Incidental Mutation 'IGL02349:Ints1'
| ID |
289433 |
| 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 # |
IGL02349
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
139737037-139761429 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 139754223 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 650
(P650S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143789
(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: P648S
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000072406
Gene: ENSMUSG00000029547
AA Change: P648S
| 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 damaging
Transcript: ENSMUST00000200393
AA Change: P650S
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143789
Gene: ENSMUSG00000029547
AA Change: P650S
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
A |
G |
5: 24,611,462 (GRCm39) |
I484V |
probably benign |
Het |
| Acly |
C |
T |
11: 100,410,505 (GRCm39) |
E158K |
probably benign |
Het |
| Akap3 |
T |
A |
6: 126,837,226 (GRCm39) |
D3E |
probably benign |
Het |
| Alg8 |
A |
G |
7: 97,029,101 (GRCm39) |
N152S |
possibly damaging |
Het |
| Ano7 |
A |
G |
1: 93,319,212 (GRCm39) |
T323A |
probably benign |
Het |
| Bmp1 |
T |
C |
14: 70,744,989 (GRCm39) |
Y252C |
possibly damaging |
Het |
| Cacnb3 |
A |
T |
15: 98,538,842 (GRCm39) |
K159* |
probably null |
Het |
| Capns2 |
T |
A |
8: 93,628,690 (GRCm39) |
V193D |
probably benign |
Het |
| Cct2 |
A |
G |
10: 116,889,044 (GRCm39) |
I48T |
probably benign |
Het |
| Cep152 |
A |
G |
2: 125,436,876 (GRCm39) |
S555P |
probably damaging |
Het |
| Col5a3 |
T |
C |
9: 20,683,657 (GRCm39) |
E1533G |
unknown |
Het |
| Cyp17a1 |
A |
G |
19: 46,655,936 (GRCm39) |
L451P |
probably damaging |
Het |
| Dgcr8 |
T |
C |
16: 18,098,170 (GRCm39) |
E407G |
possibly damaging |
Het |
| Dhx57 |
T |
A |
17: 80,563,000 (GRCm39) |
N876Y |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,138,663 (GRCm39) |
L235* |
probably null |
Het |
| Fgfr2 |
A |
G |
7: 129,844,336 (GRCm39) |
Y50H |
probably damaging |
Het |
| Gars1 |
T |
A |
6: 55,025,049 (GRCm39) |
|
probably benign |
Het |
| Gfpt2 |
A |
T |
11: 49,698,530 (GRCm39) |
I42F |
probably benign |
Het |
| Glcci1 |
A |
G |
6: 8,558,581 (GRCm39) |
K35E |
probably damaging |
Het |
| Gpatch1 |
T |
A |
7: 35,006,680 (GRCm39) |
M163L |
probably damaging |
Het |
| Gpr132 |
T |
C |
12: 112,816,475 (GRCm39) |
Y117C |
probably damaging |
Het |
| Itga2b |
T |
C |
11: 102,352,189 (GRCm39) |
D464G |
probably damaging |
Het |
| Kansl2 |
C |
A |
15: 98,427,327 (GRCm39) |
G185C |
probably damaging |
Het |
| Kat6b |
T |
A |
14: 21,687,661 (GRCm39) |
M570K |
probably damaging |
Het |
| Macir |
A |
G |
1: 97,573,777 (GRCm39) |
L96P |
probably damaging |
Het |
| Map3k19 |
T |
A |
1: 127,751,506 (GRCm39) |
D615V |
possibly damaging |
Het |
| Map3k7cl |
A |
G |
16: 87,352,901 (GRCm39) |
|
probably benign |
Het |
| Msto1 |
A |
C |
3: 88,818,205 (GRCm39) |
S360R |
possibly damaging |
Het |
| Myo15b |
C |
A |
11: 115,753,931 (GRCm39) |
|
probably benign |
Het |
| Nhlrc2 |
T |
C |
19: 56,580,151 (GRCm39) |
V428A |
possibly damaging |
Het |
| Or13a28 |
T |
C |
7: 140,218,384 (GRCm39) |
F257L |
probably benign |
Het |
| Or1j19 |
A |
C |
2: 36,677,058 (GRCm39) |
T174P |
possibly damaging |
Het |
| Or51a39 |
G |
A |
7: 102,363,333 (GRCm39) |
R96C |
probably damaging |
Het |
| Or51f2 |
A |
T |
7: 102,527,116 (GRCm39) |
Y263F |
probably benign |
Het |
| Or5p51 |
A |
G |
7: 107,444,812 (GRCm39) |
S43P |
probably benign |
Het |
| Or8b12 |
T |
A |
9: 37,657,502 (GRCm39) |
M24K |
probably benign |
Het |
| Pcm1 |
G |
T |
8: 41,741,192 (GRCm39) |
|
probably null |
Het |
| Plekhg3 |
A |
T |
12: 76,609,074 (GRCm39) |
N149I |
probably damaging |
Het |
| Rbp3 |
C |
A |
14: 33,677,676 (GRCm39) |
H541Q |
probably damaging |
Het |
| Rgp1 |
T |
C |
4: 43,581,236 (GRCm39) |
|
probably null |
Het |
| Scyl2 |
A |
T |
10: 89,493,800 (GRCm39) |
|
probably benign |
Het |
| Tas2r144 |
A |
C |
6: 42,193,010 (GRCm39) |
H250P |
probably benign |
Het |
| Tmppe |
T |
C |
9: 114,234,268 (GRCm39) |
V189A |
probably benign |
Het |
| Trp53bp1 |
G |
A |
2: 121,029,555 (GRCm39) |
S1875L |
probably damaging |
Het |
| Txnl4a |
T |
A |
18: 80,261,944 (GRCm39) |
L60H |
probably damaging |
Het |
| Upp2 |
A |
G |
2: 58,667,898 (GRCm39) |
D217G |
probably benign |
Het |
| Vmn2r74 |
A |
G |
7: 85,601,724 (GRCm39) |
L638P |
probably damaging |
Het |
| Vnn1 |
A |
G |
10: 23,774,401 (GRCm39) |
N148S |
possibly damaging |
Het |
| Xrcc1 |
C |
T |
7: 24,266,467 (GRCm39) |
Q241* |
probably null |
Het |
| Zfp990 |
A |
G |
4: 145,257,447 (GRCm39) |
|
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 |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation