Incidental Mutation 'R6475:Iqub'
ID |
517372 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Iqub
|
Ensembl Gene |
ENSMUSG00000046192 |
Gene Name |
IQ motif and ubiquitin domain containing |
Synonyms |
4932408B21Rik, Trs4 |
MMRRC Submission |
044608-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6475 (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: 97.5%
- 20x: 92.0%
|
Validation Efficiency |
96% (54/56) |
Allele List at MGI |
All alleles(2) : Targeted, knock-out(2) |
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asb5 |
T |
A |
8: 55,003,610 (GRCm39) |
V44E |
probably damaging |
Het |
Bmpr2 |
T |
A |
1: 59,907,503 (GRCm39) |
D865E |
probably damaging |
Het |
Ccr4 |
A |
G |
9: 114,322,047 (GRCm39) |
V6A |
probably benign |
Het |
Cd209a |
A |
T |
8: 3,797,031 (GRCm39) |
D102E |
probably damaging |
Het |
Cdh18 |
A |
G |
15: 23,227,022 (GRCm39) |
D161G |
possibly damaging |
Het |
Cog4 |
T |
A |
8: 111,607,526 (GRCm39) |
I671N |
possibly damaging |
Het |
Col14a1 |
T |
G |
15: 55,309,218 (GRCm39) |
|
probably benign |
Het |
Cpne6 |
A |
G |
14: 55,751,110 (GRCm39) |
D173G |
probably damaging |
Het |
Daglb |
G |
T |
5: 143,467,406 (GRCm39) |
V275L |
probably benign |
Het |
Defb43 |
G |
T |
14: 63,249,321 (GRCm39) |
|
probably null |
Het |
Dhx30 |
A |
G |
9: 109,914,120 (GRCm39) |
V1022A |
possibly damaging |
Het |
Egfem1 |
A |
T |
3: 29,711,312 (GRCm39) |
K297M |
probably damaging |
Het |
Egfr |
A |
G |
11: 16,841,259 (GRCm39) |
I717V |
probably benign |
Het |
Eif2ak1 |
T |
G |
5: 143,803,765 (GRCm39) |
|
probably null |
Het |
Epb42 |
T |
C |
2: 120,857,614 (GRCm39) |
Y307C |
possibly damaging |
Het |
Erlec1 |
G |
A |
11: 30,898,442 (GRCm39) |
Q10* |
probably null |
Het |
Fam185a |
A |
G |
5: 21,630,281 (GRCm39) |
D39G |
probably benign |
Het |
Fbxl4 |
T |
A |
4: 22,433,661 (GRCm39) |
D599E |
probably damaging |
Het |
Fgfr2 |
T |
A |
7: 129,802,850 (GRCm39) |
T268S |
probably benign |
Het |
Gabra1 |
A |
T |
11: 42,053,382 (GRCm39) |
M84K |
probably benign |
Het |
Gba1 |
A |
G |
3: 89,113,235 (GRCm39) |
D222G |
probably benign |
Het |
Gm3409 |
T |
A |
5: 146,474,596 (GRCm39) |
H37Q |
possibly damaging |
Het |
Gm4559 |
A |
G |
7: 141,827,887 (GRCm39) |
C72R |
unknown |
Het |
Grik4 |
T |
C |
9: 42,540,304 (GRCm39) |
N292S |
probably benign |
Het |
Haao |
A |
G |
17: 84,139,113 (GRCm39) |
S274P |
possibly damaging |
Het |
Hsd17b4 |
T |
A |
18: 50,305,329 (GRCm39) |
|
probably null |
Het |
Igdcc4 |
A |
T |
9: 65,027,603 (GRCm39) |
S222C |
probably damaging |
Het |
Itgb7 |
T |
A |
15: 102,124,701 (GRCm39) |
D772V |
probably benign |
Het |
Kif14 |
T |
C |
1: 136,455,149 (GRCm39) |
L1607P |
probably damaging |
Het |
Klf5 |
A |
G |
14: 99,538,817 (GRCm39) |
T77A |
probably benign |
Het |
Klhl29 |
C |
T |
12: 5,141,030 (GRCm39) |
V605I |
probably damaging |
Het |
Map4k1 |
T |
C |
7: 28,686,447 (GRCm39) |
V105A |
probably damaging |
Het |
Mctp2 |
A |
T |
7: 71,850,092 (GRCm39) |
|
probably null |
Het |
Med12l |
A |
G |
3: 59,164,500 (GRCm39) |
E1364G |
probably damaging |
Het |
Mup9 |
A |
T |
4: 60,375,805 (GRCm39) |
D30E |
possibly damaging |
Het |
Naip1 |
T |
C |
13: 100,545,596 (GRCm39) |
R1311G |
probably damaging |
Het |
Or2ag2 |
A |
G |
7: 106,485,604 (GRCm39) |
V140A |
probably benign |
Het |
Or2v1 |
C |
T |
11: 49,025,760 (GRCm39) |
T247I |
probably benign |
Het |
Or4f14 |
G |
A |
2: 111,743,204 (GRCm39) |
Q24* |
probably null |
Het |
Or8g28 |
T |
A |
9: 39,169,378 (GRCm39) |
M197L |
probably benign |
Het |
Pkd1l3 |
A |
C |
8: 110,349,844 (GRCm39) |
T230P |
unknown |
Het |
Pthlh |
G |
T |
6: 147,158,688 (GRCm39) |
H91N |
probably damaging |
Het |
Rapgef5 |
T |
A |
12: 117,681,942 (GRCm39) |
V239D |
probably damaging |
Het |
Rita1 |
G |
A |
5: 120,749,635 (GRCm39) |
T26I |
probably damaging |
Het |
Robo3 |
T |
C |
9: 37,334,586 (GRCm39) |
T615A |
probably damaging |
Het |
Rpp38 |
T |
C |
2: 3,330,644 (GRCm39) |
D86G |
probably benign |
Het |
Sec31a |
T |
C |
5: 100,533,129 (GRCm39) |
T539A |
probably damaging |
Het |
Senp2 |
G |
T |
16: 21,842,550 (GRCm39) |
V205L |
probably damaging |
Het |
Septin10 |
T |
C |
10: 59,028,133 (GRCm39) |
N63D |
possibly damaging |
Het |
Sez6 |
A |
G |
11: 77,864,670 (GRCm39) |
|
|
Het |
Spesp1 |
C |
T |
9: 62,179,715 (GRCm39) |
V398I |
probably benign |
Het |
Tmbim7 |
G |
A |
5: 3,714,319 (GRCm39) |
G19S |
probably benign |
Het |
Tnni3k |
A |
T |
3: 154,646,695 (GRCm39) |
L431* |
probably null |
Het |
Trdn |
T |
A |
10: 33,340,551 (GRCm39) |
|
probably null |
Het |
Tubb2a |
A |
G |
13: 34,259,442 (GRCm39) |
V116A |
possibly damaging |
Het |
Ush1c |
T |
C |
7: 45,878,643 (GRCm39) |
D124G |
probably damaging |
Het |
Zfp768 |
A |
T |
7: 126,943,827 (GRCm39) |
F103L |
probably damaging |
Het |
Zfp799 |
A |
G |
17: 33,039,820 (GRCm39) |
S149P |
probably damaging |
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 |
R6476:Iqub
|
UTSW |
6 |
24,449,744 (GRCm39) |
missense |
probably damaging |
1.00 |
R6477: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'- GCCCCAGATAACTGTCTATTGATTC -3'
(R):5'- GATGAATGCTGCACCCCTTG -3'
Sequencing Primer
(F):5'- TTGATTCAGTAGAAACCCTTCAGCC -3'
(R):5'- TGGCATGTAGCTTCAGGA -3'
|
Posted On |
2018-05-21 |