Incidental Mutation 'R7530:Iqub'
| ID |
583257 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqub
|
| Ensembl Gene |
ENSMUSG00000046192 |
| Gene Name |
IQ motif and ubiquitin domain containing |
| Synonyms |
4932408B21Rik, Trs4 |
| MMRRC Submission |
045602-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7530 (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 C
at 24450622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 659
(Q659R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052277]
|
| AlphaFold |
Q8CDK3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052277
AA Change: Q659R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000051177
Gene: ENSMUSG00000046192
AA Change: Q659R
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (52/53) |
| 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 |
|---|
| 6430550D23Rik |
C |
T |
2: 155,845,840 (GRCm39) |
V6I |
probably benign |
Het |
| Atp10a |
A |
G |
7: 58,423,724 (GRCm39) |
T230A |
probably benign |
Het |
| Atp5mc2 |
A |
T |
15: 102,576,183 (GRCm39) |
M1K |
probably null |
Het |
| Atp8a1 |
A |
C |
5: 67,902,971 (GRCm39) |
L535R |
|
Het |
| Bsn |
A |
G |
9: 107,989,155 (GRCm39) |
I2199T |
probably damaging |
Het |
| Ccdc73 |
A |
G |
2: 104,824,915 (GRCm39) |
T155A |
|
Het |
| Cdc42bpg |
T |
G |
19: 6,372,305 (GRCm39) |
F1430L |
probably benign |
Het |
| Cdc42bpg |
G |
T |
19: 6,372,306 (GRCm39) |
V1431L |
probably benign |
Het |
| Chat |
A |
T |
14: 32,130,915 (GRCm39) |
Y575* |
probably null |
Het |
| Cimip4 |
T |
C |
15: 78,270,516 (GRCm39) |
D84G |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,945,589 (GRCm39) |
C842S |
probably damaging |
Het |
| Coq2 |
T |
C |
5: 100,822,008 (GRCm39) |
S34G |
probably benign |
Het |
| Crybg1 |
C |
T |
10: 43,875,069 (GRCm39) |
A680T |
possibly damaging |
Het |
| Ctsr |
T |
A |
13: 61,310,931 (GRCm39) |
K38N |
probably damaging |
Het |
| Dpm2 |
T |
C |
2: 32,462,313 (GRCm39) |
F33S |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,815,317 (GRCm39) |
M1322T |
probably damaging |
Het |
| Ext2 |
T |
A |
2: 93,491,998 (GRCm39) |
H564L |
probably benign |
Het |
| Fbxl2 |
G |
T |
9: 113,818,241 (GRCm39) |
H202N |
probably benign |
Het |
| Fra10ac1 |
A |
T |
19: 38,204,353 (GRCm39) |
Y74* |
probably null |
Het |
| Greb1 |
T |
A |
12: 16,767,207 (GRCm39) |
I332F |
probably benign |
Het |
| Ifnar2 |
A |
G |
16: 91,201,201 (GRCm39) |
S481G |
probably benign |
Het |
| Igkv9-123 |
G |
A |
6: 67,931,381 (GRCm39) |
P62S |
possibly damaging |
Het |
| Kansl2 |
T |
C |
15: 98,426,896 (GRCm39) |
T242A |
probably benign |
Het |
| Kif28 |
C |
T |
1: 179,536,045 (GRCm39) |
G543D |
probably benign |
Het |
| Lsg1 |
A |
G |
16: 30,401,419 (GRCm39) |
S93P |
possibly damaging |
Het |
| Med23 |
T |
A |
10: 24,781,851 (GRCm39) |
C1052S |
probably benign |
Het |
| Mgam |
G |
T |
6: 40,686,152 (GRCm39) |
|
probably null |
Het |
| Mtmr4 |
C |
T |
11: 87,502,702 (GRCm39) |
R919W |
probably damaging |
Het |
| Muc5ac |
G |
T |
7: 141,367,536 (GRCm39) |
V2986L |
possibly damaging |
Het |
| Myo5b |
A |
G |
18: 74,864,802 (GRCm39) |
E1340G |
probably benign |
Het |
| Nkd2 |
T |
C |
13: 73,995,078 (GRCm39) |
D40G |
possibly damaging |
Het |
| Nudt5 |
T |
C |
2: 5,869,179 (GRCm39) |
L135S |
probably damaging |
Het |
| Oca2 |
A |
C |
7: 55,981,720 (GRCm39) |
D614A |
probably damaging |
Het |
| Or1e16 |
A |
G |
11: 73,279,189 (GRCm39) |
V221A |
possibly damaging |
Het |
| Or6c201 |
A |
C |
10: 128,969,849 (GRCm39) |
|
probably null |
Het |
| Or8k24 |
T |
A |
2: 86,216,515 (GRCm39) |
L82F |
probably damaging |
Het |
| Plec |
C |
A |
15: 76,069,844 (GRCm39) |
A991S |
unknown |
Het |
| Plekhg2 |
G |
A |
7: 28,061,353 (GRCm39) |
R817C |
probably damaging |
Het |
| Plrg1 |
T |
A |
3: 82,965,989 (GRCm39) |
L48H |
probably damaging |
Het |
| Prx |
A |
G |
7: 27,207,397 (GRCm39) |
E18G |
probably damaging |
Het |
| Ptprf |
T |
C |
4: 118,069,945 (GRCm39) |
Y1479C |
probably damaging |
Het |
| Rap1b |
A |
T |
10: 117,653,357 (GRCm39) |
Y159* |
probably null |
Het |
| Rbck1 |
T |
C |
2: 152,166,212 (GRCm39) |
E242G |
possibly damaging |
Het |
| Rxfp1 |
T |
C |
3: 79,557,768 (GRCm39) |
D570G |
probably benign |
Het |
| Slc35f5 |
G |
T |
1: 125,512,275 (GRCm39) |
L358F |
probably damaging |
Het |
| Smarcd2 |
A |
G |
11: 106,156,587 (GRCm39) |
W274R |
probably damaging |
Het |
| Spata6l |
A |
T |
19: 28,926,121 (GRCm39) |
Y43* |
probably null |
Het |
| Ssu72 |
A |
G |
4: 155,815,786 (GRCm39) |
T77A |
probably benign |
Het |
| Tomm40 |
G |
A |
7: 19,436,829 (GRCm39) |
T297I |
possibly damaging |
Het |
| Urb1 |
A |
T |
16: 90,558,522 (GRCm39) |
I1743N |
probably damaging |
Het |
| Utp20 |
G |
A |
10: 88,588,868 (GRCm39) |
R2434C |
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 |
|
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 |
|
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'- CTCTGACAGATAAATTTCACGTGC -3'
(R):5'- GCCAAAATTATTTGCCTTCTGTGG -3'
Sequencing Primer
(F):5'- GAAGAGGGCATCAGATTCCCCTC -3'
(R):5'- GTGGAGTTTTCTGTCTCACCCAC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation