Incidental Mutation 'R4944:Ints1'
| ID |
383340 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints1
|
| Ensembl Gene |
ENSMUSG00000029547 |
| Gene Name |
integrator complex subunit 1 |
| Synonyms |
1110015K06Rik |
| MMRRC Submission |
042541-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4944 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
139737037-139761429 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 139743847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143789
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072607]
[ENSMUST00000197187]
[ENSMUST00000200393]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000072607
|
| SMART Domains |
Protein: ENSMUSP00000072406
Gene: ENSMUSG00000029547
| 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 |
noncoding transcript
Transcript: ENSMUST00000197727
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198615
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000200393
|
| SMART Domains |
Protein: ENSMUSP00000143789
Gene: ENSMUSG00000029547
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (67/67) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
G |
A |
5: 8,984,327 (GRCm39) |
|
probably null |
Het |
| Angptl7 |
C |
G |
4: 148,584,534 (GRCm39) |
Q71H |
probably damaging |
Het |
| Arhgap30 |
A |
T |
1: 171,229,822 (GRCm39) |
N176Y |
probably damaging |
Het |
| Armc9 |
T |
A |
1: 86,202,256 (GRCm39) |
S805T |
probably damaging |
Het |
| Atxn1 |
T |
G |
13: 45,720,407 (GRCm39) |
H496P |
probably damaging |
Het |
| Cabin1 |
C |
T |
10: 75,557,197 (GRCm39) |
G1147D |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,575,255 (GRCm39) |
S597P |
probably damaging |
Het |
| Catsperd |
T |
C |
17: 56,969,744 (GRCm39) |
S613P |
probably damaging |
Het |
| Cdh2 |
A |
G |
18: 16,783,466 (GRCm39) |
Y88H |
probably damaging |
Het |
| Cntn1 |
C |
A |
15: 92,126,549 (GRCm39) |
P47Q |
probably damaging |
Het |
| Col11a2 |
T |
C |
17: 34,261,164 (GRCm39) |
L38P |
possibly damaging |
Het |
| Col5a2 |
T |
G |
1: 45,415,855 (GRCm39) |
I1431L |
possibly damaging |
Het |
| Csmd1 |
C |
T |
8: 16,048,772 (GRCm39) |
G2310D |
probably damaging |
Het |
| Dhcr7 |
T |
A |
7: 143,391,528 (GRCm39) |
I39N |
probably damaging |
Het |
| Dnajc13 |
C |
T |
9: 104,044,586 (GRCm39) |
|
probably benign |
Het |
| Drgx |
G |
T |
14: 32,330,206 (GRCm39) |
Q136H |
probably damaging |
Het |
| Folr2 |
T |
C |
7: 101,489,497 (GRCm39) |
|
probably null |
Het |
| Galnt11 |
T |
C |
5: 25,470,336 (GRCm39) |
I595T |
probably damaging |
Het |
| Gp5 |
G |
A |
16: 30,128,326 (GRCm39) |
A116V |
possibly damaging |
Het |
| Gpn3 |
T |
C |
5: 122,520,303 (GRCm39) |
|
probably benign |
Het |
| Gprin3 |
T |
C |
6: 59,331,644 (GRCm39) |
N221S |
probably benign |
Het |
| Hfm1 |
T |
C |
5: 107,022,079 (GRCm39) |
E989G |
possibly damaging |
Het |
| Josd2 |
T |
C |
7: 44,120,592 (GRCm39) |
S110P |
probably damaging |
Het |
| Kat14 |
C |
A |
2: 144,217,873 (GRCm39) |
T123K |
probably damaging |
Het |
| Lamtor1 |
C |
T |
7: 101,558,971 (GRCm39) |
T48I |
probably damaging |
Het |
| Lrrc24 |
A |
G |
15: 76,602,546 (GRCm39) |
L113P |
probably damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,504,286 (GRCm39) |
T2561A |
possibly damaging |
Het |
| Mog |
T |
C |
17: 37,331,433 (GRCm39) |
E89G |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,874,364 (GRCm39) |
|
probably null |
Het |
| Mtx1 |
T |
C |
3: 89,121,205 (GRCm39) |
Y143C |
probably benign |
Het |
| Nacad |
T |
C |
11: 6,548,507 (GRCm39) |
E1409G |
possibly damaging |
Het |
| Ndst3 |
T |
C |
3: 123,400,676 (GRCm39) |
H410R |
probably damaging |
Het |
| Nkx6-2 |
T |
C |
7: 139,161,486 (GRCm39) |
E233G |
possibly damaging |
Het |
| Oas1h |
A |
G |
5: 121,000,846 (GRCm39) |
E152G |
probably damaging |
Het |
| Or8g22 |
A |
G |
9: 38,958,158 (GRCm39) |
S186P |
probably damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,887,269 (GRCm39) |
F222L |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,358,429 (GRCm39) |
S2716G |
probably null |
Het |
| Pla2g4e |
T |
C |
2: 120,001,718 (GRCm39) |
T644A |
probably benign |
Het |
| Plxnd1 |
A |
G |
6: 115,932,726 (GRCm39) |
I1918T |
probably damaging |
Het |
| Psmg1 |
A |
T |
16: 95,790,812 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
G |
A |
4: 76,047,136 (GRCm39) |
R364C |
probably damaging |
Het |
| Rgs22 |
T |
C |
15: 36,026,088 (GRCm39) |
I945V |
possibly damaging |
Het |
| Rgs7bp |
T |
C |
13: 105,088,072 (GRCm39) |
N234S |
probably benign |
Het |
| Rrp7a |
T |
C |
15: 83,004,010 (GRCm39) |
|
probably benign |
Het |
| Scg2 |
T |
A |
1: 79,414,193 (GRCm39) |
R177* |
probably null |
Het |
| Sema4c |
C |
A |
1: 36,589,392 (GRCm39) |
C578F |
probably damaging |
Het |
| Slc1a5 |
T |
A |
7: 16,531,668 (GRCm39) |
|
probably benign |
Het |
| Slc5a3 |
A |
G |
16: 91,875,571 (GRCm39) |
T543A |
possibly damaging |
Het |
| Slx4ip |
T |
A |
2: 136,888,687 (GRCm39) |
F123I |
probably benign |
Het |
| Smtn |
C |
T |
11: 3,472,916 (GRCm39) |
R737H |
probably damaging |
Het |
| Stox2 |
A |
G |
8: 47,866,300 (GRCm39) |
I14T |
possibly damaging |
Het |
| Stradb |
T |
C |
1: 59,019,599 (GRCm39) |
F43L |
probably benign |
Het |
| Szt2 |
T |
C |
4: 118,245,866 (GRCm39) |
D1029G |
probably benign |
Het |
| Taar6 |
T |
C |
10: 23,860,613 (GRCm39) |
Y311C |
probably damaging |
Het |
| Tcea3 |
A |
T |
4: 135,995,404 (GRCm39) |
N249I |
probably damaging |
Het |
| Tecta |
A |
G |
9: 42,241,573 (GRCm39) |
M2134T |
probably benign |
Het |
| Tg |
G |
A |
15: 66,636,186 (GRCm39) |
G591D |
probably damaging |
Het |
| Tm4sf20 |
T |
A |
1: 82,746,084 (GRCm39) |
I19F |
probably benign |
Het |
| Top2a |
T |
C |
11: 98,888,676 (GRCm39) |
K1262E |
probably benign |
Het |
| Ube2r2 |
A |
G |
4: 41,190,742 (GRCm39) |
|
probably benign |
Het |
| Usp29 |
T |
C |
7: 6,964,927 (GRCm39) |
S257P |
possibly damaging |
Het |
| Usp40 |
T |
C |
1: 87,880,077 (GRCm39) |
N1038S |
probably benign |
Het |
| Utp25 |
A |
T |
1: 192,797,262 (GRCm39) |
M530K |
probably damaging |
Het |
| Vmn1r121 |
C |
T |
7: 20,831,538 (GRCm39) |
E301K |
probably benign |
Het |
| Vmn2r49 |
T |
A |
7: 9,722,959 (GRCm39) |
H105L |
probably benign |
Het |
| Zgrf1 |
C |
T |
3: 127,355,517 (GRCm39) |
Q248* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAACTCTTCCAAGTGCG -3'
(R):5'- TCTTCTGAAGAACAGGCAGCC -3'
Sequencing Primer
(F):5'- AACTCTTCCAAGTGCGGGGAG -3'
(R):5'- TGAGTGTGTGGGCAAACC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation