign	Het
Cry1	A	T	10: 84,969,175 (GRCm39)	C550S	probably benign	Het
Dclk2	G	A	3: 86,827,342 (GRCm39)	P46S	probably damaging	Het
Dolk	G	T	2: 30,175,497 (GRCm39)	L183M	probably damaging	Het
Dpys	T	C	15: 39,691,486 (GRCm39)	T279A	possibly damaging	Het
Drd4	T	C	7: 140,873,854 (GRCm39)	Y140H	probably damaging	Het
Duox1	C	A	2: 122,164,211 (GRCm39)	C890*	probably null	Het
Epha2	T	A	4: 141,046,325 (GRCm39)	V508E	probably damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fahd1	A	T	17: 25,068,570 (GRCm39)	I169N	probably damaging	Het
Fgfr1	C	T	8: 26,060,909 (GRCm39)	S527F	probably damaging	Het
Flywch1	A	G	17: 23,982,000 (GRCm39)	V68A	probably benign	Het
Gm21834	A	T	17: 58,049,210 (GRCm39)	V2E	possibly damaging	Het
Gm7853	A	T	14: 35,811,621 (GRCm39)		noncoding transcript	Het
Igf2r	T	A	17: 12,934,830 (GRCm39)	H713L	probably benign	Het
Kcnq5	T	A	1: 21,549,595 (GRCm39)		probably null	Het
Lsm1	C	T	8: 26,275,712 (GRCm39)	P5S	possibly damaging	Het
Marchf1	T	C	8: 66,574,442 (GRCm39)	M1T	probably null	Het
Myocd	T	C	11: 65,091,633 (GRCm39)	H103R	probably damaging	Het
Myom2	C	T	8: 15,113,927 (GRCm39)	T25I	probably damaging	Het
Nck1	T	C	9: 100,380,003 (GRCm39)	K83E	probably damaging	Het
Nid2	A	G	14: 19,839,829 (GRCm39)	D806G	probably benign	Het
Onecut2	G	T	18: 64,474,268 (GRCm39)	R254L	probably damaging	Het
Or51k1	T	A	7: 103,661,436 (GRCm39)	M158L	probably benign	Het
Plxna1	A	C	6: 89,301,298 (GRCm39)	L1534R	probably damaging	Het
Polb	C	A	8: 23,130,018 (GRCm39)	A185S	possibly damaging	Het
Pou3f3	T	C	1: 42,737,651 (GRCm39)	V449A	probably damaging	Het
Pskh1	C	T	8: 106,640,145 (GRCm39)	T275I	probably damaging	Het
Rab18	C	A	18: 6,788,516 (GRCm39)	A161D	probably damaging	Het
Rrp8	T	C	7: 105,384,011 (GRCm39)	R164G	probably benign	Het
Sacs	T	A	14: 61,445,208 (GRCm39)	I2418K	probably benign	Het
Scrn1	T	C	6: 54,502,631 (GRCm39)	E136G	probably benign	Het
Sgk1	C	T	10: 21,872,500 (GRCm39)	R171W	probably damaging	Het
Slitrk6	C	T	14: 110,989,387 (GRCm39)	A107T	probably damaging	Het
Spata31e2	T	C	1: 26,723,783 (GRCm39)	S466G	probably benign	Het
Tktl2	T	A	8: 66,965,795 (GRCm39)	F451Y	probably damaging	Het
Tnks1bp1	G	A	2: 84,889,259 (GRCm39)	V529M	probably benign	Het
Trps1	T	C	15: 50,524,742 (GRCm39)	K874E	probably damaging	Het
Ttll9	T	A	2: 152,825,047 (GRCm39)	D75E	probably benign	Het
Ttn	A	G	2: 76,596,368 (GRCm39)	Y20182H	probably damaging	Het
Ufc1	A	T	1: 171,116,821 (GRCm39)	C116S	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Zfp809	A	G	9: 22,149,976 (GRCm39)	K158E	possibly damaging	Het
Zfp81	A	G	17: 33,553,597 (GRCm39)	Y406H	probably damaging	Het

Other mutations in Iqgap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01016:Iqgap3	APN	3	88,014,867 (GRCm39)	missense	probably damaging	1.00
IGL01062:Iqgap3	APN	3	88,017,429 (GRCm39)	missense	probably benign	0.00
IGL01517:Iqgap3	APN	3	88,016,703 (GRCm39)	missense	probably benign	0.09
IGL01530:Iqgap3	APN	3	88,019,610 (GRCm39)	critical splice acceptor site	probably null
IGL01658:Iqgap3	APN	3	88,023,278 (GRCm39)	missense	possibly damaging	0.89
IGL02027:Iqgap3	APN	3	87,994,649 (GRCm39)	missense	possibly damaging	0.67
IGL02352:Iqgap3	APN	3	88,009,267 (GRCm39)	missense	probably benign	0.00
IGL02359:Iqgap3	APN	3	88,009,267 (GRCm39)	missense	probably benign	0.00
IGL02522:Iqgap3	APN	3	88,015,705 (GRCm39)	missense	possibly damaging	0.94
IGL02717:Iqgap3	APN	3	88,005,666 (GRCm39)	missense	probably benign	0.01
IGL02971:Iqgap3	APN	3	87,997,611 (GRCm39)	missense	probably benign	0.30
IGL03079:Iqgap3	APN	3	88,020,477 (GRCm39)	missense	probably benign
IGL03240:Iqgap3	APN	3	88,022,281 (GRCm39)	missense	probably benign	0.00
adjutant	UTSW	3	88,008,834 (GRCm39)	missense	possibly damaging	0.51
Booster	UTSW	3	88,020,435 (GRCm39)	missense	probably damaging	0.99
peso_ligero	UTSW	3	88,020,078 (GRCm39)	frame shift	probably null
R0048:Iqgap3	UTSW	3	88,023,256 (GRCm39)	missense	probably benign	0.00
R0048:Iqgap3	UTSW	3	88,023,256 (GRCm39)	missense	probably benign	0.00
R0285:Iqgap3	UTSW	3	88,004,297 (GRCm39)	missense	probably benign	0.11
R0442:Iqgap3	UTSW	3	88,023,266 (GRCm39)	missense	probably damaging	0.96
R0490:Iqgap3	UTSW	3	88,021,363 (GRCm39)	splice site	probably benign
R0569:Iqgap3	UTSW	3	87,998,032 (GRCm39)	splice site	probably benign
R0747:Iqgap3	UTSW	3	88,014,810 (GRCm39)	splice site	probably benign
R0843:Iqgap3	UTSW	3	88,015,738 (GRCm39)	missense	possibly damaging	0.94
R1260:Iqgap3	UTSW	3	88,021,330 (GRCm39)	missense	probably benign
R1465:Iqgap3	UTSW	3	87,994,616 (GRCm39)	missense	probably damaging	0.99
R1465:Iqgap3	UTSW	3	87,994,616 (GRCm39)	missense	probably damaging	0.99
R1544:Iqgap3	UTSW	3	88,006,200 (GRCm39)	missense	probably benign	0.00
R1662:Iqgap3	UTSW	3	88,005,708 (GRCm39)	missense	probably benign	0.33
R1686:Iqgap3	UTSW	3	88,015,663 (GRCm39)	splice site	probably benign
R1748:Iqgap3	UTSW	3	88,021,287 (GRCm39)	missense	possibly damaging	0.92
R1836:Iqgap3	UTSW	3	88,015,675 (GRCm39)	missense	probably damaging	1.00
R1972:Iqgap3	UTSW	3	87,991,235 (GRCm39)	splice site	probably null
R1973:Iqgap3	UTSW	3	87,991,235 (GRCm39)	splice site	probably null
R2051:Iqgap3	UTSW	3	88,027,474 (GRCm39)	missense	probably damaging	1.00
R2352:Iqgap3	UTSW	3	88,011,815 (GRCm39)	missense	possibly damaging	0.94
R2857:Iqgap3	UTSW	3	88,014,903 (GRCm39)	nonsense	probably null
R2859:Iqgap3	UTSW	3	88,014,903 (GRCm39)	nonsense	probably null
R3435:Iqgap3	UTSW	3	88,001,911 (GRCm39)	missense	probably benign	0.00
R3522:Iqgap3	UTSW	3	87,998,089 (GRCm39)	missense	probably null	0.90
R4281:Iqgap3	UTSW	3	88,006,167 (GRCm39)	missense	probably benign	0.19
R4283:Iqgap3	UTSW	3	88,006,167 (GRCm39)	missense	probably benign	0.19
R4397:Iqgap3	UTSW	3	88,011,665 (GRCm39)	missense	probably damaging	1.00
R4414:Iqgap3	UTSW	3	88,004,293 (GRCm39)	missense	probably benign
R4660:Iqgap3	UTSW	3	88,027,483 (GRCm39)	missense	probably damaging	1.00
R4872:Iqgap3	UTSW	3	88,020,435 (GRCm39)	missense	probably damaging	0.99
R4883:Iqgap3	UTSW	3	88,014,842 (GRCm39)	missense	probably benign
R4915:Iqgap3	UTSW	3	88,008,834 (GRCm39)	missense	possibly damaging	0.51
R5050:Iqgap3	UTSW	3	87,997,493 (GRCm39)	missense	probably damaging	1.00
R5130:Iqgap3	UTSW	3	88,016,161 (GRCm39)	missense	probably damaging	0.97
R5151:Iqgap3	UTSW	3	88,025,067 (GRCm39)	missense	possibly damaging	0.58
R5645:Iqgap3	UTSW	3	88,025,006 (GRCm39)	missense	probably damaging	1.00
R5706:Iqgap3	UTSW	3	88,023,215 (GRCm39)	missense	probably benign	0.03
R5748:Iqgap3	UTSW	3	88,016,677 (GRCm39)	missense	probably damaging	1.00
R5880:Iqgap3	UTSW	3	88,024,509 (GRCm39)	missense	possibly damaging	0.67
R5982:Iqgap3	UTSW	3	87,998,899 (GRCm39)	nonsense	probably null
R6006:Iqgap3	UTSW	3	87,998,854 (GRCm39)	missense	probably damaging	0.98
R6026:Iqgap3	UTSW	3	87,997,478 (GRCm39)	missense	probably damaging	1.00
R6188:Iqgap3	UTSW	3	88,006,200 (GRCm39)	missense	probably benign	0.00
R6211:Iqgap3	UTSW	3	87,998,822 (GRCm39)	missense	probably benign
R6291:Iqgap3	UTSW	3	87,997,037 (GRCm39)	critical splice donor site	probably null
R6344:Iqgap3	UTSW	3	87,989,401 (GRCm39)	critical splice donor site	probably null
R6854:Iqgap3	UTSW	3	88,004,258 (GRCm39)	missense	probably damaging	1.00
R6875:Iqgap3	UTSW	3	88,020,078 (GRCm39)	frame shift	probably null
R6877:Iqgap3	UTSW	3	88,020,078 (GRCm39)	frame shift	probably null
R6958:Iqgap3	UTSW	3	88,020,673 (GRCm39)	missense	possibly damaging	0.89
R7008:Iqgap3	UTSW	3	88,020,078 (GRCm39)	frame shift	probably null
R7050:Iqgap3	UTSW	3	88,006,220 (GRCm39)	missense	probably damaging	1.00
R7144:Iqgap3	UTSW	3	88,024,217 (GRCm39)	missense	probably damaging	1.00
R7170:Iqgap3	UTSW	3	88,009,370 (GRCm39)	missense	probably damaging	1.00
R7288:Iqgap3	UTSW	3	88,016,142 (GRCm39)	missense	probably damaging	1.00
R7952:Iqgap3	UTSW	3	88,005,677 (GRCm39)	missense	probably benign
R8008:Iqgap3	UTSW	3	88,016,770 (GRCm39)	missense	probably damaging	0.98
R8049:Iqgap3	UTSW	3	88,011,609 (GRCm39)	missense	probably damaging	1.00
R8176:Iqgap3	UTSW	3	88,001,957 (GRCm39)	missense	probably damaging	0.96
R8190:Iqgap3	UTSW	3	87,998,086 (GRCm39)	missense	probably damaging	0.98
R8772:Iqgap3	UTSW	3	87,997,144 (GRCm39)	missense	probably benign	0.05
R8878:Iqgap3	UTSW	3	88,020,532 (GRCm39)	missense	probably damaging	1.00
R8893:Iqgap3	UTSW	3	87,997,193 (GRCm39)	missense	probably damaging	1.00
R9072:Iqgap3	UTSW	3	88,016,773 (GRCm39)	missense
R9072:Iqgap3	UTSW	3	87,998,883 (GRCm39)	missense	probably benign
R9073:Iqgap3	UTSW	3	88,016,773 (GRCm39)	missense
R9337:Iqgap3	UTSW	3	88,023,425 (GRCm39)	critical splice donor site	probably null
R9489:Iqgap3	UTSW	3	88,016,176 (GRCm39)	missense	probably damaging	1.00
R9492:Iqgap3	UTSW	3	88,016,176 (GRCm39)	missense	probably damaging	1.00
R9593:Iqgap3	UTSW	3	88,011,657 (GRCm39)	missense	probably damaging	1.00
R9655:Iqgap3	UTSW	3	88,016,728 (GRCm39)	missense	possibly damaging	0.53
R9708:Iqgap3	UTSW	3	88,016,176 (GRCm39)	missense	probably damaging	1.00
R9709:Iqgap3	UTSW	3	88,016,176 (GRCm39)	missense	probably damaging	1.00
R9752:Iqgap3	UTSW	3	88,016,176 (GRCm39)	missense	probably damaging	1.00
R9753:Iqgap3	UTSW	3	88,016,176 (GRCm39)	missense	probably damaging	1.00
R9765:Iqgap3	UTSW	3	88,017,361 (GRCm39)	missense	possibly damaging	0.47
R9771:Iqgap3	UTSW	3	88,016,176 (GRCm39)	missense	probably damaging	1.00
R9772:Iqgap3	UTSW	3	88,016,176 (GRCm39)	missense	probably damaging	1.00
Z1177:Iqgap3	UTSW	3	87,996,278 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AACGTGAATAGGGCTCCCAG -3'
(R):5'- CCTTTCTCAAGTTGGAGGCAG -3'

Sequencing Primer
(F):5'- CTGAAGTAGGATGTTAGGGCCC -3'
(R):5'- GCAGTTTGGGATGGCACC -3'

Posted On

2014-10-30