Incidental Mutation 'IGL01728:Iqsec3'
| ID |
105358 |
| 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 # |
IGL01728
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
121349892-121450637 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
T to A
at 121389623 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: E616V
|
| SMART Domains |
Protein: ENSMUSP00000038653
Gene: ENSMUSG00000040797
AA Change: E616V
| 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: E616V
|
| SMART Domains |
Protein: ENSMUSP00000145523
Gene: ENSMUSG00000040797
AA Change: E616V
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
A |
G |
1: 53,221,668 (GRCm39) |
S54P |
probably benign |
Het |
| Adamtsl1 |
T |
C |
4: 86,029,074 (GRCm39) |
I71T |
probably damaging |
Het |
| Agbl3 |
T |
C |
6: 34,759,092 (GRCm39) |
M1T |
probably null |
Het |
| Ankib1 |
A |
G |
5: 3,751,992 (GRCm39) |
|
probably benign |
Het |
| Brinp3 |
T |
G |
1: 146,707,289 (GRCm39) |
|
probably null |
Het |
| Chuk |
T |
C |
19: 44,087,085 (GRCm39) |
N138S |
possibly damaging |
Het |
| Dock7 |
G |
A |
4: 98,850,568 (GRCm39) |
T1588M |
probably damaging |
Het |
| Ehbp1 |
G |
A |
11: 22,051,115 (GRCm39) |
T479I |
probably damaging |
Het |
| Gpn2 |
T |
C |
4: 133,311,813 (GRCm39) |
I15T |
possibly damaging |
Het |
| H3c2 |
G |
A |
13: 23,936,712 (GRCm39) |
R117H |
probably benign |
Het |
| Haao |
A |
G |
17: 84,142,658 (GRCm39) |
F149S |
probably damaging |
Het |
| Lrrc39 |
G |
T |
3: 116,373,149 (GRCm39) |
|
probably benign |
Het |
| Ltbp2 |
C |
A |
12: 84,837,783 (GRCm39) |
S1199I |
probably damaging |
Het |
| Mageb3 |
G |
T |
2: 121,784,941 (GRCm39) |
P254T |
probably damaging |
Het |
| Mapkbp1 |
C |
T |
2: 119,854,302 (GRCm39) |
P1300S |
probably damaging |
Het |
| Mtfmt |
T |
A |
9: 65,343,100 (GRCm39) |
L2H |
probably damaging |
Het |
| Myo18a |
G |
T |
11: 77,668,682 (GRCm39) |
G181W |
probably damaging |
Het |
| Mzf1 |
T |
C |
7: 12,785,654 (GRCm39) |
|
probably benign |
Het |
| Nfatc2 |
A |
T |
2: 168,378,162 (GRCm39) |
L280Q |
probably damaging |
Het |
| Nudt15 |
A |
G |
14: 73,760,736 (GRCm39) |
|
probably null |
Het |
| Or51k2 |
T |
C |
7: 103,595,959 (GRCm39) |
F62S |
probably damaging |
Het |
| Or8b53 |
A |
G |
9: 38,667,391 (GRCm39) |
M136V |
possibly damaging |
Het |
| Parp14 |
A |
G |
16: 35,677,805 (GRCm39) |
V721A |
probably damaging |
Het |
| Pbp2 |
G |
T |
6: 135,287,073 (GRCm39) |
N91K |
probably damaging |
Het |
| Pde7b |
C |
A |
10: 20,310,210 (GRCm39) |
|
probably null |
Het |
| Pramel7 |
C |
A |
2: 87,321,674 (GRCm39) |
E120D |
possibly damaging |
Het |
| Rbbp5 |
C |
T |
1: 132,425,818 (GRCm39) |
T516M |
probably benign |
Het |
| Slc16a12 |
A |
G |
19: 34,668,071 (GRCm39) |
V28A |
possibly damaging |
Het |
| Slc6a9 |
T |
C |
4: 117,721,802 (GRCm39) |
F276S |
probably damaging |
Het |
| Spata9 |
A |
T |
13: 76,141,193 (GRCm39) |
I147L |
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,545,271 (GRCm39) |
Y2429F |
probably damaging |
Het |
| Tmtc1 |
A |
G |
6: 148,312,564 (GRCm39) |
S212P |
probably benign |
Het |
| Unc5cl |
A |
T |
17: 48,766,991 (GRCm39) |
I122F |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,131,943 (GRCm39) |
F2350I |
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 |
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation