Mutagenetix > Incidental Mutations

Incidental Mutation 'R8993:Iqsec3'

684540

Institutional Source

Beutler Lab

Gene Symbol

Iqsec3

Ensembl Gene

ENSMUSG00000040797

Gene Name

IQ motif and Sec7 domain 3

Synonyms

synarfGEF, BRAG3

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8993 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121372933-121473678 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121413313 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 400 (T400S)

Ref Sequence

ENSEMBL: ENSMUSP00000038653 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046373] [ENSMUST00000129815] [ENSMUST00000151397] [ENSMUST00000152103]

AlphaFold

Q3TES0

Predicted Effect

unknown
Transcript: ENSMUST00000046373
AA Change: T400S

SMART Domains

Protein: ENSMUSP00000038653
Gene: ENSMUSG00000040797
AA Change: T400S

Domain	Start	End	E-Value	Type
coiled coil region	20	56	N/A	INTRINSIC
low complexity region	57	95	N/A	INTRINSIC
Blast:Sec7	285	354	5e-16	BLAST
low complexity region	367	386	N/A	INTRINSIC
Blast:Sec7	476	507	2e-9	BLAST
low complexity region	508	531	N/A	INTRINSIC
low complexity region	542	594	N/A	INTRINSIC
low complexity region	598	628	N/A	INTRINSIC
Sec7	652	843	9.53e-89	SMART
PH	874	985	4.03e0	SMART
low complexity region	1065	1105	N/A	INTRINSIC
low complexity region	1126	1144	N/A	INTRINSIC
low complexity region	1160	1178	N/A	INTRINSIC
low complexity region	1182	1194	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129815

SMART Domains

Protein: ENSMUSP00000120847
Gene: ENSMUSG00000040797

Domain	Start	End	E-Value	Type
coiled coil region	20	56	N/A	INTRINSIC
low complexity region	57	95	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000151397
AA Change: T400S

SMART Domains

Protein: ENSMUSP00000145523
Gene: ENSMUSG00000040797
AA Change: T400S

Domain	Start	End	E-Value	Type
coiled coil region	20	56	N/A	INTRINSIC
low complexity region	57	95	N/A	INTRINSIC
Blast:Sec7	288	354	2e-16	BLAST
low complexity region	367	386	N/A	INTRINSIC
Blast:Sec7	476	507	9e-10	BLAST
low complexity region	508	531	N/A	INTRINSIC
low complexity region	542	594	N/A	INTRINSIC
low complexity region	598	628	N/A	INTRINSIC
Pfam:Sec7	655	722	6.9e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152103

SMART Domains

Protein: ENSMUSP00000116317
Gene: ENSMUSG00000040797

Domain	Start	End	E-Value	Type
coiled coil region	20	56	N/A	INTRINSIC
low complexity region	57	95	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	T	5: 113,703,781	C92*	probably null	Het
A830018L16Rik	G	T	1: 11,545,267	E155*	probably null	Het
Acaa1a	A	T	9: 119,349,352		probably null	Het
Adcy4	T	C	14: 55,771,378	E864G	probably null	Het
Adcy4	T	C	14: 55,778,699	D387G	probably damaging	Het
Ank1	C	T	8: 23,098,939	H574Y	probably damaging	Het
Arhgef16	C	T	4: 154,287,038	E233K	probably damaging	Het
Arhgef26	A	T	3: 62,448,104	Y699F	probably benign	Het
BB014433	C	T	8: 15,042,101	V251M	probably damaging	Het
Bcan	G	A	3: 87,994,222	A391V	probably benign	Het
Bod1l	A	C	5: 41,816,867	V2368G	probably benign	Het
Braf	A	G	6: 39,662,151	V222A	probably damaging	Het
Cd33	G	T	7: 43,533,447		probably benign	Het
Cdkl2	T	A	5: 92,022,151	K324N	probably damaging	Het
Celf6	A	T	9: 59,602,871	T199S	probably damaging	Het
Cmtm4	A	C	8: 104,355,166	D196E	probably benign	Het
Cntn1	G	A	15: 92,234,466	V148M	probably damaging	Het
Col1a2	C	A	6: 4,535,451	P921H	unknown	Het
Crmp1	T	C	5: 37,242,146	M1T	probably null	Het
Dnah7a	A	T	1: 53,504,103	Y2303N	probably damaging	Het
Dock10	G	T	1: 80,574,171	T650K	probably benign	Het
Fam24a	A	G	7: 131,336,540	D53G	probably benign	Het
Foxa2	A	T	2: 148,044,706	M69K	probably benign	Het
Gatad2a	T	A	8: 69,909,935	H601L	probably damaging	Het
Gimap4	A	C	6: 48,690,605	D98A	probably damaging	Het
Gm14295	G	T	2: 176,809,830	R371L	possibly damaging	Het
Gm5039	A	G	12: 88,321,400	F28L	probably benign	Het
Golim4	G	T	3: 75,878,128	A652E	probably benign	Het
Grid1	A	G	14: 35,026,942	I240V	probably benign	Het
Itk	G	A	11: 46,334,908	R539C	probably damaging	Het
Kdelc1	G	T	1: 44,112,764	L322I	possibly damaging	Het
Kif27	T	A	13: 58,326,098	D695V	possibly damaging	Het
Krt79	T	C	15: 101,931,006		probably benign	Het
Lama2	C	A	10: 27,422,714	V129L	possibly damaging	Het
Lonrf1	C	A	8: 36,229,238	E552D	possibly damaging	Het
Mpp3	A	G	11: 102,000,665	I549T	probably benign	Het
Nat1	T	C	8: 67,491,742	Y260H	probably benign	Het
Nipal2	T	A	15: 34,648,837	K69*	probably null	Het
Nlrx1	G	T	9: 44,256,941		probably benign	Het
Pde1b	C	A	15: 103,521,425	A115E	probably benign	Het
Pde4dip	A	G	3: 97,766,494	Y369H	probably damaging	Het
Pnpla7	A	G	2: 25,053,419	Y1286C	possibly damaging	Het
Pramel5	T	C	4: 144,272,959	E186G	possibly damaging	Het
Qdpr	C	T	5: 45,450,044	G20D	probably damaging	Het
Rmnd1	T	G	10: 4,407,918	I364L	probably benign	Het
Slc5a4a	A	T	10: 76,186,535	E568V	probably benign	Het
Slc6a18	T	A	13: 73,668,271	I330F	probably benign	Het
Spesp1	T	C	9: 62,273,270	T119A	possibly damaging	Het
Sypl	G	A	12: 32,975,663	S242N	probably benign	Het
Tbx18	G	A	9: 87,730,717	T43M	probably benign	Het
Tm7sf2	T	A	19: 6,063,926	D263V	probably damaging	Het
Trbv21	T	C	6: 41,202,990	I80T	probably damaging	Het
Ttc3	T	A	16: 94,427,808	L747Q	possibly damaging	Het
Ttll11	T	C	2: 35,817,801	D498G	possibly damaging	Het
Ttn	T	C	2: 76,753,370	Y22431C	probably null	Het
Ubtfl1	T	A	9: 18,410,341	S388R		Het
Vmn2r118	A	T	17: 55,610,835	L226I	possibly damaging	Het
Wdr46	A	G	17: 33,949,182	H576R	probably benign	Het
Zfp426	A	G	9: 20,475,000	F62L	probably damaging	Het

Other mutations in Iqsec3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01349:Iqsec3	APN	6	121473124	missense	possibly damaging	0.90
IGL01615:Iqsec3	APN	6	121410621	missense	probably damaging	1.00
IGL01728:Iqsec3	APN	6	121412664	utr 3 prime	probably benign
IGL01935:Iqsec3	APN	6	121383992	missense	probably damaging	1.00
IGL02146:Iqsec3	APN	6	121383957	missense	probably damaging	0.99
IGL02369:Iqsec3	APN	6	121412934	utr 3 prime	probably benign
IGL02684:Iqsec3	APN	6	121412941	nonsense	probably null
IGL03180:Iqsec3	APN	6	121413508	utr 3 prime	probably benign
R0032:Iqsec3	UTSW	6	121473130	missense	possibly damaging	0.71
R0088:Iqsec3	UTSW	6	121473289	missense	probably damaging	0.97
R0189:Iqsec3	UTSW	6	121413562	utr 3 prime	probably benign
R0193:Iqsec3	UTSW	6	121410724	missense	probably damaging	1.00
R0528:Iqsec3	UTSW	6	121412784	utr 3 prime	probably benign
R1885:Iqsec3	UTSW	6	121428367	intron	probably benign
R2698:Iqsec3	UTSW	6	121413471	utr 3 prime	probably benign
R3751:Iqsec3	UTSW	6	121376255	missense	probably benign	0.19
R3753:Iqsec3	UTSW	6	121376255	missense	probably benign	0.19
R3947:Iqsec3	UTSW	6	121387824	nonsense	probably null
R3948:Iqsec3	UTSW	6	121387824	nonsense	probably null
R3949:Iqsec3	UTSW	6	121387824	nonsense	probably null
R4006:Iqsec3	UTSW	6	121376228	missense	probably damaging	1.00
R4007:Iqsec3	UTSW	6	121376228	missense	probably damaging	1.00
R4210:Iqsec3	UTSW	6	121413040	utr 3 prime	probably benign
R4535:Iqsec3	UTSW	6	121380018	missense	possibly damaging	0.80
R4567:Iqsec3	UTSW	6	121387762	missense	probably damaging	1.00
R5096:Iqsec3	UTSW	6	121386698	missense	probably damaging	1.00
R5135:Iqsec3	UTSW	6	121383919	missense	probably damaging	1.00
R5289:Iqsec3	UTSW	6	121386700	critical splice acceptor site	probably null
R5537:Iqsec3	UTSW	6	121412644	utr 3 prime	probably benign
R6555:Iqsec3	UTSW	6	121384219	missense	probably damaging	1.00
R6942:Iqsec3	UTSW	6	121473103	missense	probably damaging	1.00
R7122:Iqsec3	UTSW	6	121473358	missense	unknown
R7372:Iqsec3	UTSW	6	121384032	nonsense	probably null
R7394:Iqsec3	UTSW	6	121386610	missense	possibly damaging	0.47
R7559:Iqsec3	UTSW	6	121387780	missense	probably damaging	1.00
R7729:Iqsec3	UTSW	6	121383981	missense	probably damaging	1.00
R7815:Iqsec3	UTSW	6	121473358	missense	probably benign	0.17
R8114:Iqsec3	UTSW	6	121413499	missense	unknown
R8115:Iqsec3	UTSW	6	121473030	missense	unknown
R8197:Iqsec3	UTSW	6	121413012	missense	unknown
R8353:Iqsec3	UTSW	6	121387820	missense	probably damaging	1.00
R8453:Iqsec3	UTSW	6	121387820	missense	probably damaging	1.00
R8467:Iqsec3	UTSW	6	121381717	missense	probably benign	0.28
R8500:Iqsec3	UTSW	6	121412854	utr 3 prime	probably benign
R8514:Iqsec3	UTSW	6	121413562	missense	unknown
R8890:Iqsec3	UTSW	6	121412556	missense	probably damaging	1.00
R8909:Iqsec3	UTSW	6	121413159	missense	unknown
R8970:Iqsec3	UTSW	6	121389569	missense	probably damaging	1.00
R9012:Iqsec3	UTSW	6	121413037	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CGGAAAGCCATCATGAGGGTAC -3'
(R):5'- AGAAGATCCGTAACTCGCTCC -3'

Sequencing Primer
(F):5'- TGTGACCCTGAGGCAGAC -3'
(R):5'- ATCCGTAACTCGCTCCTGGAG -3'

Posted On

2021-10-11