Incidental Mutation 'R4645:Iqsec1'
| ID |
350162 |
| 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 |
041906-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R4645 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
90636578-90965766 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 90644995 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Threonine
at position 983
(K983T)
|
| 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: K879T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000098710
Gene: ENSMUSG00000034312
AA Change: K879T
| 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: K893T
PolyPhen 2
Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000098712
Gene: ENSMUSG00000034312
AA Change: K893T
| 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 benign
Transcript: ENSMUST00000189881
AA Change: K893T
PolyPhen 2
Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000140030
Gene: ENSMUSG00000034312
AA Change: K893T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
82 |
N/A |
INTRINSIC |
|
Blast:Sec7
|
83 |
383 |
5e-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 |
6.5e-98 |
SMART |
|
PH
|
751 |
862 |
1.1e-4 |
SMART |
|
low complexity region
|
915 |
928 |
N/A |
INTRINSIC |
|
low complexity region
|
977 |
990 |
N/A |
INTRINSIC |
|
low complexity region
|
992 |
1014 |
N/A |
INTRINSIC |
|
low complexity region
|
1028 |
1074 |
N/A |
INTRINSIC |
|
low complexity region
|
1076 |
1108 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212100
AA Change: K983T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.1504 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
98% (53/54) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
T |
C |
17: 46,635,700 (GRCm39) |
E101G |
probably damaging |
Het |
| Adgrf5 |
A |
G |
17: 43,748,416 (GRCm39) |
E29G |
probably damaging |
Het |
| Agfg2 |
T |
A |
5: 137,682,854 (GRCm39) |
|
probably benign |
Het |
| Ap4b1 |
A |
G |
3: 103,728,765 (GRCm39) |
S468G |
probably benign |
Het |
| AY702103 |
G |
T |
17: 50,546,941 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc14 |
T |
C |
16: 34,542,110 (GRCm39) |
L536S |
probably damaging |
Het |
| Ccr9 |
G |
T |
9: 123,608,658 (GRCm39) |
M101I |
probably benign |
Het |
| Celsr1 |
A |
T |
15: 85,800,957 (GRCm39) |
V2496E |
probably benign |
Het |
| Celsr2 |
C |
A |
3: 108,303,285 (GRCm39) |
G2486V |
probably damaging |
Het |
| Cntnap3 |
A |
G |
13: 64,926,602 (GRCm39) |
|
probably null |
Het |
| Erlin1 |
T |
C |
19: 44,057,759 (GRCm39) |
Y22C |
probably damaging |
Het |
| Fam135b |
T |
C |
15: 71,334,189 (GRCm39) |
T1002A |
probably benign |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Glud1 |
T |
C |
14: 34,033,063 (GRCm39) |
V70A |
probably damaging |
Het |
| Hdlbp |
A |
G |
1: 93,349,842 (GRCm39) |
|
probably benign |
Het |
| Immt |
T |
C |
6: 71,833,923 (GRCm39) |
L184P |
probably damaging |
Het |
| Klhl6 |
A |
T |
16: 19,765,897 (GRCm39) |
N568K |
probably damaging |
Het |
| Lbhd1 |
T |
G |
19: 8,861,452 (GRCm39) |
|
probably benign |
Het |
| Lrit2 |
C |
T |
14: 36,794,432 (GRCm39) |
R499C |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,461,213 (GRCm39) |
D748G |
probably damaging |
Het |
| Lrriq4 |
A |
G |
3: 30,704,892 (GRCm39) |
K292E |
probably benign |
Het |
| Ly96 |
G |
T |
1: 16,761,940 (GRCm39) |
E49* |
probably null |
Het |
| Lztr1 |
C |
T |
16: 17,341,955 (GRCm39) |
|
probably benign |
Het |
| Mmp12 |
A |
G |
9: 7,347,515 (GRCm39) |
M31V |
probably benign |
Het |
| Mok |
A |
T |
12: 110,774,873 (GRCm39) |
|
probably benign |
Het |
| Mpi |
T |
C |
9: 57,458,040 (GRCm39) |
H54R |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Or4c101 |
T |
C |
2: 88,390,722 (GRCm39) |
I292T |
probably damaging |
Het |
| Pomt1 |
G |
T |
2: 32,132,888 (GRCm39) |
|
probably benign |
Het |
| Ptpn20 |
G |
A |
14: 33,353,169 (GRCm39) |
V303I |
probably benign |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| Shank2 |
A |
G |
7: 143,964,159 (GRCm39) |
K799R |
possibly damaging |
Het |
| Sim1 |
A |
T |
10: 50,860,093 (GRCm39) |
T652S |
probably benign |
Het |
| Slc8a2 |
C |
T |
7: 15,868,164 (GRCm39) |
T132I |
probably damaging |
Het |
| Spaca6 |
A |
T |
17: 18,056,307 (GRCm39) |
|
probably benign |
Het |
| Sympk |
G |
T |
7: 18,777,385 (GRCm39) |
R545L |
possibly damaging |
Het |
| Tenm4 |
G |
T |
7: 96,544,949 (GRCm39) |
G2322W |
probably damaging |
Het |
| Thap1 |
A |
G |
8: 26,652,597 (GRCm39) |
T135A |
probably damaging |
Het |
| Traf3 |
T |
C |
12: 111,228,400 (GRCm39) |
V537A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,578,680 (GRCm39) |
D24071G |
probably damaging |
Het |
| Tysnd1 |
G |
T |
10: 61,531,962 (GRCm39) |
V205L |
probably benign |
Het |
| Unc79 |
T |
C |
12: 103,079,081 (GRCm39) |
S1749P |
probably benign |
Het |
| Vmn2r50 |
T |
A |
7: 9,771,162 (GRCm39) |
*846C |
probably null |
Het |
| Vmn2r74 |
C |
T |
7: 85,606,317 (GRCm39) |
S343N |
probably benign |
Het |
| Zfyve28 |
T |
G |
5: 34,379,787 (GRCm39) |
|
probably benign |
Het |
| Zmym2 |
T |
C |
14: 57,165,764 (GRCm39) |
S696P |
probably damaging |
Het |
| Zscan4e |
T |
C |
7: 11,041,002 (GRCm39) |
Y290C |
possibly damaging |
Het |
| Zswim2 |
G |
T |
2: 83,745,891 (GRCm39) |
H516N |
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 |
|
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'- CATTGTGTCTACTCCCGAGCAG -3'
(R):5'- CTGTCCAGAATGCCATCATGC -3'
Sequencing Primer
(F):5'- AGCACCATGACTGCCTGTTTG -3'
(R):5'- AGAATGCCATCATGCCCCGG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation