Incidental Mutation 'IGL00765:Ints4'
| ID |
11476 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ints4
|
| Ensembl Gene |
ENSMUSG00000025133 |
| Gene Name |
integrator complex subunit 4 |
| Synonyms |
2610034N24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
IGL00765
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
97130163-97190602 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 97184412 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 839
(T839I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026126]
|
| AlphaFold |
Q8CIM8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026126
AA Change: T839I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026126
Gene: ENSMUSG00000025133
AA Change: T839I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HEAT_2
|
153 |
258 |
9.8e-9 |
PFAM |
|
Pfam:Cohesin_HEAT
|
179 |
219 |
7.7e-6 |
PFAM |
|
low complexity region
|
518 |
527 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205387
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205706
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206843
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] INTS4 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
C |
T |
16: 14,229,372 (GRCm39) |
T368I |
probably damaging |
Het |
| Bub1 |
T |
A |
2: 127,671,392 (GRCm39) |
N64I |
probably damaging |
Het |
| Ccdc97 |
A |
G |
7: 25,414,277 (GRCm39) |
L159P |
probably damaging |
Het |
| Chrnd |
T |
C |
1: 87,123,431 (GRCm39) |
V214A |
probably damaging |
Het |
| Csf2rb2 |
A |
G |
15: 78,176,916 (GRCm39) |
S185P |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,322,706 (GRCm39) |
|
probably benign |
Het |
| Eif3e |
A |
T |
15: 43,141,745 (GRCm39) |
M55K |
probably benign |
Het |
| Ercc6l2 |
T |
C |
13: 63,996,586 (GRCm39) |
V365A |
possibly damaging |
Het |
| Fndc1 |
A |
G |
17: 7,991,525 (GRCm39) |
S724P |
unknown |
Het |
| Htt |
T |
C |
5: 35,034,769 (GRCm39) |
|
probably benign |
Het |
| Lrp6 |
T |
G |
6: 134,518,817 (GRCm39) |
T83P |
probably benign |
Het |
| Lrrc8d |
C |
T |
5: 105,959,818 (GRCm39) |
T76I |
possibly damaging |
Het |
| Nae1 |
T |
C |
8: 105,244,582 (GRCm39) |
|
probably benign |
Het |
| Nlrp14 |
T |
C |
7: 106,789,346 (GRCm39) |
V45A |
possibly damaging |
Het |
| Nrp2 |
C |
A |
1: 62,743,410 (GRCm39) |
S16* |
probably null |
Het |
| Nup155 |
T |
C |
15: 8,182,712 (GRCm39) |
I1225T |
probably benign |
Het |
| Pnpla7 |
G |
T |
2: 24,870,236 (GRCm39) |
A43S |
probably damaging |
Het |
| Prcp |
T |
C |
7: 92,582,307 (GRCm39) |
S431P |
probably benign |
Het |
| Rbck1 |
A |
G |
2: 152,172,874 (GRCm39) |
|
probably benign |
Het |
| Smg8 |
T |
C |
11: 86,968,867 (GRCm39) |
E963G |
probably damaging |
Het |
| Tanc1 |
A |
C |
2: 59,636,645 (GRCm39) |
M836L |
probably benign |
Het |
| Tnpo1 |
A |
G |
13: 98,986,612 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ints4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01736:Ints4
|
APN |
7 |
97,175,849 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01862:Ints4
|
APN |
7 |
97,190,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02277:Ints4
|
APN |
7 |
97,136,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02396:Ints4
|
APN |
7 |
97,187,107 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02661:Ints4
|
APN |
7 |
97,144,912 (GRCm39) |
missense |
probably benign |
|
|
IGL02750:Ints4
|
APN |
7 |
97,166,964 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03108:Ints4
|
APN |
7 |
97,140,137 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0332:Ints4
|
UTSW |
7 |
97,166,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0449:Ints4
|
UTSW |
7 |
97,178,430 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1065:Ints4
|
UTSW |
7 |
97,157,099 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1722:Ints4
|
UTSW |
7 |
97,162,786 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2060:Ints4
|
UTSW |
7 |
97,150,970 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2211:Ints4
|
UTSW |
7 |
97,158,957 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R3731:Ints4
|
UTSW |
7 |
97,155,308 (GRCm39) |
missense |
probably benign |
0.18 |
|
R3881:Ints4
|
UTSW |
7 |
97,165,464 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4089:Ints4
|
UTSW |
7 |
97,178,462 (GRCm39) |
nonsense |
probably null |
|
|
R4192:Ints4
|
UTSW |
7 |
97,156,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4479:Ints4
|
UTSW |
7 |
97,134,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4980:Ints4
|
UTSW |
7 |
97,151,057 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5029:Ints4
|
UTSW |
7 |
97,158,981 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5306:Ints4
|
UTSW |
7 |
97,158,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6160:Ints4
|
UTSW |
7 |
97,158,790 (GRCm39) |
splice site |
probably null |
|
|
R6317:Ints4
|
UTSW |
7 |
97,178,425 (GRCm39) |
nonsense |
probably null |
|
|
R6961:Ints4
|
UTSW |
7 |
97,190,397 (GRCm39) |
makesense |
probably null |
|
|
R7026:Ints4
|
UTSW |
7 |
97,168,361 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7156:Ints4
|
UTSW |
7 |
97,184,493 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7205:Ints4
|
UTSW |
7 |
97,184,433 (GRCm39) |
nonsense |
probably null |
|
|
R7234:Ints4
|
UTSW |
7 |
97,179,507 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7418:Ints4
|
UTSW |
7 |
97,140,179 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7423:Ints4
|
UTSW |
7 |
97,156,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7462:Ints4
|
UTSW |
7 |
97,155,335 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7658:Ints4
|
UTSW |
7 |
97,178,460 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7947:Ints4
|
UTSW |
7 |
97,148,792 (GRCm39) |
missense |
probably benign |
|
|
R8114:Ints4
|
UTSW |
7 |
97,165,732 (GRCm39) |
splice site |
probably null |
|
|
R8426:Ints4
|
UTSW |
7 |
97,150,239 (GRCm39) |
nonsense |
probably null |
|
|
R8765:Ints4
|
UTSW |
7 |
97,151,016 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8777:Ints4
|
UTSW |
7 |
97,134,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8777-TAIL:Ints4
|
UTSW |
7 |
97,134,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8944:Ints4
|
UTSW |
7 |
97,183,593 (GRCm39) |
missense |
probably benign |
|
|
R9001:Ints4
|
UTSW |
7 |
97,190,276 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9057:Ints4
|
UTSW |
7 |
97,158,987 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9315:Ints4
|
UTSW |
7 |
97,156,840 (GRCm39) |
intron |
probably benign |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation