Incidental Mutation 'R5853:Iqub'
| ID |
454758 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqub
|
| Ensembl Gene |
ENSMUSG00000046192 |
| Gene Name |
IQ motif and ubiquitin domain containing |
| Synonyms |
4932408B21Rik, Trs4 |
| MMRRC Submission |
044068-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5853 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
24444864-24515066 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24491601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 362
(K362E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052277]
|
| AlphaFold |
Q8CDK3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052277
AA Change: K362E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000051177
Gene: ENSMUSG00000046192
AA Change: K362E
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted, knock-out(2) |
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
G |
A |
7: 119,939,806 (GRCm39) |
V303I |
probably benign |
Het |
| Abca4 |
G |
T |
3: 121,897,180 (GRCm39) |
V620L |
probably benign |
Het |
| Ankk1 |
A |
T |
9: 49,329,995 (GRCm39) |
V320E |
possibly damaging |
Het |
| Aoah |
G |
T |
13: 21,184,072 (GRCm39) |
A379S |
probably benign |
Het |
| Apol7e |
A |
G |
15: 77,598,667 (GRCm39) |
D44G |
probably benign |
Het |
| Atf2 |
T |
C |
2: 73,658,813 (GRCm39) |
|
probably null |
Het |
| Cd209b |
T |
C |
8: 3,976,549 (GRCm39) |
|
probably null |
Het |
| Chek1 |
G |
A |
9: 36,624,983 (GRCm39) |
S366L |
probably damaging |
Het |
| Chpf2 |
T |
C |
5: 24,797,190 (GRCm39) |
L712P |
probably damaging |
Het |
| Clmn |
C |
A |
12: 104,750,161 (GRCm39) |
|
probably null |
Het |
| Cnksr3 |
T |
C |
10: 7,092,977 (GRCm39) |
D178G |
probably benign |
Het |
| Cpox |
T |
C |
16: 58,495,780 (GRCm39) |
Y366H |
probably damaging |
Het |
| Dnah3 |
A |
G |
7: 119,538,056 (GRCm39) |
F3632S |
probably damaging |
Het |
| Eif5b |
T |
A |
1: 38,076,388 (GRCm39) |
D645E |
probably damaging |
Het |
| Emilin1 |
G |
A |
5: 31,075,966 (GRCm39) |
E736K |
probably damaging |
Het |
| Gcnt4 |
G |
A |
13: 97,083,160 (GRCm39) |
R152Q |
probably benign |
Het |
| Il6st |
T |
C |
13: 112,618,071 (GRCm39) |
S162P |
probably damaging |
Het |
| Kif22 |
G |
T |
7: 126,632,539 (GRCm39) |
P257Q |
possibly damaging |
Het |
| Lhx2 |
T |
C |
2: 38,259,053 (GRCm39) |
V378A |
probably damaging |
Het |
| Lipo3 |
A |
G |
19: 33,759,630 (GRCm39) |
V202A |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,553,738 (GRCm39) |
N366I |
unknown |
Het |
| Mbip |
T |
C |
12: 56,382,662 (GRCm39) |
D268G |
probably damaging |
Het |
| Mc5r |
A |
G |
18: 68,472,564 (GRCm39) |
M308V |
probably benign |
Het |
| Mndal |
C |
A |
1: 173,690,070 (GRCm39) |
G420V |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,899,822 (GRCm39) |
N1442K |
probably damaging |
Het |
| Ndufv1 |
A |
T |
19: 4,058,811 (GRCm39) |
|
probably null |
Het |
| Ofcc1 |
A |
G |
13: 40,360,193 (GRCm39) |
S279P |
probably benign |
Het |
| Or4k2 |
A |
T |
14: 50,424,326 (GRCm39) |
M116K |
possibly damaging |
Het |
| Or6b2b |
T |
C |
1: 92,419,439 (GRCm39) |
I13V |
probably benign |
Het |
| Pabpc1l |
A |
T |
2: 163,891,438 (GRCm39) |
H552L |
probably benign |
Het |
| Pigr |
T |
A |
1: 130,774,341 (GRCm39) |
C440* |
probably null |
Het |
| Pramel11 |
A |
G |
4: 143,623,490 (GRCm39) |
V228A |
probably benign |
Het |
| Prss30 |
C |
T |
17: 24,191,820 (GRCm39) |
V271I |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,741,234 (GRCm39) |
|
probably null |
Het |
| Qrich1 |
T |
A |
9: 108,410,807 (GRCm39) |
|
probably benign |
Het |
| Rem1 |
C |
G |
2: 152,470,200 (GRCm39) |
A62G |
possibly damaging |
Het |
| Rftn1 |
T |
C |
17: 50,354,354 (GRCm39) |
N58S |
probably damaging |
Het |
| Rp9 |
G |
A |
9: 22,360,065 (GRCm39) |
|
probably benign |
Het |
| Rrp1b |
G |
A |
17: 32,275,658 (GRCm39) |
V402I |
possibly damaging |
Het |
| Slc25a33 |
A |
T |
4: 149,838,349 (GRCm39) |
Y108N |
probably benign |
Het |
| Slc3a1 |
A |
G |
17: 85,340,008 (GRCm39) |
M189V |
probably damaging |
Het |
| Slc44a1 |
A |
C |
4: 53,528,682 (GRCm39) |
K144T |
probably benign |
Het |
| Tbc1d13 |
T |
A |
2: 30,027,393 (GRCm39) |
H100Q |
probably damaging |
Het |
| Timm29 |
T |
C |
9: 21,504,749 (GRCm39) |
V139A |
probably damaging |
Het |
| Tmem70 |
T |
C |
1: 16,735,556 (GRCm39) |
W9R |
possibly damaging |
Het |
| Tspan1 |
A |
G |
4: 116,020,502 (GRCm39) |
|
probably null |
Het |
| Unc13a |
T |
C |
8: 72,107,773 (GRCm39) |
|
probably null |
Het |
| Uroc1 |
T |
C |
6: 90,323,738 (GRCm39) |
F395S |
probably damaging |
Het |
| Uvrag |
A |
C |
7: 98,537,284 (GRCm39) |
L637R |
possibly damaging |
Het |
| Vmn1r213 |
T |
G |
13: 23,195,684 (GRCm39) |
L3W |
probably benign |
Het |
| Zfp280d |
C |
T |
9: 72,238,224 (GRCm39) |
T528I |
probably benign |
Het |
| Zfp526 |
C |
T |
7: 24,924,601 (GRCm39) |
Q287* |
probably null |
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 |
|
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 |
|
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'- AGATCCCTACAACAACAGTGTCTTTC -3'
(R):5'- TTCAGACTAATTTCCTAAGTTCGGC -3'
Sequencing Primer
(F):5'- TCCCCATGAAGCCTGCTTGAG -3'
(R):5'- ACTAATTTCCTAAGTTCGGCGGGTC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation