Incidental Mutation 'IGL02369:Iqsec3'
| ID |
290850 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Iqsec3
|
| Ensembl Gene |
ENSMUSG00000040797 |
| Gene Name |
IQ motif and Sec7 domain 3 |
| Synonyms |
BRAG3, synarfGEF |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02369
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
121349892-121450637 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
T to C
at 121389893 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116317
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046373]
[ENSMUST00000129815]
[ENSMUST00000151397]
[ENSMUST00000152103]
|
| AlphaFold |
Q3TES0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000046373
AA Change: D526G
|
| SMART Domains |
Protein: ENSMUSP00000038653
Gene: ENSMUSG00000040797
AA Change: D526G
| 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: D526G
|
| SMART Domains |
Protein: ENSMUSP00000145523
Gene: ENSMUSG00000040797
AA Change: D526G
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck2 |
G |
T |
6: 39,551,678 (GRCm39) |
L148F |
probably damaging |
Het |
| Arhgef10 |
G |
A |
8: 15,047,551 (GRCm39) |
R1138H |
probably damaging |
Het |
| Arpp21 |
T |
C |
9: 111,948,266 (GRCm39) |
T668A |
probably benign |
Het |
| Atp6v0b |
T |
A |
4: 117,742,850 (GRCm39) |
I79F |
possibly damaging |
Het |
| Atp8b5 |
A |
T |
4: 43,334,205 (GRCm39) |
N324Y |
probably benign |
Het |
| Bach2 |
A |
G |
4: 32,579,975 (GRCm39) |
I610M |
possibly damaging |
Het |
| Casr |
G |
T |
16: 36,315,051 (GRCm39) |
D929E |
probably benign |
Het |
| Cbln2 |
T |
C |
18: 86,731,479 (GRCm39) |
S96P |
probably damaging |
Het |
| Cpxm1 |
T |
C |
2: 130,238,344 (GRCm39) |
K73E |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,814,645 (GRCm39) |
Y457C |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,535,000 (GRCm39) |
Y152H |
probably damaging |
Het |
| Fbh1 |
A |
T |
2: 11,751,969 (GRCm39) |
S910T |
possibly damaging |
Het |
| Gm10142 |
T |
C |
10: 77,551,947 (GRCm39) |
S103P |
probably benign |
Het |
| Gm12886 |
A |
G |
4: 121,280,229 (GRCm39) |
S16P |
unknown |
Het |
| Gpr146 |
T |
C |
5: 139,378,443 (GRCm39) |
Y82H |
probably benign |
Het |
| Herc1 |
C |
T |
9: 66,399,293 (GRCm39) |
Q4282* |
probably null |
Het |
| Htr2a |
A |
T |
14: 74,943,722 (GRCm39) |
E434V |
probably benign |
Het |
| Islr |
A |
C |
9: 58,064,907 (GRCm39) |
V200G |
probably damaging |
Het |
| Katnal1 |
T |
C |
5: 148,815,737 (GRCm39) |
D400G |
probably benign |
Het |
| Lonrf2 |
A |
G |
1: 38,850,913 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,294,980 (GRCm39) |
L3446Q |
probably damaging |
Het |
| Med12l |
G |
A |
3: 59,164,794 (GRCm39) |
V1425I |
probably benign |
Het |
| Myh13 |
T |
C |
11: 67,251,100 (GRCm39) |
|
probably benign |
Het |
| Nutm2 |
T |
G |
13: 50,623,944 (GRCm39) |
S214A |
probably benign |
Het |
| Or10aa1 |
T |
A |
1: 173,869,539 (GRCm39) |
W8R |
possibly damaging |
Het |
| Or2h1b |
A |
G |
17: 37,462,665 (GRCm39) |
F66S |
probably damaging |
Het |
| Or5b99 |
T |
C |
19: 12,977,072 (GRCm39) |
S241P |
probably damaging |
Het |
| Or6c33 |
C |
A |
10: 129,853,425 (GRCm39) |
A65E |
possibly damaging |
Het |
| Pax5 |
A |
T |
4: 44,691,919 (GRCm39) |
M109K |
probably damaging |
Het |
| Pfkfb2 |
G |
A |
1: 130,628,572 (GRCm39) |
R345W |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,342,977 (GRCm39) |
D105G |
unknown |
Het |
| Prdm11 |
A |
G |
2: 92,805,864 (GRCm39) |
V362A |
probably benign |
Het |
| Prex2 |
T |
C |
1: 11,171,393 (GRCm39) |
|
probably null |
Het |
| Prl8a1 |
T |
C |
13: 27,760,924 (GRCm39) |
T103A |
possibly damaging |
Het |
| Rgl1 |
T |
C |
1: 152,409,357 (GRCm39) |
I493V |
probably damaging |
Het |
| Rimkla |
A |
G |
4: 119,335,146 (GRCm39) |
V79A |
possibly damaging |
Het |
| Ryr2 |
A |
T |
13: 11,634,382 (GRCm39) |
S3791R |
possibly damaging |
Het |
| Sh3rf2 |
C |
A |
18: 42,289,222 (GRCm39) |
S681* |
probably null |
Het |
| Stmnd1 |
T |
A |
13: 46,439,029 (GRCm39) |
I87K |
probably benign |
Het |
| Tspan8 |
C |
A |
10: 115,675,782 (GRCm39) |
F149L |
probably benign |
Het |
| Tspan8 |
A |
C |
10: 115,675,783 (GRCm39) |
K150Q |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,772,720 (GRCm39) |
E2425G |
probably damaging |
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 |
|
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 |
|
R7729:Iqsec3
|
UTSW |
6 |
121,360,940 (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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation