Incidental Mutation 'IGL03108:Ints4'
| ID |
419091 |
| 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 # |
IGL03108
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
97130163-97190602 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
G to T
at 97140137 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026126]
|
| AlphaFold |
Q8CIM8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026126
|
| SMART Domains |
Protein: ENSMUSP00000026126
Gene: ENSMUSG00000025133
| 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: ENSMUST00000205481
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206644
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
C |
A |
13: 81,707,648 (GRCm39) |
V1253F |
probably damaging |
Het |
| Apbb2 |
A |
G |
5: 66,557,574 (GRCm39) |
W296R |
probably damaging |
Het |
| Armh3 |
G |
A |
19: 45,808,792 (GRCm39) |
T633I |
probably damaging |
Het |
| Btbd3 |
T |
C |
2: 138,126,043 (GRCm39) |
V409A |
possibly damaging |
Het |
| C130050O18Rik |
A |
T |
5: 139,400,820 (GRCm39) |
D291V |
probably damaging |
Het |
| Catsper3 |
A |
G |
13: 55,955,848 (GRCm39) |
N318D |
probably benign |
Het |
| Chd1 |
T |
A |
17: 15,945,543 (GRCm39) |
D22E |
possibly damaging |
Het |
| Chrnb2 |
G |
A |
3: 89,670,681 (GRCm39) |
|
probably benign |
Het |
| Col24a1 |
G |
A |
3: 145,029,162 (GRCm39) |
G550D |
probably damaging |
Het |
| Cryl1 |
T |
C |
14: 57,550,534 (GRCm39) |
D110G |
probably damaging |
Het |
| Deaf1 |
A |
G |
7: 140,902,874 (GRCm39) |
I150T |
probably damaging |
Het |
| Eif3a |
A |
T |
19: 60,770,747 (GRCm39) |
D33E |
possibly damaging |
Het |
| Fabp12 |
C |
A |
3: 10,315,114 (GRCm39) |
G78C |
probably benign |
Het |
| Fat1 |
A |
G |
8: 45,476,651 (GRCm39) |
D1899G |
probably damaging |
Het |
| Galnt13 |
G |
A |
2: 54,744,660 (GRCm39) |
V120I |
probably benign |
Het |
| Ganab |
G |
A |
19: 8,889,840 (GRCm39) |
A635T |
probably damaging |
Het |
| Gm17509 |
G |
A |
13: 117,357,380 (GRCm39) |
|
probably benign |
Het |
| Gstm3 |
A |
T |
3: 107,875,080 (GRCm39) |
|
probably null |
Het |
| Hfm1 |
T |
A |
5: 107,043,800 (GRCm39) |
|
probably benign |
Het |
| Hoxd13 |
A |
C |
2: 74,500,440 (GRCm39) |
D327A |
probably damaging |
Het |
| Kcna10 |
A |
T |
3: 107,102,259 (GRCm39) |
T297S |
probably benign |
Het |
| Ldb2 |
G |
A |
5: 44,699,057 (GRCm39) |
T127I |
probably damaging |
Het |
| Mapk7 |
T |
C |
11: 61,382,498 (GRCm39) |
D68G |
probably damaging |
Het |
| Msh3 |
A |
T |
13: 92,357,596 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
A |
G |
7: 141,217,402 (GRCm39) |
S2359P |
possibly damaging |
Het |
| Mup6 |
A |
T |
4: 60,005,990 (GRCm39) |
I161F |
possibly damaging |
Het |
| Nup160 |
G |
A |
2: 90,534,169 (GRCm39) |
V665I |
probably benign |
Het |
| Or13a22 |
A |
G |
7: 140,073,034 (GRCm39) |
N161S |
possibly damaging |
Het |
| Or14a258 |
T |
C |
7: 86,034,929 (GRCm39) |
Y313C |
possibly damaging |
Het |
| Or4e5 |
T |
A |
14: 52,727,533 (GRCm39) |
D296V |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,900,762 (GRCm39) |
V352I |
probably damaging |
Het |
| Oxct1 |
T |
A |
15: 4,064,764 (GRCm39) |
V34D |
probably benign |
Het |
| Pcdhb21 |
T |
A |
18: 37,648,944 (GRCm39) |
|
probably null |
Het |
| Pcdhb8 |
T |
G |
18: 37,490,299 (GRCm39) |
V659G |
probably damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,042,234 (GRCm39) |
N1590S |
probably benign |
Het |
| Rnf168 |
G |
T |
16: 32,097,099 (GRCm39) |
R56L |
possibly damaging |
Het |
| Scn8a |
C |
T |
15: 100,872,496 (GRCm39) |
P362S |
probably benign |
Het |
| Slc1a3 |
T |
A |
15: 8,668,562 (GRCm39) |
I468F |
probably damaging |
Het |
| Slc39a14 |
G |
A |
14: 70,556,368 (GRCm39) |
R3W |
probably damaging |
Het |
| Slc7a6 |
T |
A |
8: 106,921,149 (GRCm39) |
N373K |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,080,087 (GRCm39) |
S1955P |
possibly damaging |
Het |
| Stat5a |
T |
A |
11: 100,753,965 (GRCm39) |
Y98* |
probably null |
Het |
| Thsd7b |
G |
T |
1: 130,138,013 (GRCm39) |
G1564C |
probably damaging |
Het |
| Zc3h13 |
T |
C |
14: 75,569,206 (GRCm39) |
V1351A |
possibly damaging |
Het |
|
| Other mutations in Ints4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00765:Ints4
|
APN |
7 |
97,184,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation