Incidental Mutation 'IGL02896:Tent2'
| ID |
363407 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tent2
|
| Ensembl Gene |
ENSMUSG00000042167 |
| Gene Name |
terminal nucleotidyltransferase 2 |
| Synonyms |
8030446C20Rik, Papd4 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.383)
|
| Stock # |
IGL02896
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
93282790-93328893 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 93304945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 280
(N280K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153703
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048702]
[ENSMUST00000225868]
|
| AlphaFold |
Q91YI6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048702
AA Change: N284K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048124
Gene: ENSMUSG00000042167
AA Change: N284K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
134 |
147 |
N/A |
INTRINSIC |
|
Pfam:PAP_assoc
|
386 |
440 |
1.5e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225868
AA Change: N280K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226081
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele reuslts in disruption in polyadenylation in oocytes and somatic cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402J07Rik |
A |
G |
8: 88,315,648 (GRCm39) |
D246G |
probably damaging |
Het |
| Adcy2 |
A |
G |
13: 68,875,991 (GRCm39) |
S504P |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,668,858 (GRCm39) |
I2566K |
probably damaging |
Het |
| Als2 |
A |
G |
1: 59,222,946 (GRCm39) |
V1108A |
probably benign |
Het |
| Atad2b |
T |
A |
12: 5,008,151 (GRCm39) |
F466I |
probably damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,635,886 (GRCm39) |
M226V |
probably damaging |
Het |
| D5Ertd579e |
T |
C |
5: 36,771,326 (GRCm39) |
D1023G |
possibly damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,059,205 (GRCm39) |
I232V |
probably benign |
Het |
| Dolpp1 |
T |
C |
2: 30,286,242 (GRCm39) |
S114P |
probably damaging |
Het |
| Fars2 |
T |
A |
13: 36,388,825 (GRCm39) |
S105T |
probably benign |
Het |
| Fndc7 |
T |
C |
3: 108,770,247 (GRCm39) |
I560V |
probably benign |
Het |
| Gcn1 |
T |
C |
5: 115,757,707 (GRCm39) |
|
probably benign |
Het |
| Gm5134 |
T |
C |
10: 75,810,058 (GRCm39) |
L113P |
possibly damaging |
Het |
| Hipk2 |
G |
T |
6: 38,675,382 (GRCm39) |
H1066Q |
probably damaging |
Het |
| Katnb1 |
A |
G |
8: 95,822,656 (GRCm39) |
|
probably benign |
Het |
| Lrrd1 |
T |
A |
5: 3,901,473 (GRCm39) |
S593T |
probably benign |
Het |
| Mastl |
T |
C |
2: 23,021,779 (GRCm39) |
R713G |
probably damaging |
Het |
| Meak7 |
T |
C |
8: 120,489,164 (GRCm39) |
D373G |
probably damaging |
Het |
| Mrgpra6 |
T |
A |
7: 46,838,655 (GRCm39) |
D181V |
probably benign |
Het |
| Mroh7 |
C |
T |
4: 106,557,013 (GRCm39) |
V828I |
possibly damaging |
Het |
| Nbeal2 |
A |
G |
9: 110,468,360 (GRCm39) |
|
probably null |
Het |
| Nckap5l |
G |
T |
15: 99,325,091 (GRCm39) |
Q471K |
possibly damaging |
Het |
| Or12j5 |
T |
C |
7: 140,083,968 (GRCm39) |
|
probably null |
Het |
| Or1j15 |
A |
T |
2: 36,459,217 (GRCm39) |
L202F |
possibly damaging |
Het |
| Or5an1c |
A |
T |
19: 12,218,353 (GRCm39) |
L224* |
probably null |
Het |
| Pfn4 |
A |
G |
12: 4,825,451 (GRCm39) |
N96S |
probably benign |
Het |
| Ppp1r3c |
G |
A |
19: 36,710,865 (GRCm39) |
P302S |
probably benign |
Het |
| Senp2 |
T |
G |
16: 21,837,118 (GRCm39) |
Y122* |
probably null |
Het |
| Slc5a7 |
C |
A |
17: 54,600,045 (GRCm39) |
G123* |
probably null |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Th |
C |
T |
7: 142,449,168 (GRCm39) |
R289Q |
probably damaging |
Het |
| Tigit |
C |
T |
16: 43,482,561 (GRCm39) |
V58I |
probably benign |
Het |
| Ush1c |
C |
A |
7: 45,847,839 (GRCm39) |
V810L |
probably benign |
Het |
| Vmn2r120 |
C |
A |
17: 57,816,008 (GRCm39) |
K782N |
probably damaging |
Het |
|
| Other mutations in Tent2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00823:Tent2
|
APN |
13 |
93,322,905 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02312:Tent2
|
APN |
13 |
93,312,041 (GRCm39) |
missense |
probably benign |
|
|
IGL02802:Tent2
|
UTSW |
13 |
93,285,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Tent2
|
UTSW |
13 |
93,312,123 (GRCm39) |
splice site |
probably benign |
|
|
R0568:Tent2
|
UTSW |
13 |
93,291,500 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0733:Tent2
|
UTSW |
13 |
93,291,547 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1136:Tent2
|
UTSW |
13 |
93,312,205 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1537:Tent2
|
UTSW |
13 |
93,312,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1603:Tent2
|
UTSW |
13 |
93,312,073 (GRCm39) |
missense |
probably benign |
|
|
R2508:Tent2
|
UTSW |
13 |
93,320,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4920:Tent2
|
UTSW |
13 |
93,322,833 (GRCm39) |
nonsense |
probably null |
|
|
R5881:Tent2
|
UTSW |
13 |
93,312,246 (GRCm39) |
nonsense |
probably null |
|
|
R5916:Tent2
|
UTSW |
13 |
93,312,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6333:Tent2
|
UTSW |
13 |
93,322,821 (GRCm39) |
nonsense |
probably null |
|
|
R6783:Tent2
|
UTSW |
13 |
93,291,527 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6783:Tent2
|
UTSW |
13 |
93,291,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8162:Tent2
|
UTSW |
13 |
93,304,432 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8262:Tent2
|
UTSW |
13 |
93,310,997 (GRCm39) |
intron |
probably benign |
|
|
R8264:Tent2
|
UTSW |
13 |
93,312,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9124:Tent2
|
UTSW |
13 |
93,284,160 (GRCm39) |
nonsense |
probably null |
|
|
R9518:Tent2
|
UTSW |
13 |
93,320,612 (GRCm39) |
missense |
probably benign |
|
|
R9599:Tent2
|
UTSW |
13 |
93,322,821 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Posted On |
2015-12-18 |
Incidental Mutation