Incidental Mutation 'R5766:Ints1'
| ID |
446270 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints1
|
| Ensembl Gene |
ENSMUSG00000029547 |
| Gene Name |
integrator complex subunit 1 |
| Synonyms |
1110015K06Rik |
| MMRRC Submission |
044424-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5766 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
139737037-139761429 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 139757900 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 266
(I266T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072406
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072607]
[ENSMUST00000196864]
[ENSMUST00000200393]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072607
AA Change: I266T
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000072406
Gene: ENSMUSG00000029547
AA Change: I266T
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000197156
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200339
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200393
AA Change: I266T
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000143789
Gene: ENSMUSG00000029547
AA Change: I266T
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
A |
G |
4: 144,182,439 (GRCm39) |
V343A |
probably damaging |
Het |
| AI429214 |
TCCCTGATGAAC |
TC |
8: 37,461,383 (GRCm39) |
|
probably null |
Het |
| Arid2 |
A |
G |
15: 96,270,086 (GRCm39) |
T1400A |
probably benign |
Het |
| Arrdc1 |
G |
A |
2: 24,816,417 (GRCm39) |
T184I |
probably damaging |
Het |
| Aspm |
T |
C |
1: 139,406,740 (GRCm39) |
F1876L |
probably damaging |
Het |
| Calhm1 |
C |
T |
19: 47,132,142 (GRCm39) |
V158I |
probably benign |
Het |
| Caly |
T |
C |
7: 139,650,310 (GRCm39) |
K211E |
probably benign |
Het |
| Cenpe |
T |
C |
3: 134,954,174 (GRCm39) |
L1677P |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,381,032 (GRCm39) |
V1388A |
possibly damaging |
Het |
| Dgkd |
C |
T |
1: 87,808,171 (GRCm39) |
R80* |
probably null |
Het |
| Dnah3 |
A |
T |
7: 119,577,445 (GRCm39) |
I2072N |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,909,235 (GRCm39) |
I1020M |
probably benign |
Het |
| Drc3 |
T |
C |
11: 60,284,647 (GRCm39) |
V484A |
probably benign |
Het |
| Efcab8 |
A |
G |
2: 153,622,912 (GRCm39) |
D27G |
possibly damaging |
Het |
| Fat4 |
G |
A |
3: 38,943,617 (GRCm39) |
G837R |
probably damaging |
Het |
| Fcgbpl1 |
G |
A |
7: 27,836,754 (GRCm39) |
W224* |
probably null |
Het |
| Fgb |
A |
T |
3: 82,953,483 (GRCm39) |
C96S |
probably damaging |
Het |
| Flt4 |
G |
C |
11: 49,517,513 (GRCm39) |
W278C |
possibly damaging |
Het |
| Fmnl2 |
T |
C |
2: 52,991,466 (GRCm39) |
V327A |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,879,548 (GRCm39) |
Y2455F |
possibly damaging |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm13872 |
T |
A |
2: 102,568,254 (GRCm39) |
I88N |
probably damaging |
Het |
| Hoxa6 |
A |
G |
6: 52,185,394 (GRCm39) |
S71P |
probably benign |
Het |
| Hunk |
T |
A |
16: 90,250,627 (GRCm39) |
C148S |
probably damaging |
Het |
| Ighv1-18 |
A |
C |
12: 114,646,527 (GRCm39) |
S26A |
probably damaging |
Het |
| Impg2 |
T |
G |
16: 56,080,183 (GRCm39) |
D553E |
possibly damaging |
Het |
| Kpna3 |
G |
T |
14: 61,640,463 (GRCm39) |
T33K |
probably benign |
Het |
| Lamb1 |
A |
G |
12: 31,349,930 (GRCm39) |
D622G |
probably damaging |
Het |
| Lamp3 |
T |
C |
16: 19,520,067 (GRCm39) |
T39A |
probably damaging |
Het |
| Mnt |
C |
T |
11: 74,733,904 (GRCm39) |
|
probably benign |
Het |
| Msh4 |
A |
G |
3: 153,573,477 (GRCm39) |
S726P |
probably damaging |
Het |
| Or13a25 |
T |
A |
7: 140,247,266 (GRCm39) |
V22E |
probably benign |
Het |
| Pah |
A |
C |
10: 87,403,209 (GRCm39) |
K195Q |
probably damaging |
Het |
| Pdc |
T |
A |
1: 150,209,251 (GRCm39) |
*245K |
probably null |
Het |
| Pdzd8 |
A |
T |
19: 59,288,972 (GRCm39) |
H809Q |
possibly damaging |
Het |
| Plekhd1 |
A |
T |
12: 80,769,140 (GRCm39) |
I467L |
probably benign |
Het |
| Ppp2ca |
A |
G |
11: 52,004,014 (GRCm39) |
D57G |
probably damaging |
Het |
| Ralgapa1 |
A |
T |
12: 55,867,551 (GRCm39) |
M1K |
probably null |
Het |
| Rfx2 |
T |
A |
17: 57,110,587 (GRCm39) |
D133V |
probably benign |
Het |
| Scfd2 |
A |
T |
5: 74,623,312 (GRCm39) |
L407Q |
probably damaging |
Het |
| Scp2d1 |
T |
A |
2: 144,665,957 (GRCm39) |
S99T |
possibly damaging |
Het |
| Sec63 |
A |
T |
10: 42,677,677 (GRCm39) |
N261I |
probably damaging |
Het |
| Slc8a1 |
T |
C |
17: 81,956,390 (GRCm39) |
Y216C |
probably damaging |
Het |
| Son |
T |
A |
16: 91,461,875 (GRCm39) |
|
probably benign |
Het |
| Syce1 |
T |
C |
7: 140,357,894 (GRCm39) |
E285G |
probably damaging |
Het |
| Taar7a |
G |
T |
10: 23,869,260 (GRCm39) |
S40R |
probably benign |
Het |
| Ube3a |
A |
T |
7: 58,925,807 (GRCm39) |
D216V |
possibly damaging |
Het |
| Vgll2 |
A |
G |
10: 51,903,659 (GRCm39) |
D174G |
probably damaging |
Het |
| Vmn2r17 |
A |
T |
5: 109,575,139 (GRCm39) |
T149S |
possibly damaging |
Het |
| Zbtb39 |
G |
T |
10: 127,578,557 (GRCm39) |
C377F |
probably damaging |
Het |
| Zfp820 |
T |
A |
17: 22,038,983 (GRCm39) |
N115I |
probably damaging |
Het |
| Zfp948 |
T |
C |
17: 21,805,078 (GRCm39) |
S23P |
probably benign |
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 |
|
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'- AATCAGCAGCTCCGTCTGAC -3'
(R):5'- GATCTTCGTGAAGGTGAGTCC -3'
Sequencing Primer
(F):5'- AGCTAATGGGTGCCTCCTC -3'
(R):5'- AGTCCTCTCCAGGGTCTCAGAG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation