Incidental Mutation 'IGL01958:Ints1'
| ID |
181472 |
| 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 # |
IGL01958
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
139737037-139761429 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 139745843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 1342
(R1342Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072406
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072607]
[ENSMUST00000200393]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072607
AA Change: R1342Q
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000072406
Gene: ENSMUSG00000029547
AA Change: R1342Q
| 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: ENSMUST00000196319
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197727
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000200393
AA Change: R1344Q
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143789
Gene: ENSMUSG00000029547
AA Change: R1344Q
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4732465J04Rik |
T |
C |
10: 95,629,659 (GRCm39) |
I29T |
probably damaging |
Het |
| Agps |
G |
A |
2: 75,740,045 (GRCm39) |
|
probably null |
Het |
| Agxt2 |
A |
G |
15: 10,393,794 (GRCm39) |
|
probably null |
Het |
| Ahnak |
T |
C |
19: 8,992,273 (GRCm39) |
V4519A |
possibly damaging |
Het |
| Aktip |
T |
C |
8: 91,852,853 (GRCm39) |
D159G |
probably damaging |
Het |
| Ankrd44 |
T |
C |
1: 54,806,125 (GRCm39) |
I94V |
probably damaging |
Het |
| Asph |
T |
C |
4: 9,474,904 (GRCm39) |
E674G |
possibly damaging |
Het |
| Atat1 |
T |
A |
17: 36,219,735 (GRCm39) |
|
probably benign |
Het |
| Ccar1 |
G |
A |
10: 62,626,714 (GRCm39) |
A20V |
possibly damaging |
Het |
| Cdc26 |
T |
C |
4: 62,321,001 (GRCm39) |
D14G |
probably damaging |
Het |
| Cdh15 |
T |
C |
8: 123,586,089 (GRCm39) |
F156S |
probably damaging |
Het |
| Dctn1 |
A |
G |
6: 83,168,326 (GRCm39) |
T525A |
possibly damaging |
Het |
| Dnah8 |
T |
G |
17: 31,074,869 (GRCm39) |
|
probably benign |
Het |
| Dnajc10 |
T |
A |
2: 80,151,648 (GRCm39) |
|
probably benign |
Het |
| Dtl |
C |
A |
1: 191,300,489 (GRCm39) |
W125L |
probably damaging |
Het |
| Fam3c |
G |
A |
6: 22,318,954 (GRCm39) |
T149I |
probably damaging |
Het |
| Fgd6 |
A |
G |
10: 93,974,170 (GRCm39) |
T1304A |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm6578 |
A |
G |
6: 12,099,766 (GRCm39) |
|
noncoding transcript |
Het |
| Gnai1 |
A |
G |
5: 18,478,568 (GRCm39) |
F199S |
probably damaging |
Het |
| Grb7 |
T |
A |
11: 98,345,480 (GRCm39) |
V480D |
probably damaging |
Het |
| Hdc |
A |
G |
2: 126,436,452 (GRCm39) |
L473P |
possibly damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,479,622 (GRCm39) |
N4614S |
probably benign |
Het |
| Il20ra |
A |
G |
10: 19,634,791 (GRCm39) |
D344G |
probably benign |
Het |
| Itga9 |
T |
A |
9: 118,465,562 (GRCm39) |
|
probably benign |
Het |
| Kat14 |
T |
C |
2: 144,236,285 (GRCm39) |
L339P |
probably damaging |
Het |
| Klhl22 |
A |
G |
16: 17,594,326 (GRCm39) |
I152V |
probably benign |
Het |
| Krtap5-2 |
C |
A |
7: 141,729,459 (GRCm39) |
G74* |
probably null |
Het |
| Lrrc59 |
C |
A |
11: 94,529,354 (GRCm39) |
|
probably null |
Het |
| Map3k13 |
A |
G |
16: 21,710,873 (GRCm39) |
Q52R |
probably benign |
Het |
| Mb21d2 |
A |
G |
16: 28,646,495 (GRCm39) |
|
probably benign |
Het |
| Mphosph9 |
A |
T |
5: 124,463,053 (GRCm39) |
|
probably benign |
Het |
| Myrf |
A |
G |
19: 10,187,742 (GRCm39) |
|
probably benign |
Het |
| Nek11 |
T |
C |
9: 105,177,502 (GRCm39) |
T250A |
probably benign |
Het |
| Nek5 |
A |
T |
8: 22,586,842 (GRCm39) |
V323E |
probably benign |
Het |
| Nfasc |
A |
T |
1: 132,536,176 (GRCm39) |
C586* |
probably null |
Het |
| Nup210l |
T |
A |
3: 90,111,231 (GRCm39) |
L1711Q |
possibly damaging |
Het |
| Parp8 |
T |
G |
13: 117,013,108 (GRCm39) |
K644Q |
probably benign |
Het |
| Pcnt |
G |
T |
10: 76,269,513 (GRCm39) |
Q252K |
probably damaging |
Het |
| Pianp |
A |
G |
6: 124,977,646 (GRCm39) |
T181A |
possibly damaging |
Het |
| Pkd1 |
T |
C |
17: 24,799,298 (GRCm39) |
V2839A |
probably damaging |
Het |
| Poli |
C |
T |
18: 70,659,657 (GRCm39) |
R58H |
possibly damaging |
Het |
| Ptk7 |
T |
C |
17: 46,890,353 (GRCm39) |
D447G |
probably benign |
Het |
| Rapgef5 |
A |
G |
12: 117,694,386 (GRCm39) |
I637V |
probably benign |
Het |
| Rasip1 |
A |
T |
7: 45,286,188 (GRCm39) |
R804* |
probably null |
Het |
| Relt |
A |
G |
7: 100,500,350 (GRCm39) |
V113A |
probably benign |
Het |
| Rnf215 |
G |
T |
11: 4,090,317 (GRCm39) |
C345F |
probably damaging |
Het |
| Scart2 |
T |
C |
7: 139,854,040 (GRCm39) |
C348R |
probably damaging |
Het |
| Scn2a |
A |
G |
2: 65,532,173 (GRCm39) |
D595G |
probably damaging |
Het |
| Serpina3k |
G |
A |
12: 104,307,316 (GRCm39) |
V183M |
probably damaging |
Het |
| Snapc4 |
T |
C |
2: 26,256,452 (GRCm39) |
|
probably benign |
Het |
| Sparcl1 |
A |
T |
5: 104,240,406 (GRCm39) |
D339E |
probably benign |
Het |
| Tg |
T |
C |
15: 66,631,335 (GRCm39) |
F535L |
probably benign |
Het |
| Zbtb45 |
C |
A |
7: 12,740,203 (GRCm39) |
A471S |
probably benign |
Het |
| Zfp106 |
T |
A |
2: 120,365,288 (GRCm39) |
K373M |
probably benign |
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 |
|
|
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 |
|
IGL02814:Ints1
|
APN |
5 |
139,758,146 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
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 |
2014-05-07 |
Incidental Mutation