Incidental Mutation 'IGL02516:Ints3'
| ID |
296777 |
| 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 # |
IGL02516
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
90298695-90340929 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90310415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 495
(F495S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071422
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029542]
[ENSMUST00000071488]
[ENSMUST00000196530]
|
| AlphaFold |
Q7TPD0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029542
AA Change: F495S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029542
Gene: ENSMUSG00000027933
AA Change: F495S
| 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: F495S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000071422
Gene: ENSMUSG00000027933
AA Change: F495S
| 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: ENSMUST00000196530
AA Change: F495S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000143196
Gene: ENSMUSG00000027933
AA Change: F495S
| 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
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
C |
T |
8: 25,388,612 (GRCm39) |
S364N |
probably damaging |
Het |
| Ano8 |
C |
T |
8: 71,937,721 (GRCm39) |
G47D |
probably damaging |
Het |
| App |
T |
C |
16: 84,752,305 (GRCm39) |
T743A |
probably damaging |
Het |
| Armc3 |
A |
G |
2: 19,305,317 (GRCm39) |
K692E |
possibly damaging |
Het |
| Arpp21 |
T |
C |
9: 112,014,729 (GRCm39) |
N25S |
probably damaging |
Het |
| Avpr1b |
G |
A |
1: 131,528,367 (GRCm39) |
V297I |
probably damaging |
Het |
| Bpi |
A |
G |
2: 158,109,651 (GRCm39) |
I200V |
possibly damaging |
Het |
| Cacna2d4 |
C |
T |
6: 119,248,831 (GRCm39) |
|
probably benign |
Het |
| Cbarp |
A |
G |
10: 79,971,379 (GRCm39) |
Y149H |
probably damaging |
Het |
| Ccdc85c |
T |
C |
12: 108,241,160 (GRCm39) |
N78S |
unknown |
Het |
| Cdcp1 |
G |
T |
9: 123,002,702 (GRCm39) |
L790M |
possibly damaging |
Het |
| Cdkn2d |
T |
A |
9: 21,200,439 (GRCm39) |
I111F |
probably benign |
Het |
| Ctsr |
A |
G |
13: 61,310,992 (GRCm39) |
V18A |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,844,161 (GRCm39) |
D60G |
probably damaging |
Het |
| Daw1 |
A |
C |
1: 83,186,949 (GRCm39) |
N253T |
probably benign |
Het |
| Dcaf7 |
T |
A |
11: 105,942,698 (GRCm39) |
I215N |
probably damaging |
Het |
| Ddc |
A |
C |
11: 11,779,125 (GRCm39) |
L333R |
probably damaging |
Het |
| Dennd1a |
A |
G |
2: 37,742,406 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
C |
A |
5: 124,864,395 (GRCm39) |
T2200K |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,713,881 (GRCm39) |
Y1883C |
probably damaging |
Het |
| Ecpas |
T |
C |
4: 58,877,102 (GRCm39) |
E111G |
probably damaging |
Het |
| Eif2ak4 |
T |
A |
2: 118,266,735 (GRCm39) |
I752N |
probably damaging |
Het |
| Fcho2 |
A |
G |
13: 98,866,720 (GRCm39) |
I740T |
probably benign |
Het |
| Flnc |
A |
G |
6: 29,450,840 (GRCm39) |
D1496G |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,676,482 (GRCm39) |
V583A |
possibly damaging |
Het |
| Greb1l |
A |
C |
18: 10,537,064 (GRCm39) |
T1010P |
probably benign |
Het |
| Hs3st6 |
T |
C |
17: 24,977,105 (GRCm39) |
L195P |
probably damaging |
Het |
| Hyi |
A |
G |
4: 118,219,680 (GRCm39) |
E239G |
probably damaging |
Het |
| Ighv2-3 |
G |
T |
12: 113,574,818 (GRCm39) |
Y112* |
probably null |
Het |
| Itih2 |
T |
A |
2: 10,102,728 (GRCm39) |
H802L |
probably benign |
Het |
| Jag2 |
C |
T |
12: 112,874,186 (GRCm39) |
V990M |
probably damaging |
Het |
| Kat6b |
T |
C |
14: 21,659,936 (GRCm39) |
|
probably benign |
Het |
| Krtap4-8 |
C |
T |
11: 99,671,168 (GRCm39) |
|
probably benign |
Het |
| Lhx4 |
A |
G |
1: 155,578,003 (GRCm39) |
S380P |
probably damaging |
Het |
| Morn3 |
C |
A |
5: 123,175,363 (GRCm39) |
E33* |
probably null |
Het |
| Mug2 |
C |
T |
6: 122,047,802 (GRCm39) |
A771V |
probably damaging |
Het |
| N4bp3 |
A |
T |
11: 51,535,161 (GRCm39) |
S343T |
probably benign |
Het |
| Nlrp1a |
T |
C |
11: 71,005,286 (GRCm39) |
N643S |
probably damaging |
Het |
| Or2c1 |
A |
C |
16: 3,657,200 (GRCm39) |
D121A |
probably damaging |
Het |
| Or2h1b |
T |
A |
17: 37,462,163 (GRCm39) |
R79S |
possibly damaging |
Het |
| Or6c8 |
T |
A |
10: 128,915,662 (GRCm39) |
M57L |
possibly damaging |
Het |
| Phc3 |
A |
G |
3: 31,002,942 (GRCm39) |
F192S |
probably damaging |
Het |
| Pigq |
C |
T |
17: 26,156,221 (GRCm39) |
R69H |
probably benign |
Het |
| Plk3 |
A |
G |
4: 116,989,186 (GRCm39) |
C222R |
probably damaging |
Het |
| Pomt2 |
T |
C |
12: 87,166,420 (GRCm39) |
T490A |
probably benign |
Het |
| Prss29 |
T |
C |
17: 25,539,875 (GRCm39) |
I91T |
probably damaging |
Het |
| Ralgapb |
A |
T |
2: 158,307,735 (GRCm39) |
|
probably benign |
Het |
| Sccpdh |
G |
A |
1: 179,509,256 (GRCm39) |
G75D |
probably damaging |
Het |
| Serpine2 |
T |
C |
1: 79,772,714 (GRCm39) |
|
probably benign |
Het |
| Sfr1 |
T |
G |
19: 47,721,429 (GRCm39) |
|
probably null |
Het |
| Slc22a23 |
C |
A |
13: 34,387,938 (GRCm39) |
C386F |
probably benign |
Het |
| Slc22a27 |
T |
C |
19: 7,842,176 (GRCm39) |
K433R |
probably damaging |
Het |
| Slc39a12 |
T |
C |
2: 14,405,146 (GRCm39) |
L246P |
probably damaging |
Het |
| Slc4a11 |
A |
G |
2: 130,533,313 (GRCm39) |
I191T |
possibly damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,398,238 (GRCm39) |
N668D |
probably damaging |
Het |
| Supt16 |
A |
T |
14: 52,421,421 (GRCm39) |
D41E |
possibly damaging |
Het |
| Tamalin |
G |
A |
15: 101,126,932 (GRCm39) |
V137I |
probably damaging |
Het |
| Ugt2b37 |
A |
G |
5: 87,388,741 (GRCm39) |
S491P |
probably damaging |
Het |
| Urb1 |
G |
T |
16: 90,569,583 (GRCm39) |
T1381N |
possibly damaging |
Het |
| Usp8 |
A |
G |
2: 126,584,094 (GRCm39) |
I423M |
probably benign |
Het |
| Vmn1r191 |
T |
A |
13: 22,363,710 (GRCm39) |
I15F |
probably benign |
Het |
| Zbtb5 |
A |
T |
4: 44,993,798 (GRCm39) |
Y529N |
probably damaging |
Het |
| Zfp541 |
T |
A |
7: 15,816,918 (GRCm39) |
|
probably null |
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 |
|
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 |
2015-04-16 |
Incidental Mutation