Mutagenetix > Incidental Mutation

Incidental Mutation 'R9752:Iqgap3'

732556

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: 0.314) question?

Stock #

R9752 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87989309-88028355 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 88016176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 986 (F986L)

Ref Sequence

ENSEMBL: ENSMUSP00000071715 (fasta)

Gene Model

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

AlphaFold

F8VQ29

Predicted Effect

probably damaging
Transcript: ENSMUST00000071812
AA Change: F986L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071715
Gene: ENSMUSG00000028068
AA Change: F986L

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: F88L

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

SMART Domains

Protein: ENSMUSP00000142035
Gene: ENSMUSG00000028068
AA Change: F88L

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: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano2	C	T	6: 125,840,499 (GRCm39)	T390I	probably damaging	Het
Cc2d2b	T	C	19: 40,781,271 (GRCm39)	V772A	probably damaging	Het
Cd109	A	G	9: 78,614,834 (GRCm39)	I1294V	probably benign	Het
Cic	A	G	7: 24,971,403 (GRCm39)	E378G	probably damaging	Het
Clhc1	C	T	11: 29,507,778 (GRCm39)	P175L	probably benign	Het
Clip1	T	C	5: 123,760,009 (GRCm39)	E783G	probably damaging	Het
Cnot1	A	G	8: 96,488,019 (GRCm39)	Y546H	probably damaging	Het
Cog7	C	A	7: 121,580,639 (GRCm39)		probably null	Het
Cr2	T	C	1: 194,823,575 (GRCm39)	T1008A	probably benign	Het
Diaph1	T	C	18: 38,036,124 (GRCm39)	T196A	unknown	Het
Entr1	T	C	2: 26,276,990 (GRCm39)	N247D	probably benign	Het
Flg2	A	T	3: 93,108,467 (GRCm39)	D165V	probably damaging	Het
Fstl1	T	G	16: 37,649,534 (GRCm39)	N249K	probably damaging	Het
Gatad2a	A	G	8: 70,364,839 (GRCm39)	V515A	probably benign	Het
Gbp2b	A	T	3: 142,313,917 (GRCm39)	D399V	probably benign	Het
Gna14	G	A	19: 16,586,781 (GRCm39)	V319I	probably benign	Het
Grip1	A	G	10: 119,871,256 (GRCm39)	D661G	possibly damaging	Het
Gtf3c4	C	A	2: 28,724,126 (GRCm39)	L535F	probably damaging	Het
Haus8	A	C	8: 71,715,731 (GRCm39)	S36A	probably damaging	Het
Hectd4	A	T	5: 121,448,744 (GRCm39)	Y364F	probably benign	Het
Hectd4	C	T	5: 121,472,415 (GRCm39)	A2717V	possibly damaging	Het
Hsf5	C	T	11: 87,513,709 (GRCm39)	T258M	probably benign	Het
Ifi209	A	T	1: 173,472,235 (GRCm39)	I359F	probably damaging	Het
Ighmbp2	A	G	19: 3,324,360 (GRCm39)	V302A	probably benign	Het
Itgav	T	A	2: 83,600,451 (GRCm39)		probably null	Het
Kcp	A	T	6: 29,497,754 (GRCm39)	D502E	probably damaging	Het
Kif15	T	C	9: 122,824,890 (GRCm39)		probably null	Het
Lipo2	C	G	19: 33,723,221 (GRCm39)	K189N	possibly damaging	Het
Lrch4	T	A	5: 137,636,218 (GRCm39)	S390T	probably benign	Het
Mast2	G	T	4: 116,179,508 (GRCm39)	H389N	probably benign	Het
Med13	A	G	11: 86,174,147 (GRCm39)	Y1784H	possibly damaging	Het
Micu3	A	G	8: 40,833,751 (GRCm39)	K462E	possibly damaging	Het
Mrps10	T	C	17: 47,683,572 (GRCm39)		probably null	Het
Msh6	T	C	17: 88,293,963 (GRCm39)	L906P	probably damaging	Het
Nphp4	A	G	4: 152,621,737 (GRCm39)	E531G	probably benign	Het
Nrp2	A	T	1: 62,851,726 (GRCm39)	Y825F	probably benign	Het
Ntn1	C	T	11: 68,276,712 (GRCm39)	V79M	possibly damaging	Het
Nxnl2	A	G	13: 51,325,507 (GRCm39)	D50G	probably damaging	Het
Or1e16	T	A	11: 73,286,479 (GRCm39)	Y123F	possibly damaging	Het
Or2t26	T	C	11: 49,039,681 (GRCm39)	M199T	probably benign	Het
Or52h9	A	T	7: 104,202,530 (GRCm39)	I135F	possibly damaging	Het
Or52r1c	T	A	7: 102,735,669 (GRCm39)	C310S	probably benign	Het
Or6c219	T	C	10: 129,780,990 (GRCm39)	R314G	probably benign	Het
Or7e176	G	A	9: 20,171,204 (GRCm39)	V23I	probably benign	Het
Ppp1r42	A	G	1: 10,073,674 (GRCm39)		probably benign	Het
Ppp4r3a	A	T	12: 101,008,763 (GRCm39)	N692K	probably benign	Het
Prr11	T	C	11: 86,994,416 (GRCm39)	T77A	possibly damaging	Het
Resf1	T	A	6: 149,228,068 (GRCm39)	N371K	probably benign	Het
Rrn3	A	G	16: 13,631,095 (GRCm39)	I644V	probably benign	Het
Scd4	T	C	19: 44,322,475 (GRCm39)	S23P	probably benign	Het
Slc26a2	T	A	18: 61,335,010 (GRCm39)	S148C	probably benign	Het
Slc7a8	T	C	14: 54,995,931 (GRCm39)	E157G	probably benign	Het
Spi1	A	G	2: 90,943,666 (GRCm39)	H70R	probably benign	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,278,612 (GRCm39)		probably benign	Het
Tlr4	A	G	4: 66,757,912 (GRCm39)	N235S	probably benign	Het
Trpc6	C	A	9: 8,643,641 (GRCm39)	S475R	probably benign	Het
Usp34	C	T	11: 23,409,182 (GRCm39)	P2674L	probably benign	Het
Usp48	G	A	4: 137,341,137 (GRCm39)	G379D	probably damaging	Het
Vkorc1l1	T	A	5: 130,011,078 (GRCm39)	C97*	probably null	Het
Wfikkn2	T	C	11: 94,129,211 (GRCm39)	E310G	probably benign	Het
Zfp266	T	A	9: 20,411,496 (GRCm39)	N227I	probably benign	Het
Zfp335	C	T	2: 164,749,347 (GRCm39)		probably null	Het
Zfp677	T	A	17: 21,618,511 (GRCm39)	C523S	probably damaging	Het
Zrsr2	GCTCCTCCTCCTCCTCCT	GCTCCTCCTCCTCCT	X: 162,719,750 (GRCm39)		probably benign	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
R2314:Iqgap3	UTSW	3	88,023,338 (GRCm39)	missense	probably benign	0.01
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
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'- TCCTGAGCATAGGGCCTTTTC -3'
(R):5'- ACCATCCTAGGTGTGTAACAAC -3'

Sequencing Primer
(F):5'- GAGCATAGGGCCTTTTCTTTGCC -3'
(R):5'- TCCTAGGTGTGTAACAACAGCTGC -3'

Posted On

2022-11-14