Incidental Mutation 'R7497:Ints1'
ID |
581126 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ints1
|
Ensembl Gene |
ENSMUSG00000029547 |
Gene Name |
integrator complex subunit 1 |
Synonyms |
1110015K06Rik |
MMRRC Submission |
045570-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7497 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
139737037-139761429 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 139754731 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 603
(V603M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143789
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072607]
[ENSMUST00000196864]
[ENSMUST00000200393]
|
AlphaFold |
no structure available at present |
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000072406 Gene: ENSMUSG00000029547 AA Change: V601M
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 |
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 |
probably damaging
Transcript: ENSMUST00000200393
AA Change: V603M
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000143789 Gene: ENSMUSG00000029547 AA Change: V603M
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (70/70) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd2 |
T |
A |
15: 91,075,379 (GRCm39) |
I145F |
probably benign |
Het |
Acvr2b |
T |
A |
9: 119,262,352 (GRCm39) |
V455E |
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
Agap2 |
T |
C |
10: 126,926,834 (GRCm39) |
V977A |
probably damaging |
Het |
Aph1b |
A |
C |
9: 66,701,401 (GRCm39) |
S79A |
probably damaging |
Het |
Atm |
G |
A |
9: 53,423,191 (GRCm39) |
S645L |
probably benign |
Het |
Cdh11 |
T |
C |
8: 103,400,456 (GRCm39) |
R171G |
probably benign |
Het |
Ces2f |
T |
A |
8: 105,681,330 (GRCm39) |
D556E |
probably benign |
Het |
Cfap210 |
A |
C |
2: 69,588,792 (GRCm39) |
N439K |
probably benign |
Het |
Cyp26b1 |
C |
A |
6: 84,553,964 (GRCm39) |
V218L |
possibly damaging |
Het |
Diaph1 |
T |
C |
18: 38,028,353 (GRCm39) |
|
probably null |
Het |
Dock1 |
A |
G |
7: 134,367,003 (GRCm39) |
I482V |
probably benign |
Het |
Dok4 |
A |
T |
8: 95,594,053 (GRCm39) |
D47E |
possibly damaging |
Het |
Dqx1 |
T |
A |
6: 83,036,028 (GRCm39) |
L120Q |
probably damaging |
Het |
Duxf3 |
A |
T |
10: 58,066,558 (GRCm39) |
V157E |
probably damaging |
Het |
Efcab3 |
T |
C |
11: 104,653,516 (GRCm39) |
|
probably null |
Het |
Eif2a |
C |
A |
3: 58,456,102 (GRCm39) |
P367Q |
probably damaging |
Het |
Elp2 |
C |
T |
18: 24,744,985 (GRCm39) |
R102C |
probably damaging |
Het |
Erich2 |
T |
C |
2: 70,364,666 (GRCm39) |
S347P |
probably damaging |
Het |
Fgfr3 |
GGACCTCTCCGTG |
GG |
5: 33,892,766 (GRCm39) |
|
probably null |
Het |
Flacc1 |
T |
A |
1: 58,717,467 (GRCm39) |
D148V |
probably damaging |
Het |
Gadl1 |
A |
T |
9: 115,903,155 (GRCm39) |
I495L |
probably benign |
Het |
Gcnt4 |
A |
G |
13: 97,083,468 (GRCm39) |
T255A |
possibly damaging |
Het |
Gm10972 |
A |
G |
3: 94,550,887 (GRCm39) |
K21E |
unknown |
Het |
Gm57859 |
T |
A |
11: 113,583,223 (GRCm39) |
W517R |
probably damaging |
Het |
Gm7361 |
C |
A |
5: 26,466,188 (GRCm39) |
H183Q |
probably benign |
Het |
Gp2 |
C |
T |
7: 119,053,829 (GRCm39) |
C44Y |
probably damaging |
Het |
Hcar2 |
C |
T |
5: 124,003,249 (GRCm39) |
V85I |
probably benign |
Het |
Hira |
T |
C |
16: 18,770,829 (GRCm39) |
V822A |
probably damaging |
Het |
Ighv1-5 |
T |
A |
12: 114,477,156 (GRCm39) |
T49S |
probably damaging |
Het |
Kdm2a |
A |
C |
19: 4,374,404 (GRCm39) |
L909R |
probably damaging |
Het |
Klkb1 |
T |
A |
8: 45,747,827 (GRCm39) |
|
probably benign |
Het |
Krit1 |
A |
G |
5: 3,862,349 (GRCm39) |
H168R |
possibly damaging |
Het |
Map3k21 |
A |
T |
8: 126,654,340 (GRCm39) |
E386D |
probably damaging |
Het |
Muc16 |
C |
T |
9: 18,556,385 (GRCm39) |
E3303K |
unknown |
Het |
Muc5b |
T |
G |
7: 141,415,250 (GRCm39) |
V2732G |
possibly damaging |
Het |
Myo5a |
T |
C |
9: 75,104,983 (GRCm39) |
L189P |
|
Het |
Nlrc5 |
T |
C |
8: 95,248,598 (GRCm39) |
L1740S |
probably damaging |
Het |
Nolc1 |
A |
G |
19: 46,071,257 (GRCm39) |
K402R |
probably benign |
Het |
Or4b1b |
T |
A |
2: 90,112,098 (GRCm39) |
T274S |
possibly damaging |
Het |
Or4k15 |
T |
A |
14: 50,364,952 (GRCm39) |
L306Q |
probably benign |
Het |
Or52s19 |
T |
C |
7: 103,008,219 (GRCm39) |
M61V |
probably damaging |
Het |
Or8u8 |
T |
C |
2: 86,012,417 (GRCm39) |
I13V |
probably benign |
Het |
Pnma8b |
A |
G |
7: 16,678,874 (GRCm39) |
|
probably benign |
Het |
Pnpt1 |
A |
T |
11: 29,080,860 (GRCm39) |
M35L |
probably benign |
Het |
Postn |
A |
G |
3: 54,270,091 (GRCm39) |
K57E |
probably damaging |
Het |
Ppp1r9a |
A |
C |
6: 4,905,775 (GRCm39) |
D110A |
probably damaging |
Het |
Pptc7 |
G |
A |
5: 122,422,942 (GRCm39) |
V71M |
possibly damaging |
Het |
Prdm11 |
T |
A |
2: 92,843,052 (GRCm39) |
I136F |
possibly damaging |
Het |
Rfc1 |
A |
G |
5: 65,436,841 (GRCm39) |
L613P |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,560,818 (GRCm39) |
D2981G |
probably benign |
Het |
Sbf2 |
C |
A |
7: 110,213,923 (GRCm39) |
E16* |
probably null |
Het |
Scara3 |
T |
C |
14: 66,168,651 (GRCm39) |
E322G |
probably damaging |
Het |
Sema5b |
T |
A |
16: 35,481,700 (GRCm39) |
C893S |
probably damaging |
Het |
Setdb1 |
T |
C |
3: 95,249,139 (GRCm39) |
D323G |
probably damaging |
Het |
Slc19a3 |
T |
C |
1: 82,991,649 (GRCm39) |
Y453C |
probably damaging |
Het |
Snx5 |
T |
C |
2: 144,099,894 (GRCm39) |
K137E |
probably damaging |
Het |
Taar8c |
G |
A |
10: 23,977,116 (GRCm39) |
T232I |
probably benign |
Het |
Taok2 |
G |
A |
7: 126,474,050 (GRCm39) |
T352I |
probably damaging |
Het |
Ttc3 |
C |
A |
16: 94,219,541 (GRCm39) |
R489S |
possibly damaging |
Het |
Usp12 |
A |
T |
5: 146,689,264 (GRCm39) |
|
probably null |
Het |
Usp16 |
T |
A |
16: 87,263,174 (GRCm39) |
C125* |
probably null |
Het |
Vmn2r106 |
C |
T |
17: 20,488,201 (GRCm39) |
E733K |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,876,843 (GRCm39) |
I2832K |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,747,761 (GRCm39) |
Y18C |
probably damaging |
Het |
Zfp160 |
T |
A |
17: 21,246,455 (GRCm39) |
I335K |
probably benign |
Het |
Zfp788 |
A |
T |
7: 41,298,275 (GRCm39) |
I304F |
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 |
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 |
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'- AGGCATGCGGACAATGATTG -3'
(R):5'- GGTTTTCTAGAAGCAGCGGTCC -3'
Sequencing Primer
(F):5'- CATGCGGACAATGATTGCCTTG -3'
(R):5'- AAGCAGCGGTCCCCTCC -3'
|
Posted On |
2019-10-17 |