Incidental Mutation 'IGL02798:Tent5a'
| ID |
360048 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tent5a
|
| Ensembl Gene |
ENSMUSG00000032265 |
| Gene Name |
terminal nucleotidyltransferase 5A |
| Synonyms |
Fam46a, BAP014, D930050G01Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.341)
|
| Stock # |
IGL02798
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
85202492-85209203 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 85206937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 287
(V287E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034802]
[ENSMUST00000187711]
|
| AlphaFold |
D3Z5S8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034802
AA Change: V306E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000034802
Gene: ENSMUSG00000032265
AA Change: V306E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
55 |
N/A |
INTRINSIC |
|
DUF1693
|
71 |
389 |
8.01e-244 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187711
AA Change: V287E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000140869
Gene: ENSMUSG00000032265
AA Change: V287E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
36 |
N/A |
INTRINSIC |
|
DUF1693
|
52 |
370 |
3.9e-248 |
SMART |
|
| Coding Region Coverage |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
A |
T |
14: 66,277,724 (GRCm39) |
C514S |
probably damaging |
Het |
| Alcam |
A |
G |
16: 52,126,002 (GRCm39) |
I105T |
probably damaging |
Het |
| Arhgef10l |
A |
T |
4: 140,292,441 (GRCm39) |
|
probably null |
Het |
| Arhgef17 |
A |
G |
7: 100,578,833 (GRCm39) |
V705A |
probably benign |
Het |
| C87436 |
T |
A |
6: 86,423,184 (GRCm39) |
C253S |
probably benign |
Het |
| Cbx7 |
T |
C |
15: 79,802,600 (GRCm39) |
T226A |
probably damaging |
Het |
| Cdh20 |
T |
C |
1: 104,875,190 (GRCm39) |
I324T |
probably damaging |
Het |
| Celsr3 |
A |
T |
9: 108,720,774 (GRCm39) |
H2608L |
probably damaging |
Het |
| Cramp1 |
A |
G |
17: 25,187,894 (GRCm39) |
|
probably benign |
Het |
| Ddx25 |
A |
G |
9: 35,462,693 (GRCm39) |
C231R |
probably damaging |
Het |
| Emilin2 |
A |
G |
17: 71,563,690 (GRCm39) |
|
probably benign |
Het |
| Hip1r |
T |
C |
5: 124,132,775 (GRCm39) |
|
probably benign |
Het |
| Insrr |
C |
T |
3: 87,717,824 (GRCm39) |
P842S |
probably damaging |
Het |
| Lama1 |
G |
T |
17: 68,102,186 (GRCm39) |
|
probably benign |
Het |
| Lig3 |
T |
C |
11: 82,686,531 (GRCm39) |
|
probably benign |
Het |
| Lrp4 |
C |
A |
2: 91,307,055 (GRCm39) |
T392K |
probably benign |
Het |
| Msl2 |
G |
T |
9: 100,957,430 (GRCm39) |
R33S |
probably benign |
Het |
| Nrde2 |
T |
A |
12: 100,110,081 (GRCm39) |
K317* |
probably null |
Het |
| Nub1 |
C |
A |
5: 24,897,812 (GRCm39) |
A42D |
probably damaging |
Het |
| Obox2 |
T |
C |
7: 15,130,807 (GRCm39) |
V13A |
possibly damaging |
Het |
| Or13p3 |
T |
C |
4: 118,566,696 (GRCm39) |
F31L |
probably damaging |
Het |
| Or4k5 |
T |
A |
14: 50,385,835 (GRCm39) |
K165N |
probably benign |
Het |
| Or5ac20 |
A |
T |
16: 59,104,478 (GRCm39) |
C127* |
probably null |
Het |
| Phkb |
T |
C |
8: 86,770,406 (GRCm39) |
Y892H |
probably benign |
Het |
| Ptdss1 |
A |
G |
13: 67,124,824 (GRCm39) |
Y341C |
probably damaging |
Het |
| Ripor2 |
A |
T |
13: 24,858,649 (GRCm39) |
D147V |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,544,219 (GRCm39) |
D424G |
probably benign |
Het |
| Scn9a |
C |
T |
2: 66,370,903 (GRCm39) |
R559Q |
possibly damaging |
Het |
| Sctr |
G |
A |
1: 119,949,910 (GRCm39) |
C33Y |
probably damaging |
Het |
| Sh2b2 |
G |
T |
5: 136,250,817 (GRCm39) |
A419E |
probably damaging |
Het |
| Slc22a30 |
A |
T |
19: 8,347,449 (GRCm39) |
M317K |
probably damaging |
Het |
| Slc39a4 |
T |
C |
15: 76,499,382 (GRCm39) |
S178G |
probably benign |
Het |
| Slc7a12 |
T |
A |
3: 14,546,217 (GRCm39) |
C121S |
probably damaging |
Het |
| Slmap |
T |
C |
14: 26,191,533 (GRCm39) |
S148G |
possibly damaging |
Het |
| Tktl2 |
A |
G |
8: 66,965,963 (GRCm39) |
K507R |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,586,207 (GRCm39) |
K21841N |
probably damaging |
Het |
| Ugcg |
T |
C |
4: 59,220,346 (GRCm39) |
Y380H |
probably damaging |
Het |
| Zfp106 |
T |
C |
2: 120,340,991 (GRCm39) |
T1840A |
probably damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,694,070 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R9604:Tent5a
|
UTSW |
9 |
85,206,677 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9708:Tent5a
|
UTSW |
9 |
85,207,267 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Posted On |
2015-12-18 |
Incidental Mutation