Incidental Mutation 'R6477:Iqub'
ID |
516835 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Iqub
|
Ensembl Gene |
ENSMUSG00000046192 |
Gene Name |
IQ motif and ubiquitin domain containing |
Synonyms |
4932408B21Rik, Trs4 |
MMRRC Submission |
044609-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6477 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
24444864-24515066 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 24449744 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 707
(N707I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051177
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052277]
|
AlphaFold |
Q8CDK3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000052277
AA Change: N707I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000051177 Gene: ENSMUSG00000046192 AA Change: N707I
Domain | Start | End | E-Value | Type |
PDB:2DAF|A
|
119 |
216 |
1e-38 |
PDB |
Blast:UBQ
|
129 |
199 |
3e-26 |
BLAST |
low complexity region
|
218 |
229 |
N/A |
INTRINSIC |
low complexity region
|
289 |
306 |
N/A |
INTRINSIC |
IQ
|
333 |
355 |
1.74e-1 |
SMART |
low complexity region
|
357 |
383 |
N/A |
INTRINSIC |
low complexity region
|
735 |
742 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.8566 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.1%
|
Validation Efficiency |
97% (60/62) |
Allele List at MGI |
All alleles(2) : Targeted, knock-out(2) |
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
T |
C |
11: 119,909,696 (GRCm39) |
D23G |
probably benign |
Het |
Abca14 |
T |
C |
7: 119,924,325 (GRCm39) |
I1659T |
probably benign |
Het |
Ankdd1a |
C |
T |
9: 65,409,494 (GRCm39) |
V481M |
probably benign |
Het |
Ankfy1 |
G |
A |
11: 72,621,308 (GRCm39) |
R198Q |
possibly damaging |
Het |
Cfap161 |
T |
A |
7: 83,443,230 (GRCm39) |
R20* |
probably null |
Het |
Cops7a |
A |
T |
6: 124,937,139 (GRCm39) |
V184E |
probably damaging |
Het |
Cpa3 |
T |
C |
3: 20,293,739 (GRCm39) |
E83G |
possibly damaging |
Het |
Crls1 |
C |
T |
2: 132,703,153 (GRCm39) |
S201L |
probably benign |
Het |
Cyp4f39 |
C |
A |
17: 32,700,791 (GRCm39) |
S153R |
probably damaging |
Het |
Ddx54 |
T |
A |
5: 120,759,843 (GRCm39) |
I410N |
probably damaging |
Het |
Dido1 |
T |
A |
2: 180,302,274 (GRCm39) |
T1877S |
probably benign |
Het |
Dip2c |
A |
G |
13: 9,673,796 (GRCm39) |
S1079G |
probably damaging |
Het |
Dnhd1 |
G |
A |
7: 105,327,093 (GRCm39) |
V681I |
probably benign |
Het |
Dst |
A |
G |
1: 34,247,809 (GRCm39) |
|
probably null |
Het |
Eya2 |
A |
G |
2: 165,605,681 (GRCm39) |
T362A |
probably benign |
Het |
Garre1 |
A |
G |
7: 33,957,055 (GRCm39) |
|
probably null |
Het |
Hgs |
G |
A |
11: 120,360,481 (GRCm39) |
V60M |
probably damaging |
Het |
Inpp4b |
A |
G |
8: 82,571,343 (GRCm39) |
|
probably null |
Het |
Kdr |
C |
A |
5: 76,129,501 (GRCm39) |
A129S |
probably benign |
Het |
Lhcgr |
A |
T |
17: 89,049,801 (GRCm39) |
M575K |
probably damaging |
Het |
Lsamp |
G |
T |
16: 41,988,528 (GRCm39) |
|
probably benign |
Het |
Mcm5 |
T |
C |
8: 75,839,230 (GRCm39) |
V161A |
probably benign |
Het |
Mmp14 |
A |
T |
14: 54,675,115 (GRCm39) |
H249L |
probably damaging |
Het |
Mroh5 |
A |
G |
15: 73,662,604 (GRCm39) |
S405P |
probably damaging |
Het |
Mroh9 |
C |
A |
1: 162,903,873 (GRCm39) |
L46F |
probably damaging |
Het |
Mtrr |
A |
T |
13: 68,718,192 (GRCm39) |
H357Q |
probably damaging |
Het |
Myrf |
G |
A |
19: 10,206,149 (GRCm39) |
P89L |
probably benign |
Het |
Mzb1 |
C |
T |
18: 35,781,311 (GRCm39) |
|
probably null |
Het |
Naip6 |
A |
G |
13: 100,452,516 (GRCm39) |
S182P |
probably damaging |
Het |
Nmur2 |
A |
T |
11: 55,920,417 (GRCm39) |
F276Y |
probably damaging |
Het |
Nudt12 |
G |
T |
17: 59,318,140 (GRCm39) |
S35Y |
probably benign |
Het |
Or51h5 |
T |
A |
7: 102,577,585 (GRCm39) |
V250E |
probably damaging |
Het |
Or56b1 |
T |
C |
7: 104,284,886 (GRCm39) |
S2P |
probably benign |
Het |
Or9m1 |
A |
G |
2: 87,733,334 (GRCm39) |
S229P |
probably damaging |
Het |
Osbpl1a |
T |
C |
18: 12,889,318 (GRCm39) |
I541V |
probably benign |
Het |
Parp4 |
A |
G |
14: 56,884,694 (GRCm39) |
K1258E |
probably benign |
Het |
Plcxd2 |
C |
G |
16: 45,801,022 (GRCm39) |
K67N |
probably damaging |
Het |
Pnpla6 |
A |
G |
8: 3,586,627 (GRCm39) |
T930A |
probably benign |
Het |
Pomt1 |
G |
A |
2: 32,138,728 (GRCm39) |
|
probably null |
Het |
Ppp1r14bl |
A |
T |
1: 23,140,861 (GRCm39) |
L151Q |
probably benign |
Het |
Pramel6 |
A |
G |
2: 87,340,946 (GRCm39) |
Y426C |
possibly damaging |
Het |
Prss27 |
A |
G |
17: 24,263,235 (GRCm39) |
T83A |
probably damaging |
Het |
Rbm27 |
T |
A |
18: 42,466,383 (GRCm39) |
V915E |
probably damaging |
Het |
Rnf114 |
T |
A |
2: 167,345,408 (GRCm39) |
D10E |
probably benign |
Het |
Sbk1 |
A |
G |
7: 125,890,350 (GRCm39) |
E121G |
probably damaging |
Het |
Senp6 |
A |
T |
9: 80,000,907 (GRCm39) |
R39* |
probably null |
Het |
Sergef |
A |
T |
7: 46,283,250 (GRCm39) |
I94N |
probably benign |
Het |
Slc30a9 |
C |
T |
5: 67,485,867 (GRCm39) |
R183W |
probably benign |
Het |
Smurf1 |
C |
T |
5: 144,826,602 (GRCm39) |
R414H |
possibly damaging |
Het |
Sptb |
A |
T |
12: 76,653,166 (GRCm39) |
W1566R |
probably damaging |
Het |
Tenm2 |
T |
C |
11: 35,901,334 (GRCm39) |
|
probably null |
Het |
Tnni1 |
T |
C |
1: 135,733,304 (GRCm39) |
V42A |
probably benign |
Het |
Tnxb |
A |
G |
17: 34,938,513 (GRCm39) |
Y3098C |
probably damaging |
Het |
Ubald2 |
T |
C |
11: 116,325,400 (GRCm39) |
F46L |
probably benign |
Het |
Ubqln5 |
G |
A |
7: 103,777,465 (GRCm39) |
S453F |
probably damaging |
Het |
Ubr3 |
A |
T |
2: 69,809,773 (GRCm39) |
R1248* |
probably null |
Het |
Utp20 |
A |
G |
10: 88,604,780 (GRCm39) |
V1705A |
probably benign |
Het |
Zfp60 |
G |
A |
7: 27,449,228 (GRCm39) |
R632H |
probably benign |
Het |
Zfp638 |
A |
G |
6: 83,942,560 (GRCm39) |
Y957C |
probably damaging |
Het |
Zfp825 |
A |
T |
13: 74,629,029 (GRCm39) |
S162R |
possibly damaging |
Het |
Zfp831 |
A |
C |
2: 174,545,960 (GRCm39) |
K1355T |
probably benign |
Het |
|
Other mutations in Iqub |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01015:Iqub
|
APN |
6 |
24,501,005 (GRCm39) |
splice site |
probably benign |
|
IGL01447:Iqub
|
APN |
6 |
24,505,627 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01621:Iqub
|
APN |
6 |
24,446,211 (GRCm39) |
missense |
probably benign |
0.45 |
IGL01702:Iqub
|
APN |
6 |
24,500,312 (GRCm39) |
missense |
probably benign |
0.13 |
IGL01917:Iqub
|
APN |
6 |
24,479,318 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02411:Iqub
|
APN |
6 |
24,449,810 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02580:Iqub
|
APN |
6 |
24,501,398 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02704:Iqub
|
APN |
6 |
24,505,909 (GRCm39) |
splice site |
probably benign |
|
IGL02901:Iqub
|
APN |
6 |
24,454,194 (GRCm39) |
missense |
probably damaging |
1.00 |
D4043:Iqub
|
UTSW |
6 |
24,505,750 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0304:Iqub
|
UTSW |
6 |
24,454,290 (GRCm39) |
missense |
probably damaging |
0.99 |
R0391:Iqub
|
UTSW |
6 |
24,446,154 (GRCm39) |
missense |
probably benign |
0.00 |
R0453:Iqub
|
UTSW |
6 |
24,450,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R0464:Iqub
|
UTSW |
6 |
24,479,262 (GRCm39) |
nonsense |
probably null |
|
R0465:Iqub
|
UTSW |
6 |
24,503,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R0479:Iqub
|
UTSW |
6 |
24,505,809 (GRCm39) |
missense |
probably benign |
0.28 |
R0606:Iqub
|
UTSW |
6 |
24,501,260 (GRCm39) |
splice site |
probably benign |
|
R1146:Iqub
|
UTSW |
6 |
24,505,627 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1146:Iqub
|
UTSW |
6 |
24,505,627 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1238:Iqub
|
UTSW |
6 |
24,505,884 (GRCm39) |
missense |
probably benign |
0.03 |
R1452:Iqub
|
UTSW |
6 |
24,491,558 (GRCm39) |
missense |
probably benign |
0.13 |
R1927:Iqub
|
UTSW |
6 |
24,491,670 (GRCm39) |
missense |
probably benign |
0.11 |
R3195:Iqub
|
UTSW |
6 |
24,462,036 (GRCm39) |
splice site |
probably benign |
|
R4438:Iqub
|
UTSW |
6 |
24,505,867 (GRCm39) |
missense |
probably benign |
0.01 |
R4577:Iqub
|
UTSW |
6 |
24,501,290 (GRCm39) |
missense |
probably damaging |
0.99 |
R4671:Iqub
|
UTSW |
6 |
24,479,183 (GRCm39) |
missense |
probably benign |
0.00 |
R4860:Iqub
|
UTSW |
6 |
24,450,841 (GRCm39) |
missense |
probably damaging |
0.99 |
R4860:Iqub
|
UTSW |
6 |
24,450,841 (GRCm39) |
missense |
probably damaging |
0.99 |
R4906:Iqub
|
UTSW |
6 |
24,501,368 (GRCm39) |
missense |
probably damaging |
0.99 |
R5605:Iqub
|
UTSW |
6 |
24,505,620 (GRCm39) |
missense |
probably benign |
|
R5772:Iqub
|
UTSW |
6 |
24,454,250 (GRCm39) |
missense |
possibly damaging |
0.64 |
R5801:Iqub
|
UTSW |
6 |
24,449,768 (GRCm39) |
missense |
probably benign |
0.11 |
R5853:Iqub
|
UTSW |
6 |
24,491,601 (GRCm39) |
missense |
probably benign |
0.00 |
R6423:Iqub
|
UTSW |
6 |
24,491,528 (GRCm39) |
missense |
probably damaging |
0.98 |
R6475:Iqub
|
UTSW |
6 |
24,449,744 (GRCm39) |
missense |
probably damaging |
1.00 |
R6476:Iqub
|
UTSW |
6 |
24,449,744 (GRCm39) |
missense |
probably damaging |
1.00 |
R6701:Iqub
|
UTSW |
6 |
24,449,744 (GRCm39) |
missense |
probably damaging |
1.00 |
R6702:Iqub
|
UTSW |
6 |
24,449,744 (GRCm39) |
missense |
probably damaging |
1.00 |
R6703:Iqub
|
UTSW |
6 |
24,449,744 (GRCm39) |
missense |
probably damaging |
1.00 |
R6860:Iqub
|
UTSW |
6 |
24,505,737 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7331:Iqub
|
UTSW |
6 |
24,500,393 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7530:Iqub
|
UTSW |
6 |
24,450,622 (GRCm39) |
missense |
probably benign |
0.00 |
R7997:Iqub
|
UTSW |
6 |
24,501,413 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8050:Iqub
|
UTSW |
6 |
24,503,784 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8141:Iqub
|
UTSW |
6 |
24,491,608 (GRCm39) |
missense |
probably benign |
0.00 |
R8153:Iqub
|
UTSW |
6 |
24,450,789 (GRCm39) |
nonsense |
probably null |
|
R8163:Iqub
|
UTSW |
6 |
24,449,714 (GRCm39) |
missense |
probably benign |
0.01 |
R8702:Iqub
|
UTSW |
6 |
24,461,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R8824:Iqub
|
UTSW |
6 |
24,479,307 (GRCm39) |
nonsense |
probably null |
|
R8899:Iqub
|
UTSW |
6 |
24,505,768 (GRCm39) |
missense |
probably benign |
0.00 |
R9075:Iqub
|
UTSW |
6 |
24,446,124 (GRCm39) |
missense |
probably damaging |
1.00 |
R9186:Iqub
|
UTSW |
6 |
24,450,766 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9240:Iqub
|
UTSW |
6 |
24,505,622 (GRCm39) |
missense |
probably benign |
|
R9256:Iqub
|
UTSW |
6 |
24,446,198 (GRCm39) |
missense |
possibly damaging |
0.92 |
X0025:Iqub
|
UTSW |
6 |
24,500,383 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1088:Iqub
|
UTSW |
6 |
24,500,242 (GRCm39) |
splice site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTGTCTATTGATTCAGTAGAAACCC -3'
(R):5'- GATGAATGCTGCACCCCTTG -3'
Sequencing Primer
(F):5'- CCTTCAGCCACTGGTATATTAAAGGG -3'
(R):5'- TGGCATGTAGCTTCAGGA -3'
|
Posted On |
2018-05-21 |