Incidental Mutation 'IGL02222:Tent5b'
ID |
285178 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tent5b
|
Ensembl Gene |
ENSMUSG00000046694 |
Gene Name |
terminal nucleotidyltransferase 5B |
Synonyms |
4732473B16Rik, Fam46b |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.178)
|
Stock # |
IGL02222
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
133207443-133215249 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 133213864 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 245
(V245A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056015
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051676]
[ENSMUST00000125541]
|
AlphaFold |
Q8C152 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000051676
AA Change: V245A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000056015 Gene: ENSMUSG00000046694 AA Change: V245A
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
44 |
N/A |
INTRINSIC |
DUF1693
|
52 |
372 |
2.52e-218 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123169
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125541
|
SMART Domains |
Protein: ENSMUSP00000129613 Gene: ENSMUSG00000056596
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
54 |
N/A |
INTRINSIC |
low complexity region
|
72 |
124 |
N/A |
INTRINSIC |
low complexity region
|
131 |
144 |
N/A |
INTRINSIC |
low complexity region
|
164 |
189 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132840
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
A |
1: 71,322,045 (GRCm39) |
R1682W |
probably benign |
Het |
Angptl6 |
A |
T |
9: 20,785,203 (GRCm39) |
M450K |
probably damaging |
Het |
Armc12 |
C |
A |
17: 28,757,694 (GRCm39) |
N275K |
probably damaging |
Het |
Cd27 |
T |
C |
6: 125,211,495 (GRCm39) |
H144R |
probably damaging |
Het |
Cenpf |
T |
C |
1: 189,386,641 (GRCm39) |
K1880E |
probably benign |
Het |
Dchs1 |
A |
T |
7: 105,414,094 (GRCm39) |
I907N |
probably damaging |
Het |
Dpy19l4 |
A |
C |
4: 11,281,116 (GRCm39) |
F443C |
possibly damaging |
Het |
Eif3i |
C |
T |
4: 129,485,881 (GRCm39) |
D315N |
possibly damaging |
Het |
Fam217a |
A |
G |
13: 35,095,102 (GRCm39) |
L128P |
probably damaging |
Het |
Fetub |
C |
T |
16: 22,751,078 (GRCm39) |
L62F |
probably damaging |
Het |
Fmn1 |
A |
T |
2: 113,423,454 (GRCm39) |
I1047F |
probably damaging |
Het |
G2e3 |
A |
G |
12: 51,410,016 (GRCm39) |
H267R |
probably damaging |
Het |
Gigyf2 |
A |
G |
1: 87,338,585 (GRCm39) |
|
probably null |
Het |
Gm10650 |
T |
C |
3: 127,833,789 (GRCm39) |
|
noncoding transcript |
Het |
Grip1 |
C |
T |
10: 119,835,714 (GRCm39) |
T470I |
probably damaging |
Het |
Hmcn1 |
T |
G |
1: 150,682,152 (GRCm39) |
D466A |
probably benign |
Het |
Lrrc63 |
T |
C |
14: 75,323,580 (GRCm39) |
Y548C |
probably damaging |
Het |
Naaa |
T |
C |
5: 92,407,409 (GRCm39) |
|
probably benign |
Het |
Parpbp |
T |
A |
10: 87,975,947 (GRCm39) |
E55D |
possibly damaging |
Het |
Pnpt1 |
A |
T |
11: 29,109,327 (GRCm39) |
D691V |
possibly damaging |
Het |
Pnpt1 |
G |
A |
11: 29,080,842 (GRCm39) |
A29T |
probably benign |
Het |
Pramel11 |
A |
G |
4: 143,622,416 (GRCm39) |
M313T |
possibly damaging |
Het |
Psg25 |
T |
C |
7: 18,263,652 (GRCm39) |
N57S |
probably damaging |
Het |
Selenbp2 |
T |
A |
3: 94,607,269 (GRCm39) |
V168E |
probably damaging |
Het |
Syne2 |
G |
A |
12: 75,999,617 (GRCm39) |
E2337K |
probably damaging |
Het |
Synj2 |
A |
G |
17: 6,087,755 (GRCm39) |
T1269A |
probably benign |
Het |
Tnfrsf13c |
C |
A |
15: 82,107,364 (GRCm39) |
V144L |
probably damaging |
Het |
Uspl1 |
G |
T |
5: 149,130,854 (GRCm39) |
V132L |
probably benign |
Het |
Vmn2r58 |
T |
A |
7: 41,513,449 (GRCm39) |
Y398F |
possibly damaging |
Het |
Vps13a |
T |
A |
19: 16,659,539 (GRCm39) |
T1663S |
probably benign |
Het |
Ythdc1 |
G |
A |
5: 86,975,902 (GRCm39) |
R503H |
possibly damaging |
Het |
|
Other mutations in Tent5b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01730:Tent5b
|
APN |
4 |
133,213,833 (GRCm39) |
splice site |
probably null |
|
IGL01871:Tent5b
|
APN |
4 |
133,213,620 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02218:Tent5b
|
APN |
4 |
133,213,462 (GRCm39) |
missense |
probably damaging |
1.00 |
R0345:Tent5b
|
UTSW |
4 |
133,213,522 (GRCm39) |
missense |
probably benign |
0.01 |
R0515:Tent5b
|
UTSW |
4 |
133,213,450 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0843:Tent5b
|
UTSW |
4 |
133,213,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R1240:Tent5b
|
UTSW |
4 |
133,213,815 (GRCm39) |
missense |
probably benign |
0.01 |
R2042:Tent5b
|
UTSW |
4 |
133,213,924 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4328:Tent5b
|
UTSW |
4 |
133,213,914 (GRCm39) |
nonsense |
probably null |
|
R4811:Tent5b
|
UTSW |
4 |
133,213,681 (GRCm39) |
missense |
probably benign |
0.01 |
R4868:Tent5b
|
UTSW |
4 |
133,213,393 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5056:Tent5b
|
UTSW |
4 |
133,207,749 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6360:Tent5b
|
UTSW |
4 |
133,214,067 (GRCm39) |
missense |
probably damaging |
0.99 |
R6454:Tent5b
|
UTSW |
4 |
133,207,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R7017:Tent5b
|
UTSW |
4 |
133,213,545 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7186:Tent5b
|
UTSW |
4 |
133,213,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R7315:Tent5b
|
UTSW |
4 |
133,214,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R8410:Tent5b
|
UTSW |
4 |
133,214,362 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9093:Tent5b
|
UTSW |
4 |
133,214,352 (GRCm39) |
missense |
probably damaging |
0.99 |
R9361:Tent5b
|
UTSW |
4 |
133,213,461 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Tent5b
|
UTSW |
4 |
133,213,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |