Incidental Mutation 'R8238:Iqsec1'
| ID |
637460 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqsec1
|
| Ensembl Gene |
ENSMUSG00000034312 |
| Gene Name |
IQ motif and Sec7 domain 1 |
| Synonyms |
cI-43, BRAG2, D6Ertd349e |
| MMRRC Submission |
067670-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R8238 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
90636578-90965766 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 90666912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 404
(H404Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101151]
[ENSMUST00000101153]
[ENSMUST00000156834]
[ENSMUST00000212100]
|
| AlphaFold |
Q8R0S2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101151
AA Change: H404Q
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000098710
Gene: ENSMUSG00000034312
AA Change: H404Q
| 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: H418Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000098712
Gene: ENSMUSG00000034312
AA Change: H418Q
| 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 |
probably benign
Transcript: ENSMUST00000156834
|
| SMART Domains |
Protein: ENSMUSP00000118802
Gene: ENSMUSG00000034312
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
72 |
83 |
N/A |
INTRINSIC |
|
Blast:Sec7
|
84 |
208 |
5e-24 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212100
AA Change: H508Q
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
100% (34/34) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
A |
G |
8: 44,103,993 (GRCm39) |
Y551H |
probably damaging |
Het |
| Ak1 |
T |
A |
2: 32,523,681 (GRCm39) |
V198D |
probably damaging |
Het |
| Alx1 |
C |
T |
10: 102,858,076 (GRCm39) |
D208N |
possibly damaging |
Het |
| Aoc1l3 |
A |
G |
6: 48,966,975 (GRCm39) |
E641G |
probably damaging |
Het |
| Atp5f1b |
T |
A |
10: 127,921,019 (GRCm39) |
I182N |
possibly damaging |
Het |
| Cabp5 |
T |
A |
7: 13,139,377 (GRCm39) |
M134K |
probably damaging |
Het |
| Camsap2 |
A |
T |
1: 136,221,764 (GRCm39) |
I227N |
probably benign |
Het |
| Cfap44 |
G |
A |
16: 44,235,668 (GRCm39) |
|
probably null |
Het |
| Dpyd |
G |
A |
3: 118,988,842 (GRCm39) |
|
probably null |
Het |
| Etl4 |
C |
T |
2: 20,811,342 (GRCm39) |
R1510* |
probably null |
Het |
| Fgr |
C |
T |
4: 132,724,832 (GRCm39) |
A311V |
probably damaging |
Het |
| Glipr1 |
C |
T |
10: 111,829,345 (GRCm39) |
|
probably null |
Het |
| Gm10799 |
A |
G |
2: 103,898,496 (GRCm39) |
F70L |
probably benign |
Het |
| Gm14412 |
A |
T |
2: 177,007,111 (GRCm39) |
H261Q |
unknown |
Het |
| Hey2 |
T |
A |
10: 30,716,659 (GRCm39) |
M35L |
probably benign |
Het |
| Hspb7 |
A |
G |
4: 141,149,857 (GRCm39) |
Y81C |
probably damaging |
Het |
| Ipo5 |
A |
T |
14: 121,172,652 (GRCm39) |
K570M |
probably damaging |
Het |
| Kif5b |
T |
A |
18: 6,227,619 (GRCm39) |
Q86L |
probably damaging |
Het |
| Lrrtm4 |
T |
A |
6: 79,999,668 (GRCm39) |
I360N |
probably damaging |
Het |
| Mup6 |
T |
A |
4: 60,003,634 (GRCm39) |
V29E |
probably damaging |
Het |
| Ncstn |
G |
T |
1: 171,900,043 (GRCm39) |
A277E |
probably damaging |
Het |
| Nsun3 |
A |
G |
16: 62,591,076 (GRCm39) |
V189A |
probably damaging |
Het |
| Oaf |
C |
T |
9: 43,150,642 (GRCm39) |
D77N |
probably damaging |
Het |
| Or13a27 |
A |
C |
7: 139,925,803 (GRCm39) |
L33W |
probably damaging |
Het |
| Or55b10 |
T |
C |
7: 102,143,827 (GRCm39) |
T52A |
possibly damaging |
Het |
| Pard6a |
A |
G |
8: 106,429,366 (GRCm39) |
D138G |
probably damaging |
Het |
| Ppp4r4 |
A |
C |
12: 103,557,066 (GRCm39) |
H434P |
probably benign |
Het |
| Sec23b |
T |
C |
2: 144,406,568 (GRCm39) |
I121T |
probably benign |
Het |
| Slc36a3 |
C |
T |
11: 55,022,433 (GRCm39) |
V254I |
probably benign |
Het |
| Slc7a14 |
C |
A |
3: 31,281,300 (GRCm39) |
V337L |
probably benign |
Het |
| Tdh |
C |
T |
14: 63,733,173 (GRCm39) |
G206E |
probably damaging |
Het |
| Vmn1r231 |
T |
C |
17: 21,110,640 (GRCm39) |
T92A |
probably benign |
Het |
| Vmn2r36 |
T |
G |
7: 7,892,015 (GRCm39) |
H431P |
probably benign |
Het |
| Vmn2r92 |
G |
T |
17: 18,405,278 (GRCm39) |
M807I |
probably benign |
Het |
| Vps11 |
T |
C |
9: 44,264,057 (GRCm39) |
T759A |
probably benign |
Het |
| Xdh |
G |
T |
17: 74,193,412 (GRCm39) |
Q1295K |
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 |
|
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 |
|
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 |
|
R9536:Iqsec1
|
UTSW |
6 |
90,666,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9738:Iqsec1
|
UTSW |
6 |
90,671,672 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGAAAGCTGGAGAGTCC -3'
(R):5'- GAAGCACACCATCACTGGAG -3'
Sequencing Primer
(F):5'- AGGACTCAGAGCTGCAGTTTATG -3'
(R):5'- ACCATCACTGGAGCGGCC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation