Mutagenetix > Incidental Mutation

Incidental Mutation 'R6344:Iqgap3'

514041

Institutional Source

Beutler Lab

Gene Symbol

Iqgap3

Ensembl Gene

ENSMUSG00000028068

Gene Name

IQ motif containing GTPase activating protein 3

Synonyms

MMRRC Submission

044498-MU

Accession Numbers

Essential gene?

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

Stock #

R6344 (G1)

Quality Score

174.009

Status

Not validated

Chromosome

Chromosomal Location

87989309-88028355 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 87989401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000071715 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050258] [ENSMUST00000071812] [ENSMUST00000195465]

AlphaFold

F8VQ29

Predicted Effect

probably benign
Transcript: ENSMUST00000050258

SMART Domains

Protein: ENSMUSP00000061571
Gene: ENSMUSG00000051036

Domain	Start	End	E-Value	Type
TPR	35	68	3.5e0	SMART
TPR	72	105	4.09e-1	SMART
TPR	112	145	3.41e1	SMART
TPR	152	185	6.95e-4	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000071812

SMART Domains

Protein: ENSMUSP00000071715
Gene: ENSMUSG00000028068

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

noncoding transcript
Transcript: ENSMUST00000193861

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193940

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

0.9483

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.3%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	C	T	2: 25,327,706 (GRCm39)	P707L	probably damaging	Het
Bbip1	A	G	19: 53,919,912 (GRCm39)	V23A	probably benign	Het
Bdnf	A	T	2: 109,554,022 (GRCm39)	Y132F	probably benign	Het
C4bp	T	C	1: 130,583,752 (GRCm39)	D72G	probably benign	Het
Cdcp1	T	A	9: 123,011,447 (GRCm39)	K343N	possibly damaging	Het
Cep112	A	T	11: 108,410,000 (GRCm39)	Y472F	probably damaging	Het
Cops2	A	T	2: 125,700,899 (GRCm39)		probably benign	Het
Cyp27a1	T	C	1: 74,776,008 (GRCm39)		probably null	Het
Dnah7a	T	C	1: 53,436,349 (GRCm39)	I3998V	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dnhd1	A	G	7: 105,343,817 (GRCm39)	I1720M	probably benign	Het
Fkbpl	A	G	17: 34,864,544 (GRCm39)	K104R	probably damaging	Het
Helq	G	T	5: 100,914,594 (GRCm39)	A966E	probably benign	Het
Iba57	G	A	11: 59,049,119 (GRCm39)	P350L	probably damaging	Het
Kcnj9	A	G	1: 172,153,713 (GRCm39)	V137A	probably benign	Het
Kif19a	G	A	11: 114,672,777 (GRCm39)		probably null	Het
Kmt2a	A	T	9: 44,733,156 (GRCm39)		probably benign	Het
Lilra5	T	A	7: 4,241,785 (GRCm39)	F195I	probably damaging	Het
Mcm9	A	G	10: 53,414,033 (GRCm39)	I349T	probably benign	Het
Mlst8	A	G	17: 24,696,300 (GRCm39)	L143P	probably damaging	Het
Mrc1	T	C	2: 14,248,985 (GRCm39)	F174L	probably damaging	Het
Muc5b	T	A	7: 141,416,708 (GRCm39)	L3218Q	possibly damaging	Het
Myo1h	A	G	5: 114,466,776 (GRCm39)	S275G	probably damaging	Het
Myo5a	T	A	9: 75,067,791 (GRCm39)	V615D	probably benign	Het
Myo9b	T	C	8: 71,780,558 (GRCm39)	L485P	probably damaging	Het
Nav1	A	G	1: 135,378,534 (GRCm39)	Y1646H	probably damaging	Het
Nsf	A	T	11: 103,752,730 (GRCm39)	V539D	probably damaging	Het
Nutm1	A	T	2: 112,079,247 (GRCm39)	N889K	possibly damaging	Het
Or2n1b	C	T	17: 38,459,611 (GRCm39)	A44V	probably benign	Het
Or55b3	A	G	7: 102,126,738 (GRCm39)	L113P	probably damaging	Het
Pcdhga2	T	A	18: 37,803,815 (GRCm39)	V553E	probably benign	Het
Pkmyt1	T	C	17: 23,951,730 (GRCm39)	S95P	possibly damaging	Het
Ranbp2	T	A	10: 58,319,708 (GRCm39)		probably null	Het
Saxo2	T	A	7: 82,284,073 (GRCm39)	I262F	probably damaging	Het
Sco1	C	T	11: 66,946,571 (GRCm39)	R115W	probably damaging	Het
Slc27a3	G	T	3: 90,294,961 (GRCm39)	Y330*	probably null	Het
Slc6a4	C	T	11: 76,909,080 (GRCm39)	T364I	probably damaging	Het
Slit2	A	G	5: 48,377,023 (GRCm39)	I388V	probably benign	Het
Smc6	C	A	12: 11,347,107 (GRCm39)		probably benign	Het
Snx25	C	T	8: 46,488,675 (GRCm39)	W747*	probably null	Het
Stard9	T	A	2: 120,534,801 (GRCm39)	M3686K	probably benign	Het
Syne1	T	C	10: 4,972,212 (GRCm39)	D8732G	probably benign	Het
Tcaf3	A	G	6: 42,574,105 (GRCm39)	S36P	possibly damaging	Het
Trpv6	T	C	6: 41,602,356 (GRCm39)		probably null	Het
Tspear	T	C	10: 77,710,847 (GRCm39)	F490L	possibly damaging	Het
Ttn	A	G	2: 76,552,196 (GRCm39)	I31147T	probably damaging	Het
Ugt3a1	A	C	15: 9,306,317 (GRCm39)	E155D	probably damaging	Het
Urb2	G	T	8: 124,757,864 (GRCm39)	E1190D	probably damaging	Het
Washc2	G	T	6: 116,235,719 (GRCm39)	Q977H	probably benign	Het
Yars2	T	A	16: 16,120,899 (GRCm39)	W18R	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
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'- GCTAGCTCACGATCTCTAAGAG -3'
(R):5'- ACTGCTGAGTTTTAAGGGGCC -3'

Sequencing Primer
(F):5'- GCTCACGATCTCTAAGAGGAACTAC -3'
(R):5'- GGGGCCATTTAGATCATCTAGACTC -3'

Posted On

2018-04-27