Incidental Mutation 'R2960:Ints15'
| ID |
255876 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2960 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
143286950-143301115 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 143293776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 234
(F234I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041800
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046418]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046418
AA Change: F234I
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000041800
Gene: ENSMUSG00000039244
AA Change: F234I
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl5c |
A |
G |
11: 97,885,902 (GRCm39) |
L33P |
probably damaging |
Het |
| Auh |
A |
T |
13: 52,993,610 (GRCm39) |
I268N |
probably damaging |
Het |
| Cimap2 |
A |
G |
4: 106,470,615 (GRCm39) |
S186P |
probably damaging |
Het |
| Defa25 |
A |
T |
8: 21,575,273 (GRCm39) |
H84L |
probably benign |
Het |
| Endou |
T |
C |
15: 97,611,687 (GRCm39) |
Y317C |
probably damaging |
Het |
| Fmn2 |
C |
T |
1: 174,437,385 (GRCm39) |
L1119F |
probably damaging |
Het |
| Glyat |
T |
A |
19: 12,617,214 (GRCm39) |
L22H |
probably damaging |
Het |
| Gpd2 |
C |
T |
2: 57,228,987 (GRCm39) |
R264* |
probably null |
Het |
| Grb7 |
C |
T |
11: 98,343,087 (GRCm39) |
T268I |
probably damaging |
Het |
| Itfg2 |
G |
A |
6: 128,390,515 (GRCm39) |
A190V |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Mdga2 |
G |
T |
12: 66,676,752 (GRCm39) |
Y513* |
probably null |
Het |
| Med8 |
A |
G |
4: 118,271,944 (GRCm39) |
T222A |
probably damaging |
Het |
| Nup43 |
T |
C |
10: 7,546,713 (GRCm39) |
V111A |
probably benign |
Het |
| Or9s14 |
A |
G |
1: 92,536,050 (GRCm39) |
I164V |
probably benign |
Het |
| Rfx3 |
G |
A |
19: 27,878,211 (GRCm39) |
Q29* |
probably null |
Het |
| Rfx8 |
A |
G |
1: 39,722,112 (GRCm39) |
V291A |
probably damaging |
Het |
| Scnn1a |
A |
G |
6: 125,299,256 (GRCm39) |
Y112C |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tmx3 |
T |
C |
18: 90,551,116 (GRCm39) |
V252A |
probably damaging |
Het |
| Vmn1r216 |
A |
G |
13: 23,284,103 (GRCm39) |
D262G |
probably benign |
Het |
| Vmn1r9 |
A |
G |
6: 57,048,657 (GRCm39) |
D244G |
possibly damaging |
Het |
| Xkr6 |
T |
A |
14: 63,844,586 (GRCm39) |
M203K |
possibly damaging |
Het |
| Zfr |
G |
A |
15: 12,162,319 (GRCm39) |
R823H |
probably benign |
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 |
|
R0027:Ints15
|
UTSW |
5 |
143,293,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0310:Ints15
|
UTSW |
5 |
143,293,643 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGGTCGAACAGGATGAGC -3'
(R):5'- GACACGAAGGCTCTAAACTCGG -3'
Sequencing Primer
(F):5'- TCATGAGGACCTGCAGGAC -3'
(R):5'- TCTAAACTCGGGGGCCC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation