Incidental Mutation 'R7997:Iqub'
| ID |
616131 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqub
|
| Ensembl Gene |
ENSMUSG00000046192 |
| Gene Name |
IQ motif and ubiquitin domain containing |
| Synonyms |
4932408B21Rik, Trs4 |
| MMRRC Submission |
046037-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7997 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
24444864-24515066 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24501413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 179
(N179S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052277]
|
| AlphaFold |
Q8CDK3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052277
AA Change: N179S
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000051177
Gene: ENSMUSG00000046192
AA Change: N179S
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| 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 |
|---|
| 1700024B05Rik |
G |
A |
14: 41,766,209 (GRCm39) |
|
probably benign |
Het |
| Abra |
A |
C |
15: 41,729,593 (GRCm39) |
M269R |
probably damaging |
Het |
| Atp6v0e2 |
A |
G |
6: 48,514,718 (GRCm39) |
I12V |
probably benign |
Het |
| Bicral |
T |
A |
17: 47,112,534 (GRCm39) |
I889F |
probably benign |
Het |
| Cabin1 |
A |
G |
10: 75,569,609 (GRCm39) |
V826A |
probably benign |
Het |
| Casq2 |
A |
T |
3: 101,994,158 (GRCm39) |
K68N |
probably damaging |
Het |
| Cdh23 |
C |
A |
10: 60,432,518 (GRCm39) |
Q135H |
possibly damaging |
Het |
| Chn2 |
A |
T |
6: 54,267,270 (GRCm39) |
H253L |
probably damaging |
Het |
| Dnajc22 |
A |
G |
15: 98,999,514 (GRCm39) |
E233G |
probably damaging |
Het |
| Fbxo6 |
A |
G |
4: 148,231,852 (GRCm39) |
S96P |
possibly damaging |
Het |
| Gimap6 |
G |
T |
6: 48,679,249 (GRCm39) |
N262K |
probably damaging |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Grid2 |
C |
A |
6: 64,297,120 (GRCm39) |
H494Q |
possibly damaging |
Het |
| Hmgcl |
T |
A |
4: 135,687,320 (GRCm39) |
Y198* |
probably null |
Het |
| Hmgxb4 |
A |
T |
8: 75,727,956 (GRCm39) |
Y313F |
probably damaging |
Het |
| Hr |
G |
A |
14: 70,801,043 (GRCm39) |
W676* |
probably null |
Het |
| Insc |
A |
G |
7: 114,444,372 (GRCm39) |
D453G |
probably damaging |
Het |
| Kdm3b |
T |
A |
18: 34,941,336 (GRCm39) |
S276T |
probably benign |
Het |
| Kmt2a |
C |
A |
9: 44,745,220 (GRCm39) |
K1597N |
unknown |
Het |
| Kntc1 |
T |
C |
5: 123,916,117 (GRCm39) |
V682A |
probably damaging |
Het |
| Mcm9 |
T |
A |
10: 53,473,502 (GRCm39) |
|
probably benign |
Het |
| Med30 |
T |
C |
15: 52,593,467 (GRCm39) |
L149P |
probably damaging |
Het |
| Mmd2 |
T |
A |
5: 142,560,615 (GRCm39) |
H102L |
possibly damaging |
Het |
| Mtres1 |
T |
C |
10: 43,401,356 (GRCm39) |
T198A |
probably benign |
Het |
| Mybph |
G |
A |
1: 134,122,405 (GRCm39) |
R150H |
probably damaging |
Het |
| Ndufaf4 |
A |
G |
4: 24,901,919 (GRCm39) |
T156A |
probably benign |
Het |
| Or2g1 |
T |
A |
17: 38,107,053 (GRCm39) |
C239* |
probably null |
Het |
| Pecr |
T |
A |
1: 72,315,475 (GRCm39) |
K92* |
probably null |
Het |
| Pithd1 |
T |
C |
4: 135,703,723 (GRCm39) |
T207A |
probably benign |
Het |
| Prdm10 |
T |
A |
9: 31,264,721 (GRCm39) |
C719S |
probably damaging |
Het |
| Rasef |
C |
A |
4: 73,658,799 (GRCm39) |
W316L |
possibly damaging |
Het |
| Robo1 |
T |
C |
16: 72,701,581 (GRCm39) |
V149A |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,702,968 (GRCm39) |
V5034D |
unknown |
Het |
| Slc26a10 |
A |
G |
10: 127,009,178 (GRCm39) |
V661A |
possibly damaging |
Het |
| Slc30a8 |
T |
G |
15: 52,189,081 (GRCm39) |
I232S |
possibly damaging |
Het |
| Smg1 |
A |
G |
7: 117,772,364 (GRCm39) |
F1464L |
unknown |
Het |
| Smg1 |
A |
C |
7: 117,772,365 (GRCm39) |
H1463Q |
unknown |
Het |
| Spata1 |
G |
A |
3: 146,182,035 (GRCm39) |
A245V |
probably benign |
Het |
| St8sia1 |
C |
T |
6: 142,909,376 (GRCm39) |
C40Y |
probably damaging |
Het |
| Strn |
T |
C |
17: 78,991,672 (GRCm39) |
T216A |
probably benign |
Het |
| Tecpr2 |
G |
A |
12: 110,900,037 (GRCm39) |
E802K |
probably benign |
Het |
| Tenm4 |
A |
G |
7: 96,523,512 (GRCm39) |
I1685V |
probably benign |
Het |
| Tyw5 |
T |
C |
1: 57,427,683 (GRCm39) |
D307G |
probably benign |
Het |
| Usp17le |
A |
T |
7: 104,418,046 (GRCm39) |
D365E |
possibly damaging |
Het |
| Vmn1r13 |
T |
G |
6: 57,187,329 (GRCm39) |
S163A |
possibly damaging |
Het |
| Vmn1r75 |
A |
T |
7: 11,614,600 (GRCm39) |
T111S |
probably damaging |
Het |
| Wdr95 |
G |
T |
5: 149,502,622 (GRCm39) |
|
probably null |
Het |
| Zfp292 |
G |
A |
4: 34,808,688 (GRCm39) |
P1457L |
probably damaging |
Het |
| Zfp606 |
T |
A |
7: 12,223,519 (GRCm39) |
V10E |
probably damaging |
Het |
| Zfp606 |
T |
C |
7: 12,228,134 (GRCm39) |
S752P |
possibly damaging |
Het |
| Zscan29 |
T |
G |
2: 120,991,221 (GRCm39) |
S856R |
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 |
|
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 |
|
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'- GGGCACACTAAAACACTTGG -3'
(R):5'- ATGTGTTCCTACAGTCAGCTTTG -3'
Sequencing Primer
(F):5'- GGTCTAACAGTTGTTAAGGACTCAC -3'
(R):5'- AGGAATATCTGGTTGATCACTGC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation