Incidental Mutation 'R6080:Ints14'
| ID |
482890 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints14
|
| Ensembl Gene |
ENSMUSG00000034263 |
| Gene Name |
integrator complex subunit 14 |
| Synonyms |
2010321M09Rik, Vwa9 |
| MMRRC Submission |
044239-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.697)
|
| Stock # |
R6080 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
64868187-64894260 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 64874044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 99
(V99I)
|
| 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: V99I
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000049284
Gene: ENSMUSG00000034263
AA Change: V99I
| Domain | Start | End | E-Value | Type |
|---|
|
VWA
|
2 |
181 |
7.54e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170517
AA Change: V99I
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000127420
Gene: ENSMUSG00000034263
AA Change: V99I
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
C |
T |
14: 118,906,462 (GRCm39) |
M44I |
possibly damaging |
Het |
| Anks1b |
C |
A |
10: 90,802,211 (GRCm39) |
S1209* |
probably null |
Het |
| Atp9b |
A |
G |
18: 80,782,023 (GRCm39) |
V1039A |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,099,271 (GRCm39) |
S278P |
probably benign |
Het |
| Cep44 |
T |
C |
8: 56,992,876 (GRCm39) |
K246R |
possibly damaging |
Het |
| Cfap54 |
A |
T |
10: 92,881,197 (GRCm39) |
D330E |
possibly damaging |
Het |
| Dnah10 |
A |
T |
5: 124,882,961 (GRCm39) |
M2940L |
possibly damaging |
Het |
| Gm14326 |
T |
A |
2: 177,578,339 (GRCm39) |
T68S |
probably benign |
Het |
| Gm4922 |
A |
C |
10: 18,660,500 (GRCm39) |
I74S |
probably damaging |
Het |
| Lrp4 |
T |
C |
2: 91,332,345 (GRCm39) |
S1681P |
probably benign |
Het |
| Lrp5 |
T |
C |
19: 3,678,316 (GRCm39) |
E513G |
probably benign |
Het |
| Myh14 |
T |
A |
7: 44,305,035 (GRCm39) |
N252I |
probably damaging |
Het |
| Naga |
A |
G |
15: 82,219,048 (GRCm39) |
V233A |
probably benign |
Het |
| Npc1 |
C |
T |
18: 12,352,408 (GRCm39) |
C97Y |
probably damaging |
Het |
| Or4f15 |
T |
G |
2: 111,814,050 (GRCm39) |
Y123S |
probably damaging |
Het |
| Or52n4 |
T |
C |
7: 104,294,517 (GRCm39) |
I19V |
probably benign |
Het |
| Or56a3b |
T |
C |
7: 104,771,116 (GRCm39) |
F151L |
probably benign |
Het |
| Or9i2 |
C |
A |
19: 13,816,464 (GRCm39) |
L24F |
possibly damaging |
Het |
| Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
| Plag1 |
T |
C |
4: 3,903,815 (GRCm39) |
T459A |
probably benign |
Het |
| Rnase9 |
T |
C |
14: 51,276,727 (GRCm39) |
T84A |
probably benign |
Het |
| Rps6kb2 |
T |
A |
19: 4,208,671 (GRCm39) |
I282F |
probably benign |
Het |
| Smg5 |
A |
G |
3: 88,258,816 (GRCm39) |
T596A |
probably benign |
Het |
| Ugcg |
T |
C |
4: 59,218,524 (GRCm39) |
V256A |
possibly damaging |
Het |
| Vgll4 |
T |
C |
6: 114,898,299 (GRCm39) |
I21V |
probably benign |
Het |
| Vipas39 |
T |
A |
12: 87,288,727 (GRCm39) |
H426L |
probably damaging |
Het |
| Vmn1r224 |
A |
G |
17: 20,639,818 (GRCm39) |
T132A |
possibly damaging |
Het |
| Zc3h18 |
A |
G |
8: 123,143,283 (GRCm39) |
|
probably benign |
Het |
| Zfp606 |
T |
A |
7: 12,228,043 (GRCm39) |
N663K |
probably damaging |
Het |
| Zfp819 |
A |
G |
7: 43,266,120 (GRCm39) |
H201R |
probably benign |
Het |
| Zfp946 |
T |
A |
17: 22,674,090 (GRCm39) |
H281Q |
probably benign |
Het |
|
| Other mutations in Ints14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00546:Ints14
|
APN |
9 |
64,880,074 (GRCm39) |
missense |
probably benign |
0.30 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCACTGTATCCCCTTTGTAG -3'
(R):5'- GCTGGCTCATGTGCATATTAGC -3'
Sequencing Primer
(F):5'- GAACTCACTTTATAGACCAGGCTGG -3'
(R):5'- TCCAATACTGGGGCTTGAAC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation