Incidental Mutation 'IGL02211:Iqsec1'
| ID |
284708 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Iqsec1
|
| Ensembl Gene |
ENSMUSG00000034312 |
| Gene Name |
IQ motif and Sec7 domain 1 |
| Synonyms |
cI-43, BRAG2, D6Ertd349e |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
IGL02211
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
90636578-90965766 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90648591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 830
(L830P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148669
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101151]
[ENSMUST00000101153]
[ENSMUST00000212100]
|
| AlphaFold |
Q8R0S2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101151
AA Change: L726P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000098710
Gene: ENSMUSG00000034312
AA Change: L726P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
68 |
N/A |
INTRINSIC |
|
Blast:Sec7
|
69 |
369 |
6e-39 |
BLAST |
|
low complexity region
|
370 |
389 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
430 |
N/A |
INTRINSIC |
|
low complexity region
|
450 |
481 |
N/A |
INTRINSIC |
|
Sec7
|
505 |
696 |
1.31e-95 |
SMART |
|
PH
|
737 |
848 |
2.39e-2 |
SMART |
|
low complexity region
|
901 |
914 |
N/A |
INTRINSIC |
|
low complexity region
|
963 |
976 |
N/A |
INTRINSIC |
|
low complexity region
|
978 |
1000 |
N/A |
INTRINSIC |
|
low complexity region
|
1014 |
1060 |
N/A |
INTRINSIC |
|
low complexity region
|
1062 |
1094 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101153
AA Change: L740P
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000098712
Gene: ENSMUSG00000034312
AA Change: L740P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
82 |
N/A |
INTRINSIC |
|
Blast:Sec7
|
83 |
383 |
4e-39 |
BLAST |
|
low complexity region
|
384 |
403 |
N/A |
INTRINSIC |
|
low complexity region
|
410 |
444 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
495 |
N/A |
INTRINSIC |
|
Sec7
|
519 |
710 |
1.31e-95 |
SMART |
|
PH
|
751 |
862 |
2.39e-2 |
SMART |
|
low complexity region
|
915 |
928 |
N/A |
INTRINSIC |
|
low complexity region
|
948 |
957 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141434
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154198
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212100
AA Change: L830P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a conditional allele activated in neurons fail to exhibit mGluR- and NMDAR-mediated long term depression. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apoc3 |
C |
A |
9: 46,144,513 (GRCm39) |
|
probably benign |
Het |
| Atp8a2 |
C |
T |
14: 60,265,425 (GRCm39) |
G304R |
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cct4 |
A |
G |
11: 22,943,327 (GRCm39) |
|
probably benign |
Het |
| Cd28 |
T |
C |
1: 60,802,153 (GRCm39) |
V24A |
probably damaging |
Het |
| Cfap70 |
T |
C |
14: 20,445,040 (GRCm39) |
N1080S |
probably damaging |
Het |
| Cpa6 |
A |
T |
1: 10,665,861 (GRCm39) |
I59K |
possibly damaging |
Het |
| Cramp1 |
A |
G |
17: 25,196,610 (GRCm39) |
S835P |
possibly damaging |
Het |
| Crim1 |
T |
C |
17: 78,662,574 (GRCm39) |
L799S |
probably damaging |
Het |
| Cxcl16 |
T |
C |
11: 70,346,858 (GRCm39) |
H95R |
possibly damaging |
Het |
| Dip2c |
T |
A |
13: 9,660,883 (GRCm39) |
C915S |
probably damaging |
Het |
| Dytn |
T |
A |
1: 63,714,089 (GRCm39) |
N137Y |
possibly damaging |
Het |
| Exoc5 |
T |
A |
14: 49,251,667 (GRCm39) |
Q628L |
probably damaging |
Het |
| Flii |
A |
G |
11: 60,609,124 (GRCm39) |
|
probably benign |
Het |
| Hnrnph3 |
A |
T |
10: 62,853,121 (GRCm39) |
|
probably benign |
Het |
| Kank1 |
G |
T |
19: 25,407,702 (GRCm39) |
G1232V |
probably damaging |
Het |
| Kcnmb2 |
A |
G |
3: 32,252,483 (GRCm39) |
E228G |
probably damaging |
Het |
| Limk1 |
A |
T |
5: 134,686,491 (GRCm39) |
V538E |
probably damaging |
Het |
| Mmp20 |
T |
A |
9: 7,655,071 (GRCm39) |
I393K |
probably damaging |
Het |
| Mtmr1 |
A |
G |
X: 70,455,863 (GRCm39) |
D574G |
possibly damaging |
Het |
| Nr1h2 |
A |
C |
7: 44,199,884 (GRCm39) |
M345R |
probably damaging |
Het |
| Nyap1 |
T |
C |
5: 137,737,937 (GRCm39) |
H15R |
probably damaging |
Het |
| Or2ak4 |
G |
T |
11: 58,649,196 (GRCm39) |
S235I |
possibly damaging |
Het |
| Or52h7 |
A |
T |
7: 104,214,333 (GRCm39) |
K302* |
probably null |
Het |
| Pde4b |
T |
G |
4: 102,448,019 (GRCm39) |
|
probably benign |
Het |
| Pgrmc2 |
A |
G |
3: 41,037,068 (GRCm39) |
V121A |
probably damaging |
Het |
| Ptges3 |
T |
C |
10: 127,911,927 (GRCm39) |
|
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,314,064 (GRCm39) |
S1595P |
probably benign |
Het |
| Rhbdf2 |
A |
G |
11: 116,491,261 (GRCm39) |
F625L |
possibly damaging |
Het |
| Rhpn1 |
T |
C |
15: 75,582,905 (GRCm39) |
S281P |
possibly damaging |
Het |
| Samd3 |
G |
T |
10: 26,109,455 (GRCm39) |
G128W |
probably damaging |
Het |
| Septin5 |
T |
C |
16: 18,443,629 (GRCm39) |
K51E |
probably damaging |
Het |
| Serpina7 |
G |
A |
X: 137,982,062 (GRCm39) |
T185I |
probably damaging |
Het |
| Slc25a25 |
A |
G |
2: 32,307,452 (GRCm39) |
V303A |
probably damaging |
Het |
| Slc5a4b |
A |
T |
10: 75,896,297 (GRCm39) |
|
probably benign |
Het |
| Srpk3 |
A |
T |
X: 72,818,754 (GRCm39) |
H114L |
probably benign |
Het |
| Sybu |
T |
G |
15: 44,536,862 (GRCm39) |
Q360P |
probably damaging |
Het |
| Vmn1r179 |
A |
T |
7: 23,628,630 (GRCm39) |
I274F |
probably benign |
Het |
| Wdsub1 |
G |
T |
2: 59,689,080 (GRCm39) |
R381S |
probably damaging |
Het |
| Wscd1 |
G |
A |
11: 71,679,801 (GRCm39) |
R558H |
probably damaging |
Het |
|
| Other mutations in Iqsec1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01324:Iqsec1
|
APN |
6 |
90,666,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01749:Iqsec1
|
APN |
6 |
90,657,486 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01960:Iqsec1
|
APN |
6 |
90,653,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02007:Iqsec1
|
APN |
6 |
90,667,331 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL02045:Iqsec1
|
APN |
6 |
90,641,051 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02186:Iqsec1
|
APN |
6 |
90,653,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02503:Iqsec1
|
APN |
6 |
90,645,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02506:Iqsec1
|
APN |
6 |
90,649,057 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02554:Iqsec1
|
APN |
6 |
90,646,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4260001:Iqsec1
|
UTSW |
6 |
90,667,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4810001:Iqsec1
|
UTSW |
6 |
90,647,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0139:Iqsec1
|
UTSW |
6 |
90,786,740 (GRCm39) |
intron |
probably benign |
|
|
R0371:Iqsec1
|
UTSW |
6 |
90,647,385 (GRCm39) |
splice site |
probably benign |
|
|
R0617:Iqsec1
|
UTSW |
6 |
90,666,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0619:Iqsec1
|
UTSW |
6 |
90,647,388 (GRCm39) |
splice site |
probably null |
|
|
R1157:Iqsec1
|
UTSW |
6 |
90,646,366 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1168:Iqsec1
|
UTSW |
6 |
90,666,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1190:Iqsec1
|
UTSW |
6 |
90,666,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1192:Iqsec1
|
UTSW |
6 |
90,648,958 (GRCm39) |
splice site |
probably benign |
|
|
R1435:Iqsec1
|
UTSW |
6 |
90,649,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1449:Iqsec1
|
UTSW |
6 |
90,667,790 (GRCm39) |
nonsense |
probably null |
|
|
R1697:Iqsec1
|
UTSW |
6 |
90,786,752 (GRCm39) |
nonsense |
probably null |
|
|
R1921:Iqsec1
|
UTSW |
6 |
90,639,877 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1958:Iqsec1
|
UTSW |
6 |
90,647,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2017:Iqsec1
|
UTSW |
6 |
90,666,912 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2082:Iqsec1
|
UTSW |
6 |
90,671,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2372:Iqsec1
|
UTSW |
6 |
90,671,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2442:Iqsec1
|
UTSW |
6 |
90,666,865 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4120:Iqsec1
|
UTSW |
6 |
90,639,584 (GRCm39) |
nonsense |
probably null |
|
|
R4371:Iqsec1
|
UTSW |
6 |
90,671,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4645:Iqsec1
|
UTSW |
6 |
90,644,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4864:Iqsec1
|
UTSW |
6 |
90,641,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5436:Iqsec1
|
UTSW |
6 |
90,822,343 (GRCm39) |
intron |
probably benign |
|
|
R5790:Iqsec1
|
UTSW |
6 |
90,666,862 (GRCm39) |
nonsense |
probably null |
|
|
R6007:Iqsec1
|
UTSW |
6 |
90,637,969 (GRCm39) |
nonsense |
probably null |
|
|
R6143:Iqsec1
|
UTSW |
6 |
90,786,666 (GRCm39) |
splice site |
probably null |
|
|
R6218:Iqsec1
|
UTSW |
6 |
90,666,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6972:Iqsec1
|
UTSW |
6 |
90,653,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7506:Iqsec1
|
UTSW |
6 |
90,644,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7506:Iqsec1
|
UTSW |
6 |
90,639,788 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7539:Iqsec1
|
UTSW |
6 |
90,639,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7921:Iqsec1
|
UTSW |
6 |
90,644,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7946:Iqsec1
|
UTSW |
6 |
90,667,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8238:Iqsec1
|
UTSW |
6 |
90,666,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9536:Iqsec1
|
UTSW |
6 |
90,666,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9738:Iqsec1
|
UTSW |
6 |
90,671,672 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation