Incidental Mutation 'IGL01289:Ints7'
| ID |
278251 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ints7
|
| Ensembl Gene |
ENSMUSG00000037461 |
| Gene Name |
integrator complex subunit 7 |
| Synonyms |
5930412E23Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
IGL01289
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
191307748-191355800 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 191347890 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 754
(R754H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045450]
[ENSMUST00000194785]
[ENSMUST00000194877]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045450
AA Change: R754H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000036277
Gene: ENSMUSG00000037461
AA Change: R754H
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
76 |
530 |
1e-10 |
SMART |
|
low complexity region
|
937 |
960 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194785
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194877
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the integrator complex. The integrator complex associates with the C-terminal domain of RNA polymerase II and mediates 3'-end processing of the small nuclear RNAs U1 and U2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
T |
A |
7: 130,740,350 (GRCm39) |
M289L |
probably benign |
Het |
| Actg2 |
A |
T |
6: 83,500,157 (GRCm39) |
M38K |
probably damaging |
Het |
| Atp8a2 |
G |
A |
14: 59,928,910 (GRCm39) |
A1048V |
probably benign |
Het |
| Cables1 |
T |
C |
18: 12,077,621 (GRCm39) |
V583A |
probably damaging |
Het |
| Ccng2 |
A |
G |
5: 93,421,276 (GRCm39) |
K262R |
probably null |
Het |
| Cfap206 |
C |
A |
4: 34,716,469 (GRCm39) |
S332I |
probably null |
Het |
| Dscam |
A |
T |
16: 96,445,082 (GRCm39) |
Y1536* |
probably null |
Het |
| Fam136b-ps |
T |
A |
15: 31,277,010 (GRCm39) |
|
probably benign |
Het |
| Fga |
A |
G |
3: 82,938,552 (GRCm39) |
Y309C |
possibly damaging |
Het |
| Fgd4 |
A |
T |
16: 16,302,167 (GRCm39) |
N129K |
probably damaging |
Het |
| Gbp8 |
G |
A |
5: 105,165,735 (GRCm39) |
A306V |
probably benign |
Het |
| Hecw1 |
T |
C |
13: 14,438,719 (GRCm39) |
Y888C |
probably damaging |
Het |
| Herc6 |
G |
A |
6: 57,575,608 (GRCm39) |
G210R |
probably damaging |
Het |
| Itga1 |
T |
C |
13: 115,122,762 (GRCm39) |
I731M |
possibly damaging |
Het |
| Itpr2 |
T |
A |
6: 146,014,033 (GRCm39) |
K2588* |
probably null |
Het |
| Itpr3 |
T |
A |
17: 27,318,739 (GRCm39) |
M965K |
probably damaging |
Het |
| Kif22 |
A |
G |
7: 126,632,645 (GRCm39) |
V247A |
probably damaging |
Het |
| Lrrc17 |
T |
C |
5: 21,765,899 (GRCm39) |
F127S |
probably damaging |
Het |
| Lrriq4 |
T |
A |
3: 30,704,542 (GRCm39) |
L190Q |
probably damaging |
Het |
| Mcee |
T |
A |
7: 64,050,066 (GRCm39) |
F66I |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,778,019 (GRCm39) |
F789S |
probably damaging |
Het |
| Nmd3 |
T |
G |
3: 69,631,620 (GRCm39) |
S25R |
possibly damaging |
Het |
| Npy5r |
T |
A |
8: 67,134,518 (GRCm39) |
N92Y |
possibly damaging |
Het |
| Or4a69 |
A |
G |
2: 89,313,191 (GRCm39) |
M96T |
probably benign |
Het |
| Rnf224 |
G |
T |
2: 25,126,259 (GRCm39) |
D31E |
possibly damaging |
Het |
| Timd2 |
T |
C |
11: 46,570,499 (GRCm39) |
E192G |
probably benign |
Het |
| Ttll13 |
T |
A |
7: 79,910,187 (GRCm39) |
C777S |
probably benign |
Het |
| Tubgcp3 |
A |
G |
8: 12,689,625 (GRCm39) |
L547P |
probably damaging |
Het |
| Usp47 |
G |
T |
7: 111,662,565 (GRCm39) |
V236F |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,343,525 (GRCm39) |
N1922I |
probably damaging |
Het |
| Zdhhc24 |
G |
T |
19: 4,928,850 (GRCm39) |
W25L |
probably damaging |
Het |
|
| Other mutations in Ints7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00904:Ints7
|
APN |
1 |
191,328,276 (GRCm39) |
splice site |
probably null |
|
|
IGL01285:Ints7
|
APN |
1 |
191,347,890 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01572:Ints7
|
APN |
1 |
191,347,905 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01665:Ints7
|
APN |
1 |
191,345,331 (GRCm39) |
splice site |
probably benign |
|
|
IGL02059:Ints7
|
APN |
1 |
191,347,872 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02684:Ints7
|
APN |
1 |
191,345,749 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02686:Ints7
|
APN |
1 |
191,318,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02812:Ints7
|
APN |
1 |
191,351,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03119:Ints7
|
APN |
1 |
191,342,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03162:Ints7
|
APN |
1 |
191,353,524 (GRCm39) |
utr 3 prime |
probably benign |
|
|
PIT4810001:Ints7
|
UTSW |
1 |
191,328,348 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0294:Ints7
|
UTSW |
1 |
191,344,003 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0479:Ints7
|
UTSW |
1 |
191,346,666 (GRCm39) |
splice site |
probably null |
|
|
R0698:Ints7
|
UTSW |
1 |
191,326,576 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1420:Ints7
|
UTSW |
1 |
191,345,169 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1680:Ints7
|
UTSW |
1 |
191,353,274 (GRCm39) |
splice site |
probably null |
|
|
R1781:Ints7
|
UTSW |
1 |
191,328,396 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2141:Ints7
|
UTSW |
1 |
191,336,972 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2291:Ints7
|
UTSW |
1 |
191,338,315 (GRCm39) |
splice site |
probably null |
|
|
R4718:Ints7
|
UTSW |
1 |
191,315,389 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4741:Ints7
|
UTSW |
1 |
191,351,747 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4797:Ints7
|
UTSW |
1 |
191,329,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4812:Ints7
|
UTSW |
1 |
191,326,542 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4826:Ints7
|
UTSW |
1 |
191,344,018 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4870:Ints7
|
UTSW |
1 |
191,328,443 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5169:Ints7
|
UTSW |
1 |
191,345,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5281:Ints7
|
UTSW |
1 |
191,347,883 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5694:Ints7
|
UTSW |
1 |
191,318,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5752:Ints7
|
UTSW |
1 |
191,308,005 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6048:Ints7
|
UTSW |
1 |
191,353,524 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6341:Ints7
|
UTSW |
1 |
191,345,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6419:Ints7
|
UTSW |
1 |
191,334,414 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7037:Ints7
|
UTSW |
1 |
191,351,717 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7163:Ints7
|
UTSW |
1 |
191,349,949 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7603:Ints7
|
UTSW |
1 |
191,328,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7801:Ints7
|
UTSW |
1 |
191,347,859 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7899:Ints7
|
UTSW |
1 |
191,353,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8034:Ints7
|
UTSW |
1 |
191,345,183 (GRCm39) |
frame shift |
probably null |
|
|
R8034:Ints7
|
UTSW |
1 |
191,345,180 (GRCm39) |
frame shift |
probably null |
|
|
R8231:Ints7
|
UTSW |
1 |
191,328,465 (GRCm39) |
nonsense |
probably null |
|
|
R8251:Ints7
|
UTSW |
1 |
191,353,545 (GRCm39) |
missense |
unknown |
|
|
R8520:Ints7
|
UTSW |
1 |
191,314,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8966:Ints7
|
UTSW |
1 |
191,351,717 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9198:Ints7
|
UTSW |
1 |
191,351,872 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9382:Ints7
|
UTSW |
1 |
191,351,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ints7
|
UTSW |
1 |
191,342,570 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Posted On |
2015-04-16 |
Incidental Mutation