Incidental Mutation 'R9604:Tent5a'
| ID |
723834 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tent5a
|
| Ensembl Gene |
ENSMUSG00000032265 |
| Gene Name |
terminal nucleotidyltransferase 5A |
| Synonyms |
Fam46a, BAP014, D930050G01Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.341)
|
| Stock # |
R9604 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
85202492-85209203 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 85206677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 374
(V374L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034802]
[ENSMUST00000187711]
|
| AlphaFold |
D3Z5S8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034802
AA Change: V393L
PolyPhen 2
Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000034802
Gene: ENSMUSG00000032265
AA Change: V393L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
55 |
N/A |
INTRINSIC |
|
DUF1693
|
71 |
389 |
8.01e-244 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187711
AA Change: V374L
PolyPhen 2
Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000140869
Gene: ENSMUSG00000032265
AA Change: V374L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
36 |
N/A |
INTRINSIC |
|
DUF1693
|
52 |
370 |
3.9e-248 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygotes for an ENU-induced allele show partial lethality, high alkaline phosphatase (ALP) activity, short stature, and limb, long bone, rib, pelvis and skull anomalies, with absent trabeculae and reduced cortical thickness in long bones. Heterozygotes show high ALP activity but no other defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
A |
G |
16: 56,597,570 (GRCm39) |
F79S |
probably damaging |
Het |
| Ankrd60 |
A |
T |
2: 173,412,987 (GRCm39) |
I167N |
probably benign |
Het |
| Atp13a3 |
G |
T |
16: 30,168,506 (GRCm39) |
D494E |
probably damaging |
Het |
| Cep83 |
A |
C |
10: 94,554,939 (GRCm39) |
H35P |
possibly damaging |
Het |
| Cpne3 |
A |
G |
4: 19,555,477 (GRCm39) |
V6A |
probably benign |
Het |
| Dnm3 |
G |
A |
1: 161,838,584 (GRCm39) |
A259V |
possibly damaging |
Het |
| Eftud2 |
T |
C |
11: 102,737,056 (GRCm39) |
I575V |
probably benign |
Het |
| Eif4g1 |
A |
G |
16: 20,500,255 (GRCm39) |
N676S |
possibly damaging |
Het |
| Foxp1 |
TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
6: 99,052,926 (GRCm39) |
|
probably benign |
Het |
| Gal3st4 |
T |
A |
5: 138,264,011 (GRCm39) |
K329N |
probably benign |
Het |
| Gm15446 |
T |
C |
5: 110,088,314 (GRCm39) |
V9A |
probably damaging |
Het |
| Golim4 |
A |
T |
3: 75,815,435 (GRCm39) |
|
probably null |
Het |
| Harbi1 |
T |
C |
2: 91,542,689 (GRCm39) |
V50A |
probably damaging |
Het |
| Hcn2 |
T |
C |
10: 79,564,787 (GRCm39) |
C400R |
probably damaging |
Het |
| Heatr6 |
T |
C |
11: 83,668,188 (GRCm39) |
M894T |
probably damaging |
Het |
| Hid1 |
A |
T |
11: 115,243,466 (GRCm39) |
H527Q |
|
Het |
| Ifitm1 |
C |
T |
7: 140,548,227 (GRCm39) |
A20V |
probably benign |
Het |
| Klk1b11 |
T |
A |
7: 43,427,850 (GRCm39) |
L213Q |
|
Het |
| Lepr |
A |
G |
4: 101,590,473 (GRCm39) |
Y17C |
probably benign |
Het |
| N4bp3 |
A |
T |
11: 51,536,493 (GRCm39) |
V113E |
probably damaging |
Het |
| Neb |
C |
T |
2: 52,182,680 (GRCm39) |
R1062K |
probably benign |
Het |
| Nlrp4b |
T |
A |
7: 10,444,295 (GRCm39) |
N81K |
probably benign |
Het |
| Nol6 |
A |
G |
4: 41,120,298 (GRCm39) |
I473T |
probably benign |
Het |
| Nsd1 |
T |
A |
13: 55,381,807 (GRCm39) |
S344T |
probably benign |
Het |
| Pals2 |
C |
A |
6: 50,173,597 (GRCm39) |
A487E |
probably benign |
Het |
| Pde12 |
A |
G |
14: 26,390,008 (GRCm39) |
Y234H |
possibly damaging |
Het |
| Pla2g4e |
C |
T |
2: 120,015,680 (GRCm39) |
C288Y |
probably benign |
Het |
| Plekhd1 |
A |
G |
12: 80,739,731 (GRCm39) |
T27A |
probably damaging |
Het |
| Pls1 |
T |
A |
9: 95,644,057 (GRCm39) |
I480F |
probably damaging |
Het |
| Prom1 |
A |
G |
5: 44,187,075 (GRCm39) |
I394T |
probably damaging |
Het |
| Ros1 |
A |
T |
10: 51,994,249 (GRCm39) |
C1365S |
probably damaging |
Het |
| Rpgrip1l |
G |
A |
8: 92,031,433 (GRCm39) |
T148M |
possibly damaging |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Tap1 |
A |
C |
17: 34,412,172 (GRCm39) |
D459A |
probably damaging |
Het |
| Tas2r125 |
T |
C |
6: 132,887,023 (GRCm39) |
I137T |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,159,827 (GRCm39) |
|
probably null |
Het |
| Vmn1r172 |
T |
C |
7: 23,359,193 (GRCm39) |
I26T |
possibly damaging |
Het |
|
| Other mutations in Tent5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00857:Tent5a
|
APN |
9 |
85,206,806 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01135:Tent5a
|
APN |
9 |
85,208,652 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01724:Tent5a
|
APN |
9 |
85,207,103 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02798:Tent5a
|
APN |
9 |
85,206,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0482:Tent5a
|
UTSW |
9 |
85,207,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2697:Tent5a
|
UTSW |
9 |
85,206,793 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4458:Tent5a
|
UTSW |
9 |
85,208,527 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4494:Tent5a
|
UTSW |
9 |
85,207,100 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5245:Tent5a
|
UTSW |
9 |
85,208,401 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6539:Tent5a
|
UTSW |
9 |
85,208,614 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6622:Tent5a
|
UTSW |
9 |
85,208,509 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7253:Tent5a
|
UTSW |
9 |
85,208,770 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7317:Tent5a
|
UTSW |
9 |
85,206,670 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8554:Tent5a
|
UTSW |
9 |
85,208,784 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8770:Tent5a
|
UTSW |
9 |
85,208,803 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9231:Tent5a
|
UTSW |
9 |
85,208,388 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9357:Tent5a
|
UTSW |
9 |
85,208,672 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9708:Tent5a
|
UTSW |
9 |
85,207,267 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTTACTTGAAATGGCTTCCC -3'
(R):5'- TGACTTCTCAGACATCGGAGAG -3'
Sequencing Primer
(F):5'- GTTGCAGGGTAACCAAGT -3'
(R):5'- CTCAGACATCGGAGAGCAGCAG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation