Incidental Mutation 'R0027:Ints15'
| ID |
15075 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints15
|
| Ensembl Gene |
ENSMUSG00000039244 |
| Gene Name |
integrator complex subunit 15 |
| Synonyms |
E130309D02Rik |
| MMRRC Submission |
038322-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R0027 (G1)
of strain
730
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
143286950-143301115 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 143293817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 220
(T220I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041800
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046418]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046418
AA Change: T220I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000041800
Gene: ENSMUSG00000039244
AA Change: T220I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4507
|
2 |
380 |
4.8e-128 |
PFAM |
|
low complexity region
|
417 |
434 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159406
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160498
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162332
|
| Meta Mutation Damage Score |
0.6451 |
| Coding Region Coverage |
- 1x: 77.1%
- 3x: 64.8%
- 10x: 37.0%
- 20x: 19.3%
|
| Validation Efficiency |
92% (60/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
A |
T |
15: 11,285,959 (GRCm39) |
I723F |
probably damaging |
Het |
| Anapc1 |
G |
T |
2: 128,483,431 (GRCm39) |
D1221E |
possibly damaging |
Het |
| Arhgef28 |
T |
A |
13: 98,082,204 (GRCm39) |
E1201V |
possibly damaging |
Het |
| Cdkl3 |
C |
T |
11: 51,923,176 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Fam131b |
T |
A |
6: 42,295,182 (GRCm39) |
M304L |
probably benign |
Het |
| Kif11 |
C |
T |
19: 37,395,431 (GRCm39) |
|
probably benign |
Het |
| Lrpprc |
G |
A |
17: 85,074,435 (GRCm39) |
R491* |
probably null |
Het |
| Mbtd1 |
T |
C |
11: 93,815,375 (GRCm39) |
V321A |
possibly damaging |
Het |
| Mon2 |
G |
A |
10: 122,871,953 (GRCm39) |
S357L |
possibly damaging |
Het |
| Nopchap1 |
G |
A |
10: 83,200,393 (GRCm39) |
|
probably benign |
Het |
| Papola |
A |
C |
12: 105,799,395 (GRCm39) |
S675R |
probably benign |
Het |
| Pcdh9 |
T |
A |
14: 94,126,081 (GRCm39) |
I30F |
probably null |
Het |
| Prl6a1 |
T |
A |
13: 27,502,011 (GRCm39) |
L126Q |
probably damaging |
Het |
| Rad9b |
A |
G |
5: 122,489,786 (GRCm39) |
|
probably benign |
Het |
| Snrnp40 |
T |
A |
4: 130,262,066 (GRCm39) |
H151Q |
probably damaging |
Het |
| Stard9 |
A |
T |
2: 120,533,982 (GRCm39) |
Q3413L |
probably benign |
Het |
| Ubr4 |
C |
A |
4: 139,127,704 (GRCm39) |
N567K |
probably damaging |
Het |
|
| Other mutations in Ints15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02051:Ints15
|
APN |
5 |
143,293,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Nespresso
|
UTSW |
5 |
143,300,830 (GRCm39) |
nonsense |
probably null |
|
|
R0012:Ints15
|
UTSW |
5 |
143,299,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0027:Ints15
|
UTSW |
5 |
143,293,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0310:Ints15
|
UTSW |
5 |
143,293,643 (GRCm39) |
missense |
probably benign |
|
|
R2960:Ints15
|
UTSW |
5 |
143,293,776 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4646:Ints15
|
UTSW |
5 |
143,293,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4797:Ints15
|
UTSW |
5 |
143,297,504 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4898:Ints15
|
UTSW |
5 |
143,287,592 (GRCm39) |
missense |
probably benign |
|
|
R5091:Ints15
|
UTSW |
5 |
143,293,443 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5126:Ints15
|
UTSW |
5 |
143,293,701 (GRCm39) |
missense |
probably benign |
|
|
R5176:Ints15
|
UTSW |
5 |
143,300,830 (GRCm39) |
nonsense |
probably null |
|
|
R6297:Ints15
|
UTSW |
5 |
143,293,787 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6775:Ints15
|
UTSW |
5 |
143,297,493 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7193:Ints15
|
UTSW |
5 |
143,293,598 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7260:Ints15
|
UTSW |
5 |
143,297,594 (GRCm39) |
missense |
probably benign |
|
|
R7388:Ints15
|
UTSW |
5 |
143,297,600 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8082:Ints15
|
UTSW |
5 |
143,297,607 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8946:Ints15
|
UTSW |
5 |
143,300,795 (GRCm39) |
missense |
probably benign |
0.18 |
|
| Posted On |
2012-12-12 |
Incidental Mutation