Incidental Mutation 'IGL01960:Iqsec1'
| ID |
182361 |
| 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 # |
IGL01960
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
90636578-90965766 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 90653762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 675
(M675R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098712
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101151]
[ENSMUST00000101153]
[ENSMUST00000212100]
|
| AlphaFold |
Q8R0S2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101151
AA Change: M661R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000098710
Gene: ENSMUSG00000034312
AA Change: M661R
| 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 damaging
Transcript: ENSMUST00000101153
AA Change: M675R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098712
Gene: ENSMUSG00000034312
AA Change: M675R
| 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: ENSMUST00000175311
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212100
AA Change: M765R
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
G |
A |
4: 129,906,177 (GRCm39) |
|
probably benign |
Het |
| Adh7 |
T |
C |
3: 137,932,043 (GRCm39) |
I219T |
probably damaging |
Het |
| Ankmy1 |
C |
A |
1: 92,799,385 (GRCm39) |
|
probably benign |
Het |
| Aoc1 |
A |
G |
6: 48,885,537 (GRCm39) |
I681V |
probably benign |
Het |
| Arfgap3 |
T |
C |
15: 83,197,758 (GRCm39) |
T333A |
probably benign |
Het |
| Cdc42ep4 |
A |
G |
11: 113,619,830 (GRCm39) |
V187A |
probably benign |
Het |
| Cyp4f40 |
G |
A |
17: 32,878,535 (GRCm39) |
G26R |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,163,497 (GRCm39) |
|
probably benign |
Het |
| Dnajb4 |
T |
C |
3: 151,892,176 (GRCm39) |
E219G |
probably damaging |
Het |
| Dnmt3b |
A |
G |
2: 153,518,631 (GRCm39) |
K578R |
possibly damaging |
Het |
| Dst |
A |
T |
1: 34,329,570 (GRCm39) |
D4649V |
probably damaging |
Het |
| Fam20c |
T |
C |
5: 138,792,075 (GRCm39) |
S391P |
probably damaging |
Het |
| Fbxw10 |
A |
T |
11: 62,767,582 (GRCm39) |
Y801F |
probably damaging |
Het |
| Frem2 |
T |
G |
3: 53,429,725 (GRCm39) |
E2775A |
probably benign |
Het |
| Frmd4b |
A |
T |
6: 97,272,741 (GRCm39) |
S830T |
possibly damaging |
Het |
| Gatad2a |
T |
G |
8: 70,362,598 (GRCm39) |
S581R |
possibly damaging |
Het |
| Gpcpd1 |
C |
T |
2: 132,381,818 (GRCm39) |
|
probably null |
Het |
| Igsf10 |
A |
G |
3: 59,226,158 (GRCm39) |
L2505P |
probably benign |
Het |
| Igsf9b |
A |
G |
9: 27,239,902 (GRCm39) |
D649G |
possibly damaging |
Het |
| Impact |
T |
C |
18: 13,107,815 (GRCm39) |
C28R |
probably benign |
Het |
| Ino80d |
G |
T |
1: 63,097,306 (GRCm39) |
Q863K |
probably damaging |
Het |
| Kcng3 |
C |
T |
17: 83,895,279 (GRCm39) |
V396I |
probably damaging |
Het |
| Klhl18 |
A |
T |
9: 110,279,814 (GRCm39) |
D60E |
probably benign |
Het |
| Krtap7-1 |
C |
T |
16: 89,305,156 (GRCm39) |
|
probably benign |
Het |
| Mal2 |
T |
A |
15: 54,461,941 (GRCm39) |
Y145* |
probably null |
Het |
| Mcpt8 |
A |
T |
14: 56,319,864 (GRCm39) |
|
probably null |
Het |
| Mdn1 |
A |
G |
4: 32,758,393 (GRCm39) |
D4810G |
probably benign |
Het |
| Med24 |
T |
C |
11: 98,598,368 (GRCm39) |
I766V |
probably benign |
Het |
| Mga |
G |
A |
2: 119,769,138 (GRCm39) |
V1477M |
probably damaging |
Het |
| Mybph |
T |
A |
1: 134,121,663 (GRCm39) |
V112E |
probably benign |
Het |
| Nmur2 |
A |
T |
11: 55,931,337 (GRCm39) |
S125T |
probably damaging |
Het |
| Or2w3 |
T |
C |
11: 58,556,691 (GRCm39) |
V102A |
probably benign |
Het |
| Or6c212 |
A |
G |
10: 129,558,756 (GRCm39) |
I219T |
probably damaging |
Het |
| Or8b44 |
A |
T |
9: 38,410,003 (GRCm39) |
I13F |
probably damaging |
Het |
| Otop3 |
A |
G |
11: 115,231,795 (GRCm39) |
N220S |
probably damaging |
Het |
| Pacsin1 |
T |
G |
17: 27,923,809 (GRCm39) |
|
probably null |
Het |
| Pcsk1 |
A |
G |
13: 75,241,286 (GRCm39) |
R89G |
possibly damaging |
Het |
| Pde2a |
A |
T |
7: 101,153,947 (GRCm39) |
E509V |
probably benign |
Het |
| Pex1 |
T |
C |
5: 3,677,588 (GRCm39) |
|
probably benign |
Het |
| Ppp4r4 |
T |
G |
12: 103,547,753 (GRCm39) |
|
probably benign |
Het |
| Pygb |
T |
A |
2: 150,655,403 (GRCm39) |
N251K |
probably benign |
Het |
| Rsf1 |
C |
T |
7: 97,310,782 (GRCm39) |
T504I |
probably benign |
Het |
| Slc5a11 |
A |
T |
7: 122,869,163 (GRCm39) |
T584S |
probably benign |
Het |
| Smad2 |
G |
A |
18: 76,395,555 (GRCm39) |
|
probably benign |
Het |
| Srsf6 |
G |
A |
2: 162,775,674 (GRCm39) |
R161H |
probably damaging |
Het |
| Tbx3 |
T |
A |
5: 119,820,708 (GRCm39) |
S573T |
probably benign |
Het |
| Tecpr1 |
C |
T |
5: 144,153,737 (GRCm39) |
R172Q |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,619,244 (GRCm39) |
|
probably null |
Het |
| Ubr2 |
T |
C |
17: 47,284,893 (GRCm39) |
M542V |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,647,659 (GRCm39) |
|
probably benign |
Het |
| Vmn1r222 |
T |
A |
13: 23,416,315 (GRCm39) |
K299N |
probably benign |
Het |
| Wwp1 |
A |
T |
4: 19,662,115 (GRCm39) |
|
probably benign |
Het |
| Zbtb46 |
T |
A |
2: 181,065,928 (GRCm39) |
H74L |
possibly damaging |
Het |
| Zfp106 |
A |
T |
2: 120,354,524 (GRCm39) |
L1416I |
probably damaging |
Het |
| Zfp106 |
A |
G |
2: 120,369,803 (GRCm39) |
L73S |
probably benign |
Het |
| Zfp667 |
G |
A |
7: 6,308,336 (GRCm39) |
G335R |
probably benign |
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 |
|
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 |
|
IGL02211:Iqsec1
|
APN |
6 |
90,648,591 (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 |
2014-05-07 |
Incidental Mutation