Incidental Mutation 'R7332:Ints3'
| ID |
569281 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints3
|
| Ensembl Gene |
ENSMUSG00000027933 |
| Gene Name |
integrator complex subunit 3 |
| Synonyms |
|
| MMRRC Submission |
045425-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R7332 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
90298695-90340929 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90322819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 137
(Q137R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029542
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029542]
[ENSMUST00000071488]
[ENSMUST00000196530]
|
| AlphaFold |
Q7TPD0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029542
AA Change: Q137R
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000029542
Gene: ENSMUSG00000027933
AA Change: Q137R
| 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: Q137R
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000071422
Gene: ENSMUSG00000027933
AA Change: Q137R
| 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: Q137R
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143196
Gene: ENSMUSG00000027933
AA Change: Q137R
| 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 |
|
| Meta Mutation Damage Score |
0.0642 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (68/68) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1l2 |
A |
G |
19: 56,906,553 (GRCm39) |
S449P |
probably damaging |
Het |
| Atp6v0c |
A |
C |
17: 24,388,198 (GRCm39) |
S21A |
probably benign |
Het |
| Cacna1e |
T |
C |
1: 154,601,547 (GRCm39) |
Y40C |
possibly damaging |
Het |
| Cdadc1 |
A |
G |
14: 59,813,213 (GRCm39) |
I398T |
possibly damaging |
Het |
| Cfap44 |
T |
A |
16: 44,250,191 (GRCm39) |
D756E |
probably damaging |
Het |
| Clcnkb |
A |
T |
4: 141,141,243 (GRCm39) |
L104Q |
probably null |
Het |
| Clk1 |
G |
A |
1: 58,451,853 (GRCm39) |
H421Y |
probably benign |
Het |
| Cmpk2 |
A |
T |
12: 26,528,061 (GRCm39) |
D426V |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,229,061 (GRCm39) |
L2009S |
possibly damaging |
Het |
| Col5a2 |
C |
G |
1: 45,419,325 (GRCm39) |
D1252H |
probably damaging |
Het |
| Coro1b |
A |
G |
19: 4,199,356 (GRCm39) |
K5R |
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,313,360 (GRCm39) |
T1346A |
|
Het |
| Csrp1 |
G |
T |
1: 135,667,149 (GRCm39) |
W4L |
probably benign |
Het |
| Cyp3a25 |
A |
G |
5: 145,929,817 (GRCm39) |
I184T |
probably damaging |
Het |
| Egfl7 |
C |
A |
2: 26,480,725 (GRCm39) |
R128S |
probably benign |
Het |
| Fggy |
A |
T |
4: 95,511,719 (GRCm39) |
N157I |
probably damaging |
Het |
| Gldc |
A |
T |
19: 30,093,926 (GRCm39) |
L697Q |
probably damaging |
Het |
| Gm4952 |
T |
A |
19: 12,604,373 (GRCm39) |
Y262N |
probably damaging |
Het |
| Gsap |
T |
A |
5: 21,495,119 (GRCm39) |
M821K |
probably benign |
Het |
| Hps1 |
T |
C |
19: 42,766,351 (GRCm39) |
|
probably null |
Het |
| Hsbp1l1 |
T |
C |
18: 80,280,038 (GRCm39) |
|
probably benign |
Het |
| Igfbp7 |
G |
A |
5: 77,499,803 (GRCm39) |
T220I |
probably damaging |
Het |
| Kcna6 |
A |
G |
6: 126,716,292 (GRCm39) |
F199S |
possibly damaging |
Het |
| Kirrel1 |
T |
C |
3: 86,995,705 (GRCm39) |
I410V |
probably benign |
Het |
| Llgl2 |
T |
C |
11: 115,739,125 (GRCm39) |
V332A |
probably damaging |
Het |
| Lrrc27 |
A |
G |
7: 138,822,661 (GRCm39) |
I517M |
probably damaging |
Het |
| Mas1 |
T |
C |
17: 13,061,106 (GRCm39) |
T106A |
probably benign |
Het |
| Mast4 |
T |
A |
13: 102,887,932 (GRCm39) |
Y1159F |
possibly damaging |
Het |
| Mmp2 |
A |
G |
8: 93,576,780 (GRCm39) |
D601G |
probably damaging |
Het |
| Mycbp2 |
T |
A |
14: 103,434,793 (GRCm39) |
I2217F |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,393,889 (GRCm39) |
S2891P |
probably damaging |
Het |
| Naip6 |
A |
G |
13: 100,437,209 (GRCm39) |
V438A |
possibly damaging |
Het |
| Or4g17 |
A |
G |
2: 111,209,738 (GRCm39) |
H131R |
not run |
Het |
| Pdf |
T |
C |
8: 107,775,173 (GRCm39) |
R20G |
probably benign |
Het |
| Pfdn2 |
T |
C |
1: 171,184,162 (GRCm39) |
L47P |
probably damaging |
Het |
| Pik3c2g |
C |
A |
6: 139,841,981 (GRCm39) |
N795K |
|
Het |
| Ppip5k1 |
A |
T |
2: 121,142,450 (GRCm39) |
V1333D |
probably damaging |
Het |
| Pramel51 |
T |
C |
12: 88,143,187 (GRCm39) |
T339A |
possibly damaging |
Het |
| Prss44 |
A |
T |
9: 110,644,530 (GRCm39) |
I213F |
probably damaging |
Het |
| Rbm47 |
A |
G |
5: 66,183,557 (GRCm39) |
Y349H |
probably damaging |
Het |
| Rcl1 |
A |
T |
19: 29,108,096 (GRCm39) |
T253S |
probably benign |
Het |
| Rdh1 |
A |
G |
10: 127,595,754 (GRCm39) |
|
probably benign |
Het |
| Scn7a |
C |
T |
2: 66,522,898 (GRCm39) |
W935* |
probably null |
Het |
| Sec24b |
T |
C |
3: 129,835,042 (GRCm39) |
N52S |
probably benign |
Het |
| Serpinb5 |
A |
T |
1: 106,800,091 (GRCm39) |
I94L |
probably benign |
Het |
| Setx |
T |
C |
2: 29,036,638 (GRCm39) |
V1041A |
probably benign |
Het |
| Slco3a1 |
G |
A |
7: 73,968,232 (GRCm39) |
A496V |
possibly damaging |
Het |
| Spag5 |
T |
A |
11: 78,204,205 (GRCm39) |
L486* |
probably null |
Het |
| Spink5 |
T |
C |
18: 44,115,317 (GRCm39) |
I183T |
probably damaging |
Het |
| Srd5a1 |
T |
C |
13: 69,759,173 (GRCm39) |
Y65C |
probably benign |
Het |
| Ssh2 |
T |
A |
11: 77,344,349 (GRCm39) |
I778N |
possibly damaging |
Het |
| Sstr1 |
C |
T |
12: 58,260,172 (GRCm39) |
S265L |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 76,014,529 (GRCm39) |
|
probably null |
Het |
| Tctn1 |
A |
T |
5: 122,399,547 (GRCm39) |
D92E |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,503,644 (GRCm39) |
I940M |
probably damaging |
Het |
| Tmeff2 |
T |
C |
1: 51,018,599 (GRCm39) |
W194R |
unknown |
Het |
| Tomm20 |
T |
C |
8: 127,663,903 (GRCm39) |
T94A |
probably benign |
Het |
| Ucn2 |
A |
G |
9: 108,815,532 (GRCm39) |
N98S |
probably benign |
Het |
| V1rd19 |
A |
T |
7: 23,702,743 (GRCm39) |
I70L |
probably benign |
Het |
| Vmn1r18 |
A |
G |
6: 57,367,503 (GRCm39) |
L17P |
probably benign |
Het |
| Vmn2r61 |
A |
G |
7: 41,909,534 (GRCm39) |
T20A |
probably benign |
Het |
| Wdr59 |
G |
A |
8: 112,220,986 (GRCm39) |
T182I |
|
Het |
| Zfp40 |
A |
T |
17: 23,395,155 (GRCm39) |
C477* |
probably null |
Het |
| Zfp68 |
A |
G |
5: 138,604,830 (GRCm39) |
S498P |
possibly damaging |
Het |
| Zfp729b |
T |
C |
13: 67,757,755 (GRCm39) |
|
probably null |
Het |
| Zfp846 |
T |
G |
9: 20,505,521 (GRCm39) |
N460K |
probably benign |
Het |
| Zim1 |
T |
C |
7: 6,680,352 (GRCm39) |
Y437C |
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 |
|
|
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'- CCAGCCTCTCTTTAGAAGGTTC -3'
(R):5'- GAACACAGTGCTCCATTGCC -3'
Sequencing Primer
(F):5'- AGGTTCACCTCCAGCCTAC -3'
(R):5'- CCTCGTGTTTCTATGTAAGAGGAAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation