Incidental Mutation 'R0012:Ints15'
| ID |
19120 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints15
|
| Ensembl Gene |
ENSMUSG00000039244 |
| Gene Name |
integrator complex subunit 15 |
| Synonyms |
E130309D02Rik |
| MMRRC Submission |
038307-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R0012 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
143286950-143301115 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 143299937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 137
(L137P)
|
| 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 damaging
Transcript: ENSMUST00000046418
AA Change: L137P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000041800
Gene: ENSMUSG00000039244
AA Change: L137P
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000160498
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162332
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200220
|
| Meta Mutation Damage Score |
0.8932 |
| Coding Region Coverage |
- 1x: 78.7%
- 3x: 69.0%
- 10x: 44.7%
- 20x: 26.0%
|
| Validation Efficiency |
91% (95/104) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adap1 |
A |
G |
5: 139,293,489 (GRCm39) |
|
probably benign |
Het |
| Bnip3 |
A |
G |
7: 138,500,401 (GRCm39) |
|
probably benign |
Het |
| Brwd1 |
A |
C |
16: 95,860,852 (GRCm39) |
S311R |
probably damaging |
Het |
| C2cd3 |
G |
A |
7: 100,067,729 (GRCm39) |
V871M |
possibly damaging |
Het |
| Chd2 |
G |
T |
7: 73,105,267 (GRCm39) |
T192K |
probably damaging |
Het |
| Chrna10 |
T |
C |
7: 101,764,264 (GRCm39) |
N40S |
possibly damaging |
Het |
| Copb1 |
T |
A |
7: 113,836,643 (GRCm39) |
K366N |
probably damaging |
Het |
| Dpysl4 |
T |
G |
7: 138,677,799 (GRCm39) |
I412S |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,153,697 (GRCm39) |
V3505A |
probably benign |
Het |
| Fbxo24 |
A |
G |
5: 137,620,256 (GRCm39) |
F101S |
probably damaging |
Het |
| Gcnt3 |
T |
C |
9: 69,941,367 (GRCm39) |
I400M |
probably benign |
Het |
| Gm2962 |
T |
A |
1: 170,752,908 (GRCm39) |
|
probably benign |
Het |
| Gsap |
T |
A |
5: 21,431,227 (GRCm39) |
|
probably benign |
Het |
| Hipk1 |
A |
G |
3: 103,670,996 (GRCm39) |
M467T |
probably damaging |
Het |
| Hmgb4 |
T |
A |
4: 128,154,518 (GRCm39) |
I17F |
probably damaging |
Het |
| Kif17 |
T |
G |
4: 138,021,059 (GRCm39) |
S606A |
probably damaging |
Het |
| Lypd4 |
A |
G |
7: 24,564,757 (GRCm39) |
L127P |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,862,279 (GRCm39) |
H2605R |
probably benign |
Het |
| Map3k4 |
A |
G |
17: 12,457,076 (GRCm39) |
S1289P |
probably damaging |
Het |
| Mob1b |
G |
A |
5: 88,903,943 (GRCm39) |
|
probably benign |
Het |
| Mthfd2l |
A |
T |
5: 91,109,242 (GRCm39) |
H224L |
probably damaging |
Het |
| Nectin2 |
T |
C |
7: 19,464,669 (GRCm39) |
|
probably benign |
Het |
| Rae1 |
T |
A |
2: 172,844,466 (GRCm39) |
F4I |
unknown |
Het |
| Ralgapa2 |
A |
G |
2: 146,254,672 (GRCm39) |
Y821H |
probably benign |
Het |
| Sharpin |
G |
T |
15: 76,232,543 (GRCm39) |
P156T |
possibly damaging |
Het |
| Slc38a4 |
C |
T |
15: 96,897,510 (GRCm39) |
R435H |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,070,469 (GRCm39) |
V1061A |
probably benign |
Het |
| Suclg1 |
A |
G |
6: 73,247,980 (GRCm39) |
T234A |
possibly damaging |
Het |
| Tet2 |
T |
C |
3: 133,182,319 (GRCm39) |
Y1215C |
probably damaging |
Het |
| Tjp1 |
A |
G |
7: 64,979,523 (GRCm39) |
|
probably benign |
Het |
| Tnpo3 |
T |
C |
6: 29,589,176 (GRCm39) |
E58G |
probably damaging |
Het |
| Trp53bp2 |
T |
A |
1: 182,272,283 (GRCm39) |
M464K |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,918,339 (GRCm39) |
S560G |
possibly damaging |
Het |
| Unc80 |
T |
C |
1: 66,546,550 (GRCm39) |
S541P |
probably damaging |
Het |
| Ushbp1 |
T |
C |
8: 71,847,684 (GRCm39) |
|
probably benign |
Het |
| Zfp644 |
T |
G |
5: 106,782,909 (GRCm39) |
E1155A |
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 |
|
|
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 |
2013-03-25 |
Incidental Mutation