Incidental Mutation 'R0515:Tent5b'
ID |
48180 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tent5b
|
Ensembl Gene |
ENSMUSG00000046694 |
Gene Name |
terminal nucleotidyltransferase 5B |
Synonyms |
4732473B16Rik, Fam46b |
MMRRC Submission |
038709-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
R0515 (G1)
|
Quality Score |
95 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
133207443-133215249 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 133213450 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 107
(H107L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056015
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051676]
[ENSMUST00000125541]
|
AlphaFold |
Q8C152 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051676
AA Change: H107L
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000056015 Gene: ENSMUSG00000046694 AA Change: H107L
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
|
Meta Mutation Damage Score |
0.4847 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
Validation Efficiency |
98% (40/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
App |
C |
T |
16: 84,900,232 (GRCm39) |
|
probably benign |
Het |
Arhgap11a |
G |
A |
2: 113,667,816 (GRCm39) |
T395I |
possibly damaging |
Het |
Arhgef38 |
T |
G |
3: 132,855,301 (GRCm39) |
H262P |
probably damaging |
Het |
Cd96 |
A |
G |
16: 45,884,268 (GRCm39) |
|
probably benign |
Het |
Cfap57 |
A |
G |
4: 118,477,599 (GRCm39) |
S2P |
probably damaging |
Het |
Cltc |
A |
G |
11: 86,599,865 (GRCm39) |
S948P |
probably benign |
Het |
Cyp3a41a |
A |
T |
5: 145,654,810 (GRCm39) |
H30Q |
probably damaging |
Het |
Dcp2 |
C |
T |
18: 44,532,798 (GRCm39) |
L105F |
probably benign |
Het |
Dennd4c |
T |
C |
4: 86,731,703 (GRCm39) |
V887A |
possibly damaging |
Het |
Dnaaf9 |
A |
G |
2: 130,582,408 (GRCm39) |
V515A |
probably damaging |
Het |
Gm11360 |
T |
A |
13: 28,140,143 (GRCm39) |
D2E |
probably damaging |
Het |
Gpank1 |
G |
T |
17: 35,342,475 (GRCm39) |
A149S |
probably damaging |
Het |
Gtf2i |
C |
A |
5: 134,271,773 (GRCm39) |
S792I |
probably damaging |
Het |
Hvcn1 |
A |
G |
5: 122,371,582 (GRCm39) |
N41D |
probably damaging |
Het |
Klk1b5 |
A |
G |
7: 43,867,957 (GRCm39) |
Y43C |
probably damaging |
Het |
Lmtk2 |
A |
G |
5: 144,111,809 (GRCm39) |
D843G |
possibly damaging |
Het |
Lrriq1 |
A |
T |
10: 102,904,829 (GRCm39) |
|
probably null |
Het |
Mapk8ip1 |
A |
T |
2: 92,217,701 (GRCm39) |
I198N |
possibly damaging |
Het |
Mill1 |
T |
C |
7: 17,998,798 (GRCm39) |
V336A |
probably benign |
Het |
Mroh7 |
T |
A |
4: 106,548,861 (GRCm39) |
M1001L |
probably benign |
Het |
Nfe2 |
T |
A |
15: 103,157,854 (GRCm39) |
T46S |
probably null |
Het |
Or8b40 |
T |
C |
9: 38,027,313 (GRCm39) |
S74P |
probably damaging |
Het |
Or9q1 |
T |
C |
19: 13,805,185 (GRCm39) |
S192G |
probably damaging |
Het |
Parp4 |
T |
C |
14: 56,851,124 (GRCm39) |
V709A |
probably damaging |
Het |
Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
Prex2 |
A |
T |
1: 11,270,098 (GRCm39) |
Q1261L |
probably damaging |
Het |
Prl8a8 |
T |
A |
13: 27,692,350 (GRCm39) |
I214L |
probably damaging |
Het |
Rictor |
C |
T |
15: 6,798,782 (GRCm39) |
T343M |
probably damaging |
Het |
Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
Siglecf |
T |
C |
7: 43,005,055 (GRCm39) |
|
probably null |
Het |
Slco1b2 |
T |
C |
6: 141,615,136 (GRCm39) |
F347S |
possibly damaging |
Het |
Sox13 |
A |
T |
1: 133,311,457 (GRCm39) |
Y592N |
probably damaging |
Het |
Synj1 |
C |
T |
16: 90,790,910 (GRCm39) |
A84T |
possibly damaging |
Het |
Trpv5 |
T |
A |
6: 41,651,145 (GRCm39) |
|
probably benign |
Het |
Tshz1 |
A |
G |
18: 84,034,090 (GRCm39) |
V106A |
probably benign |
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 |
IGL02222:Tent5b
|
APN |
4 |
133,213,864 (GRCm39) |
missense |
probably damaging |
0.99 |
R0345:Tent5b
|
UTSW |
4 |
133,213,522 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCCTTCTCCAGATTGGCAAATCG -3'
(R):5'- GCACACTTTGACCAGCTTCTGCAC -3'
Sequencing Primer
(F):5'- TTGGCAAATCGAGGCTTAGC -3'
(R):5'- AGCTTCTGCACGTAGGCTTC -3'
|
Posted On |
2013-06-12 |