Incidental Mutation 'R8153:Iqub'
| ID |
633133 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqub
|
| Ensembl Gene |
ENSMUSG00000046192 |
| Gene Name |
IQ motif and ubiquitin domain containing |
| Synonyms |
4932408B21Rik, Trs4 |
| MMRRC Submission |
067579-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8153 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
24444864-24515066 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to C
at 24450789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 603
(Y603*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052277]
|
| AlphaFold |
Q8CDK3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000052277
AA Change: Y603*
|
| SMART Domains |
Protein: ENSMUSP00000051177
Gene: ENSMUSG00000046192
AA Change: Y603*
| 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: 99.9%
- 10x: 99.5%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted, knock-out(2) |
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
A |
7: 41,275,157 (GRCm39) |
S287T |
probably benign |
Het |
| Abca15 |
T |
C |
7: 119,999,812 (GRCm39) |
S1429P |
probably damaging |
Het |
| Arfgef2 |
GTGTGCAGAAACT |
GT |
2: 166,676,383 (GRCm39) |
92 |
probably null |
Het |
| C1qb |
A |
G |
4: 136,607,877 (GRCm39) |
V162A |
possibly damaging |
Het |
| Cachd1 |
G |
T |
4: 100,845,835 (GRCm39) |
|
probably null |
Het |
| Cfap61 |
T |
C |
2: 146,042,704 (GRCm39) |
I1159T |
probably benign |
Het |
| Csf1 |
T |
A |
3: 107,656,020 (GRCm39) |
D337V |
probably damaging |
Het |
| Ddhd2 |
T |
A |
8: 26,240,816 (GRCm39) |
T251S |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,384,576 (GRCm39) |
T3107A |
probably damaging |
Het |
| Dnph1 |
T |
C |
17: 46,809,965 (GRCm39) |
V169A |
probably benign |
Het |
| Ebf2 |
T |
C |
14: 67,627,914 (GRCm39) |
V303A |
probably damaging |
Het |
| Eif4a3l2 |
A |
T |
6: 116,528,968 (GRCm39) |
I282F |
probably damaging |
Het |
| Enpp3 |
A |
G |
10: 24,685,777 (GRCm39) |
F206S |
probably damaging |
Het |
| Fam151b |
G |
T |
13: 92,614,410 (GRCm39) |
T26K |
probably damaging |
Het |
| Fga |
T |
C |
3: 82,938,164 (GRCm39) |
S180P |
probably damaging |
Het |
| Fpr-rs3 |
A |
G |
17: 20,844,685 (GRCm39) |
L152P |
probably damaging |
Het |
| Gen1 |
C |
A |
12: 11,310,948 (GRCm39) |
G95W |
probably damaging |
Het |
| Ggta1 |
T |
A |
2: 35,313,333 (GRCm39) |
T3S |
possibly damaging |
Het |
| Gm4884 |
T |
A |
7: 40,692,582 (GRCm39) |
C184S |
probably benign |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Gsx2 |
T |
C |
5: 75,237,716 (GRCm39) |
S223P |
probably damaging |
Het |
| Hnf4g |
C |
T |
3: 3,699,250 (GRCm39) |
|
probably benign |
Het |
| Klhl22 |
A |
G |
16: 17,610,414 (GRCm39) |
N555S |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,829,724 (GRCm39) |
D1928G |
probably benign |
Het |
| Lamb2 |
C |
T |
9: 108,357,845 (GRCm39) |
R123W |
probably damaging |
Het |
| Lamc2 |
CATCAGCTA |
CA |
1: 152,999,850 (GRCm39) |
|
probably null |
Het |
| Lgr4 |
T |
A |
2: 109,830,645 (GRCm39) |
F255I |
probably damaging |
Het |
| Lnx2 |
T |
C |
5: 146,964,906 (GRCm39) |
N439S |
probably benign |
Het |
| Lztr1 |
G |
T |
16: 17,336,439 (GRCm39) |
|
probably null |
Het |
| Mtcl3 |
G |
T |
10: 29,024,235 (GRCm39) |
E384* |
probably null |
Het |
| Nfkb2 |
G |
T |
19: 46,296,455 (GRCm39) |
R241L |
probably damaging |
Het |
| Nrcam |
T |
C |
12: 44,631,755 (GRCm39) |
F1103L |
probably benign |
Het |
| Or2g1 |
A |
G |
17: 38,106,367 (GRCm39) |
I11V |
probably benign |
Het |
| Or5k17 |
A |
G |
16: 58,746,149 (GRCm39) |
S262P |
possibly damaging |
Het |
| Or8d2 |
A |
G |
9: 38,759,631 (GRCm39) |
I74V |
possibly damaging |
Het |
| Or8g52 |
A |
G |
9: 39,630,954 (GRCm39) |
M144V |
possibly damaging |
Het |
| Otof |
C |
A |
5: 30,546,079 (GRCm39) |
A425S |
probably damaging |
Het |
| Parg |
T |
A |
14: 31,984,777 (GRCm39) |
L774H |
probably damaging |
Het |
| Pcnx1 |
C |
T |
12: 81,965,593 (GRCm39) |
R59* |
probably null |
Het |
| Pcnx4 |
T |
A |
12: 72,603,017 (GRCm39) |
F426L |
probably benign |
Het |
| Pde5a |
T |
G |
3: 122,646,225 (GRCm39) |
S805R |
probably benign |
Het |
| Pde5a |
T |
A |
3: 122,646,227 (GRCm39) |
M806K |
probably damaging |
Het |
| Plekhh1 |
T |
C |
12: 79,125,812 (GRCm39) |
S1283P |
probably benign |
Het |
| Ppp1r12a |
A |
G |
10: 107,998,303 (GRCm39) |
K15E |
probably damaging |
Het |
| Prkdc |
A |
T |
16: 15,482,108 (GRCm39) |
M384L |
probably damaging |
Het |
| Ptchd4 |
A |
G |
17: 42,814,787 (GRCm39) |
D896G |
probably benign |
Het |
| Rsf1 |
GGC |
GGCTACGGCCGC |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Slmap |
T |
C |
14: 26,254,488 (GRCm39) |
S65G |
probably benign |
Het |
| Snta1 |
C |
A |
2: 154,222,722 (GRCm39) |
L298F |
probably damaging |
Het |
| Sphkap |
T |
G |
1: 83,255,730 (GRCm39) |
N673T |
possibly damaging |
Het |
| St8sia5 |
T |
G |
18: 77,340,807 (GRCm39) |
|
probably null |
Het |
| Tgm6 |
T |
C |
2: 129,986,975 (GRCm39) |
V481A |
probably benign |
Het |
| Thada |
T |
C |
17: 84,700,855 (GRCm39) |
N1217S |
possibly damaging |
Het |
| Tia1 |
C |
G |
6: 86,397,314 (GRCm39) |
H107D |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,746,956 (GRCm39) |
Y4698H |
probably benign |
Het |
| Ube3c |
T |
C |
5: 29,811,929 (GRCm39) |
Y390H |
possibly damaging |
Het |
| Ubqln5 |
A |
G |
7: 103,778,011 (GRCm39) |
I271T |
possibly damaging |
Het |
| Vmn2r109 |
A |
G |
17: 20,784,969 (GRCm39) |
V17A |
probably benign |
Het |
| Xkr9 |
A |
G |
1: 13,754,363 (GRCm39) |
D119G |
probably benign |
Het |
| Zfp236 |
C |
T |
18: 82,648,152 (GRCm39) |
C1003Y |
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 |
|
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 |
|
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'- AGAAAAGCAATCTGGGAGTTATCC -3'
(R):5'- TGCTTGGGATTTAAGTCTCACAC -3'
Sequencing Primer
(F):5'- GGAGTTATCCCCATAATCAGCTTCAG -3'
(R):5'- CCTTCTGCTTAGTATGTGTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation