Incidental Mutation 'IGL02051:Ints15'
| ID |
186115 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ints15
|
| Ensembl Gene |
ENSMUSG00000039244 |
| Gene Name |
integrator complex subunit 15 |
| Synonyms |
E130309D02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
IGL02051
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
143286950-143301115 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 143293737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 247
(C247R)
|
| 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: C247R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000041800
Gene: ENSMUSG00000039244
AA Change: C247R
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacul1 |
T |
C |
19: 60,531,504 (GRCm39) |
D255G |
probably damaging |
Het |
| Chi3l1 |
T |
C |
1: 134,111,887 (GRCm39) |
S94P |
probably damaging |
Het |
| Defa38 |
A |
G |
8: 21,585,275 (GRCm39) |
|
probably benign |
Het |
| Dzip3 |
T |
C |
16: 48,792,617 (GRCm39) |
T223A |
probably benign |
Het |
| Firrm |
T |
C |
1: 163,785,091 (GRCm39) |
T763A |
probably benign |
Het |
| Gfra3 |
T |
C |
18: 34,828,894 (GRCm39) |
T167A |
possibly damaging |
Het |
| Glb1l3 |
T |
C |
9: 26,736,464 (GRCm39) |
I533V |
probably benign |
Het |
| Gm11437 |
T |
A |
11: 84,043,592 (GRCm39) |
Q233L |
probably benign |
Het |
| Hif1an |
A |
G |
19: 44,551,829 (GRCm39) |
Y93C |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,295,700 (GRCm39) |
|
probably benign |
Het |
| Mak |
G |
A |
13: 41,195,558 (GRCm39) |
A385V |
probably benign |
Het |
| Mical2 |
G |
T |
7: 111,980,597 (GRCm39) |
K190N |
probably benign |
Het |
| Moxd1 |
A |
G |
10: 24,128,916 (GRCm39) |
|
probably null |
Het |
| Ptpn5 |
A |
G |
7: 46,732,507 (GRCm39) |
|
probably null |
Het |
| Ryr1 |
A |
G |
7: 28,771,083 (GRCm39) |
Y2614H |
probably benign |
Het |
| Sema3e |
T |
A |
5: 14,274,324 (GRCm39) |
Y192N |
possibly damaging |
Het |
| Smpd4 |
T |
C |
16: 17,444,382 (GRCm39) |
L145P |
probably damaging |
Het |
| Tesk2 |
A |
G |
4: 116,608,381 (GRCm39) |
E101G |
probably damaging |
Het |
| Vmn1r68 |
A |
T |
7: 10,261,948 (GRCm39) |
V50E |
probably benign |
Het |
| Vpreb3 |
G |
A |
10: 75,784,244 (GRCm39) |
|
probably null |
Het |
| Vps72 |
T |
C |
3: 95,030,040 (GRCm39) |
L353P |
possibly damaging |
Het |
|
| Other mutations in Ints15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation