Incidental Mutation 'R6753:Ints1'
| ID |
530884 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints1
|
| Ensembl Gene |
ENSMUSG00000029547 |
| Gene Name |
integrator complex subunit 1 |
| Synonyms |
1110015K06Rik |
| MMRRC Submission |
044870-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6753 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
139737037-139761429 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 139750930 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 824
(E824D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143789
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072607]
[ENSMUST00000200393]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072607
AA Change: E822D
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000072406
Gene: ENSMUSG00000029547
AA Change: E822D
| 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 |
noncoding transcript
Transcript: ENSMUST00000197156
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197727
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200339
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200393
AA Change: E824D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143789
Gene: ENSMUSG00000029547
AA Change: E824D
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
99% (68/69) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
G |
A |
11: 119,900,977 (GRCm39) |
P1083S |
probably benign |
Het |
| Abcb5 |
T |
A |
12: 118,908,641 (GRCm39) |
N101I |
possibly damaging |
Het |
| Adrb2 |
A |
G |
18: 62,312,624 (GRCm39) |
V67A |
possibly damaging |
Het |
| Agk |
T |
A |
6: 40,345,504 (GRCm39) |
|
probably null |
Het |
| Akap10 |
A |
T |
11: 61,777,603 (GRCm39) |
M586K |
probably damaging |
Het |
| Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
| Armc1 |
A |
G |
3: 19,198,562 (GRCm39) |
F133L |
possibly damaging |
Het |
| Bank1 |
T |
C |
3: 135,799,069 (GRCm39) |
E424G |
probably damaging |
Het |
| Cacna1a |
A |
G |
8: 85,306,834 (GRCm39) |
E1363G |
probably damaging |
Het |
| Cacna1d |
C |
A |
14: 29,764,743 (GRCm39) |
A2076S |
probably damaging |
Het |
| Ccdc73 |
T |
A |
2: 104,821,869 (GRCm39) |
L606* |
probably null |
Het |
| Ccdc8 |
C |
T |
7: 16,730,562 (GRCm39) |
Q684* |
probably null |
Het |
| Ces1b |
T |
A |
8: 93,793,648 (GRCm39) |
K314* |
probably null |
Het |
| Ces1e |
T |
A |
8: 93,941,756 (GRCm39) |
N238I |
probably damaging |
Het |
| Chd4 |
A |
G |
6: 125,091,263 (GRCm39) |
N1238S |
probably benign |
Het |
| Cmtr2 |
T |
A |
8: 110,949,611 (GRCm39) |
D640E |
probably damaging |
Het |
| Col7a1 |
C |
T |
9: 108,787,196 (GRCm39) |
T559I |
unknown |
Het |
| Comt |
T |
C |
16: 18,226,771 (GRCm39) |
K205R |
probably benign |
Het |
| Dbp |
A |
T |
7: 45,357,828 (GRCm39) |
E232V |
probably damaging |
Het |
| Dcbld2 |
A |
G |
16: 58,276,493 (GRCm39) |
T470A |
possibly damaging |
Het |
| Eml6 |
T |
A |
11: 29,704,987 (GRCm39) |
D1519V |
probably damaging |
Het |
| Evpl |
T |
A |
11: 116,128,732 (GRCm39) |
H31L |
possibly damaging |
Het |
| Exoc1 |
T |
A |
5: 76,711,186 (GRCm39) |
I86N |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,826,357 (GRCm39) |
E4532K |
possibly damaging |
Het |
| Fgfr3 |
T |
C |
5: 33,889,503 (GRCm39) |
S301P |
probably benign |
Het |
| Gas2l1 |
C |
T |
11: 5,014,254 (GRCm39) |
V69I |
probably damaging |
Het |
| Gm2042 |
T |
A |
12: 87,924,854 (GRCm39) |
I107K |
probably damaging |
Het |
| Gucy1b1 |
T |
C |
3: 81,947,054 (GRCm39) |
D385G |
probably null |
Het |
| Itfg1 |
T |
C |
8: 86,561,707 (GRCm39) |
D142G |
probably benign |
Het |
| Jaml |
A |
G |
9: 45,018,677 (GRCm39) |
N359D |
probably benign |
Het |
| Kcnh7 |
T |
A |
2: 62,680,721 (GRCm39) |
I289L |
probably benign |
Het |
| Klf12 |
G |
A |
14: 100,347,212 (GRCm39) |
Q40* |
probably null |
Het |
| Mcm4 |
A |
C |
16: 15,447,226 (GRCm39) |
N579K |
possibly damaging |
Het |
| Mfsd2b |
A |
T |
12: 4,917,358 (GRCm39) |
F179I |
possibly damaging |
Het |
| Mmp11 |
C |
T |
10: 75,764,208 (GRCm39) |
V86M |
probably damaging |
Het |
| Mogs |
T |
C |
6: 83,092,863 (GRCm39) |
V101A |
probably damaging |
Het |
| Narf |
T |
A |
11: 121,133,452 (GRCm39) |
H84Q |
probably benign |
Het |
| Or5ak4 |
C |
A |
2: 85,162,142 (GRCm39) |
M33I |
probably benign |
Het |
| Otog |
A |
C |
7: 45,898,495 (GRCm39) |
E204D |
probably benign |
Het |
| Parp8 |
G |
A |
13: 117,031,651 (GRCm39) |
H354Y |
possibly damaging |
Het |
| Pcnx1 |
C |
A |
12: 82,011,254 (GRCm39) |
D1238E |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
| Pkd1l3 |
C |
T |
8: 110,351,081 (GRCm39) |
T642I |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,453,059 (GRCm39) |
E3995K |
probably benign |
Het |
| Prdm9 |
A |
T |
17: 15,765,218 (GRCm39) |
Y521N |
probably benign |
Het |
| Prex2 |
A |
G |
1: 11,254,680 (GRCm39) |
S1105G |
probably damaging |
Het |
| Prss35 |
T |
A |
9: 86,638,153 (GRCm39) |
F308I |
probably damaging |
Het |
| Rab22a |
C |
T |
2: 173,542,848 (GRCm39) |
A167V |
probably benign |
Het |
| Rims2 |
A |
G |
15: 39,430,369 (GRCm39) |
Q871R |
possibly damaging |
Het |
| Rorb |
A |
T |
19: 18,934,611 (GRCm39) |
M253K |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,482,955 (GRCm39) |
D4269G |
probably damaging |
Het |
| Snx11 |
T |
C |
11: 96,660,732 (GRCm39) |
|
probably benign |
Het |
| Son |
A |
G |
16: 91,454,076 (GRCm39) |
Q941R |
probably damaging |
Het |
| Sptbn2 |
G |
T |
19: 4,797,813 (GRCm39) |
R1880L |
probably benign |
Het |
| Sun1 |
G |
A |
5: 139,201,014 (GRCm39) |
|
probably null |
Het |
| Tprn |
A |
G |
2: 25,154,050 (GRCm39) |
R451G |
probably benign |
Het |
| Trbv30 |
T |
A |
6: 41,258,311 (GRCm39) |
M1K |
probably null |
Het |
| Ttn |
C |
A |
2: 76,568,565 (GRCm39) |
G25697W |
probably damaging |
Het |
| Ubb |
T |
G |
11: 62,442,353 (GRCm39) |
|
probably null |
Het |
| Unc13b |
C |
T |
4: 43,239,331 (GRCm39) |
R1038C |
probably damaging |
Het |
| Usp7 |
T |
C |
16: 8,514,775 (GRCm39) |
M687V |
probably benign |
Het |
| Zfp160 |
G |
A |
17: 21,240,996 (GRCm39) |
M21I |
probably benign |
Het |
| Zfp868 |
T |
C |
8: 70,064,747 (GRCm39) |
N196S |
probably benign |
Het |
| Zup1 |
A |
T |
10: 33,804,025 (GRCm39) |
I483N |
probably 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 |
|
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'- AGGTTAGCTCTGCCTGTTCC -3'
(R):5'- ACTGGGGCTTAACTGGGTAG -3'
Sequencing Primer
(F):5'- GTTAGCTCTGCCTGTTCCTCATC -3'
(R):5'- TGGCTCAGTGGTCAGGC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation