Incidental Mutation 'R0069:Ints3'
ID |
33085 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ints3
|
Ensembl Gene |
ENSMUSG00000027933 |
Gene Name |
integrator complex subunit 3 |
Synonyms |
|
MMRRC Submission |
038360-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
R0069 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
3 |
Chromosomal Location |
90298695-90340929 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 90307954 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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.4%
|
Validation Efficiency |
96% (52/54) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
A |
T |
6: 128,538,525 (GRCm39) |
C632S |
probably damaging |
Het |
Antxr2 |
T |
A |
5: 98,096,109 (GRCm39) |
M392L |
possibly damaging |
Het |
Cd101 |
A |
G |
3: 100,915,533 (GRCm39) |
V678A |
probably benign |
Het |
Clec2g |
T |
C |
6: 128,957,274 (GRCm39) |
|
probably null |
Het |
Clec2g |
T |
A |
6: 128,925,716 (GRCm39) |
S42T |
probably benign |
Het |
Creb1 |
A |
G |
1: 64,615,367 (GRCm39) |
I240V |
possibly damaging |
Het |
D2hgdh |
G |
T |
1: 93,763,009 (GRCm39) |
V265L |
possibly damaging |
Het |
Dctn2 |
A |
T |
10: 127,113,354 (GRCm39) |
|
probably null |
Het |
Diablo |
A |
T |
5: 123,656,087 (GRCm39) |
S117R |
probably damaging |
Het |
Ebf2 |
A |
T |
14: 67,647,499 (GRCm39) |
R349S |
probably damaging |
Het |
Fam168a |
C |
T |
7: 100,484,618 (GRCm39) |
A252V |
probably benign |
Het |
Fbn2 |
T |
C |
18: 58,202,256 (GRCm39) |
Y1299C |
probably damaging |
Het |
Gne |
A |
C |
4: 44,060,099 (GRCm39) |
V98G |
probably damaging |
Het |
Hk2 |
A |
G |
6: 82,713,509 (GRCm39) |
|
probably null |
Het |
Ifi206 |
A |
T |
1: 173,314,413 (GRCm39) |
V9D |
probably damaging |
Het |
Itgal |
A |
G |
7: 126,909,503 (GRCm39) |
T56A |
probably benign |
Het |
Lzts3 |
T |
A |
2: 130,478,460 (GRCm39) |
T213S |
probably benign |
Het |
Map1b |
A |
G |
13: 99,566,356 (GRCm39) |
S2122P |
unknown |
Het |
Mei4 |
C |
T |
9: 81,907,635 (GRCm39) |
Q223* |
probably null |
Het |
Mpzl3 |
T |
C |
9: 44,979,550 (GRCm39) |
V167A |
probably damaging |
Het |
Myo1d |
A |
G |
11: 80,528,779 (GRCm39) |
I681T |
probably damaging |
Het |
Myom2 |
A |
G |
8: 15,167,624 (GRCm39) |
T1070A |
probably benign |
Het |
Nacc1 |
T |
A |
8: 85,403,828 (GRCm39) |
I16F |
probably damaging |
Het |
Nfx1 |
T |
C |
4: 40,986,688 (GRCm39) |
|
probably benign |
Het |
Or10ak12 |
A |
T |
4: 118,666,887 (GRCm39) |
V58D |
probably damaging |
Het |
Or8g33 |
A |
G |
9: 39,338,188 (GRCm39) |
Y60H |
probably damaging |
Het |
Ostm1 |
A |
C |
10: 42,568,952 (GRCm39) |
D37A |
probably benign |
Het |
Pde8a |
T |
C |
7: 80,968,871 (GRCm39) |
|
probably benign |
Het |
Pole2 |
A |
T |
12: 69,256,661 (GRCm39) |
V288E |
probably damaging |
Het |
Poteg |
T |
C |
8: 27,937,849 (GRCm39) |
S2P |
probably benign |
Het |
Ppp2r5c |
A |
T |
12: 110,534,204 (GRCm39) |
M356L |
probably benign |
Het |
Prkdc |
G |
A |
16: 15,544,368 (GRCm39) |
S1786N |
probably benign |
Het |
Prox1 |
A |
G |
1: 189,893,116 (GRCm39) |
V443A |
possibly damaging |
Het |
Prpf6 |
T |
A |
2: 181,257,756 (GRCm39) |
|
probably null |
Het |
Ptger1 |
A |
T |
8: 84,394,948 (GRCm39) |
T142S |
possibly damaging |
Het |
Rad54l2 |
C |
A |
9: 106,587,564 (GRCm39) |
V734L |
possibly damaging |
Het |
Rnpepl1 |
T |
A |
1: 92,846,620 (GRCm39) |
N507K |
possibly damaging |
Het |
Slc38a10 |
A |
T |
11: 119,997,328 (GRCm39) |
V722E |
probably damaging |
Het |
Slfn10-ps |
A |
G |
11: 82,926,368 (GRCm39) |
|
noncoding transcript |
Het |
Slitrk6 |
A |
T |
14: 110,987,364 (GRCm39) |
L781H |
probably damaging |
Het |
Sult1e1 |
A |
T |
5: 87,727,756 (GRCm39) |
H175Q |
probably damaging |
Het |
Ube2e3 |
C |
A |
2: 78,750,293 (GRCm39) |
|
probably benign |
Het |
Vmn1r208 |
A |
T |
13: 22,956,595 (GRCm39) |
W301R |
probably benign |
Het |
Vps13d |
A |
G |
4: 144,789,133 (GRCm39) |
I746T |
probably benign |
Het |
Xpnpep3 |
T |
C |
15: 81,314,999 (GRCm39) |
V233A |
probably benign |
Het |
Zfp329 |
A |
T |
7: 12,544,859 (GRCm39) |
S222T |
probably damaging |
Het |
Zswim6 |
T |
C |
13: 107,875,098 (GRCm39) |
|
noncoding transcript |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAAGTAGTAGAGCAGGTGGTAGCC -3'
(R):5'- TGCCAGTCAGAAGTCTCATCCTCAG -3'
Sequencing Primer
(F):5'- CTAGCATAGGCTCTCCTAAGGTG -3'
(R):5'- CAGAAGTCTCATCCTCAGATTTTGTG -3'
|
Posted On |
2013-05-09 |