Incidental Mutation 'IGL02814:Ints1'
ID |
360714 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ints1
|
Ensembl Gene |
ENSMUSG00000029547 |
Gene Name |
integrator complex subunit 1 |
Synonyms |
1110015K06Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02814
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
139737037-139761429 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 139758146 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 244
(E244K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072406
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072607]
[ENSMUST00000196864]
[ENSMUST00000200393]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072607
AA Change: E244K
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000072406 Gene: ENSMUSG00000029547 AA Change: E244K
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
27 |
N/A |
INTRINSIC |
low complexity region
|
88 |
102 |
N/A |
INTRINSIC |
Pfam:DUF3677
|
379 |
459 |
6.4e-37 |
PFAM |
low complexity region
|
854 |
865 |
N/A |
INTRINSIC |
low complexity region
|
870 |
876 |
N/A |
INTRINSIC |
low complexity region
|
946 |
962 |
N/A |
INTRINSIC |
low complexity region
|
965 |
988 |
N/A |
INTRINSIC |
low complexity region
|
1034 |
1045 |
N/A |
INTRINSIC |
low complexity region
|
1058 |
1069 |
N/A |
INTRINSIC |
low complexity region
|
1347 |
1361 |
N/A |
INTRINSIC |
low complexity region
|
1405 |
1418 |
N/A |
INTRINSIC |
low complexity region
|
1615 |
1624 |
N/A |
INTRINSIC |
low complexity region
|
1763 |
1776 |
N/A |
INTRINSIC |
low complexity region
|
1840 |
1855 |
N/A |
INTRINSIC |
low complexity region
|
2062 |
2076 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184414
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196319
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196379
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196864
|
SMART Domains |
Protein: ENSMUSP00000142362 Gene: ENSMUSG00000029547
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
75 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197156
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200339
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200393
AA Change: E244K
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000143789 Gene: ENSMUSG00000029547 AA Change: E244K
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
27 |
N/A |
INTRINSIC |
low complexity region
|
88 |
102 |
N/A |
INTRINSIC |
Pfam:DUF3677
|
379 |
459 |
6.4e-37 |
PFAM |
low complexity region
|
854 |
865 |
N/A |
INTRINSIC |
low complexity region
|
870 |
876 |
N/A |
INTRINSIC |
low complexity region
|
946 |
962 |
N/A |
INTRINSIC |
low complexity region
|
965 |
988 |
N/A |
INTRINSIC |
low complexity region
|
1034 |
1045 |
N/A |
INTRINSIC |
low complexity region
|
1058 |
1069 |
N/A |
INTRINSIC |
low complexity region
|
1347 |
1361 |
N/A |
INTRINSIC |
low complexity region
|
1405 |
1418 |
N/A |
INTRINSIC |
low complexity region
|
1615 |
1624 |
N/A |
INTRINSIC |
low complexity region
|
1763 |
1776 |
N/A |
INTRINSIC |
low complexity region
|
1840 |
1855 |
N/A |
INTRINSIC |
low complexity region
|
2062 |
2076 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008] PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage. [provided by MGI curators]
|
Allele List at MGI |
All alleles(10) : Targeted, knock-out(1) Gene trapped(9) |
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
A |
T |
11: 110,045,293 (GRCm39) |
F347I |
possibly damaging |
Het |
Adcy5 |
A |
G |
16: 35,124,019 (GRCm39) |
T1233A |
probably benign |
Het |
Blnk |
C |
T |
19: 40,950,873 (GRCm39) |
D93N |
probably damaging |
Het |
Cadps2 |
T |
C |
6: 23,321,706 (GRCm39) |
E1083G |
probably damaging |
Het |
Capn8 |
C |
A |
1: 182,426,336 (GRCm39) |
L224M |
probably damaging |
Het |
Cdh4 |
A |
T |
2: 179,422,267 (GRCm39) |
E130D |
probably benign |
Het |
Cgn |
G |
A |
3: 94,681,550 (GRCm39) |
T515M |
probably benign |
Het |
Chrna10 |
C |
T |
7: 101,761,469 (GRCm39) |
G374D |
probably benign |
Het |
Chrnb1 |
T |
A |
11: 69,686,506 (GRCm39) |
Y38F |
probably damaging |
Het |
Cyld |
A |
G |
8: 89,471,525 (GRCm39) |
D621G |
probably benign |
Het |
Cyp4f37 |
T |
C |
17: 32,853,645 (GRCm39) |
F443S |
probably benign |
Het |
Dctn1 |
C |
A |
6: 83,166,896 (GRCm39) |
A152E |
probably damaging |
Het |
Eml4 |
T |
A |
17: 83,748,791 (GRCm39) |
Y228* |
probably null |
Het |
Fbln2 |
T |
A |
6: 91,242,839 (GRCm39) |
C846* |
probably null |
Het |
Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
Gart |
T |
C |
16: 91,420,345 (GRCm39) |
S833G |
possibly damaging |
Het |
Gda |
T |
C |
19: 21,405,839 (GRCm39) |
|
probably null |
Het |
Gjb5 |
C |
T |
4: 127,249,355 (GRCm39) |
R263Q |
probably benign |
Het |
Gtf2i |
T |
C |
5: 134,315,558 (GRCm39) |
K193E |
probably damaging |
Het |
H4c14 |
C |
A |
3: 96,170,603 (GRCm39) |
K6N |
probably benign |
Het |
Kat14 |
G |
A |
2: 144,244,383 (GRCm39) |
S412N |
probably benign |
Het |
Kcnn3 |
A |
T |
3: 89,428,482 (GRCm39) |
H236L |
possibly damaging |
Het |
Kif15 |
T |
A |
9: 122,832,705 (GRCm39) |
I1005K |
possibly damaging |
Het |
Klrc1 |
T |
C |
6: 129,655,855 (GRCm39) |
T7A |
possibly damaging |
Het |
Lcp2 |
T |
C |
11: 34,021,033 (GRCm39) |
S130P |
probably damaging |
Het |
Ldha |
T |
A |
7: 46,500,315 (GRCm39) |
Y133* |
probably null |
Het |
Lrp2 |
A |
G |
2: 69,337,080 (GRCm39) |
C1231R |
probably damaging |
Het |
Lrrn1 |
T |
A |
6: 107,544,313 (GRCm39) |
V37D |
probably damaging |
Het |
Mep1a |
T |
A |
17: 43,788,112 (GRCm39) |
H648L |
probably benign |
Het |
Mmp25 |
C |
T |
17: 23,858,736 (GRCm39) |
G272R |
probably damaging |
Het |
Myh15 |
A |
G |
16: 48,965,801 (GRCm39) |
|
probably benign |
Het |
Myl3 |
G |
T |
9: 110,597,059 (GRCm39) |
E140* |
probably null |
Het |
Nlrp4f |
A |
G |
13: 65,332,856 (GRCm39) |
S809P |
probably damaging |
Het |
Nrde2 |
T |
C |
12: 100,110,394 (GRCm39) |
I207M |
probably null |
Het |
Or13a26 |
T |
C |
7: 140,285,046 (GRCm39) |
L294P |
probably damaging |
Het |
Or2y8 |
C |
T |
11: 52,035,637 (GRCm39) |
C240Y |
probably damaging |
Het |
Or5p54 |
T |
C |
7: 107,553,977 (GRCm39) |
I43T |
probably benign |
Het |
Paics |
T |
G |
5: 77,110,320 (GRCm39) |
V245G |
probably damaging |
Het |
Pank1 |
A |
G |
19: 34,818,255 (GRCm39) |
F95L |
probably damaging |
Het |
Pde4dip |
A |
C |
3: 97,674,416 (GRCm39) |
C167G |
probably damaging |
Het |
Picalm |
C |
A |
7: 89,840,957 (GRCm39) |
T542K |
possibly damaging |
Het |
Piezo1 |
A |
G |
8: 123,224,954 (GRCm39) |
Y651H |
probably damaging |
Het |
Pikfyve |
T |
A |
1: 65,289,353 (GRCm39) |
C1208* |
probably null |
Het |
Pkd1l1 |
T |
A |
11: 8,852,582 (GRCm39) |
T634S |
probably benign |
Het |
Rab32 |
T |
C |
10: 10,422,171 (GRCm39) |
T183A |
probably benign |
Het |
Rad18 |
T |
C |
6: 112,621,583 (GRCm39) |
I206V |
possibly damaging |
Het |
Rbm15b |
T |
C |
9: 106,762,975 (GRCm39) |
I398V |
probably benign |
Het |
Rbm28 |
T |
C |
6: 29,159,725 (GRCm39) |
E101G |
probably benign |
Het |
Rsf1 |
T |
C |
7: 97,310,434 (GRCm39) |
L388P |
probably damaging |
Het |
Scnn1g |
A |
G |
7: 121,339,588 (GRCm39) |
Y129C |
probably damaging |
Het |
Slc7a13 |
G |
A |
4: 19,839,387 (GRCm39) |
C330Y |
probably benign |
Het |
Spock1 |
A |
T |
13: 57,735,486 (GRCm39) |
V101E |
probably damaging |
Het |
Sympk |
T |
A |
7: 18,787,198 (GRCm39) |
W1029R |
probably damaging |
Het |
Syne2 |
T |
A |
12: 75,992,150 (GRCm39) |
H2008Q |
possibly damaging |
Het |
Tgs1 |
T |
A |
4: 3,585,719 (GRCm39) |
Y199N |
probably damaging |
Het |
Trim10 |
T |
A |
17: 37,188,228 (GRCm39) |
C481* |
probably null |
Het |
Vmn2r102 |
A |
G |
17: 19,898,170 (GRCm39) |
E395G |
probably damaging |
Het |
Wfs1 |
A |
C |
5: 37,125,013 (GRCm39) |
V626G |
possibly damaging |
Het |
Zfp689 |
A |
G |
7: 127,044,193 (GRCm39) |
S146P |
possibly damaging |
Het |
Zfp786 |
T |
C |
6: 47,796,775 (GRCm39) |
H721R |
probably damaging |
Het |
Zfta |
C |
A |
19: 7,397,787 (GRCm39) |
N111K |
possibly damaging |
Het |
|
Other mutations in Ints1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01116:Ints1
|
APN |
5 |
139,757,437 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01329:Ints1
|
APN |
5 |
139,753,258 (GRCm39) |
splice site |
probably benign |
|
IGL01414:Ints1
|
APN |
5 |
139,744,253 (GRCm39) |
missense |
probably benign |
|
IGL01612:Ints1
|
APN |
5 |
139,742,047 (GRCm39) |
missense |
probably benign |
0.17 |
IGL01726:Ints1
|
APN |
5 |
139,754,166 (GRCm39) |
splice site |
probably benign |
|
IGL01958:Ints1
|
APN |
5 |
139,745,843 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02122:Ints1
|
APN |
5 |
139,750,905 (GRCm39) |
nonsense |
probably null |
|
IGL02149:Ints1
|
APN |
5 |
139,737,715 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02349:Ints1
|
APN |
5 |
139,754,223 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02557:Ints1
|
APN |
5 |
139,757,392 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02815:Ints1
|
APN |
5 |
139,741,037 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02825:Ints1
|
APN |
5 |
139,750,494 (GRCm39) |
missense |
probably benign |
0.32 |
IGL03000:Ints1
|
APN |
5 |
139,752,261 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03164:Ints1
|
APN |
5 |
139,738,490 (GRCm39) |
missense |
probably damaging |
0.99 |
forgiving
|
UTSW |
5 |
139,753,583 (GRCm39) |
missense |
probably damaging |
0.99 |
restrained
|
UTSW |
5 |
139,753,481 (GRCm39) |
missense |
possibly damaging |
0.68 |
A9681:Ints1
|
UTSW |
5 |
139,755,894 (GRCm39) |
missense |
possibly damaging |
0.56 |
R0113:Ints1
|
UTSW |
5 |
139,750,968 (GRCm39) |
missense |
|
|
R0193:Ints1
|
UTSW |
5 |
139,737,485 (GRCm39) |
missense |
probably damaging |
1.00 |
R0372:Ints1
|
UTSW |
5 |
139,758,193 (GRCm39) |
missense |
probably damaging |
1.00 |
R1129:Ints1
|
UTSW |
5 |
139,744,226 (GRCm39) |
missense |
probably benign |
0.00 |
R1290:Ints1
|
UTSW |
5 |
139,757,165 (GRCm39) |
nonsense |
probably null |
|
R1313:Ints1
|
UTSW |
5 |
139,748,661 (GRCm39) |
missense |
probably benign |
|
R1313:Ints1
|
UTSW |
5 |
139,748,661 (GRCm39) |
missense |
probably benign |
|
R1691:Ints1
|
UTSW |
5 |
139,754,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R1708:Ints1
|
UTSW |
5 |
139,748,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R1791:Ints1
|
UTSW |
5 |
139,760,277 (GRCm39) |
missense |
probably benign |
0.04 |
R2066:Ints1
|
UTSW |
5 |
139,753,251 (GRCm39) |
missense |
probably benign |
0.14 |
R2102:Ints1
|
UTSW |
5 |
139,741,754 (GRCm39) |
missense |
possibly damaging |
0.50 |
R2108:Ints1
|
UTSW |
5 |
139,753,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R2238:Ints1
|
UTSW |
5 |
139,750,955 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2426:Ints1
|
UTSW |
5 |
139,757,569 (GRCm39) |
critical splice donor site |
probably null |
|
R2913:Ints1
|
UTSW |
5 |
139,743,668 (GRCm39) |
missense |
possibly damaging |
0.91 |
R3896:Ints1
|
UTSW |
5 |
139,743,399 (GRCm39) |
nonsense |
probably null |
|
R4608:Ints1
|
UTSW |
5 |
139,745,599 (GRCm39) |
missense |
probably benign |
0.13 |
R4658:Ints1
|
UTSW |
5 |
139,760,054 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4797:Ints1
|
UTSW |
5 |
139,757,631 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4887:Ints1
|
UTSW |
5 |
139,756,911 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4944:Ints1
|
UTSW |
5 |
139,743,847 (GRCm39) |
splice site |
probably null |
|
R4956:Ints1
|
UTSW |
5 |
139,742,885 (GRCm39) |
missense |
probably damaging |
1.00 |
R4976:Ints1
|
UTSW |
5 |
139,738,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R5283:Ints1
|
UTSW |
5 |
139,750,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R5354:Ints1
|
UTSW |
5 |
139,752,183 (GRCm39) |
critical splice donor site |
probably null |
|
R5496:Ints1
|
UTSW |
5 |
139,740,953 (GRCm39) |
missense |
probably benign |
0.07 |
R5517:Ints1
|
UTSW |
5 |
139,738,542 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5696:Ints1
|
UTSW |
5 |
139,740,744 (GRCm39) |
missense |
probably benign |
0.00 |
R5766:Ints1
|
UTSW |
5 |
139,757,900 (GRCm39) |
missense |
probably benign |
0.33 |
R6359:Ints1
|
UTSW |
5 |
139,741,972 (GRCm39) |
missense |
probably benign |
0.09 |
R6753:Ints1
|
UTSW |
5 |
139,750,930 (GRCm39) |
missense |
probably damaging |
1.00 |
R6892:Ints1
|
UTSW |
5 |
139,753,583 (GRCm39) |
missense |
probably damaging |
0.99 |
R7009:Ints1
|
UTSW |
5 |
139,754,217 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7047:Ints1
|
UTSW |
5 |
139,744,226 (GRCm39) |
nonsense |
probably null |
|
R7216:Ints1
|
UTSW |
5 |
139,754,739 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7220:Ints1
|
UTSW |
5 |
139,747,828 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7263:Ints1
|
UTSW |
5 |
139,749,834 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7291:Ints1
|
UTSW |
5 |
139,750,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R7319:Ints1
|
UTSW |
5 |
139,746,520 (GRCm39) |
missense |
probably damaging |
1.00 |
R7411:Ints1
|
UTSW |
5 |
139,750,015 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7497:Ints1
|
UTSW |
5 |
139,754,731 (GRCm39) |
missense |
probably damaging |
0.99 |
R7529:Ints1
|
UTSW |
5 |
139,753,481 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7710:Ints1
|
UTSW |
5 |
139,756,840 (GRCm39) |
missense |
probably benign |
0.17 |
R7816:Ints1
|
UTSW |
5 |
139,757,134 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7819:Ints1
|
UTSW |
5 |
139,746,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R7992:Ints1
|
UTSW |
5 |
139,742,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R8260:Ints1
|
UTSW |
5 |
139,750,968 (GRCm39) |
missense |
|
|
R8265:Ints1
|
UTSW |
5 |
139,757,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R8782:Ints1
|
UTSW |
5 |
139,744,952 (GRCm39) |
missense |
probably benign |
0.28 |
R9016:Ints1
|
UTSW |
5 |
139,744,326 (GRCm39) |
missense |
probably benign |
|
R9053:Ints1
|
UTSW |
5 |
139,747,822 (GRCm39) |
missense |
possibly damaging |
0.55 |
R9056:Ints1
|
UTSW |
5 |
139,760,041 (GRCm39) |
critical splice donor site |
probably null |
|
R9080:Ints1
|
UTSW |
5 |
139,739,300 (GRCm39) |
missense |
probably benign |
0.00 |
R9086:Ints1
|
UTSW |
5 |
139,743,947 (GRCm39) |
missense |
probably benign |
|
R9122:Ints1
|
UTSW |
5 |
139,745,930 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9134:Ints1
|
UTSW |
5 |
139,743,351 (GRCm39) |
missense |
probably benign |
|
R9135:Ints1
|
UTSW |
5 |
139,737,701 (GRCm39) |
missense |
possibly damaging |
0.49 |
R9169:Ints1
|
UTSW |
5 |
139,748,586 (GRCm39) |
missense |
probably benign |
|
R9280:Ints1
|
UTSW |
5 |
139,750,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R9458:Ints1
|
UTSW |
5 |
139,743,407 (GRCm39) |
missense |
probably damaging |
1.00 |
R9666:Ints1
|
UTSW |
5 |
139,748,217 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Ints1
|
UTSW |
5 |
139,757,393 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
Posted On |
2015-12-18 |