Incidental Mutation 'R9240:Ints3'
| ID |
700669 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints3
|
| Ensembl Gene |
ENSMUSG00000027933 |
| Gene Name |
integrator complex subunit 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R9240 (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 90310410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 497
(S497G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029542
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029542]
[ENSMUST00000071488]
[ENSMUST00000196530]
|
| AlphaFold |
Q7TPD0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029542
AA Change: S497G
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000029542
Gene: ENSMUSG00000027933
AA Change: S497G
| 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: S497G
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000071422
Gene: ENSMUSG00000027933
AA Change: S497G
| 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: S497G
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143196
Gene: ENSMUSG00000027933
AA Change: S497G
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.6%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl1 |
A |
G |
8: 46,966,406 (GRCm39) |
I187V |
probably benign |
Het |
| Adam7 |
C |
A |
14: 68,747,208 (GRCm39) |
V584L |
probably benign |
Het |
| Arsg |
T |
A |
11: 109,463,093 (GRCm39) |
V451E |
probably benign |
Het |
| Btbd8 |
A |
G |
5: 107,600,034 (GRCm39) |
D175G |
probably benign |
Het |
| Cacnb3 |
C |
T |
15: 98,540,486 (GRCm39) |
P338L |
probably benign |
Het |
| Cars1 |
G |
T |
7: 143,138,533 (GRCm39) |
P218Q |
probably benign |
Het |
| Ccdc180 |
T |
C |
4: 45,917,566 (GRCm39) |
|
probably null |
Het |
| Cdh23 |
C |
T |
10: 60,215,044 (GRCm39) |
D1431N |
probably benign |
Het |
| Cenpf |
A |
T |
1: 189,389,167 (GRCm39) |
V1555D |
probably benign |
Het |
| Creb3l2 |
T |
C |
6: 37,311,506 (GRCm39) |
N428D |
possibly damaging |
Het |
| Crebbp |
A |
T |
16: 3,917,537 (GRCm39) |
|
probably null |
Het |
| Cstf1 |
C |
A |
2: 172,217,669 (GRCm39) |
P94Q |
probably damaging |
Het |
| Dis3l |
A |
G |
9: 64,217,447 (GRCm39) |
|
probably null |
Het |
| Dlc1 |
A |
T |
8: 37,052,005 (GRCm39) |
D124E |
probably benign |
Het |
| Dpysl3 |
C |
T |
18: 43,487,867 (GRCm39) |
V159I |
probably benign |
Het |
| Eea1 |
T |
G |
10: 95,776,824 (GRCm39) |
I5S |
probably benign |
Het |
| F7 |
A |
T |
8: 13,085,173 (GRCm39) |
T400S |
probably damaging |
Het |
| Fbxo38 |
C |
A |
18: 62,651,632 (GRCm39) |
E558* |
probably null |
Het |
| Fcgr2b |
C |
T |
1: 170,797,042 (GRCm39) |
|
probably null |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Flt1 |
T |
C |
5: 147,618,676 (GRCm39) |
N220D |
probably benign |
Het |
| Fzd9 |
A |
G |
5: 135,278,812 (GRCm39) |
Y358H |
probably damaging |
Het |
| Gcc2 |
C |
T |
10: 58,106,398 (GRCm39) |
Q545* |
probably null |
Het |
| Gkn3 |
T |
C |
6: 87,365,789 (GRCm39) |
N10S |
probably benign |
Het |
| Gls |
C |
G |
1: 52,207,553 (GRCm39) |
V604L |
probably benign |
Het |
| Gtf2i |
T |
A |
5: 134,292,619 (GRCm39) |
Q375L |
probably benign |
Het |
| Hells |
A |
G |
19: 38,935,289 (GRCm39) |
M320V |
possibly damaging |
Het |
| Iqub |
C |
A |
6: 24,505,622 (GRCm39) |
L95F |
probably benign |
Het |
| Mat1a |
G |
A |
14: 40,827,573 (GRCm39) |
C9Y |
probably benign |
Het |
| Mfsd4b5 |
A |
G |
10: 39,851,099 (GRCm39) |
L103P |
probably damaging |
Het |
| Ms4a14 |
T |
C |
19: 11,281,864 (GRCm39) |
I231M |
possibly damaging |
Het |
| Muc16 |
T |
C |
9: 18,449,309 (GRCm39) |
T7580A |
unknown |
Het |
| Myb |
A |
T |
10: 21,016,500 (GRCm39) |
L670Q |
probably damaging |
Het |
| Nisch |
A |
G |
14: 30,906,988 (GRCm39) |
L236P |
unknown |
Het |
| Or5d38 |
A |
C |
2: 87,955,231 (GRCm39) |
F33V |
probably benign |
Het |
| Plscr4 |
A |
T |
9: 92,366,934 (GRCm39) |
M183L |
probably benign |
Het |
| Polr1a |
T |
A |
6: 71,940,661 (GRCm39) |
C998* |
probably null |
Het |
| Prokr2 |
A |
T |
2: 132,223,377 (GRCm39) |
V55E |
possibly damaging |
Het |
| Prr12 |
A |
T |
7: 44,684,075 (GRCm39) |
V1655E |
probably damaging |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,119 (GRCm39) |
|
probably benign |
Het |
| Rspo1 |
C |
T |
4: 124,885,132 (GRCm39) |
L3F |
probably benign |
Het |
| Rtn4rl1 |
C |
A |
11: 75,156,082 (GRCm39) |
D171E |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,743,313 (GRCm39) |
F3895L |
probably damaging |
Het |
| Scn8a |
G |
T |
15: 100,915,068 (GRCm39) |
G1211* |
probably null |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Smarcd3 |
T |
A |
5: 24,801,831 (GRCm39) |
M103L |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,739,031 (GRCm39) |
S3458T |
probably benign |
Het |
| Smg6 |
C |
T |
11: 74,825,884 (GRCm39) |
R738W |
probably damaging |
Het |
| Spef2 |
G |
A |
15: 9,578,401 (GRCm39) |
Q1708* |
probably null |
Het |
| Taf2 |
A |
T |
15: 54,926,464 (GRCm39) |
V162E |
probably null |
Het |
| Tbc1d23 |
A |
T |
16: 57,032,748 (GRCm39) |
N154K |
possibly damaging |
Het |
| Tbx3 |
A |
G |
5: 119,818,960 (GRCm39) |
S532G |
probably benign |
Het |
| Tedc1 |
T |
C |
12: 113,121,310 (GRCm39) |
I177T |
probably benign |
Het |
| Tnrc6b |
G |
C |
15: 80,764,262 (GRCm39) |
G588A |
probably damaging |
Het |
| Top2a |
T |
A |
11: 98,901,368 (GRCm39) |
K519* |
probably null |
Het |
| Trim47 |
T |
A |
11: 115,999,148 (GRCm39) |
M243L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,865 (GRCm39) |
|
probably null |
Het |
| Uggt1 |
T |
C |
1: 36,221,696 (GRCm39) |
E624G |
possibly damaging |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn2r9 |
A |
G |
5: 108,996,099 (GRCm39) |
V183A |
possibly damaging |
Het |
| Zfp212 |
T |
A |
6: 47,906,032 (GRCm39) |
V197E |
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 |
|
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 |
|
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'- AGTCAAGTCTGGCAGTTGGC -3'
(R):5'- CCTGTTGACTCTGAAGGGTCTG -3'
Sequencing Primer
(F):5'- CAAGTCTGGCAGTTGGCTGAAATC -3'
(R):5'- TCTGAAGGTGGCAGGCAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation