Incidental Mutation 'IGL03296:Ints11'
| ID |
416101 |
| 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 # |
IGL03296
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
155954006-155973561 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 155969780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112656
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030901]
[ENSMUST00000097737]
[ENSMUST00000120794]
[ENSMUST00000156460]
|
| AlphaFold |
Q9CWS4 |
| Predicted Effect |
probably null
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: ENSMUST00000097737
|
| SMART Domains |
Protein: ENSMUSP00000095344
Gene: ENSMUSG00000051557
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PseudoU_synth_1
|
16 |
124 |
2.5e-12 |
PFAM |
|
Pfam:PseudoU_synth_1
|
168 |
285 |
1.1e-17 |
PFAM |
|
| Predicted Effect |
probably null
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: ENSMUST00000123504
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132632
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134678
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135844
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf1 |
T |
C |
17: 43,632,044 (GRCm39) |
|
probably benign |
Het |
| Arhgef26 |
A |
G |
3: 62,330,926 (GRCm39) |
T547A |
probably damaging |
Het |
| Cdc14a |
T |
A |
3: 116,090,807 (GRCm39) |
H375L |
probably benign |
Het |
| Ddx43 |
T |
C |
9: 78,306,380 (GRCm39) |
|
probably null |
Het |
| Dennd6a |
T |
C |
14: 26,338,115 (GRCm39) |
|
probably null |
Het |
| Dock4 |
A |
T |
12: 40,783,256 (GRCm39) |
E730V |
possibly damaging |
Het |
| Gpr55 |
A |
G |
1: 85,868,753 (GRCm39) |
L276S |
probably damaging |
Het |
| Grid1 |
T |
C |
14: 35,302,524 (GRCm39) |
F930L |
possibly damaging |
Het |
| Inf2 |
C |
T |
12: 112,570,642 (GRCm39) |
Q394* |
probably null |
Het |
| Kcnd2 |
T |
C |
6: 21,714,208 (GRCm39) |
V397A |
probably damaging |
Het |
| Lmntd1 |
A |
G |
6: 145,359,203 (GRCm39) |
F316L |
probably benign |
Het |
| Loxl4 |
A |
T |
19: 42,587,262 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
C |
T |
11: 103,388,499 (GRCm39) |
E2309K |
unknown |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Mindy4 |
T |
C |
6: 55,274,738 (GRCm39) |
|
probably null |
Het |
| Mybpc2 |
A |
T |
7: 44,156,308 (GRCm39) |
I835N |
probably damaging |
Het |
| Myo5a |
T |
C |
9: 75,023,484 (GRCm39) |
I15T |
probably damaging |
Het |
| Nfkb2 |
A |
T |
19: 46,298,367 (GRCm39) |
D557V |
probably damaging |
Het |
| Or11g27 |
A |
T |
14: 50,771,402 (GRCm39) |
I178L |
possibly damaging |
Het |
| Pdk3 |
T |
C |
X: 92,875,503 (GRCm39) |
Y19C |
probably damaging |
Het |
| Pdpr |
G |
T |
8: 111,841,430 (GRCm39) |
V221F |
probably damaging |
Het |
| Rab6a |
T |
C |
7: 100,283,931 (GRCm39) |
Y128H |
probably benign |
Het |
| Rars1 |
A |
T |
11: 35,707,523 (GRCm39) |
Y429* |
probably null |
Het |
| Rsl24d1 |
T |
C |
9: 73,025,229 (GRCm39) |
|
probably null |
Het |
| Slc7a9 |
T |
C |
7: 35,151,852 (GRCm39) |
F49S |
probably damaging |
Het |
| St14 |
C |
T |
9: 31,020,008 (GRCm39) |
E34K |
probably damaging |
Het |
| Tcp10b |
A |
G |
17: 13,292,443 (GRCm39) |
T289A |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,942,852 (GRCm39) |
|
probably null |
Het |
| Tshz3 |
A |
T |
7: 36,470,761 (GRCm39) |
T917S |
probably damaging |
Het |
| Vrtn |
T |
A |
12: 84,695,622 (GRCm39) |
I124N |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,420,540 (GRCm39) |
E1747G |
probably damaging |
Het |
| Wdr33 |
A |
T |
18: 31,960,444 (GRCm39) |
Q36L |
probably benign |
Het |
| Xpo5 |
C |
T |
17: 46,532,320 (GRCm39) |
R452* |
probably null |
Het |
| Zdhhc8 |
A |
T |
16: 18,044,587 (GRCm39) |
L311Q |
possibly damaging |
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 |
|
|
IGL03357:Ints11
|
APN |
4 |
155,956,581 (GRCm39) |
splice site |
probably benign |
|
|
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 |
Incidental Mutation