Incidental Mutation 'IGL02684:Ints7'
| ID |
303493 |
| 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 # |
IGL02684
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
191307748-191355800 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to G
at 191345749 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045450]
[ENSMUST00000045450]
[ENSMUST00000045450]
[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 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 |
noncoding transcript
Transcript: ENSMUST00000193961
|
| 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 |
|---|
| 4930596D02Rik |
A |
T |
14: 35,532,020 (GRCm39) |
L185* |
probably null |
Het |
| Aadacl4fm5 |
A |
G |
4: 144,504,755 (GRCm39) |
|
probably benign |
Het |
| Actrt3 |
A |
T |
3: 30,653,840 (GRCm39) |
D53E |
probably benign |
Het |
| Ankrd34b |
T |
C |
13: 92,575,016 (GRCm39) |
S83P |
probably damaging |
Het |
| Asap1 |
A |
G |
15: 63,966,018 (GRCm39) |
V1029A |
probably benign |
Het |
| Blk |
T |
C |
14: 63,617,143 (GRCm39) |
E288G |
probably benign |
Het |
| Cep192 |
T |
G |
18: 67,967,634 (GRCm39) |
V706G |
probably damaging |
Het |
| Chd2 |
T |
C |
7: 73,125,097 (GRCm39) |
K908E |
probably damaging |
Het |
| Dnm1l |
A |
T |
16: 16,139,521 (GRCm39) |
I391N |
possibly damaging |
Het |
| Fmn1 |
A |
G |
2: 113,355,622 (GRCm39) |
R688G |
unknown |
Het |
| Gdap2 |
A |
G |
3: 100,078,336 (GRCm39) |
D100G |
probably benign |
Het |
| Gm43638 |
T |
C |
5: 87,610,769 (GRCm39) |
I522V |
possibly damaging |
Het |
| Gsap |
A |
T |
5: 21,447,801 (GRCm39) |
|
probably null |
Het |
| Hoxd12 |
A |
G |
2: 74,505,905 (GRCm39) |
S159G |
probably benign |
Het |
| Iqsec3 |
G |
A |
6: 121,389,900 (GRCm39) |
Q524* |
probably null |
Het |
| Klra10 |
T |
A |
6: 130,258,845 (GRCm39) |
H14L |
possibly damaging |
Het |
| Lratd1 |
T |
C |
12: 14,200,646 (GRCm39) |
D27G |
probably damaging |
Het |
| Mettl15 |
T |
C |
2: 108,961,925 (GRCm39) |
E228G |
probably damaging |
Het |
| Or51v8 |
T |
C |
7: 103,319,591 (GRCm39) |
M216V |
probably benign |
Het |
| Or9s18 |
G |
A |
13: 65,300,210 (GRCm39) |
M57I |
probably damaging |
Het |
| Pabpc1l |
A |
G |
2: 163,873,197 (GRCm39) |
N156D |
probably benign |
Het |
| Pkhd1l1 |
G |
T |
15: 44,379,605 (GRCm39) |
|
probably null |
Het |
| Pm20d1 |
T |
A |
1: 131,732,697 (GRCm39) |
N345K |
probably benign |
Het |
| Rasgrp1 |
A |
G |
2: 117,113,057 (GRCm39) |
V785A |
probably benign |
Het |
| Sos2 |
A |
G |
12: 69,643,440 (GRCm39) |
L980S |
probably damaging |
Het |
| Stam2 |
A |
T |
2: 52,609,947 (GRCm39) |
H56Q |
probably damaging |
Het |
| Trpm6 |
T |
A |
19: 18,779,571 (GRCm39) |
|
probably benign |
Het |
| Trpm7 |
A |
T |
2: 126,688,079 (GRCm39) |
D249E |
probably damaging |
Het |
| Vmn1r203 |
A |
T |
13: 22,708,539 (GRCm39) |
T107S |
possibly damaging |
Het |
| Vmn2r55 |
A |
G |
7: 12,404,887 (GRCm39) |
L172P |
probably damaging |
Het |
| Vrtn |
A |
G |
12: 84,696,923 (GRCm39) |
R558G |
probably benign |
Het |
| Zfp977 |
A |
T |
7: 42,232,439 (GRCm39) |
D7E |
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 |
|
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 |
|
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