Mutagenetix > Incidental Mutation

Incidental Mutation 'R1836:Iqgap3'

205259

Institutional Source

Beutler Lab

Gene Symbol

Iqgap3

Ensembl Gene

ENSMUSG00000028068

Gene Name

IQ motif containing GTPase activating protein 3

Synonyms

MMRRC Submission

039863-MU

Accession Numbers

Essential gene?

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

Stock #

R1836 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87989309-88028355 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88015675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 19 (V19D)

Ref Sequence

ENSEMBL: ENSMUSP00000142035 (fasta)

Gene Model

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

AlphaFold

F8VQ29

Predicted Effect

probably damaging
Transcript: ENSMUST00000071812
AA Change: V917D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000071715
Gene: ENSMUSG00000028068
AA Change: V917D

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: V19D

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

SMART Domains

Protein: ENSMUSP00000142035
Gene: ENSMUSG00000028068
AA Change: V19D

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,471,493 (GRCm39)	E966G	probably benign	Het
9330159F19Rik	T	C	10: 29,097,795 (GRCm39)	V64A	probably damaging	Het
Abcb5	G	T	12: 118,831,696 (GRCm39)	Q1219K	possibly damaging	Het
Acox2	A	T	14: 8,248,059 (GRCm38)	C408S	possibly damaging	Het
Acsf3	T	A	8: 123,506,922 (GRCm39)	Y72N	probably damaging	Het
Acss2	T	A	2: 155,400,550 (GRCm39)	Y530N	probably damaging	Het
Adam28	T	C	14: 68,886,870 (GRCm39)	E48G	possibly damaging	Het
Adgrv1	A	C	13: 81,652,232 (GRCm39)	M2957R	probably benign	Het
Adi1	C	A	12: 28,729,562 (GRCm39)	D138E	probably benign	Het
Alk	A	C	17: 72,198,032 (GRCm39)	L1228R	probably damaging	Het
Alms1	T	A	6: 85,655,485 (GRCm39)	S3344T	possibly damaging	Het
Aox1	G	A	1: 58,348,150 (GRCm39)	A623T	probably benign	Het
Arhgef2	C	T	3: 88,546,766 (GRCm39)	T545I	probably damaging	Het
Atp8a2	T	A	14: 60,243,815 (GRCm39)	N630I	possibly damaging	Het
Bcl9	G	T	3: 97,113,186 (GRCm39)	Q1090K	probably damaging	Het
Bdp1	A	G	13: 100,171,653 (GRCm39)	S2152P	probably benign	Het
Birc6	T	A	17: 74,921,385 (GRCm39)	S2155T	probably benign	Het
Camk2b	T	C	11: 5,922,384 (GRCm39)	E488G	probably damaging	Het
Capn9	T	A	8: 125,332,304 (GRCm39)		probably null	Het
Cd209f	A	G	8: 4,154,491 (GRCm39)	S119P	probably damaging	Het
Cep78	T	C	19: 15,946,533 (GRCm39)	E433G	probably damaging	Het
Chid1	G	T	7: 141,106,409 (GRCm39)		probably null	Het
Cldnd2	T	C	7: 43,092,349 (GRCm39)	S129P	possibly damaging	Het
Cobll1	A	T	2: 64,956,580 (GRCm39)	F289Y	probably damaging	Het
Creb1	C	T	1: 64,590,109 (GRCm39)	Q32*	probably null	Het
Creb3l4	G	T	3: 90,146,210 (GRCm39)	S182Y	probably benign	Het
Dgcr2	A	T	16: 17,667,584 (GRCm39)	C292S	probably damaging	Het
Dnah8	T	C	17: 31,093,901 (GRCm39)	V4665A	possibly damaging	Het
Dnah9	A	T	11: 66,009,667 (GRCm39)	M740K	probably benign	Het
Dnmt1	G	A	9: 20,829,542 (GRCm39)	T687I	probably damaging	Het
Ece1	C	T	4: 137,685,312 (GRCm39)	R601W	probably damaging	Het
Echdc2	C	A	4: 108,022,732 (GRCm39)	R3S	probably damaging	Het
Ep400	A	T	5: 110,852,920 (GRCm39)	L1275Q	unknown	Het
Epha6	A	T	16: 60,026,108 (GRCm39)	W445R	probably damaging	Het
Ercc5	T	A	1: 44,220,035 (GRCm39)	S1102R	probably benign	Het
Fam228a	T	G	12: 4,765,620 (GRCm39)	T264P	probably damaging	Het
Fzd6	T	A	15: 38,897,315 (GRCm39)	I488N	probably damaging	Het
Gabrg3	T	G	7: 56,379,389 (GRCm39)	N338H	probably damaging	Het
Gde1	A	G	7: 118,294,357 (GRCm39)	F39L	possibly damaging	Het
Gjb3	G	A	4: 127,220,224 (GRCm39)	R103W	probably damaging	Het
Gm4781	T	A	10: 100,232,582 (GRCm39)		noncoding transcript	Het
Gm4846	T	A	1: 166,311,492 (GRCm39)	T456S	probably benign	Het
Gpx5	A	G	13: 21,471,624 (GRCm39)	I193T	probably benign	Het
H3c2	T	A	13: 23,936,715 (GRCm39)	V118D	probably damaging	Het
Herc2	A	T	7: 55,804,853 (GRCm39)	K2294*	probably null	Het
Itga5	T	C	15: 103,254,441 (GRCm39)	I1006V	probably damaging	Het
Lamb1	C	T	12: 31,351,093 (GRCm39)	T781I	probably benign	Het
Lias	A	G	5: 65,549,686 (GRCm39)	T57A	probably benign	Het
Lin37	C	A	7: 30,256,368 (GRCm39)	R108L	probably damaging	Het
Lrrd1	A	T	5: 3,915,709 (GRCm39)	T769S	probably benign	Het
Mamstr	T	C	7: 45,294,387 (GRCm39)	W414R	probably damaging	Het
Mtmr11	T	G	3: 96,072,103 (GRCm39)	S233R	probably damaging	Het
Myh1	A	T	11: 67,095,648 (GRCm39)	I266F	probably damaging	Het
Myt1	C	A	2: 181,439,068 (GRCm39)	Q197K	probably benign	Het
Naip5	G	T	13: 100,356,195 (GRCm39)	T1140K	probably benign	Het
Ncf2	G	A	1: 152,683,822 (GRCm39)	V14M	probably damaging	Het
Ndufb11b	T	C	15: 81,865,068 (GRCm39)	V103A	probably damaging	Het
Nhsl1	G	T	10: 18,400,653 (GRCm39)	R626S	possibly damaging	Het
Nol12	T	A	15: 78,822,089 (GRCm39)	V108E	probably damaging	Het
Nr1i2	G	T	16: 38,069,644 (GRCm39)	P420Q	probably damaging	Het
Nup155	A	G	15: 8,184,464 (GRCm39)	I1286M	possibly damaging	Het
Ocrl	T	A	X: 47,050,993 (GRCm39)	I74N	probably damaging	Het
Or4c10b	A	C	2: 89,711,629 (GRCm39)	H153P	probably damaging	Het
Or51b17	A	G	7: 103,542,592 (GRCm39)	S117P	probably damaging	Het
Or5ak23	A	G	2: 85,244,749 (GRCm39)	V158A	probably benign	Het
Pard3b	C	T	1: 62,676,763 (GRCm39)	S999L	probably benign	Het
Pax9	A	G	12: 56,746,839 (GRCm39)	E225G	probably benign	Het
Pdcd4	T	G	19: 53,914,650 (GRCm39)	L335R	probably damaging	Het
Pdgfra	T	A	5: 75,343,675 (GRCm39)	M732K	possibly damaging	Het
Pkhd1	G	T	1: 20,187,293 (GRCm39)	Q3672K	probably benign	Het
Pold2	A	G	11: 5,823,454 (GRCm39)	L325P	possibly damaging	Het
Pom121l2	A	T	13: 22,167,954 (GRCm39)	T742S	probably benign	Het
Ppfia1	C	T	7: 144,073,368 (GRCm39)	E208K	probably benign	Het
Prex2	A	T	1: 11,207,004 (GRCm39)	R521W	probably damaging	Het
Prr23a4	C	A	9: 98,785,535 (GRCm39)	R67S	probably benign	Het
Rhpn2	T	C	7: 35,071,813 (GRCm39)	L226P	probably benign	Het
Rps12	C	A	10: 23,661,527 (GRCm39)	D95Y	probably damaging	Het
Sardh	T	A	2: 27,105,194 (GRCm39)	D643V	possibly damaging	Het
Sars1	T	C	3: 108,343,260 (GRCm39)	D77G	probably benign	Het
Scin	C	A	12: 40,174,697 (GRCm39)	V129F	probably damaging	Het
Semp2l1	T	G	1: 32,584,758 (GRCm39)	D384A	probably damaging	Het
Sftpa1	T	A	14: 40,854,803 (GRCm39)	M66K	possibly damaging	Het
Sgo1	T	C	17: 53,994,799 (GRCm39)	K28E	probably damaging	Het
Sim2	G	T	16: 93,924,436 (GRCm39)		probably null	Het
Srp54b	T	A	12: 55,296,945 (GRCm39)		probably null	Het
Stard7	T	C	2: 127,137,480 (GRCm39)	V310A	probably benign	Het
Tasp1	T	C	2: 139,793,477 (GRCm39)	D233G	probably damaging	Het
Tdrd6	G	T	17: 43,936,480 (GRCm39)	L1523M	probably benign	Het
Tle3	A	G	9: 61,321,305 (GRCm39)	D639G	probably damaging	Het
Tmem128	A	G	5: 38,417,750 (GRCm39)	D2G	probably damaging	Het
Tmem163	A	G	1: 127,605,246 (GRCm39)	S41P	probably benign	Het
Ttn	C	T	2: 76,559,505 (GRCm39)	S29632N	probably damaging	Het
Tuba4a	A	G	1: 75,192,754 (GRCm39)	S287P	probably benign	Het
Ubn1	G	C	16: 4,895,255 (GRCm39)	G767A	probably benign	Het
Ugdh	A	T	5: 65,577,634 (GRCm39)	C288*	probably null	Het
Upf2	T	A	2: 6,055,135 (GRCm39)		probably null	Het
Vmn1r2	T	C	4: 3,172,836 (GRCm39)	S252P	probably damaging	Het
Vmn1r28	A	C	6: 58,242,237 (GRCm39)	T27P	probably damaging	Het
Vmn1r77	T	C	7: 11,775,338 (GRCm39)	I38T	probably benign	Het
Vmn2r51	C	A	7: 9,832,090 (GRCm39)	E499*	probably null	Het
Vmn2r51	G	T	7: 9,832,091 (GRCm39)	Y498*	probably null	Het
Vmn2r53	A	T	7: 12,334,812 (GRCm39)	W283R	probably damaging	Het
Vpreb1a	T	A	16: 16,686,933 (GRCm39)	T15S	probably benign	Het
Vps13b	T	C	15: 35,910,378 (GRCm39)	S3381P	probably damaging	Het
Wnt2	A	T	6: 18,023,234 (GRCm39)	D138E	probably damaging	Het
Zdhhc22	A	G	12: 87,030,204 (GRCm39)	V248A	probably benign	Het
Zfp30	T	A	7: 29,492,805 (GRCm39)	I434N	probably damaging	Het
Zfp316	A	G	5: 143,239,178 (GRCm39)	L947P	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
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

Predicted Primers

PCR Primer
(F):5'- GATGCTGCTGTCACGTCTTC -3'
(R):5'- AGAAAAGGCCCTATGCTCAGG -3'

Sequencing Primer
(F):5'- CCCCCATGAGATTGTATATTAGTCG -3'
(R):5'- CCCTATGCTCAGGAGGTGATG -3'

Posted On

2014-06-23