Incidental Mutation 'R4726:Ints3'
ID |
358445 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ints3
|
Ensembl Gene |
ENSMUSG00000027933 |
Gene Name |
integrator complex subunit 3 |
Synonyms |
|
MMRRC Submission |
041989-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.969)
|
Stock # |
R4726 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
90298695-90340929 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 90301084 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 840
(S840P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071422
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029541]
[ENSMUST00000029542]
[ENSMUST00000071488]
[ENSMUST00000196530]
|
AlphaFold |
Q7TPD0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029541
|
SMART Domains |
Protein: ENSMUSP00000029541 Gene: ENSMUSG00000027932
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
low complexity region
|
38 |
56 |
N/A |
INTRINSIC |
Pfam:AMP-binding
|
138 |
535 |
9.2e-62 |
PFAM |
Pfam:AMP-binding_C
|
543 |
619 |
9.6e-9 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029542
AA Change: S840P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000029542 Gene: ENSMUSG00000027933 AA Change: S840P
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: S840P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000071422 Gene: ENSMUSG00000027933 AA Change: S840P
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 |
noncoding transcript
Transcript: ENSMUST00000127064
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132041
|
SMART Domains |
Protein: ENSMUSP00000122599 Gene: ENSMUSG00000027932
Domain | Start | End | E-Value | Type |
low complexity region
|
40 |
64 |
N/A |
INTRINSIC |
low complexity region
|
68 |
89 |
N/A |
INTRINSIC |
low complexity region
|
91 |
106 |
N/A |
INTRINSIC |
Pfam:AMP-binding
|
147 |
501 |
5.3e-50 |
PFAM |
Pfam:AMP-binding_C
|
509 |
585 |
2.9e-8 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144572
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000196530
AA Change: S840P
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000143196 Gene: ENSMUSG00000027933 AA Change: S840P
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: ENSMUST00000199992
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153978
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198776
|
Meta Mutation Damage Score |
0.1968 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
99% (74/75) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930583I09Rik |
T |
C |
17: 65,141,448 (GRCm39) |
S52G |
probably null |
Het |
Abcc2 |
T |
C |
19: 43,820,553 (GRCm39) |
S1351P |
probably benign |
Het |
Acp2 |
T |
A |
2: 91,034,622 (GRCm39) |
L87Q |
probably damaging |
Het |
Adgrl3 |
C |
A |
5: 81,794,425 (GRCm39) |
T550K |
possibly damaging |
Het |
Amotl2 |
A |
G |
9: 102,601,018 (GRCm39) |
R329G |
probably benign |
Het |
Angel1 |
T |
C |
12: 86,768,649 (GRCm39) |
N278S |
probably damaging |
Het |
Ankrd12 |
A |
C |
17: 66,277,319 (GRCm39) |
M1985R |
probably damaging |
Het |
Apob |
T |
A |
12: 8,040,267 (GRCm39) |
F535I |
probably damaging |
Het |
Art3 |
A |
G |
5: 92,559,002 (GRCm39) |
K313R |
probably benign |
Het |
Asxl2 |
C |
T |
12: 3,551,872 (GRCm39) |
H1205Y |
possibly damaging |
Het |
Bsph1 |
A |
T |
7: 13,206,920 (GRCm39) |
M99L |
probably benign |
Het |
Ccdc153 |
T |
C |
9: 44,154,963 (GRCm39) |
|
probably null |
Het |
Cdh16 |
A |
T |
8: 105,342,664 (GRCm39) |
M28K |
probably damaging |
Het |
Cdhr2 |
T |
C |
13: 54,866,352 (GRCm39) |
F353L |
probably damaging |
Het |
Chrna2 |
G |
T |
14: 66,386,345 (GRCm39) |
V164L |
possibly damaging |
Het |
Cip2a |
A |
G |
16: 48,834,433 (GRCm39) |
T672A |
probably benign |
Het |
Ckmt1 |
T |
C |
2: 121,191,712 (GRCm39) |
|
probably null |
Het |
Col25a1 |
A |
T |
3: 130,313,430 (GRCm39) |
E280V |
possibly damaging |
Het |
Dnajc12 |
A |
G |
10: 63,233,087 (GRCm39) |
D76G |
probably damaging |
Het |
Drd3 |
G |
T |
16: 43,643,164 (GRCm39) |
E467* |
probably null |
Het |
Ecpas |
A |
G |
4: 58,844,191 (GRCm39) |
V525A |
probably damaging |
Het |
Ehbp1l1 |
C |
A |
19: 5,769,204 (GRCm39) |
A700S |
possibly damaging |
Het |
Gab1 |
T |
C |
8: 81,515,682 (GRCm39) |
D212G |
possibly damaging |
Het |
Gm26996 |
A |
G |
6: 130,557,134 (GRCm39) |
|
noncoding transcript |
Het |
Gm28113 |
A |
G |
15: 75,198,577 (GRCm39) |
|
noncoding transcript |
Het |
Has3 |
T |
C |
8: 107,604,718 (GRCm39) |
F308S |
probably damaging |
Het |
Ifit3b |
T |
A |
19: 34,588,860 (GRCm39) |
I12N |
probably benign |
Het |
Ifna4 |
C |
A |
4: 88,760,519 (GRCm39) |
T141K |
probably benign |
Het |
Itih4 |
T |
C |
14: 30,611,792 (GRCm39) |
V132A |
probably damaging |
Het |
Itprid2 |
T |
A |
2: 79,493,101 (GRCm39) |
I1216N |
probably damaging |
Het |
Kcnj10 |
A |
G |
1: 172,196,639 (GRCm39) |
Y51C |
probably damaging |
Het |
Klk1b24 |
G |
A |
7: 43,839,820 (GRCm39) |
V60I |
probably damaging |
Het |
Klra14-ps |
C |
A |
6: 130,134,626 (GRCm39) |
|
noncoding transcript |
Het |
Krt6b |
A |
G |
15: 101,586,520 (GRCm39) |
I323T |
probably damaging |
Het |
Lilra5 |
A |
C |
7: 4,240,957 (GRCm39) |
Q17P |
probably benign |
Het |
Lrrc7 |
GAAGTTGTTTGGAGATTCTTATCTTA |
GA |
3: 158,024,045 (GRCm39) |
|
probably benign |
Het |
Map3k4 |
T |
C |
17: 12,451,851 (GRCm39) |
N1479S |
possibly damaging |
Het |
Mbd3l2 |
A |
T |
9: 18,356,256 (GRCm39) |
I194F |
probably damaging |
Het |
Megf10 |
T |
C |
18: 57,420,864 (GRCm39) |
I834T |
probably benign |
Het |
Mterf4 |
G |
A |
1: 93,229,471 (GRCm39) |
T251M |
probably damaging |
Het |
Mtmr3 |
A |
T |
11: 4,457,634 (GRCm39) |
D170E |
probably damaging |
Het |
Myom3 |
C |
T |
4: 135,534,586 (GRCm39) |
|
probably null |
Het |
Nemp1 |
G |
A |
10: 127,530,462 (GRCm39) |
V305I |
probably benign |
Het |
Nlrp1b |
G |
T |
11: 71,072,232 (GRCm39) |
T537K |
probably benign |
Het |
Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
Or5b3 |
T |
A |
19: 13,388,469 (GRCm39) |
C179S |
probably damaging |
Het |
Or6c206 |
A |
G |
10: 129,097,045 (GRCm39) |
T72A |
possibly damaging |
Het |
Or8k28 |
A |
G |
2: 86,286,580 (GRCm39) |
F12L |
possibly damaging |
Het |
Pias1 |
A |
G |
9: 62,827,771 (GRCm39) |
V212A |
probably damaging |
Het |
Plscr1 |
T |
A |
9: 92,145,221 (GRCm39) |
V77D |
probably damaging |
Het |
Plxna1 |
T |
C |
6: 89,299,798 (GRCm39) |
N1657S |
probably damaging |
Het |
Ptprf |
A |
G |
4: 118,069,414 (GRCm39) |
V1551A |
possibly damaging |
Het |
Ptprn2 |
C |
A |
12: 117,211,393 (GRCm39) |
Y857* |
probably null |
Het |
Puf60 |
A |
T |
15: 75,944,183 (GRCm39) |
|
probably null |
Het |
Rnf20 |
C |
T |
4: 49,654,579 (GRCm39) |
R879* |
probably null |
Het |
Robo1 |
G |
A |
16: 72,768,931 (GRCm39) |
A499T |
probably damaging |
Het |
Slc39a14 |
A |
G |
14: 70,551,048 (GRCm39) |
|
probably null |
Het |
Smarcad1 |
A |
T |
6: 65,052,025 (GRCm39) |
H6L |
probably damaging |
Het |
Smg5 |
A |
G |
3: 88,243,758 (GRCm39) |
S10G |
possibly damaging |
Het |
Stk39 |
T |
A |
2: 68,093,647 (GRCm39) |
D488V |
probably damaging |
Het |
Stx19 |
A |
G |
16: 62,642,495 (GRCm39) |
N104D |
probably benign |
Het |
Tcstv1b |
A |
T |
13: 120,635,173 (GRCm39) |
S152C |
possibly damaging |
Het |
Tmem222 |
T |
C |
4: 133,004,975 (GRCm39) |
M21V |
probably benign |
Het |
Trim43b |
T |
A |
9: 88,971,538 (GRCm39) |
N205I |
possibly damaging |
Het |
Ubr4 |
C |
A |
4: 139,209,890 (GRCm39) |
H5017N |
possibly damaging |
Het |
Vmn2r93 |
A |
G |
17: 18,536,960 (GRCm39) |
T548A |
probably damaging |
Het |
Vps8 |
G |
A |
16: 21,267,154 (GRCm39) |
|
probably null |
Het |
Wasl |
A |
G |
6: 24,633,110 (GRCm39) |
V176A |
probably benign |
Het |
Wbp2nl |
T |
A |
15: 82,190,255 (GRCm39) |
V61E |
probably damaging |
Het |
Zfp959 |
T |
A |
17: 56,205,260 (GRCm39) |
|
probably null |
Het |
Zmiz1 |
T |
C |
14: 25,644,098 (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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGTCAGGGTGATGAAGGC -3'
(R):5'- CTGAACAGAGAACCAGGCCTAG -3'
Sequencing Primer
(F):5'- ATGAAGGCAGCTGTGGTCC -3'
(R):5'- GCCTAGCAGCTGAAGACTG -3'
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Posted On |
2015-11-11 |