Incidental Mutation 'IGL00546:Ints14'
| ID |
6166 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ints14
|
| Ensembl Gene |
ENSMUSG00000034263 |
| Gene Name |
integrator complex subunit 14 |
| Synonyms |
2010321M09Rik, Vwa9 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.731)
|
| Stock # |
IGL00546
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
64868187-64894260 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 64880074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 196
(N196I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037504]
[ENSMUST00000170517]
|
| AlphaFold |
Q8R3P6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037504
AA Change: N196I
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000049284
Gene: ENSMUSG00000034263
AA Change: N196I
| Domain | Start | End | E-Value | Type |
|---|
|
VWA
|
2 |
181 |
7.54e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170517
AA Change: N196I
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000127420
Gene: ENSMUSG00000034263
AA Change: N196I
| Domain | Start | End | E-Value | Type |
|---|
|
VWA
|
2 |
181 |
7.54e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175378
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215789
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
T |
C |
17: 48,401,096 (GRCm39) |
V127A |
possibly damaging |
Het |
| 9130008F23Rik |
C |
A |
17: 41,191,004 (GRCm39) |
V142L |
possibly damaging |
Het |
| Adnp2 |
T |
C |
18: 80,172,082 (GRCm39) |
T776A |
probably benign |
Het |
| Arid4a |
T |
A |
12: 71,122,445 (GRCm39) |
V942E |
probably benign |
Het |
| Bdnf |
C |
T |
2: 109,553,892 (GRCm39) |
P89S |
probably benign |
Het |
| Camsap3 |
A |
G |
8: 3,652,077 (GRCm39) |
D302G |
probably damaging |
Het |
| Cnot6 |
A |
T |
11: 49,576,093 (GRCm39) |
S158T |
probably benign |
Het |
| Dbt |
A |
C |
3: 116,332,930 (GRCm39) |
K250Q |
probably benign |
Het |
| Exd2 |
A |
G |
12: 80,527,321 (GRCm39) |
I171M |
probably benign |
Het |
| Krt79 |
G |
T |
15: 101,838,308 (GRCm39) |
N482K |
probably benign |
Het |
| Loxhd1 |
G |
A |
18: 77,493,672 (GRCm39) |
A678T |
probably damaging |
Het |
| Mrpl51 |
A |
G |
6: 125,170,177 (GRCm39) |
|
probably benign |
Het |
| Mrtfb |
C |
A |
16: 13,221,086 (GRCm39) |
A754D |
probably benign |
Het |
| Mrtfb |
T |
G |
16: 13,221,089 (GRCm39) |
L766R |
possibly damaging |
Het |
| Nipsnap1 |
A |
G |
11: 4,839,098 (GRCm39) |
E126G |
possibly damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,046,569 (GRCm39) |
|
probably benign |
Het |
| Semp2l1 |
A |
T |
1: 32,585,748 (GRCm39) |
M54K |
probably benign |
Het |
| Slc15a5 |
A |
G |
6: 138,020,536 (GRCm39) |
Y266H |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,697,817 (GRCm39) |
D73Y |
probably damaging |
Het |
|
| Other mutations in Ints14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0376:Ints14
|
UTSW |
9 |
64,891,272 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0589:Ints14
|
UTSW |
9 |
64,887,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0614:Ints14
|
UTSW |
9 |
64,871,715 (GRCm39) |
missense |
probably benign |
|
|
R0708:Ints14
|
UTSW |
9 |
64,891,266 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1192:Ints14
|
UTSW |
9 |
64,874,045 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2114:Ints14
|
UTSW |
9 |
64,887,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2115:Ints14
|
UTSW |
9 |
64,887,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2117:Ints14
|
UTSW |
9 |
64,887,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2484:Ints14
|
UTSW |
9 |
64,893,366 (GRCm39) |
missense |
probably benign |
|
|
R4811:Ints14
|
UTSW |
9 |
64,871,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4953:Ints14
|
UTSW |
9 |
64,889,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5067:Ints14
|
UTSW |
9 |
64,871,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6080:Ints14
|
UTSW |
9 |
64,874,044 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6326:Ints14
|
UTSW |
9 |
64,871,719 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6395:Ints14
|
UTSW |
9 |
64,885,406 (GRCm39) |
splice site |
probably null |
|
|
R7036:Ints14
|
UTSW |
9 |
64,871,827 (GRCm39) |
missense |
probably benign |
|
|
R7147:Ints14
|
UTSW |
9 |
64,891,267 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7203:Ints14
|
UTSW |
9 |
64,871,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8171:Ints14
|
UTSW |
9 |
64,880,532 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9390:Ints14
|
UTSW |
9 |
64,891,314 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9561:Ints14
|
UTSW |
9 |
64,882,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9700:Ints14
|
UTSW |
9 |
64,880,007 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation