Incidental Mutation 'R5496:Ints1'
| ID |
432337 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints1
|
| Ensembl Gene |
ENSMUSG00000029547 |
| Gene Name |
integrator complex subunit 1 |
| Synonyms |
1110015K06Rik |
| MMRRC Submission |
043057-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5496 (G1)
|
| Quality Score |
102 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
139737037-139761429 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 139740953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 1904
(A1904V)
|
| 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 benign
Transcript: ENSMUST00000072607
AA Change: A1902V
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000072406
Gene: ENSMUSG00000029547
AA Change: A1902V
| 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: ENSMUST00000198615
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200393
AA Change: A1904V
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000143789
Gene: ENSMUSG00000029547
AA Change: A1904V
| 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: 98.3%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.2%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
G |
A |
5: 8,724,818 (GRCm39) |
V84I |
probably benign |
Het |
| Adam10 |
T |
G |
9: 70,630,021 (GRCm39) |
F151C |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 53,187,436 (GRCm39) |
S1617G |
possibly damaging |
Het |
| Ano6 |
T |
A |
15: 95,865,495 (GRCm39) |
|
probably null |
Het |
| Atmin |
A |
G |
8: 117,683,911 (GRCm39) |
T524A |
probably benign |
Het |
| Bicra |
C |
T |
7: 15,721,766 (GRCm39) |
V584I |
probably benign |
Het |
| Carmil1 |
G |
A |
13: 24,339,433 (GRCm39) |
R54C |
probably damaging |
Het |
| Cbln1 |
A |
G |
8: 88,198,324 (GRCm39) |
I127T |
possibly damaging |
Het |
| Ccl26 |
A |
G |
5: 135,592,217 (GRCm39) |
V40A |
probably benign |
Het |
| Cdh20 |
T |
A |
1: 109,976,647 (GRCm39) |
I104N |
probably damaging |
Het |
| Cdt1 |
C |
T |
8: 123,297,239 (GRCm39) |
R311W |
probably damaging |
Het |
| Cfap91 |
A |
G |
16: 38,141,855 (GRCm39) |
I359T |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,509,467 (GRCm39) |
|
probably benign |
Het |
| Csf2rb |
A |
G |
15: 78,224,761 (GRCm39) |
E173G |
probably damaging |
Het |
| Cyb561 |
A |
G |
11: 105,828,545 (GRCm39) |
Y94H |
probably damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,404,341 (GRCm39) |
K34M |
probably damaging |
Het |
| Diras2 |
C |
T |
13: 52,661,786 (GRCm39) |
V174M |
probably benign |
Het |
| Dnah7a |
T |
G |
1: 53,496,927 (GRCm39) |
M3110L |
probably benign |
Het |
| Dyrk2 |
T |
C |
10: 118,695,956 (GRCm39) |
E434G |
probably damaging |
Het |
| Ebag9 |
T |
G |
15: 44,503,816 (GRCm39) |
*214E |
probably null |
Het |
| Egln3 |
A |
T |
12: 54,250,110 (GRCm39) |
W80R |
probably damaging |
Het |
| Eps15l1 |
A |
G |
8: 73,136,619 (GRCm39) |
Y336H |
probably benign |
Het |
| Gak |
A |
G |
5: 108,724,483 (GRCm39) |
S1076P |
probably benign |
Het |
| Glra1 |
T |
C |
11: 55,418,241 (GRCm39) |
Y168C |
probably damaging |
Het |
| Glrx2 |
T |
A |
1: 143,620,945 (GRCm39) |
M108K |
probably damaging |
Het |
| Gm3604 |
A |
T |
13: 62,519,393 (GRCm39) |
S59T |
possibly damaging |
Het |
| Gm8212 |
A |
T |
14: 44,438,614 (GRCm39) |
|
probably benign |
Het |
| Gmcl1 |
G |
T |
6: 86,674,507 (GRCm39) |
A457D |
probably damaging |
Het |
| H2-M11 |
T |
C |
17: 36,858,871 (GRCm39) |
F137S |
possibly damaging |
Het |
| Ighv1-55 |
C |
G |
12: 115,172,140 (GRCm39) |
W3S |
probably damaging |
Het |
| Il22 |
T |
G |
10: 118,041,002 (GRCm39) |
V36G |
possibly damaging |
Het |
| Iqgap2 |
A |
G |
13: 95,766,561 (GRCm39) |
Y1481H |
probably damaging |
Het |
| Kcnn3 |
C |
T |
3: 89,516,797 (GRCm39) |
A402V |
possibly damaging |
Het |
| Kif18b |
A |
T |
11: 102,804,568 (GRCm39) |
I362N |
possibly damaging |
Het |
| Kif5c |
C |
G |
2: 49,620,202 (GRCm39) |
A223G |
possibly damaging |
Het |
| Kntc1 |
A |
G |
5: 123,922,245 (GRCm39) |
D948G |
probably benign |
Het |
| Krba1 |
A |
G |
6: 48,383,290 (GRCm39) |
T229A |
possibly damaging |
Het |
| Leprot |
T |
A |
4: 101,515,093 (GRCm39) |
I113N |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,817,985 (GRCm39) |
D2415G |
probably benign |
Het |
| Mnd1 |
T |
A |
3: 83,995,481 (GRCm39) |
D171V |
probably damaging |
Het |
| Mthfsd |
A |
T |
8: 121,825,553 (GRCm39) |
Y339* |
probably null |
Het |
| Nfatc2 |
G |
A |
2: 168,378,198 (GRCm39) |
T268M |
probably damaging |
Het |
| Or14j10 |
T |
C |
17: 37,935,469 (GRCm39) |
D19G |
probably benign |
Het |
| Or52d3 |
G |
C |
7: 104,229,701 (GRCm39) |
A283P |
probably damaging |
Het |
| Or8h7 |
G |
T |
2: 86,720,658 (GRCm39) |
P287Q |
probably damaging |
Het |
| Or8h7 |
G |
C |
2: 86,720,659 (GRCm39) |
P287A |
probably damaging |
Het |
| Pan3 |
G |
A |
5: 147,463,938 (GRCm39) |
|
probably null |
Het |
| Pde6a |
A |
T |
18: 61,386,736 (GRCm39) |
|
probably null |
Het |
| Prss39 |
T |
C |
1: 34,539,342 (GRCm39) |
I194T |
possibly damaging |
Het |
| Rfx8 |
T |
C |
1: 39,709,507 (GRCm39) |
S507G |
probably benign |
Het |
| Rif1 |
T |
C |
2: 51,988,928 (GRCm39) |
S774P |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Smurf1 |
C |
A |
5: 144,819,403 (GRCm39) |
E601* |
probably null |
Het |
| Stau2 |
T |
C |
1: 16,460,245 (GRCm39) |
S231G |
probably damaging |
Het |
| Timp2 |
T |
G |
11: 118,194,707 (GRCm39) |
M161L |
probably benign |
Het |
| Tlr5 |
T |
C |
1: 182,801,197 (GRCm39) |
L167P |
probably damaging |
Het |
| Trhr |
G |
A |
15: 44,060,932 (GRCm39) |
A151T |
probably benign |
Het |
| Unc13d |
A |
G |
11: 115,957,534 (GRCm39) |
V807A |
probably damaging |
Het |
| Usp2 |
T |
C |
9: 43,996,505 (GRCm39) |
V7A |
possibly damaging |
Het |
| Uspl1 |
A |
G |
5: 149,146,589 (GRCm39) |
T447A |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,434,607 (GRCm39) |
I2232T |
unknown |
Het |
| Zfp12 |
C |
A |
5: 143,230,550 (GRCm39) |
C292* |
probably null |
Het |
| Zfp850 |
A |
C |
7: 27,706,771 (GRCm39) |
M43R |
probably damaging |
Het |
| Zic5 |
G |
A |
14: 122,696,755 (GRCm39) |
T620M |
unknown |
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 |
|
|
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'- AAGAAGGCCAGGTGGTTCTG -3'
(R):5'- TGATCGCTAGAGTGTCCGTG -3'
Sequencing Primer
(F):5'- TCTGCTGCCGGAACTCCTG -3'
(R):5'- CTAGAGTGTCCGTGCTGAGC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation