Mutagenetix > Incidental Mutation

Incidental Mutation 'R7729:Iqsec3'

595702

Institutional Source

Beutler Lab

Gene Symbol

Iqsec3

Ensembl Gene

ENSMUSG00000040797

Gene Name

IQ motif and Sec7 domain 3

Synonyms

BRAG3, synarfGEF

MMRRC Submission

045785-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7729 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121349892-121450637 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121360940 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 973 (K973E)

Ref Sequence

ENSEMBL: ENSMUSP00000038653 (fasta)

Gene Model

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

AlphaFold

Q3TES0

Predicted Effect

probably damaging
Transcript: ENSMUST00000046373
AA Change: K973E

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

SMART Domains

Protein: ENSMUSP00000038653
Gene: ENSMUSG00000040797
AA Change: K973E

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

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: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810024B03Rik	T	G	2: 127,028,710 (GRCm39)	D163A	possibly damaging	Het
Abce1	A	T	8: 80,414,537 (GRCm39)	I454N	probably damaging	Het
Acaca	A	G	11: 84,262,339 (GRCm39)	I1980M	probably damaging	Het
Adgrb2	C	T	4: 129,885,917 (GRCm39)	T19M	probably benign	Het
Agmo	T	A	12: 37,464,974 (GRCm39)	S417T	probably benign	Het
Akap8l	T	C	17: 32,552,068 (GRCm39)	E403G	probably damaging	Het
Art5	C	T	7: 101,747,711 (GRCm39)	A23T	possibly damaging	Het
Atg9a	T	C	1: 75,161,204 (GRCm39)	T681A	probably benign	Het
Atp11b	A	G	3: 35,832,256 (GRCm39)	Q37R	probably damaging	Het
Atp2a2	T	C	5: 122,629,829 (GRCm39)	E80G	probably benign	Het
AW551984	G	A	9: 39,511,071 (GRCm39)	P172L	possibly damaging	Het
Bace1	C	T	9: 45,769,743 (GRCm39)	R296C	probably damaging	Het
Ccser1	T	A	6: 61,288,840 (GRCm39)	H334Q	probably benign	Het
Chtf18	C	T	17: 25,942,491 (GRCm39)	R449H	probably damaging	Het
Cit	A	G	5: 116,122,881 (GRCm39)	H1384R	possibly damaging	Het
Cltc	A	G	11: 86,612,474 (GRCm39)	I524T	probably benign	Het
Dctn1	T	A	6: 83,160,042 (GRCm39)	I94N	probably damaging	Het
Dnhd1	A	T	7: 105,354,472 (GRCm39)	D3078V	probably damaging	Het
Dock7	G	A	4: 98,943,683 (GRCm39)	P520S		Het
Epb41l4a	C	A	18: 33,987,326 (GRCm39)	K350N	probably damaging	Het
Eprs1	T	A	1: 185,145,366 (GRCm39)	Y1130N	probably damaging	Het
Fcgrt	T	C	7: 44,744,797 (GRCm39)	T224A	probably damaging	Het
Flt1	T	A	5: 147,637,177 (GRCm39)	T39S	probably benign	Het
Fxyd1	T	C	7: 30,752,896 (GRCm39)	Y33C	probably damaging	Het
Gab2	T	A	7: 96,950,633 (GRCm39)	V442E	probably damaging	Het
Ganab	A	G	19: 8,892,076 (GRCm39)	D800G	probably benign	Het
Gata4	C	A	14: 63,478,186 (GRCm39)	A138S	probably benign	Het
Golga4	A	G	9: 118,385,131 (GRCm39)	H751R	possibly damaging	Het
H1f6	A	G	13: 23,880,455 (GRCm39)	R203G	possibly damaging	Het
Htra4	A	G	8: 25,527,093 (GRCm39)	V234A	possibly damaging	Het
Igkv4-74	A	T	6: 69,161,954 (GRCm39)	Y72N	probably damaging	Het
Khdc1b	C	A	1: 21,455,065 (GRCm39)	T108K	probably benign	Het
Krtap5-1	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	7: 141,850,333 (GRCm39)		probably benign	Het
Kyat3	A	G	3: 142,432,066 (GRCm39)		probably null	Het
Lrba	T	A	3: 86,225,474 (GRCm39)	V666E	probably damaging	Het
Mettl25	T	A	10: 105,601,871 (GRCm39)	Y528F	probably benign	Het
Mms19	A	T	19: 41,940,904 (GRCm39)	Y619*	probably null	Het
Nlrp12	A	C	7: 3,277,020 (GRCm39)		probably null	Het
Nol10	C	T	12: 17,474,676 (GRCm39)	L623F	possibly damaging	Het
Oas1g	A	G	5: 121,024,063 (GRCm39)	F82S	probably damaging	Het
Or1j8	T	G	2: 36,191,772 (GRCm39)	S74A	probably benign	Het
Or5k3	C	T	16: 58,969,570 (GRCm39)	A119V	probably damaging	Het
Or8g18	G	A	9: 39,149,546 (GRCm39)	P58L	probably benign	Het
Oxr1	G	A	15: 41,686,863 (GRCm39)	E582K	probably damaging	Het
Pdia3	A	G	2: 121,262,838 (GRCm39)	D268G	possibly damaging	Het
Pramel13	T	C	4: 144,119,434 (GRCm39)	S378G	probably damaging	Het
Rcor3	A	G	1: 191,786,078 (GRCm39)	Y387H	probably damaging	Het
Rigi	T	A	4: 40,206,034 (GRCm39)	I853F	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Rsl1	T	C	13: 67,330,284 (GRCm39)	L244P	possibly damaging	Het
Scn5a	G	T	9: 119,324,606 (GRCm39)	N1407K	probably damaging	Het
Sdcbp	C	T	4: 6,378,985 (GRCm39)	A24V	probably benign	Het
Slc22a8	A	G	19: 8,571,323 (GRCm39)	Y18C	possibly damaging	Het
Slc35d1	C	T	4: 103,072,044 (GRCm39)	R7H	probably damaging	Het
Slco6d1	A	T	1: 98,425,248 (GRCm39)	T599S	probably damaging	Het
Spata31d1e	C	T	13: 59,889,437 (GRCm39)	M794I	not run	Het
St18	T	A	1: 6,872,761 (GRCm39)	H165Q	probably benign	Het
Sub1	C	T	15: 11,986,589 (GRCm39)	R86K	probably damaging	Het
Tectb	G	A	19: 55,181,104 (GRCm39)	V148M		Het
Tgfb2	C	A	1: 186,362,954 (GRCm39)	G290V	possibly damaging	Het
Tgm7	T	C	2: 120,924,191 (GRCm39)	H577R	probably benign	Het
Tle2	T	C	10: 81,422,981 (GRCm39)	S460P	probably damaging	Het
Tmem221	C	A	8: 72,011,446 (GRCm39)	R3L	possibly damaging	Het
Tnfrsf19	C	A	14: 61,212,183 (GRCm39)	V156L	possibly damaging	Het
Trav6-5	A	G	14: 53,728,964 (GRCm39)	K75E	probably benign	Het
Trip10	G	A	17: 57,569,442 (GRCm39)	G488S	probably damaging	Het
Usp34	A	C	11: 23,399,268 (GRCm39)	K2419T		Het
Vps13d	T	C	4: 144,801,622 (GRCm39)	Q3532R		Het
Vps4a	A	T	8: 107,767,529 (GRCm39)	I163L	probably damaging	Het
Wrn	T	C	8: 33,814,454 (GRCm39)	H330R	probably benign	Het
Xpr1	T	C	1: 155,188,618 (GRCm39)	I341V	probably benign	Het
Zfyve9	T	C	4: 108,548,973 (GRCm39)	E105G	probably benign	Het

Other mutations in Iqsec3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01349:Iqsec3	APN	6	121,450,083 (GRCm39)	missense	possibly damaging	0.90
IGL01615:Iqsec3	APN	6	121,387,580 (GRCm39)	missense	probably damaging	1.00
IGL01728:Iqsec3	APN	6	121,389,623 (GRCm39)	utr 3 prime	probably benign
IGL01935:Iqsec3	APN	6	121,360,951 (GRCm39)	missense	probably damaging	1.00
IGL02146:Iqsec3	APN	6	121,360,916 (GRCm39)	missense	probably damaging	0.99
IGL02369:Iqsec3	APN	6	121,389,893 (GRCm39)	utr 3 prime	probably benign
IGL02684:Iqsec3	APN	6	121,389,900 (GRCm39)	nonsense	probably null
IGL03180:Iqsec3	APN	6	121,390,467 (GRCm39)	utr 3 prime	probably benign
R0032:Iqsec3	UTSW	6	121,450,089 (GRCm39)	missense	possibly damaging	0.71
R0088:Iqsec3	UTSW	6	121,450,248 (GRCm39)	missense	probably damaging	0.97
R0189:Iqsec3	UTSW	6	121,390,521 (GRCm39)	utr 3 prime	probably benign
R0193:Iqsec3	UTSW	6	121,387,683 (GRCm39)	missense	probably damaging	1.00
R0528:Iqsec3	UTSW	6	121,389,743 (GRCm39)	utr 3 prime	probably benign
R1885:Iqsec3	UTSW	6	121,405,326 (GRCm39)	intron	probably benign
R2698:Iqsec3	UTSW	6	121,390,430 (GRCm39)	utr 3 prime	probably benign
R3751:Iqsec3	UTSW	6	121,353,214 (GRCm39)	missense	probably benign	0.19
R3753:Iqsec3	UTSW	6	121,353,214 (GRCm39)	missense	probably benign	0.19
R3947:Iqsec3	UTSW	6	121,364,783 (GRCm39)	nonsense	probably null
R3948:Iqsec3	UTSW	6	121,364,783 (GRCm39)	nonsense	probably null
R3949:Iqsec3	UTSW	6	121,364,783 (GRCm39)	nonsense	probably null
R4006:Iqsec3	UTSW	6	121,353,187 (GRCm39)	missense	probably damaging	1.00
R4007:Iqsec3	UTSW	6	121,353,187 (GRCm39)	missense	probably damaging	1.00
R4210:Iqsec3	UTSW	6	121,389,999 (GRCm39)	utr 3 prime	probably benign
R4535:Iqsec3	UTSW	6	121,356,977 (GRCm39)	missense	possibly damaging	0.80
R4567:Iqsec3	UTSW	6	121,364,721 (GRCm39)	missense	probably damaging	1.00
R5096:Iqsec3	UTSW	6	121,363,657 (GRCm39)	missense	probably damaging	1.00
R5135:Iqsec3	UTSW	6	121,360,878 (GRCm39)	missense	probably damaging	1.00
R5289:Iqsec3	UTSW	6	121,363,659 (GRCm39)	critical splice acceptor site	probably null
R5537:Iqsec3	UTSW	6	121,389,603 (GRCm39)	utr 3 prime	probably benign
R6555:Iqsec3	UTSW	6	121,361,178 (GRCm39)	missense	probably damaging	1.00
R6942:Iqsec3	UTSW	6	121,450,062 (GRCm39)	missense	probably damaging	1.00
R7122:Iqsec3	UTSW	6	121,450,317 (GRCm39)	missense	unknown
R7372:Iqsec3	UTSW	6	121,360,991 (GRCm39)	nonsense	probably null
R7394:Iqsec3	UTSW	6	121,363,569 (GRCm39)	missense	possibly damaging	0.47
R7559:Iqsec3	UTSW	6	121,364,739 (GRCm39)	missense	probably damaging	1.00
R7815:Iqsec3	UTSW	6	121,450,317 (GRCm39)	missense	probably benign	0.17
R8114:Iqsec3	UTSW	6	121,390,458 (GRCm39)	missense	unknown
R8115:Iqsec3	UTSW	6	121,449,989 (GRCm39)	missense	unknown
R8197:Iqsec3	UTSW	6	121,389,971 (GRCm39)	missense	unknown
R8353:Iqsec3	UTSW	6	121,364,779 (GRCm39)	missense	probably damaging	1.00
R8453:Iqsec3	UTSW	6	121,364,779 (GRCm39)	missense	probably damaging	1.00
R8467:Iqsec3	UTSW	6	121,358,676 (GRCm39)	missense	probably benign	0.28
R8500:Iqsec3	UTSW	6	121,389,813 (GRCm39)	utr 3 prime	probably benign
R8514:Iqsec3	UTSW	6	121,390,521 (GRCm39)	missense	unknown
R8890:Iqsec3	UTSW	6	121,389,515 (GRCm39)	missense	probably damaging	1.00
R8909:Iqsec3	UTSW	6	121,390,118 (GRCm39)	missense	unknown
R8970:Iqsec3	UTSW	6	121,366,528 (GRCm39)	missense	probably damaging	1.00
R8993:Iqsec3	UTSW	6	121,390,272 (GRCm39)	missense	unknown
R9012:Iqsec3	UTSW	6	121,389,996 (GRCm39)	missense	unknown
R9534:Iqsec3	UTSW	6	121,367,077 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- AGGTCACATCAATTGGGGCAG -3'
(R):5'- GCTTTCACCTCTTCGAGAACG -3'

Sequencing Primer
(F):5'- TCACATCAATTGGGGCAGAGGAG -3'
(R):5'- TCGAGAACGAGTGTGAGTCCC -3'

Posted On

2019-11-12