Incidental Mutation 'R7992:Ints1'
ID |
651802 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ints1
|
Ensembl Gene |
ENSMUSG00000029547 |
Gene Name |
integrator complex subunit 1 |
Synonyms |
1110015K06Rik |
MMRRC Submission |
046033-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7992 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
139737037-139761429 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 139742282 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Histidine
at position 1722
(D1722H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143789
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072607]
[ENSMUST00000197187]
[ENSMUST00000200393]
|
AlphaFold |
no structure available at present |
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000072406 Gene: ENSMUSG00000029547 AA Change: D1720H
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: ENSMUST00000197187
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000200393
AA Change: D1722H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143789 Gene: ENSMUSG00000029547 AA Change: D1722H
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: 99.5%
- 20x: 98.4%
|
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 |
Adamts12 |
A |
G |
15: 11,310,904 (GRCm39) |
T1054A |
probably benign |
Het |
Ankfn1 |
A |
C |
11: 89,413,859 (GRCm39) |
I172S |
probably benign |
Het |
Ano3 |
T |
C |
2: 110,605,367 (GRCm39) |
T280A |
possibly damaging |
Het |
Arhgef37 |
T |
A |
18: 61,638,827 (GRCm39) |
E307D |
probably benign |
Het |
Bptf |
C |
T |
11: 107,001,709 (GRCm39) |
V468I |
probably benign |
Het |
Ces1b |
A |
G |
8: 93,786,987 (GRCm39) |
V464A |
probably benign |
Het |
Cmc2 |
A |
T |
8: 117,616,446 (GRCm39) |
L93* |
probably null |
Het |
Ddx60 |
A |
G |
8: 62,407,569 (GRCm39) |
D360G |
probably benign |
Het |
Dock6 |
C |
T |
9: 21,744,135 (GRCm39) |
|
probably null |
Het |
Erp44 |
A |
G |
4: 48,218,136 (GRCm39) |
F178L |
possibly damaging |
Het |
Fam47e |
T |
C |
5: 92,722,541 (GRCm39) |
V79A |
probably damaging |
Het |
Fancd2 |
T |
C |
6: 113,542,165 (GRCm39) |
S770P |
probably damaging |
Het |
Fcgr1 |
A |
G |
3: 96,191,897 (GRCm39) |
F304L |
probably benign |
Het |
Fkbp15 |
T |
C |
4: 62,230,538 (GRCm39) |
E725G |
probably damaging |
Het |
Fn1 |
T |
C |
1: 71,638,825 (GRCm39) |
I1971V |
probably benign |
Het |
Gdf6 |
A |
G |
4: 9,844,652 (GRCm39) |
S59G |
probably benign |
Het |
Gm5773 |
T |
A |
3: 93,680,373 (GRCm39) |
I15N |
possibly damaging |
Het |
Hesx1 |
T |
C |
14: 26,723,379 (GRCm39) |
S70P |
probably benign |
Het |
Htr5a |
T |
C |
5: 28,055,995 (GRCm39) |
S329P |
probably damaging |
Het |
Htt |
T |
C |
5: 34,987,225 (GRCm39) |
|
probably null |
Het |
Iba57 |
T |
A |
11: 59,052,288 (GRCm39) |
M118L |
unknown |
Het |
Ifi35 |
C |
T |
11: 101,348,307 (GRCm39) |
Q112* |
probably null |
Het |
Il12rb1 |
G |
T |
8: 71,265,233 (GRCm39) |
R183L |
possibly damaging |
Het |
Il12rb2 |
A |
T |
6: 67,328,311 (GRCm39) |
Y306* |
probably null |
Het |
Ipp |
T |
G |
4: 116,381,453 (GRCm39) |
D317E |
probably damaging |
Het |
Kif26a |
A |
G |
12: 112,142,481 (GRCm39) |
T912A |
probably benign |
Het |
Klhdc7a |
A |
G |
4: 139,693,045 (GRCm39) |
V634A |
probably damaging |
Het |
Klhl40 |
C |
A |
9: 121,607,748 (GRCm39) |
P303T |
probably damaging |
Het |
Krt13 |
T |
C |
11: 100,008,478 (GRCm39) |
T420A |
unknown |
Het |
Lpcat2 |
T |
C |
8: 93,582,186 (GRCm39) |
F35S |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,289,753 (GRCm39) |
V5470A |
probably damaging |
Het |
Mta2 |
T |
C |
19: 8,925,151 (GRCm39) |
|
probably null |
Het |
Muc16 |
G |
T |
9: 18,567,725 (GRCm39) |
T1598K |
unknown |
Het |
Nckap5 |
A |
T |
1: 125,954,547 (GRCm39) |
N668K |
probably damaging |
Het |
Nlrp4a |
A |
T |
7: 26,150,070 (GRCm39) |
D559V |
possibly damaging |
Het |
Npat |
T |
C |
9: 53,474,167 (GRCm39) |
L653P |
probably benign |
Het |
Oog1 |
G |
A |
12: 87,655,252 (GRCm39) |
V467I |
possibly damaging |
Het |
Or4c15b |
A |
G |
2: 89,113,082 (GRCm39) |
S132P |
probably benign |
Het |
Or4f56 |
C |
T |
2: 111,703,280 (GRCm39) |
A307T |
probably benign |
Het |
Pdzph1 |
T |
A |
17: 59,186,105 (GRCm39) |
M1229L |
possibly damaging |
Het |
Piwil4 |
T |
A |
9: 14,614,445 (GRCm39) |
Q106L |
|
Het |
Plekha5 |
C |
A |
6: 140,472,267 (GRCm39) |
R65S |
probably damaging |
Het |
Ptger4 |
T |
C |
15: 5,264,381 (GRCm39) |
Y425C |
probably damaging |
Het |
Pus7 |
A |
G |
5: 23,951,465 (GRCm39) |
M534T |
possibly damaging |
Het |
Rtkn2 |
C |
T |
10: 67,875,923 (GRCm39) |
P411S |
probably damaging |
Het |
Scand1 |
G |
A |
2: 156,154,232 (GRCm39) |
P13S |
unknown |
Het |
Scaper |
T |
C |
9: 55,765,438 (GRCm39) |
H550R |
probably benign |
Het |
Senp5 |
T |
A |
16: 31,796,514 (GRCm39) |
K617I |
probably damaging |
Het |
Shq1 |
A |
G |
6: 100,613,972 (GRCm39) |
L282P |
probably damaging |
Het |
Slc12a6 |
T |
A |
2: 112,166,256 (GRCm39) |
C227S |
probably damaging |
Het |
Slc5a9 |
T |
A |
4: 111,747,729 (GRCm39) |
T284S |
probably benign |
Het |
Stat2 |
T |
A |
10: 128,120,831 (GRCm39) |
F579L |
probably damaging |
Het |
Tes |
G |
T |
6: 17,096,242 (GRCm39) |
A77S |
possibly damaging |
Het |
Themis |
A |
T |
10: 28,637,342 (GRCm39) |
T149S |
probably benign |
Het |
Tmprss6 |
C |
T |
15: 78,326,664 (GRCm39) |
R653H |
probably benign |
Het |
Trmt6 |
G |
A |
2: 132,652,959 (GRCm39) |
L107F |
probably damaging |
Het |
Trpm6 |
T |
C |
19: 18,792,714 (GRCm39) |
C713R |
probably damaging |
Het |
Trpm7 |
T |
C |
2: 126,667,454 (GRCm39) |
I820V |
probably benign |
Het |
Usp45 |
G |
A |
4: 21,824,543 (GRCm39) |
A432T |
probably benign |
Het |
Xab2 |
A |
T |
8: 3,668,622 (GRCm39) |
V82E |
possibly damaging |
Het |
Zfp938 |
T |
A |
10: 82,061,777 (GRCm39) |
Y281F |
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 |
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 |
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'- TTCTGCAATCAGGAGGCTGC -3'
(R):5'- AAAGAGCTGTGGCAAGCTGC -3'
Sequencing Primer
(F):5'- CAATCAGGAGGCTGCAGGTC -3'
(R):5'- TTGACTGTGACAGGCCCATAG -3'
|
Posted On |
2020-09-15 |