Incidental Mutation 'IGL02085:Ints13'
| ID |
283524 |
| 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 # |
IGL02085
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
146451130-146479333 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
T to C
at 146451437 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145229
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032427]
[ENSMUST00000203545]
|
| AlphaFold |
Q8QZV7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032427
|
| SMART Domains |
Protein: ENSMUSP00000032427
Gene: ENSMUSG00000040250
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2151
|
4 |
692 |
8.2e-292 |
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 |
noncoding transcript
Transcript: ENSMUST00000152994
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204234
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
A |
G |
9: 44,192,854 (GRCm39) |
|
probably null |
Het |
| Akr1c14 |
T |
A |
13: 4,128,035 (GRCm39) |
C145* |
probably null |
Het |
| Arhgef26 |
A |
G |
3: 62,367,145 (GRCm39) |
|
probably benign |
Het |
| Asb9 |
A |
G |
X: 163,318,452 (GRCm39) |
M215V |
probably benign |
Het |
| Atoh8 |
C |
A |
6: 72,212,157 (GRCm39) |
|
probably benign |
Het |
| Atp6v1b1 |
T |
A |
6: 83,730,897 (GRCm39) |
|
probably benign |
Het |
| Cep97 |
T |
C |
16: 55,735,868 (GRCm39) |
E310G |
probably damaging |
Het |
| Ctrc |
C |
T |
4: 141,571,025 (GRCm39) |
D72N |
possibly damaging |
Het |
| Dnah2 |
A |
G |
11: 69,349,011 (GRCm39) |
I2492T |
probably benign |
Het |
| Emilin2 |
A |
G |
17: 71,582,144 (GRCm39) |
V194A |
probably damaging |
Het |
| Epb41l5 |
T |
C |
1: 119,500,586 (GRCm39) |
T524A |
probably benign |
Het |
| Fam91a1 |
A |
G |
15: 58,313,505 (GRCm39) |
N497S |
possibly damaging |
Het |
| Gabpb1 |
A |
T |
2: 126,481,191 (GRCm39) |
C319* |
probably null |
Het |
| Galnt10 |
A |
G |
11: 57,673,104 (GRCm39) |
T487A |
probably benign |
Het |
| Hecw2 |
T |
A |
1: 53,981,961 (GRCm39) |
|
probably null |
Het |
| Hmg20a |
C |
T |
9: 56,384,586 (GRCm39) |
Q119* |
probably null |
Het |
| Ifi44l |
A |
G |
3: 151,468,477 (GRCm39) |
S18P |
unknown |
Het |
| Immt |
T |
A |
6: 71,828,820 (GRCm39) |
V125E |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,779,321 (GRCm39) |
G2574S |
probably benign |
Het |
| Myoc |
T |
C |
1: 162,467,343 (GRCm39) |
C171R |
probably benign |
Het |
| Ncbp1 |
C |
T |
4: 46,159,699 (GRCm39) |
T404M |
probably damaging |
Het |
| Npy6r |
A |
G |
18: 44,408,998 (GRCm39) |
N140D |
probably damaging |
Het |
| Nrxn2 |
A |
T |
19: 6,542,898 (GRCm39) |
M1041L |
possibly damaging |
Het |
| Nsmaf |
G |
A |
4: 6,398,551 (GRCm39) |
P851L |
probably benign |
Het |
| Nutm2 |
T |
A |
13: 50,627,829 (GRCm39) |
|
probably null |
Het |
| Or10ak8 |
A |
G |
4: 118,773,947 (GRCm39) |
F239S |
probably damaging |
Het |
| Or2g25 |
A |
G |
17: 37,970,579 (GRCm39) |
V215A |
probably benign |
Het |
| Or4f61 |
A |
C |
2: 111,922,869 (GRCm39) |
M59R |
probably damaging |
Het |
| Padi2 |
T |
G |
4: 140,654,468 (GRCm39) |
Y206* |
probably null |
Het |
| Pcdh19 |
A |
T |
X: 132,582,007 (GRCm39) |
Y766* |
probably null |
Het |
| Pde12 |
A |
G |
14: 26,387,619 (GRCm39) |
|
probably benign |
Het |
| Ppl |
C |
T |
16: 4,907,680 (GRCm39) |
G872R |
probably benign |
Het |
| Prkag3 |
C |
T |
1: 74,787,971 (GRCm39) |
|
probably benign |
Het |
| Ptgfr |
T |
C |
3: 151,541,437 (GRCm39) |
T24A |
probably benign |
Het |
| Rpe65 |
T |
C |
3: 159,321,283 (GRCm39) |
V365A |
probably benign |
Het |
| Shank3 |
T |
C |
15: 89,388,118 (GRCm39) |
|
probably null |
Het |
| Slco1a6 |
T |
C |
6: 142,032,200 (GRCm39) |
T642A |
probably benign |
Het |
| Slco6d1 |
C |
A |
1: 98,371,468 (GRCm39) |
P275T |
probably damaging |
Het |
| Smarca1 |
G |
T |
X: 46,964,109 (GRCm39) |
Q343K |
probably damaging |
Het |
| Smoc2 |
A |
G |
17: 14,567,495 (GRCm39) |
T180A |
possibly damaging |
Het |
| Tfrc |
G |
A |
16: 32,440,004 (GRCm39) |
V406I |
probably benign |
Het |
| Tigit |
C |
T |
16: 43,469,473 (GRCm39) |
G206D |
probably benign |
Het |
| Triobp |
G |
A |
15: 78,858,497 (GRCm39) |
|
probably benign |
Het |
| Trmo |
T |
C |
4: 46,380,217 (GRCm39) |
Y384C |
probably damaging |
Het |
| Vmn1r89 |
T |
A |
7: 12,953,465 (GRCm39) |
I67N |
probably damaging |
Het |
| Wdr17 |
C |
A |
8: 55,140,771 (GRCm39) |
E194* |
probably null |
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 |
|
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 |
2015-04-16 |
Incidental Mutation