Incidental Mutation 'IGL02889:Ints3'
| ID |
363106 |
| 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 # |
IGL02889
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
90298695-90340929 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 90300143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 925
(H925N)
|
| 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 |
probably damaging
Transcript: ENSMUST00000029542
AA Change: H925N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000029542
Gene: ENSMUSG00000027933
AA Change: H925N
| 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 damaging
Transcript: ENSMUST00000071488
AA Change: H925N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000071422
Gene: ENSMUSG00000027933
AA Change: H925N
| 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 |
possibly damaging
Transcript: ENSMUST00000196530
AA Change: H925N
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000143196
Gene: ENSMUSG00000027933
AA Change: H925N
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb1 |
C |
T |
10: 77,149,375 (GRCm39) |
V371I |
probably benign |
Het |
| Amdhd2 |
A |
G |
17: 24,376,761 (GRCm39) |
L308P |
probably damaging |
Het |
| Antxr2 |
G |
T |
5: 98,125,509 (GRCm39) |
H249Q |
probably benign |
Het |
| Arg1 |
A |
T |
10: 24,791,653 (GRCm39) |
M276K |
probably damaging |
Het |
| Bloc1s6 |
T |
C |
2: 122,584,604 (GRCm39) |
Y60H |
probably damaging |
Het |
| Btnl9 |
A |
T |
11: 49,069,604 (GRCm39) |
V225E |
probably damaging |
Het |
| Col1a1 |
T |
C |
11: 94,842,335 (GRCm39) |
Y1418H |
unknown |
Het |
| Ct45a |
C |
A |
X: 55,592,551 (GRCm39) |
K19N |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,554,581 (GRCm39) |
I1162K |
possibly damaging |
Het |
| Dmgdh |
T |
C |
13: 93,852,185 (GRCm39) |
|
probably null |
Het |
| Ear10 |
A |
G |
14: 44,160,726 (GRCm39) |
F34L |
probably damaging |
Het |
| Fli1 |
A |
G |
9: 32,376,992 (GRCm39) |
I92T |
probably damaging |
Het |
| Fpgs |
G |
A |
2: 32,575,891 (GRCm39) |
|
probably benign |
Het |
| Glp1r |
T |
A |
17: 31,150,118 (GRCm39) |
|
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,503,116 (GRCm39) |
Y4362N |
possibly damaging |
Het |
| Ifitm3 |
C |
T |
7: 140,589,792 (GRCm39) |
R87Q |
probably damaging |
Het |
| Itgb4 |
T |
A |
11: 115,879,731 (GRCm39) |
C628S |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,878,443 (GRCm39) |
D402V |
possibly damaging |
Het |
| Kcnh3 |
A |
T |
15: 99,124,991 (GRCm39) |
E147V |
probably null |
Het |
| Krtap19-4 |
T |
C |
16: 88,681,944 (GRCm39) |
Y4C |
unknown |
Het |
| Lrp2 |
A |
T |
2: 69,382,794 (GRCm39) |
S30R |
possibly damaging |
Het |
| Or11g27 |
A |
G |
14: 50,770,970 (GRCm39) |
I34V |
probably benign |
Het |
| Or8g2b |
A |
G |
9: 39,751,533 (GRCm39) |
M268V |
probably benign |
Het |
| Prima1 |
A |
G |
12: 103,163,575 (GRCm39) |
V132A |
probably benign |
Het |
| Psme1 |
A |
G |
14: 55,817,383 (GRCm39) |
|
probably benign |
Het |
| Rab11fip3 |
C |
A |
17: 26,286,653 (GRCm39) |
R500L |
possibly damaging |
Het |
| Rnf40 |
C |
A |
7: 127,190,601 (GRCm39) |
S255* |
probably null |
Het |
| Sebox |
T |
C |
11: 78,395,156 (GRCm39) |
V166A |
probably benign |
Het |
| Spata24 |
C |
A |
18: 35,789,805 (GRCm39) |
R194L |
probably benign |
Het |
| Spata31h1 |
C |
T |
10: 82,119,654 (GRCm39) |
S482N |
probably damaging |
Het |
| Tbx4 |
T |
A |
11: 85,790,621 (GRCm39) |
Y154* |
probably null |
Het |
| Trim24 |
G |
A |
6: 37,934,696 (GRCm39) |
E768K |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,562,304 (GRCm39) |
V28847A |
possibly damaging |
Het |
| Utp6 |
T |
A |
11: 79,839,896 (GRCm39) |
Q264L |
possibly damaging |
Het |
| Vim |
A |
G |
2: 13,585,491 (GRCm39) |
R424G |
probably damaging |
Het |
| Vmn1r216 |
A |
C |
13: 23,283,649 (GRCm39) |
T111P |
probably damaging |
Het |
| Wnt11 |
G |
A |
7: 98,499,566 (GRCm39) |
A244T |
probably damaging |
Het |
| Zbtb26 |
A |
C |
2: 37,326,261 (GRCm39) |
N247K |
probably benign |
Het |
| Zfp629 |
T |
G |
7: 127,209,203 (GRCm39) |
|
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 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation