Incidental Mutation 'R9634:Ints3'
| ID |
725697 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints3
|
| Ensembl Gene |
ENSMUSG00000027933 |
| Gene Name |
integrator complex subunit 3 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R9634 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
90298695-90340929 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90318606 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 210
(T210A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029542
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029542]
[ENSMUST00000071488]
[ENSMUST00000196530]
|
| AlphaFold |
Q7TPD0 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000029542
Gene: ENSMUSG00000027933
AA Change: T210A
| 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: T210A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000071422
Gene: ENSMUSG00000027933
AA Change: T210A
| 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: T210A
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143196
Gene: ENSMUSG00000027933
AA Change: T210A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
C |
A |
11: 84,184,816 (GRCm39) |
D1277E |
probably benign |
Het |
| Anapc7 |
T |
C |
5: 122,560,689 (GRCm39) |
S17P |
probably damaging |
Het |
| Atad2b |
T |
C |
12: 5,060,332 (GRCm39) |
F909S |
probably damaging |
Het |
| Ccnb1 |
G |
A |
13: 100,920,112 (GRCm39) |
A133V |
probably benign |
Het |
| Chd7 |
A |
G |
4: 8,832,499 (GRCm39) |
T1125A |
probably damaging |
Het |
| Cyc1 |
A |
G |
15: 76,227,794 (GRCm39) |
T11A |
probably benign |
Het |
| Ddx59 |
G |
A |
1: 136,347,214 (GRCm39) |
A291T |
probably damaging |
Het |
| Dgkg |
T |
A |
16: 22,338,387 (GRCm39) |
|
probably null |
Het |
| Dock8 |
A |
G |
19: 25,169,585 (GRCm39) |
D1952G |
probably damaging |
Het |
| Dpf3 |
A |
G |
12: 83,378,635 (GRCm39) |
|
probably null |
Het |
| Evi5 |
T |
C |
5: 107,964,663 (GRCm39) |
I340V |
probably benign |
Het |
| Extl3 |
A |
T |
14: 65,314,919 (GRCm39) |
S88T |
probably damaging |
Het |
| Fktn |
A |
G |
4: 53,761,230 (GRCm39) |
H410R |
probably benign |
Het |
| Fyb2 |
A |
T |
4: 104,856,579 (GRCm39) |
K596* |
probably null |
Het |
| Gas2l3 |
C |
T |
10: 89,249,943 (GRCm39) |
A392T |
probably benign |
Het |
| Gbp7 |
T |
A |
3: 142,242,115 (GRCm39) |
V83E |
probably benign |
Het |
| Gja10 |
A |
G |
4: 32,601,877 (GRCm39) |
V169A |
probably damaging |
Het |
| Gnao1 |
A |
G |
8: 94,682,723 (GRCm39) |
H303R |
probably benign |
Het |
| Iars2 |
A |
G |
1: 185,027,727 (GRCm39) |
*734R |
probably null |
Het |
| Il2ra |
C |
T |
2: 11,685,227 (GRCm39) |
R188* |
probably null |
Het |
| Inpp5f |
A |
C |
7: 128,278,515 (GRCm39) |
D435A |
possibly damaging |
Het |
| Itpkc |
A |
G |
7: 26,913,880 (GRCm39) |
I527T |
probably benign |
Het |
| Kcnrg |
CACAACAA |
CACAA |
14: 61,845,009 (GRCm39) |
|
probably benign |
Het |
| Loxl3 |
C |
T |
6: 83,027,835 (GRCm39) |
T749I |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 41,135,951 (GRCm39) |
|
probably null |
Het |
| Ncapg2 |
T |
A |
12: 116,379,077 (GRCm39) |
H190Q |
probably damaging |
Het |
| Nkain2 |
G |
A |
10: 32,766,262 (GRCm39) |
P66L |
unknown |
Het |
| Nubpl |
T |
C |
12: 52,349,494 (GRCm39) |
F242L |
probably benign |
Het |
| Or4f4-ps1 |
T |
C |
2: 111,330,131 (GRCm39) |
V178A |
possibly damaging |
Het |
| Or4x11 |
T |
C |
2: 89,867,907 (GRCm39) |
S215P |
probably damaging |
Het |
| Or8b51 |
A |
G |
9: 38,568,869 (GRCm39) |
I273T |
probably benign |
Het |
| Paip2b |
T |
C |
6: 83,787,023 (GRCm39) |
D71G |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,605,152 (GRCm39) |
E1584G |
probably damaging |
Het |
| Poglut2 |
T |
C |
1: 44,152,196 (GRCm39) |
D271G |
probably damaging |
Het |
| Prkag2 |
A |
G |
5: 25,074,238 (GRCm39) |
I489T |
possibly damaging |
Het |
| Ptpn2 |
C |
T |
18: 67,808,789 (GRCm39) |
|
probably null |
Het |
| Rims3 |
G |
A |
4: 120,748,517 (GRCm39) |
R246H |
possibly damaging |
Het |
| Sorl1 |
T |
G |
9: 41,907,590 (GRCm39) |
T1466P |
probably benign |
Het |
| Tbl3 |
T |
C |
17: 24,926,531 (GRCm39) |
E3G |
probably benign |
Het |
| Tex2 |
A |
G |
11: 106,458,978 (GRCm39) |
S151P |
unknown |
Het |
| Tmem260 |
C |
A |
14: 48,709,816 (GRCm39) |
A123E |
probably damaging |
Het |
| Trim45 |
T |
C |
3: 100,839,306 (GRCm39) |
V736A |
unknown |
Het |
| Vps8 |
T |
C |
16: 21,372,893 (GRCm39) |
L1033P |
probably damaging |
Het |
| Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
| Wwc2 |
GCC |
GCCC |
8: 48,304,959 (GRCm39) |
|
probably null |
Het |
| Ythdc2 |
A |
G |
18: 45,006,037 (GRCm39) |
T1177A |
probably benign |
Het |
| Zfp36l2 |
A |
G |
17: 84,494,056 (GRCm39) |
Y194H |
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 |
|
|
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 |
|
|
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'- CTGGCCCAGAAGCATAAAGG -3'
(R):5'- CATCTGTCTGGTGAGGGAAATTAG -3'
Sequencing Primer
(F):5'- AGCATAAAGGCCACACGG -3'
(R):5'- ACCTGTTAGTCAACTCATAGTCGGG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation