Incidental Mutation 'IGL02926:Ints11'
| ID |
363899 |
| 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 # |
IGL02926
|
| 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 155972568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112656
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030901]
[ENSMUST00000030901]
[ENSMUST00000079031]
[ENSMUST00000097737]
[ENSMUST00000105584]
[ENSMUST00000120794]
[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 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: ENSMUST00000079031
|
| SMART Domains |
Protein: ENSMUSP00000078040
Gene: ENSMUSG00000029033
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
31 |
N/A |
INTRINSIC |
|
PH
|
265 |
361 |
6.35e-16 |
SMART |
|
low complexity region
|
377 |
391 |
N/A |
INTRINSIC |
|
ArfGap
|
399 |
521 |
4.62e-56 |
SMART |
|
low complexity region
|
554 |
566 |
N/A |
INTRINSIC |
|
low complexity region
|
601 |
617 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
650 |
N/A |
INTRINSIC |
|
low complexity region
|
669 |
686 |
N/A |
INTRINSIC |
|
ANK
|
696 |
725 |
3.91e-3 |
SMART |
|
ANK
|
729 |
758 |
2.43e1 |
SMART |
|
low complexity region
|
781 |
796 |
N/A |
INTRINSIC |
|
low complexity region
|
797 |
809 |
N/A |
INTRINSIC |
|
| 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 benign
Transcript: ENSMUST00000105584
|
| SMART Domains |
Protein: ENSMUSP00000101209
Gene: ENSMUSG00000029033
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BAR_3
|
3 |
236 |
4.1e-95 |
PFAM |
|
PH
|
269 |
365 |
6.35e-16 |
SMART |
|
low complexity region
|
381 |
395 |
N/A |
INTRINSIC |
|
ArfGap
|
403 |
525 |
4.62e-56 |
SMART |
|
low complexity region
|
558 |
570 |
N/A |
INTRINSIC |
|
low complexity region
|
605 |
621 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
654 |
N/A |
INTRINSIC |
|
low complexity region
|
673 |
690 |
N/A |
INTRINSIC |
|
ANK
|
700 |
729 |
3.91e-3 |
SMART |
|
ANK
|
733 |
762 |
2.43e1 |
SMART |
|
low complexity region
|
785 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
801 |
813 |
N/A |
INTRINSIC |
|
| 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 |
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: ENSMUST00000126582
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135844
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130146
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129637
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142724
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132632
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134678
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142566
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131168
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137726
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150446
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
A |
T |
6: 85,618,432 (GRCm39) |
D2826V |
probably damaging |
Het |
| Alpl |
C |
T |
4: 137,469,945 (GRCm39) |
A460T |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 142,976,963 (GRCm39) |
|
probably benign |
Het |
| C4b |
C |
T |
17: 34,949,686 (GRCm39) |
R1468Q |
possibly damaging |
Het |
| Calu |
A |
G |
6: 29,366,919 (GRCm39) |
T44A |
possibly damaging |
Het |
| Cgn |
T |
C |
3: 94,685,326 (GRCm39) |
K399R |
probably benign |
Het |
| Ciao3 |
A |
G |
17: 26,001,128 (GRCm39) |
H460R |
probably benign |
Het |
| Cyp2t4 |
G |
A |
7: 26,857,228 (GRCm39) |
V356M |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,044,604 (GRCm39) |
D683G |
probably damaging |
Het |
| Dhcr24 |
T |
A |
4: 106,443,552 (GRCm39) |
I410N |
probably damaging |
Het |
| Dmap1 |
T |
A |
4: 117,539,085 (GRCm39) |
E17V |
probably benign |
Het |
| Dnaaf9 |
C |
T |
2: 130,554,286 (GRCm39) |
R921K |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,535,109 (GRCm39) |
I2717T |
possibly damaging |
Het |
| Epb41l3 |
G |
T |
17: 69,554,741 (GRCm39) |
K280N |
probably damaging |
Het |
| Espl1 |
T |
A |
15: 102,208,290 (GRCm39) |
M432K |
probably damaging |
Het |
| Fgf5 |
C |
A |
5: 98,409,874 (GRCm39) |
A141E |
probably damaging |
Het |
| Fto |
T |
A |
8: 92,211,795 (GRCm39) |
F373L |
probably damaging |
Het |
| Gpatch1 |
T |
C |
7: 35,007,694 (GRCm39) |
D122G |
probably damaging |
Het |
| Jarid2 |
A |
G |
13: 45,056,405 (GRCm39) |
Q398R |
probably benign |
Het |
| Kcnh1 |
A |
G |
1: 191,959,208 (GRCm39) |
D254G |
probably damaging |
Het |
| Lamc3 |
C |
T |
2: 31,825,737 (GRCm39) |
|
probably benign |
Het |
| Lamc3 |
C |
T |
2: 31,825,738 (GRCm39) |
|
probably benign |
Het |
| Ltbp4 |
T |
C |
7: 27,028,297 (GRCm39) |
|
probably null |
Het |
| Mcm6 |
A |
G |
1: 128,267,119 (GRCm39) |
Y575H |
probably damaging |
Het |
| Myh9 |
A |
C |
15: 77,671,826 (GRCm39) |
Y422D |
probably damaging |
Het |
| Or4c35 |
T |
C |
2: 89,808,506 (GRCm39) |
L128P |
probably damaging |
Het |
| Or5b105 |
A |
C |
19: 13,080,187 (GRCm39) |
N160K |
possibly damaging |
Het |
| Or8b47 |
T |
C |
9: 38,435,021 (GRCm39) |
|
probably benign |
Het |
| Plcb1 |
T |
C |
2: 135,206,682 (GRCm39) |
|
probably benign |
Het |
| Pmfbp1 |
A |
G |
8: 110,246,881 (GRCm39) |
E251G |
probably damaging |
Het |
| Psg27 |
A |
T |
7: 18,291,054 (GRCm39) |
V383E |
probably damaging |
Het |
| Ptprn |
A |
T |
1: 75,224,517 (GRCm39) |
H946Q |
possibly damaging |
Het |
| Rbl1 |
A |
G |
2: 157,009,333 (GRCm39) |
V734A |
probably benign |
Het |
| Rspry1 |
T |
A |
8: 95,376,439 (GRCm39) |
N320K |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,760,965 (GRCm39) |
V3219D |
probably damaging |
Het |
| Ryr2 |
C |
A |
13: 11,774,721 (GRCm39) |
W1145L |
probably damaging |
Het |
| Scel |
A |
T |
14: 103,813,683 (GRCm39) |
R319* |
probably null |
Het |
| Stxbp2 |
C |
T |
8: 3,685,629 (GRCm39) |
T226I |
probably benign |
Het |
| Tac1 |
A |
T |
6: 7,562,410 (GRCm39) |
N106I |
possibly damaging |
Het |
| Trim13 |
G |
T |
14: 61,842,693 (GRCm39) |
|
probably null |
Het |
| Tspan31 |
T |
G |
10: 126,904,778 (GRCm39) |
|
probably null |
Het |
| Usp36 |
C |
T |
11: 118,155,609 (GRCm39) |
V723M |
probably benign |
Het |
| Utrn |
A |
T |
10: 12,566,504 (GRCm39) |
N1219K |
probably damaging |
Het |
| Vcan |
G |
T |
13: 89,836,742 (GRCm39) |
T2934K |
probably 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 |
|
IGL03296:Ints11
|
APN |
4 |
155,969,780 (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 |
2015-12-18 |
Incidental Mutation