Mutagenetix > Incidental Mutation

Incidental Mutation 'R4397:Iqgap3'

325527

Institutional Source

Beutler Lab

Gene Symbol

Iqgap3

Ensembl Gene

ENSMUSG00000028068

Gene Name

IQ motif containing GTPase activating protein 3

Synonyms

MMRRC Submission

041685-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.314) question?

Stock #

R4397 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87989309-88028355 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88011665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 817 (Y817H)

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: Y817H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000071715
Gene: ENSMUSG00000028068
AA Change: Y817H

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

SMART Domains

Protein: ENSMUSP00000142035
Gene: ENSMUSG00000028068

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

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

Meta Mutation Damage Score

0.1796

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

96% (55/57)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg4	T	G	X: 55,977,703 (GRCm39)	L2193V	probably damaging	Het
Agap2	G	A	10: 126,926,352 (GRCm39)	A866T	unknown	Het
Aig1	A	C	10: 13,528,726 (GRCm39)	S237A	probably benign	Het
Baz1b	C	T	5: 135,273,300 (GRCm39)	R1475W	probably damaging	Het
Bmp1	C	T	14: 70,727,982 (GRCm39)		probably null	Het
Crybg3	A	G	16: 59,380,458 (GRCm39)		probably benign	Het
Dnajc15	T	C	14: 78,112,234 (GRCm39)		probably null	Het
Fam135b	T	A	15: 71,320,525 (GRCm39)	H1334L	probably benign	Het
Fancg	A	T	4: 43,008,897 (GRCm39)	H113Q	probably benign	Het
Gfap	G	A	11: 102,787,810 (GRCm39)	A45V	probably benign	Het
Gjd3	A	T	11: 98,873,247 (GRCm39)	L199Q	probably damaging	Het
Gvin-ps3	A	G	7: 105,682,130 (GRCm39)		noncoding transcript	Het
H13	A	G	2: 152,519,472 (GRCm39)	D65G	probably damaging	Het
Hcls1	T	C	16: 36,757,662 (GRCm39)	V5A	possibly damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Iqsec2	C	T	X: 150,992,049 (GRCm39)	T562I	probably damaging	Het
Klb	A	G	5: 65,537,382 (GRCm39)	Y904C	probably damaging	Het
Kremen1	A	T	11: 5,149,610 (GRCm39)	S354T	probably benign	Het
Lamc3	A	G	2: 31,821,964 (GRCm39)	E1304G	probably benign	Het
Lrp4	T	C	2: 91,342,015 (GRCm39)	V1876A	probably benign	Het
Magi3	T	C	3: 104,127,030 (GRCm39)	T85A	probably damaging	Het
Map3k12	C	T	15: 102,409,694 (GRCm39)	A694T	probably benign	Het
Mex3b	T	C	7: 82,519,031 (GRCm39)	S449P	possibly damaging	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Nars2	T	C	7: 96,622,771 (GRCm39)		probably null	Het
Nlrp1a	T	G	11: 70,988,030 (GRCm39)	M1046L	probably benign	Het
Nphs1	T	G	7: 30,181,390 (GRCm39)		probably null	Het
Nup133	G	A	8: 124,671,040 (GRCm39)	T119M	probably benign	Het
Or6c201	G	T	10: 128,969,450 (GRCm39)	N62K	possibly damaging	Het
Pcdhga9	A	T	18: 37,871,694 (GRCm39)	I508F	probably damaging	Het
Phactr3	A	G	2: 177,817,199 (GRCm39)		probably benign	Het
Plcb3	T	C	19: 6,943,193 (GRCm39)	K155E	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Prss38	T	C	11: 59,263,854 (GRCm39)	Y286C	probably damaging	Het
Psg16	T	C	7: 16,824,623 (GRCm39)	S45P	possibly damaging	Het
Ptpn21	G	T	12: 98,654,507 (GRCm39)	P820Q	probably damaging	Het
Ptpn21	A	G	12: 98,681,319 (GRCm39)	V105A	probably damaging	Het
Rnf7	A	G	9: 96,360,463 (GRCm39)	M58T	probably benign	Het
Slc25a11	G	A	11: 70,535,677 (GRCm39)	A287V	probably benign	Het
Slit2	G	T	5: 48,377,423 (GRCm39)		probably null	Het
Suco	A	G	1: 161,672,421 (GRCm39)	Y460H	probably damaging	Het
Tnxb	C	T	17: 34,897,636 (GRCm39)	Q804*	probably null	Het
Trpv6	A	G	6: 41,602,172 (GRCm39)	I379T	possibly damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Virma	A	G	4: 11,513,901 (GRCm39)	E585G	possibly damaging	Het
Vmn2r79	A	G	7: 86,651,099 (GRCm39)	H166R	possibly damaging	Het
Vmn2r88	A	T	14: 51,655,435 (GRCm39)	D549V	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
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
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'- AAGCGAACCTGGATGCTATAATC -3'
(R):5'- TGTAGTCATCACGGGCTTTCC -3'

Sequencing Primer
(F):5'- CTCTTGAGGGATCCTTAGAACAC -3'
(R):5'- TTCCTGGCTCGGAAAAATGC -3'

Posted On

2015-07-06