Incidental Mutation 'IGL01984:Ints3'
| ID |
181836 |
| 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: 0.968)
|
| Stock # |
IGL01984
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
90298695-90340929 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90299533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1012
(S1012P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071422
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029541]
[ENSMUST00000029542]
[ENSMUST00000071488]
[ENSMUST00000196530]
|
| AlphaFold |
Q7TPD0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029541
|
| SMART Domains |
Protein: ENSMUSP00000029541
Gene: ENSMUSG00000027932
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
56 |
N/A |
INTRINSIC |
|
Pfam:AMP-binding
|
138 |
535 |
9.2e-62 |
PFAM |
|
Pfam:AMP-binding_C
|
543 |
619 |
9.6e-9 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029542
AA Change: S1012P
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000029542
Gene: ENSMUSG00000027933
AA Change: S1012P
| 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 |
possibly damaging
Transcript: ENSMUST00000071488
AA Change: S1012P
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000071422
Gene: ENSMUSG00000027933
AA Change: S1012P
| 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 |
noncoding transcript
Transcript: ENSMUST00000127064
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132041
|
| SMART Domains |
Protein: ENSMUSP00000122599
Gene: ENSMUSG00000027932
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
106 |
N/A |
INTRINSIC |
|
Pfam:AMP-binding
|
147 |
501 |
5.3e-50 |
PFAM |
|
Pfam:AMP-binding_C
|
509 |
585 |
2.9e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144572
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153978
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000196530
AA Change: S1012P
|
| SMART Domains |
Protein: ENSMUSP00000143196
Gene: ENSMUSG00000027933
AA Change: S1012P
| 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: ENSMUST00000198776
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199992
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
C |
T |
3: 89,970,537 (GRCm39) |
L24F |
probably benign |
Het |
| Adamts16 |
T |
C |
13: 70,935,266 (GRCm39) |
D442G |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,811,487 (GRCm39) |
T634A |
probably damaging |
Het |
| Anxa3 |
A |
T |
5: 96,982,630 (GRCm39) |
|
probably benign |
Het |
| Ccnh |
T |
C |
13: 85,354,270 (GRCm39) |
L202P |
probably damaging |
Het |
| Clcn3 |
A |
T |
8: 61,382,614 (GRCm39) |
S325T |
probably damaging |
Het |
| Clec2d |
A |
T |
6: 129,161,192 (GRCm39) |
E96D |
possibly damaging |
Het |
| Csn1s1 |
A |
T |
5: 87,824,369 (GRCm39) |
|
probably benign |
Het |
| Dcun1d5 |
T |
A |
9: 7,205,307 (GRCm39) |
Y189N |
possibly damaging |
Het |
| Dnah7a |
T |
C |
1: 53,741,174 (GRCm39) |
|
probably null |
Het |
| Dpcd |
C |
T |
19: 45,565,469 (GRCm39) |
H148Y |
probably benign |
Het |
| Efcab3 |
T |
A |
11: 104,629,134 (GRCm39) |
D937E |
probably benign |
Het |
| Erg |
T |
G |
16: 95,210,786 (GRCm39) |
D15A |
probably damaging |
Het |
| Gm21759 |
T |
A |
5: 8,230,547 (GRCm39) |
|
probably benign |
Het |
| Heatr5b |
C |
T |
17: 79,103,926 (GRCm39) |
R1083Q |
possibly damaging |
Het |
| Klhl3 |
C |
T |
13: 58,159,057 (GRCm39) |
|
probably benign |
Het |
| Lama4 |
T |
A |
10: 38,951,525 (GRCm39) |
|
probably null |
Het |
| Magi1 |
A |
T |
6: 93,685,155 (GRCm39) |
V740D |
probably damaging |
Het |
| Nme8 |
C |
A |
13: 19,873,150 (GRCm39) |
V165L |
probably damaging |
Het |
| Odf2l |
G |
T |
3: 144,845,590 (GRCm39) |
E5* |
probably null |
Het |
| Or14j4 |
T |
C |
17: 37,934,552 (GRCm39) |
|
probably benign |
Het |
| Or4k47 |
A |
G |
2: 111,451,927 (GRCm39) |
L164S |
probably benign |
Het |
| Or56a5 |
A |
T |
7: 104,792,923 (GRCm39) |
D192E |
probably benign |
Het |
| Pcnx4 |
T |
C |
12: 72,621,183 (GRCm39) |
V1001A |
probably benign |
Het |
| Plaa |
A |
G |
4: 94,459,922 (GRCm39) |
|
probably null |
Het |
| Prkdc |
G |
A |
16: 15,526,643 (GRCm39) |
A1305T |
probably benign |
Het |
| Rnps1 |
T |
C |
17: 24,643,371 (GRCm39) |
|
probably benign |
Het |
| St8sia5 |
T |
C |
18: 77,336,157 (GRCm39) |
F197L |
probably benign |
Het |
| Sult3a1 |
G |
T |
10: 33,755,205 (GRCm39) |
G257* |
probably null |
Het |
| Svep1 |
A |
C |
4: 58,068,877 (GRCm39) |
Y2970D |
possibly damaging |
Het |
| Tns3 |
G |
T |
11: 8,498,992 (GRCm39) |
Y30* |
probably null |
Het |
| Ubr1 |
G |
T |
2: 120,751,867 (GRCm39) |
P791T |
probably damaging |
Het |
| Zfp592 |
T |
C |
7: 80,688,392 (GRCm39) |
V1039A |
probably benign |
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 |
|
IGL01339:Ints3
|
APN |
3 |
90,322,463 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation