Incidental Mutation 'R6007:Iqsec1'
| ID |
501988 |
| 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 |
044184-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R6007 (G1)
|
| Quality Score |
64.0073 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
90636578-90965766 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 90637969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 1050
(C1050*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148669
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101151]
[ENSMUST00000101153]
[ENSMUST00000212100]
|
| AlphaFold |
Q8R0S2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101151
|
| SMART Domains |
Protein: ENSMUSP00000098710
Gene: ENSMUSG00000034312
| 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 null
Transcript: ENSMUST00000101153
AA Change: C960*
|
| SMART Domains |
Protein: ENSMUSP00000098712
Gene: ENSMUSG00000034312
AA Change: C960*
| 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 |
noncoding transcript
Transcript: ENSMUST00000204983
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212100
AA Change: C1050*
|
| Meta Mutation Damage Score |
0.9201 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.6%
|
| Validation Efficiency |
100% (54/54) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
G |
T |
6: 83,137,900 (GRCm39) |
A9S |
possibly damaging |
Het |
| 4930407I10Rik |
C |
G |
15: 81,946,940 (GRCm39) |
T279S |
probably benign |
Het |
| A830018L16Rik |
A |
G |
1: 11,582,140 (GRCm39) |
|
probably null |
Het |
| Abcg5 |
T |
G |
17: 84,976,392 (GRCm39) |
I482L |
probably benign |
Het |
| Adgrf5 |
T |
A |
17: 43,748,462 (GRCm39) |
D44E |
probably damaging |
Het |
| Amh |
A |
G |
10: 80,641,305 (GRCm39) |
N75S |
probably benign |
Het |
| Arl8a |
T |
C |
1: 135,080,606 (GRCm39) |
|
probably null |
Het |
| Bpifb4 |
T |
C |
2: 153,784,480 (GRCm39) |
Y63H |
possibly damaging |
Het |
| Chd5 |
A |
T |
4: 152,463,878 (GRCm39) |
E1449V |
probably null |
Het |
| Chml |
A |
G |
1: 175,515,594 (GRCm39) |
V109A |
probably benign |
Het |
| Crybg3 |
G |
T |
16: 59,374,837 (GRCm39) |
S2139* |
probably null |
Het |
| Cyp2c68 |
T |
C |
19: 39,722,780 (GRCm39) |
D256G |
probably damaging |
Het |
| Dchs2 |
G |
T |
3: 83,253,534 (GRCm39) |
V2315L |
probably damaging |
Het |
| Ddx20 |
T |
C |
3: 105,590,736 (GRCm39) |
I227V |
possibly damaging |
Het |
| Drg2 |
T |
C |
11: 60,353,451 (GRCm39) |
V266A |
possibly damaging |
Het |
| Flcn |
C |
A |
11: 59,683,448 (GRCm39) |
E576D |
probably benign |
Het |
| Fstl5 |
T |
A |
3: 76,317,899 (GRCm39) |
D188E |
probably damaging |
Het |
| Gm14496 |
A |
G |
2: 181,639,323 (GRCm39) |
Q471R |
probably benign |
Het |
| Gm43772 |
T |
C |
5: 66,332,334 (GRCm39) |
|
probably benign |
Het |
| Gpc6 |
C |
T |
14: 118,188,673 (GRCm39) |
H436Y |
probably damaging |
Het |
| Gpr179 |
A |
T |
11: 97,226,628 (GRCm39) |
C1842* |
probably null |
Het |
| Ints8 |
G |
A |
4: 11,208,845 (GRCm39) |
T934I |
possibly damaging |
Het |
| Larp4b |
T |
C |
13: 9,218,793 (GRCm39) |
V510A |
probably benign |
Het |
| Map3k13 |
A |
T |
16: 21,723,933 (GRCm39) |
D305V |
possibly damaging |
Het |
| Mc5r |
A |
T |
18: 68,472,318 (GRCm39) |
I226F |
possibly damaging |
Het |
| Mme |
G |
A |
3: 63,250,929 (GRCm39) |
W323* |
probably null |
Het |
| Mrpl24 |
A |
G |
3: 87,829,705 (GRCm39) |
Y97C |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,965,749 (GRCm39) |
S541N |
probably benign |
Het |
| Npepl1 |
T |
C |
2: 173,962,850 (GRCm39) |
V412A |
probably benign |
Het |
| Nrg3 |
T |
A |
14: 39,194,409 (GRCm39) |
K117* |
probably null |
Het |
| Or11j4 |
G |
T |
14: 50,630,948 (GRCm39) |
C245F |
probably damaging |
Het |
| Or4f52 |
T |
C |
2: 111,061,275 (GRCm39) |
T288A |
probably benign |
Het |
| Orc2 |
A |
T |
1: 58,506,851 (GRCm39) |
M447K |
probably benign |
Het |
| Phf3 |
A |
T |
1: 30,843,426 (GRCm39) |
H1844Q |
probably damaging |
Het |
| Plxnc1 |
T |
C |
10: 94,629,152 (GRCm39) |
I1541V |
possibly damaging |
Het |
| Rapgef4 |
T |
C |
2: 72,010,293 (GRCm39) |
Y284H |
possibly damaging |
Het |
| Rnf180 |
C |
A |
13: 105,317,957 (GRCm39) |
|
probably null |
Het |
| Secisbp2 |
T |
C |
13: 51,819,395 (GRCm39) |
I325T |
probably damaging |
Het |
| Sertad2 |
G |
A |
11: 20,597,884 (GRCm39) |
G27S |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,099,216 (GRCm39) |
M625V |
probably benign |
Het |
| Synpo |
T |
A |
18: 60,736,687 (GRCm39) |
M420L |
probably benign |
Het |
| Tmem116 |
A |
C |
5: 121,655,955 (GRCm39) |
*147C |
probably null |
Het |
| Top2b |
G |
A |
14: 16,423,779 (GRCm38) |
|
probably null |
Het |
| Trp53bp2 |
T |
A |
1: 182,283,305 (GRCm39) |
C1014S |
probably damaging |
Het |
| Unc5b |
A |
G |
10: 60,601,139 (GRCm39) |
F896L |
probably damaging |
Het |
| Vil1 |
T |
C |
1: 74,459,026 (GRCm39) |
W177R |
probably damaging |
Het |
| Vmn2r107 |
A |
T |
17: 20,595,316 (GRCm39) |
Y623F |
probably benign |
Het |
| Vmn2r86 |
T |
C |
10: 130,289,535 (GRCm39) |
Y120C |
probably damaging |
Het |
| Wdr18 |
A |
G |
10: 79,801,177 (GRCm39) |
T197A |
possibly damaging |
Het |
| Ylpm1 |
A |
G |
12: 85,076,064 (GRCm39) |
M472V |
probably benign |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
| Zfp677 |
A |
G |
17: 21,617,918 (GRCm39) |
Y325C |
probably damaging |
Het |
| Zfyve1 |
A |
G |
12: 83,605,478 (GRCm39) |
F407S |
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 |
|
|
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'- AAAGTGCTCAGTTTGCAGATCTG -3'
(R):5'- TCTCATGGTCCAGTGAGCTG -3'
Sequencing Primer
(F):5'- CAGATCTGCTGGTACGTGAC -3'
(R):5'- AGCTGCCAGGCCTCACATG -3'
|
| Posted On |
2018-02-08 |
Incidental Mutation