Incidental Mutation 'R8141:Iqub'
ID |
632534 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Iqub
|
Ensembl Gene |
ENSMUSG00000046192 |
Gene Name |
IQ motif and ubiquitin domain containing |
Synonyms |
4932408B21Rik, Trs4 |
MMRRC Submission |
067569-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8141 (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 24491608 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 359
(K359N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051177
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052277]
|
AlphaFold |
Q8CDK3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000052277
AA Change: K359N
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000051177 Gene: ENSMUSG00000046192 AA Change: K359N
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: 99.8%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 90.7%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
All alleles(2) : Targeted, knock-out(2) |
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
T |
C |
9: 57,165,688 (GRCm39) |
T229A |
probably benign |
Het |
4930438A08Rik |
A |
G |
11: 58,177,411 (GRCm39) |
E40G |
|
Het |
Actn2 |
T |
C |
13: 12,303,516 (GRCm39) |
D428G |
probably damaging |
Het |
Arl14epl |
C |
A |
18: 47,059,410 (GRCm39) |
N8K |
probably benign |
Het |
Bend7 |
T |
C |
2: 4,757,636 (GRCm39) |
V226A |
probably benign |
Het |
C1s1 |
A |
T |
6: 124,508,321 (GRCm39) |
L556Q |
probably damaging |
Het |
Casr |
T |
C |
16: 36,315,173 (GRCm39) |
K966E |
probably damaging |
Het |
Ccm2l |
T |
C |
2: 152,912,791 (GRCm39) |
L110P |
probably damaging |
Het |
Cdhr4 |
G |
A |
9: 107,873,991 (GRCm39) |
R59H |
|
Het |
Celf3 |
C |
A |
3: 94,395,850 (GRCm39) |
N410K |
probably damaging |
Het |
Cfap251 |
T |
G |
5: 123,424,493 (GRCm39) |
V726G |
possibly damaging |
Het |
Cpne6 |
T |
C |
14: 55,750,066 (GRCm39) |
C66R |
possibly damaging |
Het |
Cyp2f2 |
G |
A |
7: 26,828,678 (GRCm39) |
V183I |
probably benign |
Het |
Eln |
CTCCAGCTCCGAT |
C |
5: 134,758,003 (GRCm39) |
|
probably benign |
Het |
Fam53b |
A |
C |
7: 132,361,758 (GRCm39) |
V90G |
probably damaging |
Het |
Fat3 |
T |
A |
9: 15,908,362 (GRCm39) |
I2547F |
possibly damaging |
Het |
Foxk1 |
A |
G |
5: 142,439,716 (GRCm39) |
Y524C |
probably damaging |
Het |
Gpr87 |
A |
G |
3: 59,087,020 (GRCm39) |
S162P |
probably damaging |
Het |
Ifi204 |
A |
G |
1: 173,583,189 (GRCm39) |
V343A |
possibly damaging |
Het |
Igsf10 |
A |
G |
3: 59,237,949 (GRCm39) |
L744P |
probably damaging |
Het |
Kdm3b |
A |
T |
18: 34,961,599 (GRCm39) |
K1459* |
probably null |
Het |
Kirrel1 |
C |
T |
3: 86,993,735 (GRCm39) |
W507* |
probably null |
Het |
Klra17 |
T |
C |
6: 129,849,292 (GRCm39) |
D94G |
probably damaging |
Het |
Llgl1 |
G |
C |
11: 60,601,142 (GRCm39) |
E693D |
probably benign |
Het |
Lrrc37 |
T |
C |
11: 103,511,855 (GRCm39) |
T38A |
unknown |
Het |
Lypd4 |
A |
T |
7: 24,564,254 (GRCm39) |
D201E |
possibly damaging |
Het |
Nin |
A |
G |
12: 70,076,795 (GRCm39) |
S1794P |
|
Het |
Oog2 |
T |
C |
4: 143,920,777 (GRCm39) |
L70P |
probably damaging |
Het |
Or6n2 |
T |
C |
1: 173,897,488 (GRCm39) |
L208P |
probably damaging |
Het |
Pacsin1 |
G |
T |
17: 27,926,034 (GRCm39) |
R282S |
possibly damaging |
Het |
Pcdhb9 |
T |
A |
18: 37,535,361 (GRCm39) |
Y452N |
probably damaging |
Het |
Pdgfra |
T |
C |
5: 75,338,387 (GRCm39) |
V547A |
possibly damaging |
Het |
Plcb4 |
T |
C |
2: 135,781,169 (GRCm39) |
F209L |
probably damaging |
Het |
Pnpla6 |
T |
C |
8: 3,571,384 (GRCm39) |
S158P |
probably benign |
Het |
Prlhr |
C |
G |
19: 60,455,747 (GRCm39) |
R273P |
probably damaging |
Het |
Prss41 |
G |
A |
17: 24,056,607 (GRCm39) |
P196L |
probably damaging |
Het |
Ptgr3 |
T |
C |
18: 84,112,651 (GRCm39) |
L109P |
probably benign |
Het |
Ptpn22 |
A |
G |
3: 103,793,643 (GRCm39) |
E598G |
possibly damaging |
Het |
Rasal2 |
T |
C |
1: 156,992,240 (GRCm39) |
D569G |
possibly damaging |
Het |
Sf3b3 |
A |
C |
8: 111,547,483 (GRCm39) |
M715R |
possibly damaging |
Het |
Ska1 |
T |
C |
18: 74,339,907 (GRCm39) |
N13S |
probably benign |
Het |
Spocd1 |
A |
C |
4: 129,823,497 (GRCm39) |
E98A |
|
Het |
Sycp1 |
G |
T |
3: 102,842,885 (GRCm39) |
A28E |
possibly damaging |
Het |
Syf2 |
C |
T |
4: 134,664,182 (GRCm39) |
R199C |
probably damaging |
Het |
Syne2 |
A |
G |
12: 76,108,442 (GRCm39) |
D942G |
possibly damaging |
Het |
Tamalin |
T |
A |
15: 101,129,790 (GRCm39) |
C358S |
possibly damaging |
Het |
Tmem63a |
A |
G |
1: 180,801,776 (GRCm39) |
T764A |
probably benign |
Het |
Ttf1 |
C |
T |
2: 28,957,238 (GRCm39) |
Q503* |
probably null |
Het |
Usp13 |
T |
C |
3: 32,949,025 (GRCm39) |
V454A |
possibly damaging |
Het |
Usp47 |
A |
G |
7: 111,652,472 (GRCm39) |
T50A |
possibly damaging |
Het |
Zfyve26 |
A |
T |
12: 79,315,331 (GRCm39) |
C1382S |
possibly 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 |
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 |
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'- GGAGATCCCTACAACAACAGTG -3'
(R):5'- TCAGACTAATTTCCTAAGTTCGGC -3'
Sequencing Primer
(F):5'- AAGCCTGCTTGAGCTTCCAG -3'
(R):5'- ACTAATTTCCTAAGTTCGGCGGGTC -3'
|
Posted On |
2020-06-30 |