Incidental Mutation 'IGL01339:Ints3'
| ID |
74785 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ints3
|
| Ensembl Gene |
ENSMUSG00000027933 |
| Gene Name |
integrator complex subunit 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
IGL01339
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
90298695-90340929 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 90322463 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029542]
[ENSMUST00000071488]
[ENSMUST00000196530]
|
| AlphaFold |
Q7TPD0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029542
|
| SMART Domains |
Protein: ENSMUSP00000029542
Gene: ENSMUSG00000027933
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
33 |
N/A |
INTRINSIC |
|
Pfam:DUF2356
|
269 |
493 |
6e-110 |
PFAM |
|
low complexity region
|
557 |
568 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
666 |
678 |
N/A |
INTRINSIC |
|
coiled coil region
|
913 |
940 |
N/A |
INTRINSIC |
|
low complexity region
|
1006 |
1019 |
N/A |
INTRINSIC |
|
low complexity region
|
1021 |
1031 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000071488
|
| SMART Domains |
Protein: ENSMUSP00000071422
Gene: ENSMUSG00000027933
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
33 |
N/A |
INTRINSIC |
|
Pfam:DUF2356
|
269 |
493 |
6e-110 |
PFAM |
|
low complexity region
|
557 |
568 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
666 |
678 |
N/A |
INTRINSIC |
|
coiled coil region
|
913 |
940 |
N/A |
INTRINSIC |
|
low complexity region
|
1006 |
1019 |
N/A |
INTRINSIC |
|
low complexity region
|
1021 |
1031 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000196530
|
| SMART Domains |
Protein: ENSMUSP00000143196
Gene: ENSMUSG00000027933
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
33 |
N/A |
INTRINSIC |
|
Pfam:DUF2356
|
268 |
497 |
5.7e-114 |
PFAM |
|
low complexity region
|
557 |
568 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
666 |
678 |
N/A |
INTRINSIC |
|
coiled coil region
|
913 |
940 |
N/A |
INTRINSIC |
|
low complexity region
|
1006 |
1018 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198562
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene can form a complex with human single-strand DNA binding proteins 1 or 2 (hSSB1 and hSSB2) and other proteins to mediate genome stability and the DNA damage response. The encoded protein is also part of a multiprotein complex that interacts with the C-terminal domain of RNA polymerase II large subunit to help regulate processing of U1 and U2 small nuclear RNAs. [provided by RefSeq, May 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bahcc1 |
A |
G |
11: 120,180,338 (GRCm39) |
T2565A |
probably damaging |
Het |
| C8a |
A |
C |
4: 104,685,182 (GRCm39) |
F354V |
probably benign |
Het |
| Cadps |
C |
T |
14: 12,486,543 (GRCm38) |
V876M |
possibly damaging |
Het |
| Chmp7 |
A |
T |
14: 69,956,855 (GRCm39) |
I351N |
probably damaging |
Het |
| Clec7a |
A |
T |
6: 129,442,449 (GRCm39) |
W193R |
probably damaging |
Het |
| Clint1 |
T |
C |
11: 45,799,846 (GRCm39) |
V535A |
probably benign |
Het |
| Clu |
A |
G |
14: 66,213,037 (GRCm39) |
E141G |
probably damaging |
Het |
| Cmah |
A |
T |
13: 24,614,532 (GRCm39) |
D159V |
probably damaging |
Het |
| Cntn2 |
A |
T |
1: 132,446,643 (GRCm39) |
|
probably null |
Het |
| Cox6a1 |
C |
A |
5: 115,483,898 (GRCm39) |
|
probably benign |
Het |
| Cyp2d10 |
C |
T |
15: 82,288,042 (GRCm39) |
A195T |
probably benign |
Het |
| Dnah10 |
G |
T |
5: 124,854,276 (GRCm39) |
K1901N |
probably damaging |
Het |
| Dnai3 |
T |
C |
3: 145,748,591 (GRCm39) |
Y841C |
probably benign |
Het |
| Dop1a |
G |
A |
9: 86,433,730 (GRCm39) |
D2329N |
possibly damaging |
Het |
| Eipr1 |
A |
G |
12: 28,914,770 (GRCm39) |
E308G |
probably damaging |
Het |
| Exoc4 |
T |
C |
6: 33,282,335 (GRCm39) |
|
probably benign |
Het |
| Fancd2 |
A |
G |
6: 113,530,713 (GRCm39) |
I449V |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,246,442 (GRCm39) |
T487A |
possibly damaging |
Het |
| Fbxo40 |
T |
C |
16: 36,790,816 (GRCm39) |
E98G |
probably damaging |
Het |
| Folh1 |
G |
A |
7: 86,375,306 (GRCm39) |
T527I |
probably damaging |
Het |
| Gls |
C |
T |
1: 52,227,867 (GRCm39) |
D217N |
probably damaging |
Het |
| Gm6994 |
A |
G |
14: 77,718,618 (GRCm39) |
|
probably benign |
Het |
| Gpr149 |
A |
T |
3: 62,511,718 (GRCm39) |
W94R |
probably damaging |
Het |
| Gpr158 |
A |
G |
2: 21,373,842 (GRCm39) |
D259G |
possibly damaging |
Het |
| Hcn2 |
T |
C |
10: 79,564,902 (GRCm39) |
L438P |
probably damaging |
Het |
| Hgd |
A |
C |
16: 37,452,092 (GRCm39) |
T374P |
possibly damaging |
Het |
| Kctd5 |
A |
T |
17: 24,276,749 (GRCm39) |
V172E |
probably damaging |
Het |
| Lmcd1 |
A |
G |
6: 112,287,586 (GRCm39) |
I91V |
probably benign |
Het |
| Lrrc37a |
A |
G |
11: 103,388,763 (GRCm39) |
S2221P |
unknown |
Het |
| Ltk |
T |
A |
2: 119,583,455 (GRCm39) |
D310V |
probably damaging |
Het |
| Luzp1 |
T |
A |
4: 136,270,087 (GRCm39) |
M770K |
probably damaging |
Het |
| Mxd4 |
G |
A |
5: 34,341,690 (GRCm39) |
|
probably benign |
Het |
| Mzb1 |
T |
A |
18: 35,781,399 (GRCm39) |
H71L |
probably benign |
Het |
| Necap2 |
G |
A |
4: 140,802,276 (GRCm39) |
T63I |
probably benign |
Het |
| Nefl |
A |
G |
14: 68,323,931 (GRCm39) |
|
probably benign |
Het |
| Odam |
G |
A |
5: 88,033,755 (GRCm39) |
|
probably null |
Het |
| Pcdh18 |
A |
G |
3: 49,710,247 (GRCm39) |
I356T |
probably benign |
Het |
| Pcx |
T |
A |
19: 4,670,263 (GRCm39) |
|
probably null |
Het |
| Pde2a |
T |
C |
7: 101,156,366 (GRCm39) |
S593P |
probably benign |
Het |
| Rapgef3 |
A |
T |
15: 97,655,940 (GRCm39) |
L359M |
probably damaging |
Het |
| Rb1 |
T |
C |
14: 73,501,811 (GRCm39) |
|
probably null |
Het |
| Rbm44 |
A |
G |
1: 91,096,686 (GRCm39) |
I976V |
probably benign |
Het |
| Rdh13 |
A |
T |
7: 4,430,623 (GRCm39) |
S278R |
probably damaging |
Het |
| Rgma |
A |
G |
7: 73,067,231 (GRCm39) |
E256G |
probably damaging |
Het |
| Rnf112 |
A |
T |
11: 61,341,303 (GRCm39) |
D402E |
probably benign |
Het |
| Rnps1 |
T |
A |
17: 24,641,273 (GRCm39) |
D224E |
probably damaging |
Het |
| Scn10a |
C |
T |
9: 119,451,832 (GRCm39) |
V1364M |
probably damaging |
Het |
| Scn1a |
C |
T |
2: 66,156,304 (GRCm39) |
R535H |
probably benign |
Het |
| Scn8a |
A |
T |
15: 100,930,082 (GRCm39) |
D1431V |
probably benign |
Het |
| Setdb1 |
A |
T |
3: 95,245,891 (GRCm39) |
L677* |
probably null |
Het |
| Slc17a8 |
T |
A |
10: 89,427,106 (GRCm39) |
I148F |
probably damaging |
Het |
| Slx4ip |
T |
A |
2: 136,885,975 (GRCm39) |
C98* |
probably null |
Het |
| Sptbn2 |
T |
G |
19: 4,796,000 (GRCm39) |
Y1726* |
probably null |
Het |
| Tcof1 |
T |
C |
18: 60,951,167 (GRCm39) |
|
probably benign |
Het |
| Tdrd3 |
G |
A |
14: 87,718,230 (GRCm39) |
V210I |
possibly damaging |
Het |
| Tdrd9 |
G |
A |
12: 112,006,868 (GRCm39) |
V911M |
probably damaging |
Het |
| Tmod4 |
G |
A |
3: 95,035,608 (GRCm39) |
R252H |
probably benign |
Het |
| Tti1 |
G |
T |
2: 157,851,050 (GRCm39) |
P63Q |
possibly damaging |
Het |
| Tuft1 |
A |
T |
3: 94,535,594 (GRCm39) |
D109E |
probably damaging |
Het |
| Zcchc2 |
T |
C |
1: 105,957,505 (GRCm39) |
S659P |
probably damaging |
Het |
|
| Other mutations in Ints3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00155:Ints3
|
APN |
3 |
90,313,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01398:Ints3
|
APN |
3 |
90,300,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01599:Ints3
|
APN |
3 |
90,301,629 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01864:Ints3
|
APN |
3 |
90,322,486 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL01984:Ints3
|
APN |
3 |
90,299,533 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02325:Ints3
|
APN |
3 |
90,311,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02516:Ints3
|
APN |
3 |
90,310,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02867:Ints3
|
APN |
3 |
90,300,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02889:Ints3
|
APN |
3 |
90,300,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02975:Ints3
|
APN |
3 |
90,309,144 (GRCm39) |
splice site |
probably benign |
|
|
PIT4431001:Ints3
|
UTSW |
3 |
90,303,767 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0003:Ints3
|
UTSW |
3 |
90,315,818 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0003:Ints3
|
UTSW |
3 |
90,315,818 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0069:Ints3
|
UTSW |
3 |
90,307,954 (GRCm39) |
splice site |
probably benign |
|
|
R0069:Ints3
|
UTSW |
3 |
90,307,954 (GRCm39) |
splice site |
probably benign |
|
|
R1450:Ints3
|
UTSW |
3 |
90,340,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1985:Ints3
|
UTSW |
3 |
90,307,610 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2324:Ints3
|
UTSW |
3 |
90,301,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2425:Ints3
|
UTSW |
3 |
90,301,417 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2920:Ints3
|
UTSW |
3 |
90,300,469 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3937:Ints3
|
UTSW |
3 |
90,311,294 (GRCm39) |
nonsense |
probably null |
|
|
R4678:Ints3
|
UTSW |
3 |
90,315,817 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4679:Ints3
|
UTSW |
3 |
90,315,817 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4719:Ints3
|
UTSW |
3 |
90,322,828 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4726:Ints3
|
UTSW |
3 |
90,301,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4993:Ints3
|
UTSW |
3 |
90,322,814 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5154:Ints3
|
UTSW |
3 |
90,322,868 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5243:Ints3
|
UTSW |
3 |
90,308,451 (GRCm39) |
frame shift |
probably null |
|
|
R5454:Ints3
|
UTSW |
3 |
90,315,834 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5678:Ints3
|
UTSW |
3 |
90,310,855 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6123:Ints3
|
UTSW |
3 |
90,320,861 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6548:Ints3
|
UTSW |
3 |
90,299,431 (GRCm39) |
unclassified |
probably benign |
|
|
R6916:Ints3
|
UTSW |
3 |
90,313,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7265:Ints3
|
UTSW |
3 |
90,311,290 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7332:Ints3
|
UTSW |
3 |
90,322,819 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7699:Ints3
|
UTSW |
3 |
90,329,111 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7700:Ints3
|
UTSW |
3 |
90,329,111 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7790:Ints3
|
UTSW |
3 |
90,307,720 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7827:Ints3
|
UTSW |
3 |
90,331,319 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7915:Ints3
|
UTSW |
3 |
90,340,132 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8118:Ints3
|
UTSW |
3 |
90,307,606 (GRCm39) |
splice site |
probably null |
|
|
R8119:Ints3
|
UTSW |
3 |
90,299,607 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8193:Ints3
|
UTSW |
3 |
90,307,929 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8468:Ints3
|
UTSW |
3 |
90,313,560 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9240:Ints3
|
UTSW |
3 |
90,310,410 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9260:Ints3
|
UTSW |
3 |
90,308,468 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9486:Ints3
|
UTSW |
3 |
90,313,579 (GRCm39) |
nonsense |
probably null |
|
|
R9634:Ints3
|
UTSW |
3 |
90,318,606 (GRCm39) |
missense |
|
|
|
R9656:Ints3
|
UTSW |
3 |
90,299,839 (GRCm39) |
missense |
probably null |
0.01 |
|
R9744:Ints3
|
UTSW |
3 |
90,318,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ints3
|
UTSW |
3 |
90,313,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation