Incidental Mutation 'R4438:Iqub'
| ID |
329620 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqub
|
| Ensembl Gene |
ENSMUSG00000046192 |
| Gene Name |
IQ motif and ubiquitin domain containing |
| Synonyms |
4932408B21Rik, Trs4 |
| MMRRC Submission |
041703-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4438 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
24444864-24515066 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 24505867 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 14
(A14S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052277]
|
| AlphaFold |
Q8CDK3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052277
AA Change: A14S
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000051177
Gene: ENSMUSG00000046192
AA Change: A14S
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
All alleles(2) : Targeted, knock-out(2) |
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1 |
T |
A |
2: 58,367,739 (GRCm39) |
I141F |
probably benign |
Het |
| Adam6b |
A |
C |
12: 113,454,281 (GRCm39) |
Q366P |
probably damaging |
Het |
| Adck1 |
C |
T |
12: 88,397,920 (GRCm39) |
Q185* |
probably null |
Het |
| Adgrb3 |
T |
C |
1: 25,870,108 (GRCm39) |
|
probably benign |
Het |
| Als2cl |
T |
C |
9: 110,714,466 (GRCm39) |
S105P |
probably damaging |
Het |
| Asns |
C |
A |
6: 7,675,320 (GRCm39) |
A561S |
probably benign |
Het |
| Bcl2a1d |
A |
T |
9: 88,613,753 (GRCm39) |
M7K |
probably benign |
Het |
| Bst1 |
A |
T |
5: 43,982,682 (GRCm39) |
|
probably null |
Het |
| Cdc37l1 |
T |
C |
19: 28,985,021 (GRCm39) |
F224L |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,763,191 (GRCm39) |
T1215I |
possibly damaging |
Het |
| Csnk1e |
A |
T |
15: 79,305,129 (GRCm39) |
S323T |
probably benign |
Het |
| Cyp2j7 |
G |
T |
4: 96,105,646 (GRCm39) |
T288K |
probably benign |
Het |
| Dnaaf5 |
T |
A |
5: 139,149,147 (GRCm39) |
I482N |
probably damaging |
Het |
| Dpy19l3 |
A |
G |
7: 35,392,284 (GRCm39) |
I636T |
probably damaging |
Het |
| Enpep |
T |
G |
3: 129,077,740 (GRCm39) |
T626P |
possibly damaging |
Het |
| Fgfr2 |
G |
A |
7: 129,774,660 (GRCm39) |
R509* |
probably null |
Het |
| Gm5849 |
T |
A |
3: 90,685,182 (GRCm39) |
K1M |
probably null |
Het |
| Gpr83 |
T |
C |
9: 14,776,134 (GRCm39) |
Y152H |
probably damaging |
Het |
| Hdac7 |
T |
C |
15: 97,705,596 (GRCm39) |
E400G |
probably damaging |
Het |
| Hypk |
A |
T |
2: 121,288,475 (GRCm39) |
E82V |
probably damaging |
Het |
| Lias |
T |
C |
5: 65,552,787 (GRCm39) |
M130T |
probably damaging |
Het |
| Lingo4 |
T |
C |
3: 94,310,204 (GRCm39) |
S381P |
possibly damaging |
Het |
| Mdn1 |
A |
G |
4: 32,704,635 (GRCm39) |
T1536A |
probably damaging |
Het |
| Moxd2 |
T |
A |
6: 40,860,996 (GRCm39) |
D265V |
probably damaging |
Het |
| Mtbp |
C |
A |
15: 55,466,611 (GRCm39) |
S541R |
probably benign |
Het |
| Or10j27 |
C |
A |
1: 172,957,869 (GRCm39) |
C305F |
probably benign |
Het |
| Or2a54 |
T |
C |
6: 43,093,221 (GRCm39) |
S182P |
probably benign |
Het |
| Or4k15b |
T |
C |
14: 50,272,287 (GRCm39) |
D191G |
probably damaging |
Het |
| Pcsk9 |
G |
T |
4: 106,316,156 (GRCm39) |
Q96K |
probably benign |
Het |
| Pramel14 |
T |
C |
4: 143,718,192 (GRCm39) |
Y417C |
probably damaging |
Het |
| Rln1 |
A |
T |
19: 29,311,962 (GRCm39) |
F12Y |
possibly damaging |
Het |
| Setd1a |
A |
G |
7: 127,384,903 (GRCm39) |
N585D |
possibly damaging |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Smarcal1 |
T |
C |
1: 72,650,637 (GRCm39) |
|
probably benign |
Het |
| Snx19 |
G |
T |
9: 30,339,895 (GRCm39) |
L344F |
probably benign |
Het |
| Srfbp1 |
T |
C |
18: 52,621,403 (GRCm39) |
C155R |
probably benign |
Het |
| Sspo |
C |
T |
6: 48,464,287 (GRCm39) |
R3914C |
probably damaging |
Het |
| Tacc2 |
G |
A |
7: 130,225,271 (GRCm39) |
S652N |
probably damaging |
Het |
| Tmub1 |
A |
C |
5: 24,651,068 (GRCm39) |
L197R |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,926,066 (GRCm39) |
T905A |
possibly damaging |
Het |
| Tnfrsf21 |
G |
T |
17: 43,398,733 (GRCm39) |
R613L |
possibly damaging |
Het |
| Ugt3a1 |
A |
T |
15: 9,351,283 (GRCm39) |
E97D |
probably benign |
Het |
| Vmn2r25 |
A |
G |
6: 123,816,756 (GRCm39) |
I275T |
probably benign |
Het |
| Zfp1010 |
T |
G |
2: 176,956,889 (GRCm39) |
Q203P |
possibly damaging |
Het |
| Zfp568 |
G |
T |
7: 29,721,721 (GRCm39) |
C221F |
probably benign |
Het |
| Zfp91 |
C |
A |
19: 12,755,385 (GRCm39) |
E217* |
probably null |
Het |
| Zswim3 |
T |
A |
2: 164,662,563 (GRCm39) |
C348S |
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 |
|
|
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 |
|
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'- GATCCTGAGGCACTTCCAAG -3'
(R):5'- TTCAGGCCATTCTGAGCCAC -3'
Sequencing Primer
(F):5'- TCCAAGGGACGTGACCTCTTC -3'
(R):5'- ATTCTGAGCCACACCTGTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation