Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03240:Iqgap3'

414250

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: 0.314) question?

Stock #

IGL03240

Quality Score

Status

Chromosome

Chromosomal Location

87989309-88028355 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88022281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 495 (S495P)

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: S1393P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000071715
Gene: ENSMUSG00000028068
AA Change: S1393P

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: S495P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000142035
Gene: ENSMUSG00000028068
AA Change: S495P

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	C	3: 124,350,365 (GRCm39)		probably benign	Het
AA467197	A	G	2: 122,481,182 (GRCm39)	T57A	probably benign	Het
Akap11	A	T	14: 78,733,345 (GRCm39)	D1852E	probably damaging	Het
Arg2	T	A	12: 79,178,605 (GRCm39)		probably null	Het
Arhgef4	A	G	1: 34,845,107 (GRCm39)	D1437G	probably benign	Het
AW551984	C	A	9: 39,500,418 (GRCm39)	R780L	probably benign	Het
Baz1a	T	A	12: 54,974,352 (GRCm39)	K503*	probably null	Het
Bltp3a	C	A	17: 28,112,227 (GRCm39)	N1167K	probably benign	Het
Cdk2ap1	A	T	5: 124,484,207 (GRCm39)	H96Q	probably damaging	Het
Col11a1	T	A	3: 114,010,859 (GRCm39)		probably null	Het
Col12a1	A	T	9: 79,585,665 (GRCm39)		probably null	Het
Col22a1	G	A	15: 71,679,777 (GRCm39)	P877S	unknown	Het
Col7a1	A	T	9: 108,797,441 (GRCm39)	N1681Y	probably null	Het
Dennd1b	T	G	1: 139,067,130 (GRCm39)	S398A	possibly damaging	Het
Fgd2	C	T	17: 29,580,135 (GRCm39)		probably benign	Het
Hadh	T	C	3: 131,042,192 (GRCm39)	S98G	probably benign	Het
Has2	C	T	15: 56,531,656 (GRCm39)	R353H	probably damaging	Het
Heg1	T	C	16: 33,547,783 (GRCm39)	S857P	probably benign	Het
Hemgn	T	A	4: 46,400,732 (GRCm39)	R43*	probably null	Het
Htr4	A	T	18: 62,570,692 (GRCm39)	H249L	possibly damaging	Het
Hycc2	A	G	1: 58,569,076 (GRCm39)	L501P	probably damaging	Het
Kars1	T	C	8: 112,732,271 (GRCm39)	D99G	probably benign	Het
Krt40	T	A	11: 99,428,394 (GRCm39)	S333C	probably damaging	Het
Lamc2	T	C	1: 152,999,871 (GRCm39)	I1163V	probably damaging	Het
Lrrn2	A	T	1: 132,866,065 (GRCm39)	I377F	possibly damaging	Het
Mcm5	T	A	8: 75,842,530 (GRCm39)	I268N	probably damaging	Het
Mmp21	G	T	7: 133,276,300 (GRCm39)	H514Q	probably damaging	Het
Mtcl1	G	A	17: 66,645,014 (GRCm39)	P1478S	probably damaging	Het
Mybbp1a	A	G	11: 72,336,492 (GRCm39)	T495A	possibly damaging	Het
Myo10	T	A	15: 25,701,688 (GRCm39)	V21E	probably damaging	Het
Nap1l4	A	G	7: 143,091,982 (GRCm39)	S49P	probably benign	Het
Ncoa2	G	A	1: 13,247,316 (GRCm39)	S369F	probably damaging	Het
Niban2	A	C	2: 32,812,109 (GRCm39)	Y397S	probably benign	Het
Or5g9	A	T	2: 85,552,675 (GRCm39)	K309*	probably null	Het
Pon2	A	G	6: 5,265,316 (GRCm39)		probably benign	Het
Ppdpf	T	C	2: 180,829,673 (GRCm39)	S43P	probably benign	Het
Psmd6	A	G	14: 14,112,393 (GRCm38)		probably benign	Het
Ptprk	G	T	10: 28,368,957 (GRCm39)	R643L	probably damaging	Het
Ptprq	T	A	10: 107,524,368 (GRCm39)	Y455F	probably benign	Het
Sec23b	G	A	2: 144,408,679 (GRCm39)		probably benign	Het
Sh3pxd2a	A	G	19: 47,256,465 (GRCm39)	L751P	probably damaging	Het
Snx6	T	A	12: 54,830,228 (GRCm39)	H77L	probably damaging	Het
Svep1	C	A	4: 58,048,188 (GRCm39)	C3472F	possibly damaging	Het
Trpd52l3	A	T	19: 29,981,396 (GRCm39)	E50D	probably damaging	Het
Ttc33	A	G	15: 5,246,809 (GRCm39)	D205G	probably damaging	Het
Tubgcp3	A	T	8: 12,699,797 (GRCm39)	V352E	probably benign	Het
Tulp2	T	G	7: 45,171,734 (GRCm39)	F436C	probably damaging	Het
Vmn1r123	T	A	7: 20,896,282 (GRCm39)	M58K	possibly damaging	Het
Vmn2r113	T	C	17: 23,174,931 (GRCm39)	V514A	probably benign	Het
Vps13c	T	C	9: 67,862,329 (GRCm39)	V2982A	probably benign	Het
Ywhaq	T	C	12: 21,445,001 (GRCm39)	T215A	possibly damaging	Het
Zfp677	A	T	17: 21,617,135 (GRCm39)	H64L	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
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
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

Posted On

2016-08-02