Incidental Mutation 'R5454:Ints3'
ID |
432658 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ints3
|
Ensembl Gene |
ENSMUSG00000027933 |
Gene Name |
integrator complex subunit 3 |
Synonyms |
|
MMRRC Submission |
043018-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.969)
|
Stock # |
R5454 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
90298695-90340929 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 90315834 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 310
(T310M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071422
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029542]
[ENSMUST00000071488]
[ENSMUST00000196530]
|
AlphaFold |
Q7TPD0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029542
AA Change: T310M
PolyPhen 2
Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000029542 Gene: ENSMUSG00000027933 AA Change: T310M
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: T310M
PolyPhen 2
Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000071422 Gene: ENSMUSG00000027933 AA Change: T310M
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: ENSMUST00000196530
AA Change: T310M
PolyPhen 2
Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000143196 Gene: ENSMUSG00000027933 AA Change: T310M
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
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
100% (60/60) |
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 |
4930579C12Rik |
T |
C |
9: 89,051,041 (GRCm39) |
|
noncoding transcript |
Het |
Ankfy1 |
A |
T |
11: 72,637,757 (GRCm39) |
H483L |
probably benign |
Het |
Ankrd46 |
C |
T |
15: 36,479,447 (GRCm39) |
G215R |
probably damaging |
Het |
Apobec1 |
T |
C |
6: 122,558,327 (GRCm39) |
I143V |
probably benign |
Het |
Atp2b4 |
C |
A |
1: 133,657,610 (GRCm39) |
V627F |
probably damaging |
Het |
Ccdc80 |
T |
A |
16: 44,947,588 (GRCm39) |
Y855* |
probably null |
Het |
Cd209b |
T |
C |
8: 3,975,396 (GRCm39) |
E88G |
probably damaging |
Het |
Ceacam14 |
T |
G |
7: 17,548,110 (GRCm39) |
W67G |
probably damaging |
Het |
Cope |
T |
C |
8: 70,757,306 (GRCm39) |
V50A |
probably benign |
Het |
Dcaf13 |
C |
A |
15: 38,987,759 (GRCm39) |
D168E |
probably benign |
Het |
Dhcr7 |
T |
G |
7: 143,391,576 (GRCm39) |
M55R |
probably damaging |
Het |
Enpp7 |
A |
T |
11: 118,879,634 (GRCm39) |
Y96F |
probably benign |
Het |
Esco1 |
T |
C |
18: 10,584,327 (GRCm39) |
D60G |
probably benign |
Het |
Fgfr3 |
G |
A |
5: 33,880,642 (GRCm39) |
|
probably benign |
Het |
Frzb |
T |
C |
2: 80,248,259 (GRCm39) |
D280G |
probably damaging |
Het |
Gcat |
A |
G |
15: 78,920,610 (GRCm39) |
I317V |
probably benign |
Het |
Gm13030 |
A |
T |
4: 138,600,820 (GRCm39) |
|
probably benign |
Het |
Gmds |
A |
G |
13: 32,312,024 (GRCm39) |
L135P |
probably damaging |
Het |
Htra2 |
G |
A |
6: 83,030,995 (GRCm39) |
P138L |
probably damaging |
Het |
Il5 |
A |
G |
11: 53,614,626 (GRCm39) |
N89S |
probably damaging |
Het |
Itih2 |
T |
C |
2: 10,102,804 (GRCm39) |
I777V |
probably null |
Het |
Kctd9 |
T |
C |
14: 67,977,836 (GRCm39) |
L382S |
probably damaging |
Het |
Loricrin |
A |
G |
3: 91,988,789 (GRCm39) |
S166P |
unknown |
Het |
Mga |
T |
A |
2: 119,733,810 (GRCm39) |
N219K |
probably damaging |
Het |
Mtmr4 |
A |
T |
11: 87,501,868 (GRCm39) |
R641* |
probably null |
Het |
Muc6 |
C |
T |
7: 141,235,078 (GRCm39) |
A611T |
possibly damaging |
Het |
Obox3-ps8 |
A |
T |
17: 36,763,903 (GRCm39) |
|
noncoding transcript |
Het |
Or5p54 |
A |
T |
7: 107,554,096 (GRCm39) |
M83L |
probably benign |
Het |
Otud4 |
C |
T |
8: 80,377,671 (GRCm39) |
L111F |
possibly damaging |
Het |
Pcdhga12 |
T |
A |
18: 37,899,314 (GRCm39) |
S49T |
possibly damaging |
Het |
Pcdhgc3 |
A |
G |
18: 37,941,549 (GRCm39) |
D650G |
probably damaging |
Het |
Pcmt1 |
A |
G |
10: 7,516,509 (GRCm39) |
V167A |
probably damaging |
Het |
Pcnt |
A |
T |
10: 76,225,381 (GRCm39) |
|
probably null |
Het |
Pcx |
G |
T |
19: 4,652,504 (GRCm39) |
V164F |
probably damaging |
Het |
Plekhg4 |
T |
C |
8: 106,102,745 (GRCm39) |
|
probably null |
Het |
Pmch |
A |
G |
10: 87,927,707 (GRCm39) |
E136G |
probably damaging |
Het |
Prkar1a |
A |
G |
11: 109,550,886 (GRCm39) |
D80G |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,560,647 (GRCm39) |
|
probably null |
Het |
Slc10a7 |
T |
C |
8: 79,413,253 (GRCm39) |
S171P |
possibly damaging |
Het |
Sox6 |
A |
T |
7: 115,301,008 (GRCm39) |
M153K |
possibly damaging |
Het |
Srgap2 |
T |
C |
1: 131,217,475 (GRCm39) |
I946V |
probably benign |
Het |
Strbp |
T |
C |
2: 37,535,495 (GRCm39) |
E71G |
probably benign |
Het |
Synpo2l |
C |
A |
14: 20,712,360 (GRCm39) |
A87S |
probably damaging |
Het |
Tnrc18 |
T |
C |
5: 142,757,446 (GRCm39) |
D1025G |
unknown |
Het |
Tnxb |
A |
G |
17: 34,928,599 (GRCm39) |
H2671R |
possibly damaging |
Het |
Tor1b |
GGACG |
GG |
2: 30,846,957 (GRCm39) |
|
probably benign |
Het |
Umodl1 |
A |
T |
17: 31,205,439 (GRCm39) |
D649V |
possibly damaging |
Het |
Usp13 |
G |
T |
3: 32,959,585 (GRCm39) |
A559S |
probably damaging |
Het |
Vps45 |
G |
A |
3: 95,926,969 (GRCm39) |
P526L |
probably benign |
Het |
Zfp687 |
A |
G |
3: 94,916,457 (GRCm39) |
V855A |
probably damaging |
Het |
Zfp771 |
T |
A |
7: 126,853,448 (GRCm39) |
C205S |
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 |
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 |
|
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 |
|
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'- AGAAGTGCATGCAACTACACG -3'
(R):5'- GGCTTGTCTTGGAATAGGCC -3'
Sequencing Primer
(F):5'- GTAAGCATACACTGAACCAAGAATAG -3'
(R):5'- CTTGGAATAGGCCCATGAGTTAAACC -3'
|
Posted On |
2016-10-06 |