Incidental Mutation 'R6775:Ints15'
| ID |
532327 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints15
|
| Ensembl Gene |
ENSMUSG00000039244 |
| Gene Name |
integrator complex subunit 15 |
| Synonyms |
E130309D02Rik |
| MMRRC Submission |
044891-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R6775 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
143286950-143301115 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 143297493 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 185
(V185L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041800
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001900]
[ENSMUST00000046418]
[ENSMUST00000159813]
[ENSMUST00000161915]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001900
|
| SMART Domains |
Protein: ENSMUSP00000001900
Gene: ENSMUSG00000001844
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
|
transmembrane domain
|
68 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
110 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
112 |
294 |
5e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046418
AA Change: V185L
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000041800
Gene: ENSMUSG00000039244
AA Change: V185L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4507
|
2 |
380 |
4.8e-128 |
PFAM |
|
low complexity region
|
417 |
434 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159813
|
| SMART Domains |
Protein: ENSMUSP00000137935
Gene: ENSMUSG00000001844
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
|
transmembrane domain
|
68 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
110 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
112 |
175 |
3.6e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161915
|
| SMART Domains |
Protein: ENSMUSP00000124813
Gene: ENSMUSG00000001844
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
|
transmembrane domain
|
68 |
90 |
N/A |
INTRINSIC |
|
transmembrane domain
|
100 |
122 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
144 |
294 |
9.7e-37 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
G |
A |
13: 104,450,160 (GRCm39) |
V289M |
probably damaging |
Het |
| Atp10b |
A |
G |
11: 43,113,040 (GRCm39) |
D862G |
possibly damaging |
Het |
| Ccn6 |
T |
C |
10: 39,027,351 (GRCm39) |
T294A |
probably damaging |
Het |
| Colec10 |
A |
G |
15: 54,298,419 (GRCm39) |
E60G |
possibly damaging |
Het |
| Cpne1 |
A |
G |
2: 155,920,340 (GRCm39) |
V179A |
probably damaging |
Het |
| Galnt9 |
G |
A |
5: 110,768,465 (GRCm39) |
R587H |
probably damaging |
Het |
| Gmip |
A |
G |
8: 70,268,285 (GRCm39) |
D423G |
possibly damaging |
Het |
| Klk1b24 |
A |
G |
7: 43,840,889 (GRCm39) |
M106V |
probably benign |
Het |
| Or14c39 |
A |
G |
7: 86,344,357 (GRCm39) |
E231G |
probably benign |
Het |
| Or7g30 |
A |
T |
9: 19,352,718 (GRCm39) |
T170S |
possibly damaging |
Het |
| Or8k40 |
G |
A |
2: 86,584,921 (GRCm39) |
R54C |
probably damaging |
Het |
| Orc1 |
T |
A |
4: 108,460,652 (GRCm39) |
F496I |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Phf11b |
A |
T |
14: 59,576,094 (GRCm39) |
N47K |
probably benign |
Het |
| Plscr4 |
G |
A |
9: 92,364,858 (GRCm39) |
M94I |
probably benign |
Het |
| Ppip5k2 |
A |
T |
1: 97,647,585 (GRCm39) |
V1047E |
possibly damaging |
Het |
| Scn3a |
A |
G |
2: 65,352,159 (GRCm39) |
Y384H |
possibly damaging |
Het |
| Sgpp1 |
G |
C |
12: 75,782,243 (GRCm39) |
P32R |
probably benign |
Het |
| Smc1b |
T |
C |
15: 84,973,881 (GRCm39) |
E925G |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 42,003,748 (GRCm39) |
Y183H |
possibly damaging |
Het |
| Tarbp1 |
A |
C |
8: 127,163,568 (GRCm39) |
D1151E |
probably benign |
Het |
| Vmn2r3 |
T |
C |
3: 64,183,039 (GRCm39) |
H220R |
possibly damaging |
Het |
| Wdr5 |
A |
G |
2: 27,423,386 (GRCm39) |
Y260C |
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 |
|
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 |
|
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'- AAGTCAGTGGCAAGGGTCTG -3'
(R):5'- CTTTACACGCAGCTGTCACCTG -3'
Sequencing Primer
(F):5'- TGGACCATGTGTAACTCTAGC -3'
(R):5'- AGCTCAGGGTTCCTCAGTGAC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation