Incidental Mutation 'IGL00566:Ints13'
ID |
332633 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ints13
|
Ensembl Gene |
ENSMUSG00000040250 |
Gene Name |
integrator complex subunit 13 |
Synonyms |
4933424B01Rik, Asun, Spata30 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
IGL00566
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
146451130-146479333 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 146467174 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 179
(V179D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032427
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032427]
|
AlphaFold |
Q8QZV7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032427
AA Change: V179D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000032427 Gene: ENSMUSG00000040250 AA Change: V179D
Domain | Start | End | E-Value | Type |
Pfam:DUF2151
|
4 |
692 |
8.2e-292 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126996
|
Predicted Effect |
unknown
Transcript: ENSMUST00000131662
AA Change: V118D
|
SMART Domains |
Protein: ENSMUSP00000118000 Gene: ENSMUSG00000040250 AA Change: V118D
Domain | Start | End | E-Value | Type |
Pfam:DUF2151
|
1 |
394 |
7.2e-171 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
A |
G |
7: 41,274,815 (GRCm39) |
T173A |
possibly damaging |
Het |
Acaa2 |
G |
A |
18: 74,926,449 (GRCm39) |
G135E |
probably damaging |
Het |
Actr2 |
C |
A |
11: 20,022,487 (GRCm39) |
R328L |
possibly damaging |
Het |
Adam1b |
T |
C |
5: 121,639,056 (GRCm39) |
D663G |
probably damaging |
Het |
Adcy10 |
A |
T |
1: 165,379,483 (GRCm39) |
E915V |
probably benign |
Het |
Antxr2 |
G |
A |
5: 98,034,466 (GRCm39) |
|
probably benign |
Het |
Ckap5 |
T |
A |
2: 91,398,972 (GRCm39) |
|
probably benign |
Het |
Clec4g |
T |
C |
8: 3,766,410 (GRCm39) |
|
probably benign |
Het |
Cramp1 |
A |
G |
17: 25,202,925 (GRCm39) |
V368A |
probably benign |
Het |
Diaph3 |
C |
T |
14: 87,240,307 (GRCm39) |
R248K |
probably benign |
Het |
Fut10 |
T |
C |
8: 31,725,712 (GRCm39) |
Y156H |
probably damaging |
Het |
Ice2 |
T |
C |
9: 69,323,395 (GRCm39) |
V630A |
probably benign |
Het |
Kcnj2 |
A |
C |
11: 110,962,653 (GRCm39) |
E15A |
probably damaging |
Het |
Kifbp |
G |
T |
10: 62,395,118 (GRCm39) |
S508* |
probably null |
Het |
Lpcat2b |
T |
A |
5: 107,581,670 (GRCm39) |
L333Q |
probably damaging |
Het |
Lrguk |
A |
C |
6: 34,033,109 (GRCm39) |
L258F |
probably damaging |
Het |
M6pr |
A |
T |
6: 122,290,337 (GRCm39) |
K100M |
probably damaging |
Het |
Nop14 |
T |
C |
5: 34,798,657 (GRCm39) |
|
probably benign |
Het |
Pcdh20 |
A |
G |
14: 88,705,317 (GRCm39) |
V661A |
possibly damaging |
Het |
Vcan |
A |
T |
13: 89,837,098 (GRCm39) |
H2815Q |
probably benign |
Het |
|
Other mutations in Ints13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02085:Ints13
|
APN |
6 |
146,451,437 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL02439:Ints13
|
APN |
6 |
146,455,721 (GRCm39) |
splice site |
probably benign |
|
IGL02512:Ints13
|
APN |
6 |
146,477,855 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02523:Ints13
|
APN |
6 |
146,459,109 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02988:Ints13
|
APN |
6 |
146,457,646 (GRCm39) |
missense |
possibly damaging |
0.49 |
R0083:Ints13
|
UTSW |
6 |
146,452,162 (GRCm39) |
missense |
probably benign |
0.06 |
R0085:Ints13
|
UTSW |
6 |
146,476,285 (GRCm39) |
splice site |
probably benign |
|
R0184:Ints13
|
UTSW |
6 |
146,456,542 (GRCm39) |
missense |
probably benign |
0.26 |
R0656:Ints13
|
UTSW |
6 |
146,453,959 (GRCm39) |
missense |
probably benign |
0.19 |
R1808:Ints13
|
UTSW |
6 |
146,455,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R1838:Ints13
|
UTSW |
6 |
146,468,109 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1906:Ints13
|
UTSW |
6 |
146,453,868 (GRCm39) |
critical splice donor site |
probably null |
|
R2140:Ints13
|
UTSW |
6 |
146,477,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R3082:Ints13
|
UTSW |
6 |
146,476,205 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5568:Ints13
|
UTSW |
6 |
146,477,855 (GRCm39) |
missense |
probably damaging |
1.00 |
R5757:Ints13
|
UTSW |
6 |
146,451,604 (GRCm39) |
missense |
probably benign |
0.01 |
R5770:Ints13
|
UTSW |
6 |
146,456,571 (GRCm39) |
missense |
probably damaging |
0.98 |
R5809:Ints13
|
UTSW |
6 |
146,477,847 (GRCm39) |
missense |
probably benign |
0.06 |
R6273:Ints13
|
UTSW |
6 |
146,467,179 (GRCm39) |
missense |
probably damaging |
1.00 |
R6882:Ints13
|
UTSW |
6 |
146,464,939 (GRCm39) |
missense |
probably null |
0.18 |
R6908:Ints13
|
UTSW |
6 |
146,456,531 (GRCm39) |
missense |
probably damaging |
0.99 |
R7089:Ints13
|
UTSW |
6 |
146,476,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R7425:Ints13
|
UTSW |
6 |
146,476,198 (GRCm39) |
critical splice donor site |
probably null |
|
R7660:Ints13
|
UTSW |
6 |
146,458,836 (GRCm39) |
missense |
probably benign |
0.24 |
R7957:Ints13
|
UTSW |
6 |
146,452,264 (GRCm39) |
missense |
probably damaging |
0.99 |
R8529:Ints13
|
UTSW |
6 |
146,464,926 (GRCm39) |
missense |
probably damaging |
0.98 |
R8847:Ints13
|
UTSW |
6 |
146,457,631 (GRCm39) |
missense |
probably benign |
0.01 |
R9368:Ints13
|
UTSW |
6 |
146,467,129 (GRCm39) |
missense |
probably null |
0.99 |
R9703:Ints13
|
UTSW |
6 |
146,459,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R9777:Ints13
|
UTSW |
6 |
146,463,326 (GRCm39) |
missense |
probably damaging |
0.99 |
RF011:Ints13
|
UTSW |
6 |
146,457,738 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2015-08-05 |