Incidental Mutation 'IGL02523:Ints13'
ID |
296933 |
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 # |
IGL02523
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
146451130-146479333 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 146459109 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 301
(S301P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032427
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032427]
[ENSMUST00000203545]
|
AlphaFold |
Q8QZV7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032427
AA Change: S301P
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000032427 Gene: ENSMUSG00000040250 AA Change: S301P
Domain | Start | End | E-Value | Type |
Pfam:DUF2151
|
4 |
692 |
8.2e-292 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000131662
AA Change: S248P
|
SMART Domains |
Protein: ENSMUSP00000118000 Gene: ENSMUSG00000040250 AA Change: S248P
Domain | Start | End | E-Value | Type |
Pfam:DUF2151
|
1 |
394 |
7.2e-171 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132963
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135277
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139546
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139979
|
SMART Domains |
Protein: ENSMUSP00000122279 Gene: ENSMUSG00000040250
Domain | Start | End | E-Value | Type |
Pfam:DUF2151
|
2 |
216 |
1.6e-61 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203545
|
SMART Domains |
Protein: ENSMUSP00000145229 Gene: ENSMUSG00000040250
Domain | Start | End | E-Value | Type |
Pfam:DUF2151
|
1 |
96 |
3.8e-48 |
PFAM |
Pfam:DUF2151
|
94 |
313 |
6e-59 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asah1 |
T |
C |
8: 41,804,984 (GRCm39) |
D109G |
probably benign |
Het |
Ces2c |
C |
A |
8: 105,574,746 (GRCm39) |
P68T |
probably damaging |
Het |
Csl |
G |
A |
10: 99,594,675 (GRCm39) |
T130I |
probably benign |
Het |
Cyp2g1 |
C |
T |
7: 26,518,612 (GRCm39) |
R376W |
probably damaging |
Het |
Ddb1 |
T |
C |
19: 10,604,996 (GRCm39) |
L1029P |
probably damaging |
Het |
Dennd4c |
T |
C |
4: 86,692,490 (GRCm39) |
|
probably benign |
Het |
Eya2 |
C |
T |
2: 165,596,356 (GRCm39) |
|
probably benign |
Het |
Fars2 |
G |
T |
13: 36,388,676 (GRCm39) |
G55V |
probably damaging |
Het |
Fcgbp |
C |
A |
7: 27,804,157 (GRCm39) |
A1755E |
possibly damaging |
Het |
Ggt7 |
T |
A |
2: 155,356,623 (GRCm39) |
E32V |
probably damaging |
Het |
Heg1 |
C |
A |
16: 33,558,992 (GRCm39) |
T1071K |
probably damaging |
Het |
Hpca |
A |
G |
4: 129,012,368 (GRCm39) |
F56S |
probably damaging |
Het |
Hyal4 |
T |
A |
6: 24,765,968 (GRCm39) |
Y441N |
probably damaging |
Het |
Igsf8 |
T |
A |
1: 172,146,980 (GRCm39) |
|
probably benign |
Het |
Krt33a |
G |
A |
11: 99,902,518 (GRCm39) |
T374I |
probably benign |
Het |
Nav3 |
T |
C |
10: 109,605,157 (GRCm39) |
D972G |
probably damaging |
Het |
Npc1 |
T |
C |
18: 12,334,629 (GRCm39) |
T708A |
probably benign |
Het |
Or10ag52 |
A |
T |
2: 87,043,664 (GRCm39) |
N143Y |
probably benign |
Het |
Or13p10 |
A |
T |
4: 118,523,238 (GRCm39) |
N175Y |
probably benign |
Het |
Or1l8 |
T |
C |
2: 36,817,967 (GRCm39) |
D53G |
probably damaging |
Het |
Or6d14 |
A |
T |
6: 116,534,054 (GRCm39) |
I223L |
probably benign |
Het |
P2rx2 |
A |
G |
5: 110,489,908 (GRCm39) |
S87P |
probably damaging |
Het |
Pdxdc1 |
A |
T |
16: 13,699,799 (GRCm39) |
L62H |
probably damaging |
Het |
Plekhj1 |
A |
T |
10: 80,633,683 (GRCm39) |
|
probably null |
Het |
Ptbp2 |
A |
T |
3: 119,534,136 (GRCm39) |
Y244* |
probably null |
Het |
Ralbp1 |
T |
C |
17: 66,166,086 (GRCm39) |
E366G |
probably damaging |
Het |
Rergl |
T |
A |
6: 139,473,458 (GRCm39) |
|
probably benign |
Het |
Slc25a45 |
T |
A |
19: 5,934,637 (GRCm39) |
|
probably null |
Het |
Spop |
G |
A |
11: 95,376,747 (GRCm39) |
D267N |
possibly damaging |
Het |
Tars2 |
T |
C |
3: 95,648,705 (GRCm39) |
D625G |
probably damaging |
Het |
Tlk2 |
A |
G |
11: 105,166,773 (GRCm39) |
K593R |
probably damaging |
Het |
Tlr3 |
T |
A |
8: 45,851,428 (GRCm39) |
|
probably null |
Het |
Tmem205 |
C |
T |
9: 21,832,584 (GRCm39) |
R109H |
probably benign |
Het |
Tmem41b |
A |
G |
7: 109,581,935 (GRCm39) |
I56T |
probably damaging |
Het |
Ube2q2 |
T |
C |
9: 55,099,163 (GRCm39) |
V168A |
probably damaging |
Het |
Ufsp2 |
T |
A |
8: 46,436,585 (GRCm39) |
M112K |
probably damaging |
Het |
Wipi2 |
T |
A |
5: 142,646,787 (GRCm39) |
V208E |
probably damaging |
Het |
Xkr9 |
A |
G |
1: 13,754,474 (GRCm39) |
E156G |
probably benign |
Het |
|
Other mutations in Ints13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00566:Ints13
|
APN |
6 |
146,467,174 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
2015-04-16 |