Incidental Mutation 'IGL03357:Ints11'
ID |
419998 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ints11
|
Ensembl Gene |
ENSMUSG00000029034 |
Gene Name |
integrator complex subunit 11 |
Synonyms |
Cpsf3l, 2410006F12Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03357
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
155954006-155973561 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 155956581 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118803
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030901]
[ENSMUST00000030950]
[ENSMUST00000120794]
[ENSMUST00000151961]
[ENSMUST00000156460]
|
AlphaFold |
Q9CWS4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030901
|
SMART Domains |
Protein: ENSMUSP00000030901 Gene: ENSMUSG00000029034
Domain | Start | End | E-Value | Type |
Lactamase_B
|
16 |
233 |
3.38e-17 |
SMART |
Beta-Casp
|
245 |
363 |
6.94e-37 |
SMART |
Pfam:RMMBL
|
376 |
418 |
1.1e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000030950
|
SMART Domains |
Protein: ENSMUSP00000030950 Gene: ENSMUSG00000029073
Domain | Start | End | E-Value | Type |
Pfam:GLTP
|
27 |
179 |
1.4e-46 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120794
|
SMART Domains |
Protein: ENSMUSP00000112656 Gene: ENSMUSG00000029034
Domain | Start | End | E-Value | Type |
Lactamase_B
|
16 |
211 |
6.42e-9 |
SMART |
Beta-Casp
|
223 |
341 |
6.94e-37 |
SMART |
Pfam:RMMBL
|
354 |
396 |
3.6e-16 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134678
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149458
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151961
|
SMART Domains |
Protein: ENSMUSP00000115935 Gene: ENSMUSG00000029073
Domain | Start | End | E-Value | Type |
Pfam:GLTP
|
25 |
181 |
1.9e-49 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156266
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156460
|
SMART Domains |
Protein: ENSMUSP00000118803 Gene: ENSMUSG00000029034
Domain | Start | End | E-Value | Type |
SCOP:d1smla_
|
1 |
66 |
7e-7 |
SMART |
PDB:2I7V|A
|
3 |
38 |
1e-9 |
PDB |
Blast:Lactamase_B
|
16 |
66 |
4e-30 |
BLAST |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Integrator complex contains at least 12 subunits and associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates the 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690). INTS11, or CPSF3L, is the catalytic subunit of the Integrator complex (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
C |
T |
19: 8,986,689 (GRCm39) |
|
probably benign |
Het |
Asah1 |
A |
G |
8: 41,799,233 (GRCm39) |
|
probably benign |
Het |
Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
Chd6 |
T |
C |
2: 160,859,936 (GRCm39) |
|
probably benign |
Het |
Chn2 |
G |
A |
6: 54,171,062 (GRCm39) |
R47Q |
probably benign |
Het |
Clmp |
A |
G |
9: 40,597,623 (GRCm39) |
|
probably benign |
Het |
Col11a1 |
G |
A |
3: 113,987,740 (GRCm39) |
G245R |
probably damaging |
Het |
Cyp4a32 |
T |
A |
4: 115,468,798 (GRCm39) |
S395T |
probably benign |
Het |
Dcc |
A |
T |
18: 71,460,625 (GRCm39) |
I1155K |
probably damaging |
Het |
Dpy19l4 |
G |
A |
4: 11,267,615 (GRCm39) |
H442Y |
probably damaging |
Het |
Dpys |
T |
C |
15: 39,687,612 (GRCm39) |
I395M |
probably damaging |
Het |
Dpysl2 |
T |
C |
14: 67,050,736 (GRCm39) |
K374E |
probably damaging |
Het |
Fryl |
A |
T |
5: 73,211,402 (GRCm39) |
D660E |
probably damaging |
Het |
Gabrb2 |
T |
C |
11: 42,482,771 (GRCm39) |
F210L |
probably damaging |
Het |
Gm4831 |
C |
T |
17: 37,422,879 (GRCm39) |
|
probably benign |
Het |
Igsf10 |
A |
T |
3: 59,243,632 (GRCm39) |
M234K |
probably benign |
Het |
Mex3a |
T |
A |
3: 88,443,553 (GRCm39) |
S210T |
probably benign |
Het |
Or4k42 |
C |
T |
2: 111,320,289 (GRCm39) |
M71I |
probably benign |
Het |
Or4k52 |
G |
A |
2: 111,610,871 (GRCm39) |
V69I |
probably benign |
Het |
Pde1c |
A |
G |
6: 56,157,078 (GRCm39) |
V106A |
probably damaging |
Het |
Pitpnm3 |
G |
A |
11: 71,961,716 (GRCm39) |
Q284* |
probably null |
Het |
Pkd1l2 |
A |
G |
8: 117,722,548 (GRCm39) |
L2420P |
probably damaging |
Het |
Prpf39 |
A |
G |
12: 65,108,211 (GRCm39) |
|
probably benign |
Het |
Prss28 |
C |
T |
17: 25,528,669 (GRCm39) |
T37I |
probably benign |
Het |
Serpinb6c |
A |
T |
13: 34,079,369 (GRCm39) |
S108T |
probably benign |
Het |
Snx7 |
T |
C |
3: 117,632,524 (GRCm39) |
H131R |
probably damaging |
Het |
Tex101 |
A |
T |
7: 24,367,758 (GRCm39) |
I198K |
probably damaging |
Het |
Thoc2l |
T |
G |
5: 104,668,334 (GRCm39) |
V952G |
probably damaging |
Het |
Thumpd2 |
T |
C |
17: 81,351,519 (GRCm39) |
|
probably benign |
Het |
Ubqln3 |
A |
C |
7: 103,791,763 (GRCm39) |
I109S |
probably benign |
Het |
Zfp212 |
A |
T |
6: 47,907,771 (GRCm39) |
N250I |
probably benign |
Het |
|
Other mutations in Ints11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01145:Ints11
|
APN |
4 |
155,969,583 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01515:Ints11
|
APN |
4 |
155,959,689 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01613:Ints11
|
APN |
4 |
155,969,655 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02024:Ints11
|
APN |
4 |
155,972,972 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02127:Ints11
|
APN |
4 |
155,971,320 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02850:Ints11
|
APN |
4 |
155,959,761 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02926:Ints11
|
APN |
4 |
155,972,568 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03296:Ints11
|
APN |
4 |
155,969,780 (GRCm39) |
critical splice donor site |
probably null |
|
R0013:Ints11
|
UTSW |
4 |
155,971,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R0013:Ints11
|
UTSW |
4 |
155,971,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R0449:Ints11
|
UTSW |
4 |
155,972,405 (GRCm39) |
missense |
probably benign |
0.17 |
R0480:Ints11
|
UTSW |
4 |
155,972,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R0589:Ints11
|
UTSW |
4 |
155,971,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R0678:Ints11
|
UTSW |
4 |
155,972,210 (GRCm39) |
missense |
probably damaging |
1.00 |
R0865:Ints11
|
UTSW |
4 |
155,971,564 (GRCm39) |
splice site |
probably null |
|
R1135:Ints11
|
UTSW |
4 |
155,972,384 (GRCm39) |
splice site |
probably null |
|
R1466:Ints11
|
UTSW |
4 |
155,972,567 (GRCm39) |
critical splice donor site |
probably null |
|
R1466:Ints11
|
UTSW |
4 |
155,972,567 (GRCm39) |
critical splice donor site |
probably null |
|
R1658:Ints11
|
UTSW |
4 |
155,972,185 (GRCm39) |
missense |
probably damaging |
0.97 |
R1707:Ints11
|
UTSW |
4 |
155,959,655 (GRCm39) |
missense |
probably benign |
0.21 |
R2199:Ints11
|
UTSW |
4 |
155,959,738 (GRCm39) |
missense |
probably benign |
0.07 |
R2876:Ints11
|
UTSW |
4 |
155,971,882 (GRCm39) |
unclassified |
probably benign |
|
R4567:Ints11
|
UTSW |
4 |
155,970,132 (GRCm39) |
missense |
probably damaging |
1.00 |
R4900:Ints11
|
UTSW |
4 |
155,972,887 (GRCm39) |
missense |
probably benign |
0.01 |
R4964:Ints11
|
UTSW |
4 |
155,971,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R4966:Ints11
|
UTSW |
4 |
155,971,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R5306:Ints11
|
UTSW |
4 |
155,959,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R5963:Ints11
|
UTSW |
4 |
155,957,369 (GRCm39) |
nonsense |
probably null |
|
R6246:Ints11
|
UTSW |
4 |
155,972,546 (GRCm39) |
missense |
probably benign |
|
R7285:Ints11
|
UTSW |
4 |
155,970,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R7365:Ints11
|
UTSW |
4 |
155,956,687 (GRCm39) |
splice site |
probably null |
|
R7768:Ints11
|
UTSW |
4 |
155,971,396 (GRCm39) |
missense |
probably damaging |
0.97 |
R7774:Ints11
|
UTSW |
4 |
155,970,140 (GRCm39) |
missense |
probably benign |
0.00 |
R7999:Ints11
|
UTSW |
4 |
155,971,413 (GRCm39) |
missense |
probably benign |
0.12 |
R8103:Ints11
|
UTSW |
4 |
155,972,687 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8785:Ints11
|
UTSW |
4 |
155,954,165 (GRCm39) |
missense |
probably benign |
0.17 |
R8825:Ints11
|
UTSW |
4 |
155,969,587 (GRCm39) |
nonsense |
probably null |
|
Z1088:Ints11
|
UTSW |
4 |
155,971,427 (GRCm39) |
missense |
probably benign |
0.41 |
|
Posted On |
2016-08-02 |