Incidental Mutation 'R0589:Ints11'
| ID |
55866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints11
|
| Ensembl Gene |
ENSMUSG00000029034 |
| Gene Name |
integrator complex subunit 11 |
| Synonyms |
Cpsf3l, 2410006F12Rik |
| MMRRC Submission |
038779-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0589 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155954006-155973561 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 155971343 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 264
(T264S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112656
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030901]
[ENSMUST00000079031]
[ENSMUST00000097737]
[ENSMUST00000105584]
[ENSMUST00000120794]
[ENSMUST00000156460]
|
| AlphaFold |
Q9CWS4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030901
AA Change: T286S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000030901
Gene: ENSMUSG00000029034
AA Change: T286S
| 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 damaging
Transcript: ENSMUST00000120794
AA Change: T264S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112656
Gene: ENSMUSG00000029034
AA Change: T264S
| 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: ENSMUST00000129637
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132632
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142566
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134678
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142724
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130146
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150446
|
| 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 |
|
| Meta Mutation Damage Score |
0.3096 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.1%
|
| Validation Efficiency |
98% (62/63) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
G |
T |
11: 109,833,094 (GRCm39) |
A1202E |
probably damaging |
Het |
| Abcc12 |
A |
T |
8: 87,287,101 (GRCm39) |
I155N |
possibly damaging |
Het |
| Atf4 |
T |
A |
15: 80,140,640 (GRCm39) |
H47Q |
probably damaging |
Het |
| Atm |
T |
A |
9: 53,401,492 (GRCm39) |
D1459V |
possibly damaging |
Het |
| Bicral |
A |
G |
17: 47,112,522 (GRCm39) |
S893P |
probably benign |
Het |
| Camk2a |
G |
A |
18: 61,097,036 (GRCm39) |
|
probably null |
Het |
| Cebpz |
G |
A |
17: 79,244,308 (GRCm39) |
T51I |
probably damaging |
Het |
| Cers5 |
A |
T |
15: 99,638,837 (GRCm39) |
D208E |
probably damaging |
Het |
| Cimip2b |
T |
C |
4: 43,427,355 (GRCm39) |
|
probably benign |
Het |
| Cyp1a2 |
T |
C |
9: 57,586,345 (GRCm39) |
D391G |
possibly damaging |
Het |
| Dct |
G |
T |
14: 118,280,682 (GRCm39) |
F111L |
probably benign |
Het |
| Ddb1 |
T |
G |
19: 10,599,080 (GRCm39) |
I529S |
probably benign |
Het |
| Dhx9 |
G |
T |
1: 153,348,037 (GRCm39) |
Q361K |
probably damaging |
Het |
| Dnai3 |
A |
G |
3: 145,768,086 (GRCm39) |
S592P |
probably benign |
Het |
| Erbin |
G |
T |
13: 104,022,795 (GRCm39) |
R15S |
probably damaging |
Het |
| F13b |
T |
C |
1: 139,434,671 (GRCm39) |
S146P |
possibly damaging |
Het |
| Ggnbp2 |
A |
T |
11: 84,727,277 (GRCm39) |
C520S |
probably damaging |
Het |
| Gpx3 |
A |
G |
11: 54,800,329 (GRCm39) |
I208V |
probably benign |
Het |
| Grk3 |
A |
G |
5: 113,076,629 (GRCm39) |
|
probably benign |
Het |
| Heatr9 |
T |
C |
11: 83,405,516 (GRCm39) |
|
probably benign |
Het |
| Heg1 |
T |
G |
16: 33,552,077 (GRCm39) |
I762R |
probably damaging |
Het |
| Ints14 |
T |
C |
9: 64,887,113 (GRCm39) |
L348P |
probably damaging |
Het |
| Maco1 |
C |
A |
4: 134,555,528 (GRCm39) |
C315F |
probably benign |
Het |
| Marf1 |
C |
A |
16: 13,959,919 (GRCm39) |
|
probably benign |
Het |
| Med13 |
A |
G |
11: 86,174,075 (GRCm39) |
Y1808H |
probably damaging |
Het |
| Mef2a |
G |
T |
7: 66,884,896 (GRCm39) |
S406* |
probably null |
Het |
| Mrpl45 |
A |
T |
11: 97,214,714 (GRCm39) |
T134S |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,189,453 (GRCm39) |
I1210V |
probably benign |
Het |
| Nsd3 |
T |
C |
8: 26,131,303 (GRCm39) |
S223P |
probably damaging |
Het |
| Or2j6 |
T |
G |
7: 139,980,813 (GRCm39) |
S49R |
possibly damaging |
Het |
| Or4c115 |
A |
G |
2: 88,927,606 (GRCm39) |
F222L |
probably benign |
Het |
| Or5be3 |
A |
T |
2: 86,864,459 (GRCm39) |
Y35* |
probably null |
Het |
| P3h3 |
T |
A |
6: 124,818,644 (GRCm39) |
E731D |
probably damaging |
Het |
| Pcdhac2 |
A |
G |
18: 37,279,527 (GRCm39) |
R836G |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,376,385 (GRCm39) |
V1250A |
probably benign |
Het |
| Pgbd1 |
G |
A |
13: 21,618,600 (GRCm39) |
T19I |
possibly damaging |
Het |
| Phtf2 |
T |
A |
5: 21,018,249 (GRCm39) |
R31* |
probably null |
Het |
| Plod2 |
T |
A |
9: 92,475,799 (GRCm39) |
V294D |
probably benign |
Het |
| Rassf5 |
C |
T |
1: 131,172,720 (GRCm39) |
G50R |
probably damaging |
Het |
| Rexo5 |
A |
G |
7: 119,444,606 (GRCm39) |
T694A |
probably benign |
Het |
| Rtcb |
A |
C |
10: 85,787,315 (GRCm39) |
S82A |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,172,042 (GRCm39) |
L255P |
probably damaging |
Het |
| Slc35c1 |
A |
G |
2: 92,284,859 (GRCm39) |
F252L |
probably damaging |
Het |
| Slco6d1 |
A |
T |
1: 98,427,472 (GRCm39) |
|
probably benign |
Het |
| Sox10 |
T |
G |
15: 79,047,485 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,529,028 (GRCm39) |
M1762V |
probably benign |
Het |
| Stat3 |
A |
T |
11: 100,798,909 (GRCm39) |
Y94N |
probably damaging |
Het |
| Tasor |
T |
C |
14: 27,183,107 (GRCm39) |
I522T |
probably benign |
Het |
| Tecta |
T |
A |
9: 42,256,930 (GRCm39) |
Y1582F |
probably benign |
Het |
| Tex44 |
A |
G |
1: 86,355,453 (GRCm39) |
D454G |
probably damaging |
Het |
| Tle6 |
A |
G |
10: 81,431,253 (GRCm39) |
|
probably benign |
Het |
| Tmod2 |
T |
C |
9: 75,484,041 (GRCm39) |
E303G |
probably damaging |
Het |
| Trem1 |
A |
G |
17: 48,544,245 (GRCm39) |
D90G |
possibly damaging |
Het |
| Trhde |
A |
T |
10: 114,284,229 (GRCm39) |
D751E |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,795,589 (GRCm39) |
|
probably null |
Het |
| Vars2 |
T |
C |
17: 35,970,068 (GRCm39) |
T774A |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACAACACAGGGTTCAGTTCAAGG -3'
(R):5'- TCCCAGGTGTGGCAAACACAAC -3'
Sequencing Primer
(F):5'- AGGGTTCAGTTCAAGGTACGTTG -3'
(R):5'- GGCTATAATAAGCACCAGACCTTTG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation