Incidental Mutation 'IGL02975:Ints3'
ID |
406361 |
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 # |
IGL02975
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
90298695-90340929 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 90309144 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 benign
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 benign
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 benign
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: ENSMUST00000198776
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199158
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
T |
C |
5: 99,381,784 (GRCm39) |
D326G |
possibly damaging |
Het |
Abtb3 |
A |
G |
10: 85,467,207 (GRCm39) |
I721V |
probably benign |
Het |
Ago4 |
C |
T |
4: 126,406,312 (GRCm39) |
|
probably null |
Het |
Ank |
A |
G |
15: 27,467,087 (GRCm39) |
|
probably benign |
Het |
Ankmy2 |
C |
A |
12: 36,243,773 (GRCm39) |
S329R |
possibly damaging |
Het |
Aox1 |
A |
G |
1: 58,107,550 (GRCm39) |
E608G |
probably damaging |
Het |
Car1 |
G |
A |
3: 14,842,882 (GRCm39) |
L48F |
probably benign |
Het |
Cct8 |
A |
G |
16: 87,283,118 (GRCm39) |
|
probably benign |
Het |
Clasp1 |
A |
T |
1: 118,390,277 (GRCm39) |
T154S |
probably damaging |
Het |
Clca4a |
A |
C |
3: 144,669,530 (GRCm39) |
I340M |
possibly damaging |
Het |
Cnksr3 |
C |
T |
10: 7,088,354 (GRCm39) |
|
probably null |
Het |
Cntrob |
T |
C |
11: 69,210,199 (GRCm39) |
T265A |
possibly damaging |
Het |
Ddx5 |
T |
C |
11: 106,672,711 (GRCm39) |
I605V |
probably benign |
Het |
Eif3i |
A |
G |
4: 129,489,105 (GRCm39) |
Y70H |
probably damaging |
Het |
Epb41l5 |
T |
C |
1: 119,506,811 (GRCm39) |
|
probably benign |
Het |
Fah |
A |
T |
7: 84,250,287 (GRCm39) |
S90T |
probably benign |
Het |
Fat2 |
T |
A |
11: 55,161,020 (GRCm39) |
M3237L |
probably benign |
Het |
Fbxw8 |
A |
G |
5: 118,215,760 (GRCm39) |
Y417H |
probably benign |
Het |
Fmnl2 |
C |
A |
2: 52,991,494 (GRCm39) |
F336L |
probably benign |
Het |
Gli3 |
A |
G |
13: 15,899,153 (GRCm39) |
R847G |
probably damaging |
Het |
Gm17509 |
T |
C |
13: 117,357,308 (GRCm39) |
|
probably benign |
Het |
Gm4846 |
T |
A |
1: 166,311,449 (GRCm39) |
Y470F |
possibly damaging |
Het |
Gm7461 |
T |
C |
8: 4,727,847 (GRCm39) |
|
noncoding transcript |
Het |
Gpatch4 |
A |
T |
3: 87,961,743 (GRCm39) |
N134I |
possibly damaging |
Het |
Grina |
A |
G |
15: 76,133,185 (GRCm39) |
Y251C |
probably damaging |
Het |
Gsn |
A |
G |
2: 35,194,666 (GRCm39) |
D654G |
probably benign |
Het |
Hyal5 |
A |
G |
6: 24,891,451 (GRCm39) |
T422A |
probably benign |
Het |
Iars1 |
T |
A |
13: 49,858,325 (GRCm39) |
I377N |
probably damaging |
Het |
Kdm4b |
G |
A |
17: 56,682,996 (GRCm39) |
|
probably null |
Het |
Kyat1 |
A |
G |
2: 30,076,687 (GRCm39) |
S276P |
probably damaging |
Het |
Lrrc1 |
A |
G |
9: 77,359,929 (GRCm39) |
C288R |
probably damaging |
Het |
Mst1r |
T |
A |
9: 107,790,379 (GRCm39) |
M664K |
probably benign |
Het |
Neb |
A |
T |
2: 52,188,879 (GRCm39) |
I817N |
probably damaging |
Het |
Nudt6 |
C |
A |
3: 37,473,667 (GRCm39) |
G18V |
probably damaging |
Het |
Or10a49 |
G |
A |
7: 108,468,062 (GRCm39) |
Q100* |
probably null |
Het |
Or4k52 |
T |
A |
2: 111,611,266 (GRCm39) |
Y200* |
probably null |
Het |
Or7a41 |
T |
C |
10: 78,870,867 (GRCm39) |
V79A |
possibly damaging |
Het |
Pde1c |
A |
G |
6: 56,135,921 (GRCm39) |
I341T |
probably damaging |
Het |
Pgm5 |
T |
C |
19: 24,812,212 (GRCm39) |
I107V |
probably benign |
Het |
Pot1b |
G |
A |
17: 55,969,454 (GRCm39) |
|
probably benign |
Het |
Prkca |
C |
T |
11: 108,231,503 (GRCm39) |
W58* |
probably null |
Het |
Slc12a9 |
T |
C |
5: 137,320,705 (GRCm39) |
K555R |
probably damaging |
Het |
Smoc2 |
A |
T |
17: 14,556,872 (GRCm39) |
Q107L |
probably damaging |
Het |
Sytl1 |
T |
A |
4: 132,988,343 (GRCm39) |
R4S |
probably benign |
Het |
Tbc1d4 |
A |
G |
14: 101,695,549 (GRCm39) |
L963P |
probably damaging |
Het |
Tfdp2 |
G |
A |
9: 96,199,989 (GRCm39) |
|
probably benign |
Het |
Tmem63a |
A |
T |
1: 180,788,640 (GRCm39) |
M326L |
probably benign |
Het |
Vmn2r66 |
A |
G |
7: 84,656,182 (GRCm39) |
L278P |
probably damaging |
Het |
Wtap |
A |
G |
17: 13,202,398 (GRCm39) |
V11A |
possibly damaging |
Het |
Zcchc9 |
A |
T |
13: 91,954,172 (GRCm39) |
S28T |
possibly damaging |
Het |
Zfp12 |
C |
T |
5: 143,229,814 (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 |
IGL02889:Ints3
|
APN |
3 |
90,300,143 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2016-08-02 |