Incidental Mutation 'PIT4260001:Iqsec1'
| ID |
554496 |
| Institutional Source |
Beutler Lab
|
| 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: 0.143)
|
| Stock # |
PIT4260001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
90636578-90965766 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 90667471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 218
(D218V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101151]
[ENSMUST00000101153]
[ENSMUST00000156834]
[ENSMUST00000212100]
|
| AlphaFold |
Q8R0S2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101151
AA Change: D218V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098710
Gene: ENSMUSG00000034312
AA Change: D218V
| 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: D232V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098712
Gene: ENSMUSG00000034312
AA Change: D232V
| 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 damaging
Transcript: ENSMUST00000212100
AA Change: D322V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 92.7%
- 3x: 90.5%
- 10x: 84.8%
- 20x: 72.5%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap3 |
A |
T |
18: 38,129,948 (GRCm39) |
L71Q |
probably benign |
Het |
| Atp10a |
A |
T |
7: 58,440,866 (GRCm39) |
K504* |
probably null |
Het |
| AW551984 |
T |
C |
9: 39,504,275 (GRCm39) |
T564A |
probably benign |
Het |
| Cep128 |
A |
G |
12: 91,265,808 (GRCm39) |
V268A |
probably benign |
Het |
| Clgn |
T |
C |
8: 84,149,753 (GRCm39) |
M418T |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,558,662 (GRCm39) |
|
probably null |
Het |
| Col4a3 |
A |
T |
1: 82,660,482 (GRCm39) |
E933D |
unknown |
Het |
| Csmd1 |
A |
T |
8: 16,120,327 (GRCm39) |
L1826Q |
probably damaging |
Het |
| Enpp2 |
C |
T |
15: 54,707,774 (GRCm39) |
|
probably null |
Het |
| Ep400 |
G |
A |
5: 110,841,037 (GRCm39) |
R1832* |
probably null |
Het |
| Exoc5 |
T |
C |
14: 49,286,222 (GRCm39) |
K135R |
probably benign |
Het |
| Fam83h |
A |
G |
15: 75,873,746 (GRCm39) |
F1197S |
probably damaging |
Het |
| Gabrg1 |
T |
C |
5: 70,939,623 (GRCm39) |
I170V |
probably benign |
Het |
| Gigyf2 |
C |
T |
1: 87,346,828 (GRCm39) |
R610C |
unknown |
Het |
| Gm16440 |
T |
C |
14: 17,575,339 (GRCm39) |
E119G |
probably benign |
Het |
| Gm17669 |
A |
G |
18: 67,695,508 (GRCm39) |
R18G |
probably damaging |
Het |
| Gxylt1 |
A |
G |
15: 93,159,708 (GRCm39) |
S100P |
probably damaging |
Het |
| H3c10 |
C |
A |
13: 21,902,089 (GRCm39) |
S87R |
possibly damaging |
Het |
| Hacd4 |
C |
G |
4: 88,316,342 (GRCm39) |
R259T |
unknown |
Het |
| Hacd4 |
T |
A |
4: 88,316,343 (GRCm39) |
R259* |
probably null |
Het |
| Hivep3 |
T |
C |
4: 119,956,379 (GRCm39) |
L1565P |
probably damaging |
Het |
| Matn2 |
C |
T |
15: 34,428,877 (GRCm39) |
T747I |
possibly damaging |
Het |
| Myl6b |
T |
A |
10: 128,332,175 (GRCm39) |
Q97L |
possibly damaging |
Het |
| Or5d18 |
A |
T |
2: 87,865,126 (GRCm39) |
M119K |
probably damaging |
Het |
| Pcdh1 |
A |
G |
18: 38,336,419 (GRCm39) |
V72A |
probably damaging |
Het |
| Pira2 |
T |
C |
7: 3,845,173 (GRCm39) |
T362A |
probably benign |
Het |
| Pira2 |
C |
T |
7: 3,845,169 (GRCm39) |
S363N |
probably benign |
Het |
| Pira2 |
G |
C |
7: 3,845,172 (GRCm39) |
T362S |
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,293,130 (GRCm39) |
V2830A |
possibly damaging |
Het |
| Plpp1 |
A |
G |
13: 112,993,419 (GRCm39) |
D118G |
probably damaging |
Het |
| Polr2a |
A |
G |
11: 69,626,793 (GRCm39) |
S1514P |
possibly damaging |
Het |
| Pou3f2 |
G |
T |
4: 22,487,291 (GRCm39) |
Q281K |
possibly damaging |
Het |
| Prl7a2 |
A |
T |
13: 27,843,259 (GRCm39) |
Y181* |
probably null |
Het |
| Prpf4b |
T |
A |
13: 35,068,274 (GRCm39) |
S368T |
probably benign |
Het |
| Prss45 |
A |
G |
9: 110,667,513 (GRCm39) |
D53G |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,609,641 (GRCm39) |
H4395L |
possibly damaging |
Het |
| Spp2 |
G |
T |
1: 88,338,927 (GRCm39) |
A97S |
probably benign |
Het |
| Strn4 |
T |
C |
7: 16,556,434 (GRCm39) |
F99S |
probably damaging |
Het |
| Tcaf2 |
T |
A |
6: 42,619,739 (GRCm39) |
H96L |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 36,054,557 (GRCm39) |
D601G |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,803,166 (GRCm39) |
M870L |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,773,569 (GRCm39) |
T2351A |
unknown |
Het |
| Xirp2 |
T |
A |
2: 67,341,941 (GRCm39) |
I1394K |
possibly damaging |
Het |
| Zfc3h1 |
G |
T |
10: 115,226,794 (GRCm39) |
D284Y |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGTCACATCACTATACGAGG -3'
(R):5'- TGCTGTCCAACATGAGGATGC -3'
Sequencing Primer
(F):5'- GGTCACATCACTATACGAGGCTGTC -3'
(R):5'- ACATGAGGATGCAGTTCTCC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation