Incidental Mutation 'R0678:Ints11'
ID |
61702 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ints11
|
Ensembl Gene |
ENSMUSG00000029034 |
Gene Name |
integrator complex subunit 11 |
Synonyms |
Cpsf3l, 2410006F12Rik |
MMRRC Submission |
038863-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0678 (G1)
|
Quality Score |
106 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
155954006-155973561 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 155972210 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 405
(I405T)
|
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: I427T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000030901 Gene: ENSMUSG00000029034 AA Change: I427T
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: I405T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112656 Gene: ENSMUSG00000029034 AA Change: I405T
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: ENSMUST00000135844
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134678
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137726
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150446
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142566
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142724
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130146
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126582
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131168
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129637
|
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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Egfl7 |
C |
T |
2: 26,480,952 (GRCm39) |
R155C |
probably benign |
Het |
Fat4 |
T |
C |
3: 38,943,843 (GRCm39) |
I912T |
probably damaging |
Het |
H2-M5 |
A |
G |
17: 37,300,034 (GRCm39) |
F47L |
possibly damaging |
Het |
H2-T24 |
A |
T |
17: 36,328,333 (GRCm39) |
F50Y |
probably damaging |
Het |
Hif1a |
A |
G |
12: 73,990,965 (GRCm39) |
|
probably null |
Het |
Kmt2d |
A |
T |
15: 98,748,294 (GRCm39) |
|
probably benign |
Het |
Pld1 |
T |
A |
3: 28,174,933 (GRCm39) |
V857D |
probably damaging |
Het |
Ptgr3 |
A |
G |
18: 84,113,287 (GRCm39) |
E321G |
probably benign |
Het |
Rab11fip3 |
G |
A |
17: 26,287,821 (GRCm39) |
P111S |
probably benign |
Het |
Rad17 |
A |
T |
13: 100,781,692 (GRCm39) |
I35N |
possibly damaging |
Het |
Rnf31 |
C |
A |
14: 55,839,170 (GRCm39) |
Y66* |
probably null |
Het |
Sec31a |
T |
C |
5: 100,555,084 (GRCm39) |
I45M |
possibly damaging |
Het |
Sele |
T |
C |
1: 163,882,298 (GRCm39) |
|
probably null |
Het |
Serpina3i |
G |
T |
12: 104,232,978 (GRCm39) |
|
probably null |
Het |
Sp6 |
T |
A |
11: 96,912,607 (GRCm39) |
W107R |
probably damaging |
Het |
Sphkap |
A |
T |
1: 83,256,349 (GRCm39) |
W467R |
probably benign |
Het |
Thbs1 |
T |
C |
2: 117,953,387 (GRCm39) |
F935L |
probably damaging |
Het |
Vmn2r8 |
T |
A |
5: 108,948,412 (GRCm39) |
H492L |
probably benign |
Het |
Xrcc2 |
A |
G |
5: 25,903,261 (GRCm39) |
S37P |
possibly damaging |
Het |
Zfand1 |
T |
A |
3: 10,413,577 (GRCm39) |
I31L |
probably benign |
Het |
Zfr |
G |
A |
15: 12,184,171 (GRCm39) |
D1058N |
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 |
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 |
R0589:Ints11
|
UTSW |
4 |
155,971,343 (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'- AGGCTCTTGCTGCTGCTAACTCTG -3'
(R):5'- GCAATACCCACCCTACCACTGTTTG -3'
Sequencing Primer
(F):5'- GCTTACATCTTGTGATGCCAC -3'
(R):5'- TTCAGGCAACAGTCCTGTGAG -3'
|
Posted On |
2013-07-30 |