Incidental Mutation 'R7220:Ints1'
ID |
561728 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ints1
|
Ensembl Gene |
ENSMUSG00000029547 |
Gene Name |
integrator complex subunit 1 |
Synonyms |
1110015K06Rik |
MMRRC Submission |
045292-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7220 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
139737037-139761429 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 139747828 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 1193
(I1193N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143789
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072607]
[ENSMUST00000200393]
|
AlphaFold |
no structure available at present |
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000072406 Gene: ENSMUSG00000029547 AA Change: I1191N
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 |
possibly damaging
Transcript: ENSMUST00000200393
AA Change: I1193N
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000143789 Gene: ENSMUSG00000029547 AA Change: I1193N
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 |
|
Meta Mutation Damage Score |
0.7874 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (75/75) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5031439G07Rik |
A |
T |
15: 84,837,337 (GRCm39) |
H325Q |
probably damaging |
Het |
Aasdh |
T |
C |
5: 77,049,772 (GRCm39) |
I75V |
probably benign |
Het |
Abca14 |
G |
A |
7: 119,826,667 (GRCm39) |
D438N |
possibly damaging |
Het |
Abca8a |
T |
A |
11: 109,980,793 (GRCm39) |
I82F |
probably benign |
Het |
Abca8b |
G |
T |
11: 109,872,543 (GRCm39) |
N19K |
probably damaging |
Het |
Acan |
A |
G |
7: 78,757,896 (GRCm39) |
N506S |
|
Het |
Alox12e |
C |
A |
11: 70,206,731 (GRCm39) |
R652L |
probably benign |
Het |
Atad3a |
A |
G |
4: 155,838,498 (GRCm39) |
V173A |
probably benign |
Het |
Atl3 |
A |
G |
19: 7,506,433 (GRCm39) |
K326R |
probably null |
Het |
Atm |
G |
T |
9: 53,423,217 (GRCm39) |
C636* |
probably null |
Het |
Atp2c2 |
G |
A |
8: 120,472,300 (GRCm39) |
M451I |
probably benign |
Het |
Best1 |
A |
T |
19: 9,969,479 (GRCm39) |
M193K |
probably benign |
Het |
Bmper |
G |
T |
9: 23,310,651 (GRCm39) |
G362C |
probably damaging |
Het |
Brd4 |
T |
A |
17: 32,444,557 (GRCm39) |
Y139F |
unknown |
Het |
Bzw2 |
A |
T |
12: 36,173,950 (GRCm39) |
I108N |
possibly damaging |
Het |
Cbs |
C |
A |
17: 31,838,191 (GRCm39) |
V353L |
probably benign |
Het |
Ceacam20 |
A |
G |
7: 19,701,678 (GRCm39) |
T22A |
probably damaging |
Het |
Ckap2l |
C |
T |
2: 129,117,436 (GRCm39) |
E580K |
probably damaging |
Het |
Ckmt1 |
T |
C |
2: 121,189,374 (GRCm39) |
L15P |
possibly damaging |
Het |
Clec18a |
G |
T |
8: 111,808,204 (GRCm39) |
P66H |
probably benign |
Het |
Cma1 |
G |
T |
14: 56,180,120 (GRCm39) |
T95K |
probably benign |
Het |
Csmd3 |
A |
G |
15: 48,320,994 (GRCm39) |
V272A |
probably damaging |
Het |
Ctnna3 |
A |
T |
10: 64,670,368 (GRCm39) |
E632D |
probably benign |
Het |
Ctsc |
T |
C |
7: 87,946,361 (GRCm39) |
L130P |
probably damaging |
Het |
Frmpd2 |
A |
T |
14: 33,229,432 (GRCm39) |
R339S |
probably damaging |
Het |
Frrs1 |
C |
A |
3: 116,674,425 (GRCm39) |
S69* |
probably null |
Het |
Gcc2 |
A |
T |
10: 58,116,416 (GRCm39) |
E1108D |
probably benign |
Het |
Gkn1 |
A |
T |
6: 87,326,135 (GRCm39) |
|
probably null |
Het |
Gtf2a1 |
A |
T |
12: 91,534,498 (GRCm39) |
M252K |
probably benign |
Het |
H2-Ob |
T |
C |
17: 34,460,234 (GRCm39) |
F115S |
probably damaging |
Het |
Ighv1-53 |
T |
C |
12: 115,122,135 (GRCm39) |
N80S |
probably benign |
Het |
Ighv1-67 |
T |
C |
12: 115,567,666 (GRCm39) |
K82R |
probably benign |
Het |
Kmt2c |
A |
G |
5: 25,549,923 (GRCm39) |
F1353L |
probably damaging |
Het |
Luc7l |
C |
T |
17: 26,472,219 (GRCm39) |
|
probably benign |
Het |
Man1a |
A |
C |
10: 53,796,331 (GRCm39) |
S454A |
possibly damaging |
Het |
Mars2 |
C |
A |
1: 55,277,222 (GRCm39) |
A275D |
probably damaging |
Het |
Nrde2 |
A |
G |
12: 100,097,178 (GRCm39) |
V874A |
probably benign |
Het |
Ociad1 |
A |
G |
5: 73,470,809 (GRCm39) |
T244A |
probably benign |
Het |
Or10j2 |
A |
G |
1: 173,097,811 (GRCm39) |
Y23C |
possibly damaging |
Het |
Or3a10 |
A |
T |
11: 73,935,589 (GRCm39) |
D170E |
possibly damaging |
Het |
Or8c9 |
A |
T |
9: 38,241,046 (GRCm39) |
L51F |
probably damaging |
Het |
Ovca2 |
A |
G |
11: 75,069,501 (GRCm39) |
C41R |
possibly damaging |
Het |
Pacsin2 |
A |
T |
15: 83,269,260 (GRCm39) |
D11E |
probably damaging |
Het |
Pcdh15 |
G |
A |
10: 74,178,441 (GRCm39) |
S566N |
possibly damaging |
Het |
Pde3b |
A |
G |
7: 114,135,297 (GRCm39) |
I1038M |
probably damaging |
Het |
Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
Pkhd1 |
T |
A |
1: 20,593,350 (GRCm39) |
T1588S |
possibly damaging |
Het |
Ppig |
A |
G |
2: 69,580,320 (GRCm39) |
D618G |
unknown |
Het |
Pramel17 |
A |
G |
4: 101,694,565 (GRCm39) |
F106S |
probably benign |
Het |
Prorp |
G |
A |
12: 55,351,200 (GRCm39) |
V170M |
possibly damaging |
Het |
Prss51 |
A |
T |
14: 64,333,444 (GRCm39) |
K18* |
probably null |
Het |
Ptpra |
T |
A |
2: 130,386,417 (GRCm39) |
D622E |
probably damaging |
Het |
Ptprs |
A |
T |
17: 56,725,988 (GRCm39) |
F1431L |
probably benign |
Het |
Pxdn |
A |
G |
12: 30,044,479 (GRCm39) |
I486V |
probably benign |
Het |
Rnpc3 |
G |
A |
3: 113,422,004 (GRCm39) |
A77V |
probably benign |
Het |
Rtl10 |
T |
A |
16: 18,320,026 (GRCm39) |
C85* |
probably null |
Het |
Skint10 |
A |
G |
4: 112,586,170 (GRCm39) |
S149P |
probably benign |
Het |
Slc17a8 |
A |
C |
10: 89,412,275 (GRCm39) |
V570G |
probably benign |
Het |
Slc25a42 |
A |
T |
8: 70,642,148 (GRCm39) |
V98E |
probably damaging |
Het |
Smco2 |
A |
G |
6: 146,760,363 (GRCm39) |
E73G |
probably benign |
Het |
Ss18 |
T |
C |
18: 14,812,477 (GRCm39) |
Y38C |
probably damaging |
Het |
Sspo |
T |
A |
6: 48,453,540 (GRCm39) |
C2909* |
probably null |
Het |
Tbccd1 |
A |
G |
16: 22,652,747 (GRCm39) |
Y125H |
probably benign |
Het |
Tdrd9 |
A |
G |
12: 111,980,888 (GRCm39) |
T446A |
probably damaging |
Het |
Tecta |
G |
T |
9: 42,255,183 (GRCm39) |
Q1672K |
probably benign |
Het |
Tek |
G |
C |
4: 94,692,541 (GRCm39) |
W216C |
probably damaging |
Het |
Timm17a |
C |
T |
1: 135,241,313 (GRCm39) |
|
probably null |
Het |
Tlr4 |
A |
T |
4: 66,758,188 (GRCm39) |
H327L |
probably benign |
Het |
Trim33 |
T |
C |
3: 103,234,109 (GRCm39) |
I449T |
possibly damaging |
Het |
Vmn1r57 |
A |
G |
7: 5,223,559 (GRCm39) |
N28S |
probably null |
Het |
Vmn2r117 |
T |
A |
17: 23,696,177 (GRCm39) |
H410L |
probably damaging |
Het |
Vmn2r16 |
A |
G |
5: 109,508,772 (GRCm39) |
E500G |
probably damaging |
Het |
Wif1 |
A |
G |
10: 120,926,019 (GRCm39) |
N245S |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CACTCTCTTAGGCATAAAGGGAAC -3'
(R):5'- TCTGAGGTGGACTGAAGCAG -3'
Sequencing Primer
(F):5'- AACCTGTACTGACCAGGGGTTTC -3'
(R):5'- CTGAAGCAGGCAGGGCAC -3'
|
Posted On |
2019-06-26 |