Incidental Mutation 'IGL03162:Ints7'
ID |
411480 |
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 # |
IGL03162
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
191307748-191355800 bp(+) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
A to G
at 191353524 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141741
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045450]
[ENSMUST00000194785]
[ENSMUST00000194877]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000045450
AA Change: Q950R
|
SMART Domains |
Protein: ENSMUSP00000036277 Gene: ENSMUSG00000037461 AA Change: Q950R
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
|
Meta Mutation Damage Score |
0.0751 |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1bg |
T |
A |
15: 60,791,581 (GRCm39) |
D92V |
probably damaging |
Het |
Acsl3 |
T |
C |
1: 78,676,887 (GRCm39) |
|
probably null |
Het |
Adam5 |
T |
C |
8: 25,271,620 (GRCm39) |
T596A |
probably benign |
Het |
Adh6a |
T |
A |
3: 138,034,880 (GRCm39) |
Y336* |
probably null |
Het |
Ak3 |
A |
T |
19: 29,000,236 (GRCm39) |
V225D |
possibly damaging |
Het |
Aldh1a7 |
T |
A |
19: 20,685,645 (GRCm39) |
I302F |
probably benign |
Het |
Amdhd1 |
T |
C |
10: 93,367,337 (GRCm39) |
|
probably null |
Het |
Arhgef18 |
G |
A |
8: 3,491,301 (GRCm39) |
|
probably null |
Het |
Caap1 |
A |
T |
4: 94,389,261 (GRCm39) |
|
probably benign |
Het |
Cdhr4 |
G |
A |
9: 107,875,210 (GRCm39) |
G70D |
probably damaging |
Het |
Celsr3 |
T |
C |
9: 108,719,757 (GRCm39) |
F2445S |
probably damaging |
Het |
Cenpc1 |
A |
G |
5: 86,185,764 (GRCm39) |
V249A |
possibly damaging |
Het |
Clca3a2 |
C |
A |
3: 144,512,177 (GRCm39) |
V80F |
probably damaging |
Het |
Col6a1 |
T |
A |
10: 76,553,885 (GRCm39) |
|
probably benign |
Het |
Commd10 |
T |
A |
18: 47,220,117 (GRCm39) |
L198Q |
probably damaging |
Het |
Cyp2d40 |
A |
G |
15: 82,644,243 (GRCm39) |
L294P |
unknown |
Het |
E2f6 |
T |
A |
12: 16,868,909 (GRCm39) |
D77E |
probably benign |
Het |
Elf5 |
T |
A |
2: 103,260,751 (GRCm39) |
H38Q |
possibly damaging |
Het |
Entrep1 |
T |
G |
19: 23,965,824 (GRCm39) |
H225P |
probably damaging |
Het |
Fcrl6 |
A |
G |
1: 172,425,820 (GRCm39) |
V227A |
probably damaging |
Het |
Fhip2b |
G |
T |
14: 70,824,994 (GRCm39) |
D447E |
probably damaging |
Het |
Gabarapl2 |
T |
A |
8: 112,669,168 (GRCm39) |
V42D |
probably benign |
Het |
Gm3543 |
A |
G |
14: 41,802,022 (GRCm39) |
I154T |
possibly damaging |
Het |
Gpr150 |
T |
A |
13: 76,204,950 (GRCm39) |
|
probably benign |
Het |
Gstp3 |
A |
G |
19: 4,109,255 (GRCm39) |
|
probably benign |
Het |
Gzmm |
C |
T |
10: 79,528,790 (GRCm39) |
T64I |
probably damaging |
Het |
Hs3st1 |
T |
A |
5: 39,771,792 (GRCm39) |
K284* |
probably null |
Het |
Itih2 |
A |
T |
2: 10,131,055 (GRCm39) |
I94N |
probably damaging |
Het |
Kif26b |
A |
G |
1: 178,744,497 (GRCm39) |
N1531S |
probably benign |
Het |
Kif27 |
T |
C |
13: 58,459,021 (GRCm39) |
S937G |
probably benign |
Het |
Klhl2 |
A |
G |
8: 65,207,426 (GRCm39) |
V311A |
probably damaging |
Het |
Klrb1b |
T |
A |
6: 128,795,892 (GRCm39) |
Q109L |
probably null |
Het |
Lrig2 |
A |
G |
3: 104,371,613 (GRCm39) |
F697L |
probably damaging |
Het |
Lrrc66 |
T |
C |
5: 73,764,725 (GRCm39) |
R773G |
probably benign |
Het |
Mrgpra2b |
C |
T |
7: 47,113,815 (GRCm39) |
V306I |
probably benign |
Het |
Nipbl |
T |
C |
15: 8,368,463 (GRCm39) |
H1127R |
probably benign |
Het |
Nr3c2 |
A |
T |
8: 77,944,213 (GRCm39) |
D816V |
probably damaging |
Het |
Ntmt2 |
T |
A |
1: 163,530,783 (GRCm39) |
I219L |
probably damaging |
Het |
Or10a3 |
T |
C |
7: 108,480,811 (GRCm39) |
M1V |
probably null |
Het |
Or5w19 |
A |
C |
2: 87,698,484 (GRCm39) |
M50L |
probably benign |
Het |
Pdxdc1 |
A |
G |
16: 13,675,281 (GRCm39) |
L350P |
probably damaging |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Pnpla7 |
T |
C |
2: 24,905,301 (GRCm39) |
|
probably benign |
Het |
Ppan |
T |
G |
9: 20,802,608 (GRCm39) |
L283R |
probably damaging |
Het |
Rbfox3 |
A |
C |
11: 118,387,257 (GRCm39) |
S286A |
probably benign |
Het |
Rbl2 |
A |
G |
8: 91,812,330 (GRCm39) |
T273A |
probably benign |
Het |
Recql4 |
G |
T |
15: 76,590,296 (GRCm39) |
|
probably null |
Het |
Slc22a26 |
T |
A |
19: 7,779,466 (GRCm39) |
M117L |
probably benign |
Het |
Sult2a2 |
T |
A |
7: 13,468,822 (GRCm39) |
I96K |
probably damaging |
Het |
Tcf15 |
G |
A |
2: 151,990,626 (GRCm39) |
R175H |
probably benign |
Het |
Uggt1 |
A |
T |
1: 36,247,037 (GRCm39) |
V320D |
probably damaging |
Het |
Vmn2r102 |
A |
G |
17: 19,914,286 (GRCm39) |
N617S |
probably damaging |
Het |
Vpreb3 |
A |
G |
10: 75,785,133 (GRCm39) |
Y77C |
probably damaging |
Het |
Zbbx |
A |
T |
3: 74,978,930 (GRCm39) |
|
probably benign |
Het |
Zfand6 |
A |
T |
7: 84,283,185 (GRCm39) |
S57R |
probably benign |
Het |
Zmym2 |
A |
G |
14: 57,151,500 (GRCm39) |
I462V |
probably benign |
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 |
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 |
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 |
2016-08-02 |