Mutagenetix > Incidental Mutation

Incidental Mutation 'R6875:Iqgap3'

536355

Institutional Source

Beutler Lab

Gene Symbol

Iqgap3

Ensembl Gene

ENSMUSG00000028068

Gene Name

IQ motif containing GTPase activating protein 3

Synonyms

MMRRC Submission

044971-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.333) question?

Stock #

R6875 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

88081971-88121048 bp(+) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

GGAGAG to GGAG at 88112771 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142035 (fasta)

Gene Model

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

AlphaFold

F8VQ29

Predicted Effect

probably null
Transcript: ENSMUST00000071812
AA Change: 1229

SMART Domains

Protein: ENSMUSP00000071715
Gene: ENSMUSG00000028068
AA Change: 1229

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 null
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

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

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030458C11Rik	T	C	15: 12,812,068	H270R	probably damaging	Het
Abcb1a	T	C	5: 8,701,628	I336T	probably benign	Het
Adam19	T	A	11: 46,112,875	F177I	probably benign	Het
Ankrd53	T	C	6: 83,768,173	V455A	probably damaging	Het
Arrdc1	A	G	2: 24,925,665	S415P	probably benign	Het
Atp10a	T	C	7: 58,797,352	L614P	probably benign	Het
C130060K24Rik	A	T	6: 65,456,336	N380I	probably benign	Het
Catsper1	G	T	19: 5,343,963	V668F	probably damaging	Het
Cluh	T	A	11: 74,661,918	D596E	probably damaging	Het
Cnot10	A	G	9: 114,615,107	S407P	probably benign	Het
Commd6	T	C	14: 101,634,350	T86A	probably damaging	Het
D5Ertd579e	A	T	5: 36,604,657		probably null	Het
Eif3l	A	G	15: 79,085,560	D252G	probably damaging	Het
Epha2	A	T	4: 141,328,468	S962C	probably damaging	Het
Fcho1	C	A	8: 71,714,425		probably null	Het
Fgf23	G	T	6: 127,073,216	G63C	probably damaging	Het
Flnc	A	T	6: 29,445,749	Y834F	probably damaging	Het
Gcn1l1	T	C	5: 115,588,110	L608P	probably damaging	Het
Hdac5	T	A	11: 102,202,276	E545V	probably damaging	Het
Hecw2	A	T	1: 53,937,132	M166K	probably benign	Het
Ikbkb	T	C	8: 22,665,893	D586G	probably damaging	Het
Il1f9	G	C	2: 24,188,621		probably null	Het
Ipo13	A	T	4: 117,904,911	I422N	possibly damaging	Het
Kat6a	G	A	8: 22,932,361	A896T	probably benign	Het
Kif28	A	G	1: 179,735,994	I139T	probably damaging	Het
Klhl25	A	G	7: 75,866,342	E332G	probably damaging	Het
Krt8	C	T	15: 101,997,908	A389T	probably benign	Het
Msrb3	T	C	10: 120,784,106	S175G	probably benign	Het
Muc5ac	C	T	7: 141,809,744		probably benign	Het
Myo10	T	C	15: 25,805,659	Y1709H	probably benign	Het
Nckap5	A	G	1: 126,023,194	S1519P	probably benign	Het
Npnt	T	A	3: 132,909,910	D124V	probably damaging	Het
Nr1d1	A	T	11: 98,770,836		probably null	Het
Ogdh	A	G	11: 6,340,477	Y365C	probably benign	Het
Olfr1305	A	T	2: 111,872,961	I298N	possibly damaging	Het
Phf21b	A	T	15: 84,787,446	C416S	probably damaging	Het
Prpsap1	A	G	11: 116,471,438	S373P	probably damaging	Het
Rab28	T	C	5: 41,703,534	T26A	probably damaging	Het
Rbbp8nl	A	G	2: 180,279,226	I455T	probably benign	Het
Rnft2	G	A	5: 118,228,818	A285V	possibly damaging	Het
Rrp36	G	T	17: 46,672,371	Q106K	probably benign	Het
Rsf1	CG	CGACGGCGGAG	7: 97,579,908		probably benign	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Scn5a	A	G	9: 119,486,644	L1666P	probably damaging	Het
Siglecf	A	C	7: 43,355,200	T318P	probably benign	Het
Slc22a1	C	T	17: 12,667,305	W147*	probably null	Het
Smchd1	T	C	17: 71,353,506	I1868V	probably damaging	Het
Snx21	A	G	2: 164,791,902	S203G	probably damaging	Het
Srl	T	C	16: 4,482,831	K792R	probably benign	Het
Srrt	A	G	5: 137,298,673	F100S	probably benign	Het
Stard9	G	T	2: 120,697,436	M1391I	probably benign	Het
Syne2	A	G	12: 76,035,630	E119G	probably damaging	Het
Syt11	G	T	3: 88,762,155	S143R	possibly damaging	Het
Tiparp	T	A	3: 65,531,642	H126Q	probably benign	Het
Tulp2	C	A	7: 45,518,614	T150K	probably benign	Het
Ugt2b37	T	A	5: 87,242,429	Y386F	probably benign	Het
Usp31	C	T	7: 121,649,640	W860*	probably null	Het
Zfp317	A	G	9: 19,643,665	R30G	probably damaging	Het
Zfp709	C	A	8: 71,889,007	N93K	possibly damaging	Het

Other mutations in Iqgap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01016:Iqgap3	APN	3	88107560	missense	probably damaging	1.00
IGL01062:Iqgap3	APN	3	88110122	missense	probably benign	0.00
IGL01517:Iqgap3	APN	3	88109396	missense	probably benign	0.09
IGL01530:Iqgap3	APN	3	88112303	critical splice acceptor site	probably null
IGL01658:Iqgap3	APN	3	88115971	missense	possibly damaging	0.89
IGL02027:Iqgap3	APN	3	88087342	missense	possibly damaging	0.67
IGL02352:Iqgap3	APN	3	88101960	missense	probably benign	0.00
IGL02359:Iqgap3	APN	3	88101960	missense	probably benign	0.00
IGL02522:Iqgap3	APN	3	88108398	missense	possibly damaging	0.94
IGL02717:Iqgap3	APN	3	88098359	missense	probably benign	0.01
IGL02971:Iqgap3	APN	3	88090304	missense	probably benign	0.30
IGL03079:Iqgap3	APN	3	88113170	missense	probably benign
IGL03240:Iqgap3	APN	3	88114974	missense	probably benign	0.00
adjutant	UTSW	3	88101527	missense	possibly damaging	0.51
Booster	UTSW	3	88113128	missense	probably damaging	0.99
peso_ligero	UTSW	3	88112771	frame shift	probably null
R0048:Iqgap3	UTSW	3	88115949	missense	probably benign	0.00
R0048:Iqgap3	UTSW	3	88115949	missense	probably benign	0.00
R0285:Iqgap3	UTSW	3	88096990	missense	probably benign	0.11
R0442:Iqgap3	UTSW	3	88115959	missense	probably damaging	0.96
R0490:Iqgap3	UTSW	3	88114056	splice site	probably benign
R0569:Iqgap3	UTSW	3	88090725	splice site	probably benign
R0747:Iqgap3	UTSW	3	88107503	splice site	probably benign
R0843:Iqgap3	UTSW	3	88108431	missense	possibly damaging	0.94
R1260:Iqgap3	UTSW	3	88114023	missense	probably benign
R1465:Iqgap3	UTSW	3	88087309	missense	probably damaging	0.99
R1465:Iqgap3	UTSW	3	88087309	missense	probably damaging	0.99
R1544:Iqgap3	UTSW	3	88098893	missense	probably benign	0.00
R1662:Iqgap3	UTSW	3	88098401	missense	probably benign	0.33
R1686:Iqgap3	UTSW	3	88108356	splice site	probably benign
R1748:Iqgap3	UTSW	3	88113980	missense	possibly damaging	0.92
R1836:Iqgap3	UTSW	3	88108368	missense	probably damaging	1.00
R1972:Iqgap3	UTSW	3	88083928	splice site	probably null
R1973:Iqgap3	UTSW	3	88083928	splice site	probably null
R2051:Iqgap3	UTSW	3	88120167	missense	probably damaging	1.00
R2314:Iqgap3	UTSW	3	88116031	missense	probably benign	0.01
R2352:Iqgap3	UTSW	3	88104508	missense	possibly damaging	0.94
R2857:Iqgap3	UTSW	3	88107596	nonsense	probably null
R2859:Iqgap3	UTSW	3	88107596	nonsense	probably null
R3435:Iqgap3	UTSW	3	88094604	missense	probably benign	0.00
R3522:Iqgap3	UTSW	3	88090782	missense	probably null	0.90
R4281:Iqgap3	UTSW	3	88098860	missense	probably benign	0.19
R4283:Iqgap3	UTSW	3	88098860	missense	probably benign	0.19
R4397:Iqgap3	UTSW	3	88104358	missense	probably damaging	1.00
R4414:Iqgap3	UTSW	3	88096986	missense	probably benign
R4660:Iqgap3	UTSW	3	88120176	missense	probably damaging	1.00
R4872:Iqgap3	UTSW	3	88113128	missense	probably damaging	0.99
R4883:Iqgap3	UTSW	3	88107535	missense	probably benign
R4915:Iqgap3	UTSW	3	88101527	missense	possibly damaging	0.51
R5050:Iqgap3	UTSW	3	88090186	missense	probably damaging	1.00
R5130:Iqgap3	UTSW	3	88108854	missense	probably damaging	0.97
R5151:Iqgap3	UTSW	3	88117760	missense	possibly damaging	0.58
R5645:Iqgap3	UTSW	3	88117699	missense	probably damaging	1.00
R5706:Iqgap3	UTSW	3	88115908	missense	probably benign	0.03
R5748:Iqgap3	UTSW	3	88109370	missense	probably damaging	1.00
R5880:Iqgap3	UTSW	3	88117202	missense	possibly damaging	0.67
R5982:Iqgap3	UTSW	3	88091592	nonsense	probably null
R6006:Iqgap3	UTSW	3	88091547	missense	probably damaging	0.98
R6026:Iqgap3	UTSW	3	88090171	missense	probably damaging	1.00
R6188:Iqgap3	UTSW	3	88098893	missense	probably benign	0.00
R6211:Iqgap3	UTSW	3	88091515	missense	probably benign
R6291:Iqgap3	UTSW	3	88089730	critical splice donor site	probably null
R6344:Iqgap3	UTSW	3	88082094	critical splice donor site	probably null
R6854:Iqgap3	UTSW	3	88096951	missense	probably damaging	1.00
R6877:Iqgap3	UTSW	3	88112771	frame shift	probably null
R6958:Iqgap3	UTSW	3	88113366	missense	possibly damaging	0.89
R7008:Iqgap3	UTSW	3	88112771	frame shift	probably null
R7050:Iqgap3	UTSW	3	88098913	missense	probably damaging	1.00
R7144:Iqgap3	UTSW	3	88116910	missense	probably damaging	1.00
R7170:Iqgap3	UTSW	3	88102063	missense	probably damaging	1.00
R7288:Iqgap3	UTSW	3	88108835	missense	probably damaging	1.00
R7952:Iqgap3	UTSW	3	88098370	missense	probably benign
R8008:Iqgap3	UTSW	3	88109463	missense	probably damaging	0.98
R8049:Iqgap3	UTSW	3	88104302	missense	probably damaging	1.00
R8176:Iqgap3	UTSW	3	88094650	missense	probably damaging	0.96
R8190:Iqgap3	UTSW	3	88090779	missense	probably damaging	0.98
R8772:Iqgap3	UTSW	3	88089837	missense	probably benign	0.05
R8878:Iqgap3	UTSW	3	88113225	missense	probably damaging	1.00
R8893:Iqgap3	UTSW	3	88089886	missense	probably damaging	1.00
R9072:Iqgap3	UTSW	3	88109466	missense
R9072:Iqgap3	UTSW	3	88091576	missense	probably benign
R9073:Iqgap3	UTSW	3	88109466	missense
R9337:Iqgap3	UTSW	3	88116118	critical splice donor site	probably null
R9489:Iqgap3	UTSW	3	88108869	missense	probably damaging	1.00
R9492:Iqgap3	UTSW	3	88108869	missense	probably damaging	1.00
R9593:Iqgap3	UTSW	3	88104350	missense	probably damaging	1.00
R9655:Iqgap3	UTSW	3	88109421	missense	possibly damaging	0.53
R9708:Iqgap3	UTSW	3	88108869	missense	probably damaging	1.00
R9709:Iqgap3	UTSW	3	88108869	missense	probably damaging	1.00
R9752:Iqgap3	UTSW	3	88108869	missense	probably damaging	1.00
R9753:Iqgap3	UTSW	3	88108869	missense	probably damaging	1.00
R9765:Iqgap3	UTSW	3	88110054	missense	possibly damaging	0.47
R9771:Iqgap3	UTSW	3	88108869	missense	probably damaging	1.00
R9772:Iqgap3	UTSW	3	88108869	missense	probably damaging	1.00
Z1177:Iqgap3	UTSW	3	88088971	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GAATTTCTCCTCTGCACTCAGG -3'
(R):5'- ATCAGGTCAGTTCTTGGTCCC -3'

Sequencing Primer
(F):5'- CACTCAGGTGGTTGGGAAC -3'
(R):5'- CAAGCTGGCTTGCTGATGCTC -3'

Posted On

2018-10-18