Incidental Mutation 'R7506:Iqsec1'
ID |
581787 |
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 |
045579-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.143)
|
Stock # |
R7506 (G1)
|
Quality Score |
121.008 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
90636578-90965766 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 90644891 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 914
(S914P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098710
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101151]
[ENSMUST00000101153]
[ENSMUST00000212100]
|
AlphaFold |
Q8R0S2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000101151
AA Change: S914P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098710 Gene: ENSMUSG00000034312 AA Change: S914P
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: S928P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000098712 Gene: ENSMUSG00000034312 AA Change: S928P
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 damaging
Transcript: ENSMUST00000212100
AA Change: S1018P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
98% (58/59) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406C07Rik |
C |
T |
9: 15,209,202 (GRCm39) |
V31I |
probably benign |
Het |
4933430I17Rik |
T |
C |
4: 62,450,498 (GRCm39) |
V24A |
possibly damaging |
Het |
Adamtsl3 |
A |
T |
7: 82,164,186 (GRCm39) |
R334W |
probably damaging |
Het |
Aox1 |
G |
A |
1: 58,088,562 (GRCm39) |
C116Y |
probably damaging |
Het |
B3gntl1 |
A |
T |
11: 121,561,740 (GRCm39) |
I74N |
probably damaging |
Het |
Bicra |
C |
T |
7: 15,722,138 (GRCm39) |
V460M |
possibly damaging |
Het |
Ccdc18 |
G |
A |
5: 108,311,605 (GRCm39) |
C437Y |
possibly damaging |
Het |
Cdh6 |
A |
G |
15: 13,034,396 (GRCm39) |
S755P |
probably damaging |
Het |
Crtc2 |
G |
T |
3: 90,166,519 (GRCm39) |
A165S |
probably damaging |
Het |
Cwf19l2 |
C |
T |
9: 3,456,775 (GRCm39) |
H703Y |
probably damaging |
Het |
Cyc1 |
C |
A |
15: 76,227,885 (GRCm39) |
T41K |
probably benign |
Het |
Defb28 |
A |
T |
2: 152,360,221 (GRCm39) |
H12L |
possibly damaging |
Het |
Dsg3 |
T |
A |
18: 20,666,521 (GRCm39) |
C577S |
probably benign |
Het |
Ggt6 |
G |
T |
11: 72,328,724 (GRCm39) |
C408F |
possibly damaging |
Het |
Gm3278 |
T |
A |
14: 16,080,479 (GRCm39) |
Y97N |
probably damaging |
Het |
Gpr155 |
A |
G |
2: 73,198,683 (GRCm39) |
L412P |
probably damaging |
Het |
Gucd1 |
T |
C |
10: 75,347,019 (GRCm39) |
H77R |
probably benign |
Het |
H2bc8 |
G |
A |
13: 23,755,658 (GRCm39) |
A18T |
unknown |
Het |
Hat1 |
T |
A |
2: 71,250,691 (GRCm39) |
I158N |
probably damaging |
Het |
Hhla1 |
C |
T |
15: 65,808,231 (GRCm39) |
W271* |
probably null |
Het |
Igsf10 |
T |
A |
3: 59,226,775 (GRCm39) |
L2299F |
probably damaging |
Het |
Irx2 |
G |
T |
13: 72,777,328 (GRCm39) |
G50C |
probably damaging |
Het |
Kif26b |
T |
C |
1: 178,357,064 (GRCm39) |
|
probably benign |
Het |
Lmo7 |
A |
G |
14: 102,157,045 (GRCm39) |
E1405G |
unknown |
Het |
Mdm2 |
T |
C |
10: 117,526,596 (GRCm39) |
D330G |
possibly damaging |
Het |
Mgat5 |
A |
C |
1: 127,294,192 (GRCm39) |
D178A |
probably benign |
Het |
Mier2 |
C |
A |
10: 79,386,176 (GRCm39) |
R25L |
probably benign |
Het |
Mlip |
T |
C |
9: 77,072,085 (GRCm39) |
K257E |
probably damaging |
Het |
Mtfr2 |
T |
C |
10: 20,229,131 (GRCm39) |
S80P |
probably benign |
Het |
Ndst2 |
A |
G |
14: 20,780,153 (GRCm39) |
V29A |
probably benign |
Het |
Negr1 |
T |
G |
3: 156,774,870 (GRCm39) |
Y195* |
probably null |
Het |
Nptn |
T |
C |
9: 58,526,156 (GRCm39) |
L101P |
probably damaging |
Het |
Nrip1 |
G |
A |
16: 76,091,347 (GRCm39) |
T70I |
probably damaging |
Het |
Nrtn |
C |
T |
17: 57,058,633 (GRCm39) |
V123M |
probably damaging |
Het |
Onecut1 |
T |
A |
9: 74,770,522 (GRCm39) |
F315Y |
possibly damaging |
Het |
Or1p1 |
A |
T |
11: 74,179,949 (GRCm39) |
H159L |
possibly damaging |
Het |
P4htm |
A |
G |
9: 108,460,878 (GRCm39) |
L198S |
probably damaging |
Het |
Pappa |
A |
C |
4: 65,149,419 (GRCm39) |
I920L |
probably benign |
Het |
Pcdhgb5 |
A |
C |
18: 37,865,525 (GRCm39) |
D440A |
probably damaging |
Het |
Ppard |
A |
T |
17: 28,517,735 (GRCm39) |
N268Y |
possibly damaging |
Het |
Rapgef6 |
T |
A |
11: 54,526,997 (GRCm39) |
S563T |
probably benign |
Het |
Rtn3 |
T |
A |
19: 7,407,118 (GRCm39) |
E949D |
probably benign |
Het |
Sf3a1 |
T |
C |
11: 4,127,561 (GRCm39) |
M629T |
probably benign |
Het |
Slc39a8 |
T |
C |
3: 135,590,067 (GRCm39) |
I319T |
probably benign |
Het |
Sorcs1 |
C |
T |
19: 50,171,112 (GRCm39) |
W925* |
probably null |
Het |
Spag9 |
G |
A |
11: 93,999,290 (GRCm39) |
D1069N |
probably damaging |
Het |
Taar7a |
A |
G |
10: 23,868,892 (GRCm39) |
V163A |
possibly damaging |
Het |
Tmem150a |
G |
A |
6: 72,333,753 (GRCm39) |
|
probably null |
Het |
Tnxb |
G |
A |
17: 34,934,665 (GRCm39) |
V2425I |
possibly damaging |
Het |
Tppp2 |
A |
G |
14: 52,158,058 (GRCm39) |
K168E |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,719,812 (GRCm39) |
D7099V |
unknown |
Het |
Vmn1r41 |
A |
T |
6: 89,724,159 (GRCm39) |
R50* |
probably null |
Het |
Vmn1r60 |
T |
C |
7: 5,547,861 (GRCm39) |
K80E |
|
Het |
Vmn2r18 |
A |
G |
5: 151,508,485 (GRCm39) |
F213S |
possibly damaging |
Het |
Vmn2r26 |
G |
A |
6: 124,016,700 (GRCm39) |
S388N |
probably benign |
Het |
Vmn2r63 |
A |
T |
7: 42,576,391 (GRCm39) |
F474Y |
probably damaging |
Het |
Zc3hav1 |
G |
A |
6: 38,309,875 (GRCm39) |
R316* |
probably null |
Het |
Zfp654 |
A |
T |
16: 64,612,211 (GRCm39) |
I225N |
probably damaging |
Het |
Zfp97 |
A |
G |
17: 17,365,542 (GRCm39) |
E347G |
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 |
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 |
90,639,788 (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'- CTTAGAGCAGTTGGTACAGGGG -3'
(R):5'- TCCCTCTTTCCAGGAGCTAG -3'
Sequencing Primer
(F):5'- TTGCACAGACTGTCCCGTG -3'
(R):5'- GCTAGGGCCCAGAACAGTG -3'
|
Posted On |
2019-10-17 |