Incidental Mutation 'IGL00904:Ints7'
| ID |
26607 |
| 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: 0.952)
|
| Stock # |
IGL00904
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
191307748-191355800 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 191328276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045450]
[ENSMUST00000045450]
[ENSMUST00000193569]
[ENSMUST00000194785]
[ENSMUST00000194877]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000045450
|
| SMART Domains |
Protein: ENSMUSP00000036277
Gene: ENSMUSG00000037461
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
76 |
530 |
1e-10 |
SMART |
|
low complexity region
|
937 |
960 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000045450
|
| SMART Domains |
Protein: ENSMUSP00000036277
Gene: ENSMUSG00000037461
| 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: ENSMUST00000193569
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193961
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194205
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
G |
T |
6: 86,923,135 (GRCm39) |
G236C |
probably damaging |
Het |
| Abi1 |
C |
T |
2: 22,831,942 (GRCm39) |
R404Q |
possibly damaging |
Het |
| Atp8b3 |
C |
T |
10: 80,364,598 (GRCm39) |
G532R |
probably damaging |
Het |
| Bysl |
C |
T |
17: 47,912,796 (GRCm39) |
M331I |
probably benign |
Het |
| Ccdc121rt3 |
G |
A |
5: 112,502,994 (GRCm39) |
R237* |
probably null |
Het |
| Cndp1 |
A |
G |
18: 84,629,790 (GRCm39) |
S468P |
probably benign |
Het |
| Esd |
A |
G |
14: 74,987,128 (GRCm39) |
*266W |
probably null |
Het |
| F5 |
T |
C |
1: 164,021,578 (GRCm39) |
V1351A |
probably benign |
Het |
| Fchsd2 |
A |
G |
7: 100,920,829 (GRCm39) |
D454G |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 7,975,195 (GRCm39) |
M1415L |
probably benign |
Het |
| Ghr |
T |
A |
15: 3,357,602 (GRCm39) |
Y222F |
probably benign |
Het |
| Gtf3c2 |
C |
T |
5: 31,330,202 (GRCm39) |
S299N |
probably damaging |
Het |
| Ice1 |
C |
T |
13: 70,750,408 (GRCm39) |
D93N |
probably damaging |
Het |
| Kif18a |
A |
G |
2: 109,122,471 (GRCm39) |
D182G |
probably damaging |
Het |
| Mcm9 |
A |
T |
10: 53,499,017 (GRCm39) |
H308Q |
possibly damaging |
Het |
| Mesp2 |
A |
G |
7: 79,462,401 (GRCm39) |
D319G |
probably benign |
Het |
| Mrpl55 |
T |
A |
11: 59,096,499 (GRCm39) |
S84T |
probably benign |
Het |
| Mybpc3 |
T |
C |
2: 90,950,374 (GRCm39) |
V123A |
probably benign |
Het |
| Myom1 |
T |
C |
17: 71,406,944 (GRCm39) |
|
probably benign |
Het |
| Nfia |
C |
T |
4: 97,953,623 (GRCm39) |
P325S |
probably damaging |
Het |
| Notch4 |
T |
C |
17: 34,794,535 (GRCm39) |
|
probably null |
Het |
| Npepps |
A |
C |
11: 97,149,132 (GRCm39) |
V130G |
probably damaging |
Het |
| Or7c70 |
A |
T |
10: 78,683,597 (GRCm39) |
S51T |
probably damaging |
Het |
| Pja2 |
G |
T |
17: 64,590,526 (GRCm39) |
T669K |
probably damaging |
Het |
| Rnf112 |
G |
T |
11: 61,343,610 (GRCm39) |
D98E |
probably damaging |
Het |
| Rsl1d1 |
G |
A |
16: 11,017,558 (GRCm39) |
T136I |
probably damaging |
Het |
| Samsn1 |
A |
T |
16: 75,706,008 (GRCm39) |
|
probably benign |
Het |
| Slc6a9 |
T |
C |
4: 117,721,814 (GRCm39) |
L280P |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,097,398 (GRCm39) |
N1382D |
probably benign |
Het |
| Vmn2r100 |
T |
G |
17: 19,746,262 (GRCm39) |
C474G |
probably damaging |
Het |
| Vmn2r74 |
C |
T |
7: 85,606,788 (GRCm39) |
R186H |
probably benign |
Het |
| Wdr7 |
T |
C |
18: 63,929,302 (GRCm39) |
I1046T |
probably benign |
Het |
|
| Other mutations in Ints7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01285:Ints7
|
APN |
1 |
191,347,890 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01289: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 |
2013-04-17 |
Incidental Mutation