Incidental Mutation 'R4050:Ints10'
| ID |
314108 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints10
|
| Ensembl Gene |
ENSMUSG00000031864 |
| Gene Name |
integrator complex subunit 10 |
| Synonyms |
4921521J11Rik |
| MMRRC Submission |
040968-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4050 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
69245729-69282062 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 69280003 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 710
(S710F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069908
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034328]
[ENSMUST00000070713]
[ENSMUST00000110241]
[ENSMUST00000110242]
|
| AlphaFold |
Q8K2A7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034328
AA Change: S684F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000034328
Gene: ENSMUSG00000031864
AA Change: S684F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
132 |
138 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070713
AA Change: S710F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000069908
Gene: ENSMUSG00000031864
AA Change: S710F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
132 |
138 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110241
|
| SMART Domains |
Protein: ENSMUSP00000105870
Gene: ENSMUSG00000031864
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
132 |
138 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110242
AA Change: S710F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105871
Gene: ENSMUSG00000031864
AA Change: S710F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
132 |
138 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000147072
AA Change: S152F
|
| SMART Domains |
Protein: ENSMUSP00000118390
Gene: ENSMUSG00000031864
AA Change: S152F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
92 |
111 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212064
|
| Meta Mutation Damage Score |
0.4810 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
97% (58/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] INTS10 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
A |
G |
4: 148,029,449 (GRCm39) |
D473G |
probably damaging |
Het |
| Abca1 |
T |
A |
4: 53,044,144 (GRCm39) |
Q1826L |
probably damaging |
Het |
| Apob |
G |
A |
12: 8,065,390 (GRCm39) |
V4087I |
probably benign |
Het |
| Atp10b |
G |
A |
11: 43,150,363 (GRCm39) |
A1354T |
probably benign |
Het |
| Baz1a |
A |
G |
12: 54,976,404 (GRCm39) |
V424A |
probably benign |
Het |
| Cdc20b |
G |
A |
13: 113,200,819 (GRCm39) |
D180N |
probably benign |
Het |
| Cep57l1 |
G |
T |
10: 41,605,356 (GRCm39) |
R130S |
probably damaging |
Het |
| Ddb1 |
A |
G |
19: 10,605,171 (GRCm39) |
D1053G |
probably benign |
Het |
| Ddx39a |
T |
A |
8: 84,448,863 (GRCm39) |
M246K |
probably benign |
Het |
| Dip2a |
G |
A |
10: 76,114,441 (GRCm39) |
T1013M |
probably damaging |
Het |
| Edar |
G |
T |
10: 58,445,769 (GRCm39) |
T265N |
possibly damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,852,410 (GRCm39) |
V1311A |
possibly damaging |
Het |
| Gbp8 |
T |
A |
5: 105,179,104 (GRCm39) |
I132F |
probably damaging |
Het |
| Gga1 |
A |
G |
15: 78,775,691 (GRCm39) |
D382G |
probably benign |
Het |
| Ggps1 |
T |
C |
13: 14,228,284 (GRCm39) |
K300E |
probably benign |
Het |
| Gm10518 |
C |
A |
1: 179,631,378 (GRCm39) |
|
probably benign |
Het |
| Gm8074 |
G |
A |
9: 78,229,618 (GRCm39) |
|
noncoding transcript |
Het |
| H2-Eb1 |
T |
A |
17: 34,533,342 (GRCm39) |
L188Q |
probably damaging |
Het |
| Heatr6 |
A |
G |
11: 83,646,599 (GRCm39) |
S95G |
probably damaging |
Het |
| Hnf1a |
T |
A |
5: 115,108,633 (GRCm39) |
N91Y |
probably damaging |
Het |
| Kazn |
C |
T |
4: 141,834,215 (GRCm39) |
E614K |
unknown |
Het |
| Kif26a |
T |
A |
12: 112,146,350 (GRCm39) |
M1812K |
probably benign |
Het |
| Lmo7 |
A |
T |
14: 102,139,713 (GRCm39) |
K488* |
probably null |
Het |
| Mad1l1 |
A |
G |
5: 140,118,571 (GRCm39) |
S457P |
probably damaging |
Het |
| Met |
A |
G |
6: 17,533,983 (GRCm39) |
T645A |
probably benign |
Het |
| Mpp4 |
T |
C |
1: 59,185,903 (GRCm39) |
|
probably null |
Het |
| Mycl |
A |
T |
4: 122,890,632 (GRCm39) |
|
probably null |
Het |
| Ncbp1 |
G |
A |
4: 46,147,483 (GRCm39) |
R110H |
probably damaging |
Het |
| Nfasc |
G |
T |
1: 132,538,043 (GRCm39) |
|
probably benign |
Het |
| Nup35 |
A |
G |
2: 80,486,320 (GRCm39) |
I212V |
probably benign |
Het |
| Or2y8 |
T |
G |
11: 52,035,961 (GRCm39) |
Y132S |
probably damaging |
Het |
| Or4p20 |
A |
G |
2: 88,253,967 (GRCm39) |
M134T |
probably damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
| Ovgp1 |
A |
G |
3: 105,893,912 (GRCm39) |
|
probably benign |
Het |
| Pcgf5 |
G |
A |
19: 36,420,311 (GRCm39) |
S181N |
probably damaging |
Het |
| Plk2 |
C |
T |
13: 110,536,400 (GRCm39) |
T617I |
probably damaging |
Het |
| Polq |
A |
T |
16: 36,913,182 (GRCm39) |
|
probably null |
Het |
| Ppp1r1a |
A |
G |
15: 103,440,881 (GRCm39) |
L92P |
probably damaging |
Het |
| Pramel24 |
T |
C |
4: 143,453,692 (GRCm39) |
S267P |
probably benign |
Het |
| Prg4 |
G |
C |
1: 150,330,510 (GRCm39) |
|
probably benign |
Het |
| Prune1 |
T |
C |
3: 95,169,542 (GRCm39) |
K220R |
possibly damaging |
Het |
| Rab3gap2 |
G |
A |
1: 185,004,840 (GRCm39) |
|
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sall3 |
G |
A |
18: 81,014,697 (GRCm39) |
A1005V |
probably benign |
Het |
| Samd15 |
T |
G |
12: 87,247,406 (GRCm39) |
N30K |
probably benign |
Het |
| Scn8a |
A |
T |
15: 100,911,294 (GRCm39) |
K905* |
probably null |
Het |
| Scrib |
G |
A |
15: 75,923,322 (GRCm39) |
R1245W |
possibly damaging |
Het |
| Skint4 |
C |
T |
4: 111,981,811 (GRCm39) |
S260L |
probably benign |
Het |
| Slc29a2 |
A |
T |
19: 5,079,481 (GRCm39) |
M339L |
possibly damaging |
Het |
| Slx9 |
T |
C |
10: 77,350,164 (GRCm39) |
R75G |
possibly damaging |
Het |
| Spire1 |
G |
T |
18: 67,662,101 (GRCm39) |
|
probably null |
Het |
| Synpo2 |
T |
C |
3: 122,907,927 (GRCm39) |
D463G |
possibly damaging |
Het |
| Taf4 |
C |
A |
2: 179,573,805 (GRCm39) |
G688C |
probably damaging |
Het |
| Tasor2 |
A |
G |
13: 3,623,507 (GRCm39) |
S2148P |
probably benign |
Het |
| Tpte |
T |
A |
8: 22,856,000 (GRCm39) |
V600E |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,651,510 (GRCm39) |
V10953A |
probably benign |
Het |
| Vav2 |
T |
C |
2: 27,178,691 (GRCm39) |
Y333C |
probably benign |
Het |
| Vav2 |
A |
G |
2: 27,181,415 (GRCm39) |
S311P |
probably damaging |
Het |
| Zbtb26 |
A |
C |
2: 37,327,000 (GRCm39) |
M1R |
probably null |
Het |
| Zfp26 |
G |
A |
9: 20,353,525 (GRCm39) |
P88L |
probably benign |
Het |
| Zfp324 |
T |
C |
7: 12,704,794 (GRCm39) |
F328L |
probably damaging |
Het |
|
| Other mutations in Ints10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00743:Ints10
|
APN |
8 |
69,271,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00964:Ints10
|
APN |
8 |
69,264,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02326:Ints10
|
APN |
8 |
69,257,485 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0012:Ints10
|
UTSW |
8 |
69,260,127 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0112:Ints10
|
UTSW |
8 |
69,279,954 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1302:Ints10
|
UTSW |
8 |
69,279,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Ints10
|
UTSW |
8 |
69,260,296 (GRCm39) |
splice site |
probably benign |
|
|
R1540:Ints10
|
UTSW |
8 |
69,249,365 (GRCm39) |
splice site |
probably benign |
|
|
R1592:Ints10
|
UTSW |
8 |
69,255,555 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1845:Ints10
|
UTSW |
8 |
69,247,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2144:Ints10
|
UTSW |
8 |
69,249,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2323:Ints10
|
UTSW |
8 |
69,271,997 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3765:Ints10
|
UTSW |
8 |
69,277,771 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3910:Ints10
|
UTSW |
8 |
69,266,272 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3912:Ints10
|
UTSW |
8 |
69,266,272 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3913:Ints10
|
UTSW |
8 |
69,266,272 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4151:Ints10
|
UTSW |
8 |
69,247,250 (GRCm39) |
splice site |
probably null |
|
|
R4607:Ints10
|
UTSW |
8 |
69,263,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4608:Ints10
|
UTSW |
8 |
69,263,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4881:Ints10
|
UTSW |
8 |
69,263,256 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4911:Ints10
|
UTSW |
8 |
69,279,964 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5255:Ints10
|
UTSW |
8 |
69,246,624 (GRCm39) |
start gained |
probably benign |
|
|
R5331:Ints10
|
UTSW |
8 |
69,273,472 (GRCm39) |
splice site |
probably null |
|
|
R5461:Ints10
|
UTSW |
8 |
69,246,693 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5740:Ints10
|
UTSW |
8 |
69,257,574 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5741:Ints10
|
UTSW |
8 |
69,257,574 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6128:Ints10
|
UTSW |
8 |
69,274,904 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6465:Ints10
|
UTSW |
8 |
69,260,188 (GRCm39) |
missense |
probably benign |
|
|
R6868:Ints10
|
UTSW |
8 |
69,250,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6983:Ints10
|
UTSW |
8 |
69,246,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7076:Ints10
|
UTSW |
8 |
69,249,403 (GRCm39) |
nonsense |
probably null |
|
|
R7216:Ints10
|
UTSW |
8 |
69,274,809 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7652:Ints10
|
UTSW |
8 |
69,277,771 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8134:Ints10
|
UTSW |
8 |
69,255,638 (GRCm39) |
nonsense |
probably null |
|
|
R8176:Ints10
|
UTSW |
8 |
69,255,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8185:Ints10
|
UTSW |
8 |
69,249,370 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8964:Ints10
|
UTSW |
8 |
69,264,631 (GRCm39) |
missense |
probably benign |
|
|
R9015:Ints10
|
UTSW |
8 |
69,260,139 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9256:Ints10
|
UTSW |
8 |
69,261,129 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9320:Ints10
|
UTSW |
8 |
69,279,951 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9372:Ints10
|
UTSW |
8 |
69,271,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Ints10
|
UTSW |
8 |
69,261,126 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACGAATGGTCAGGAATGGTTATC -3'
(R):5'- CGGATTGACTTTTAAGCAACTAAGG -3'
Sequencing Primer
(F):5'- CGTGACTATACTTAGCTATGAGGCAG -3'
(R):5'- ACTAAGGGAGTTAGAACTTGGTG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation