Incidental Mutation 'R8040:Tent4a'
| ID |
618483 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tent4a
|
| Ensembl Gene |
ENSMUSG00000034575 |
| Gene Name |
terminal nucleotidyltransferase 4A |
| Synonyms |
TRF4, Pols, TRF4-1, Papd7, LAK-1 |
| MMRRC Submission |
067477-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.252)
|
| Stock # |
R8040 (G1)
|
| Quality Score |
190.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
69646071-69682710 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69648600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 719
(Y719H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142516
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044081]
[ENSMUST00000198607]
[ENSMUST00000223344]
|
| AlphaFold |
Q6PB75 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044081
AA Change: Y476H
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000040757
Gene: ENSMUSG00000034575
AA Change: Y476H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTP_transf_2
|
15 |
124 |
4.1e-20 |
PFAM |
|
Pfam:PAP_assoc
|
178 |
238 |
5.4e-19 |
PFAM |
|
low complexity region
|
343 |
368 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
505 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198607
AA Change: Y719H
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142516
Gene: ENSMUSG00000034575
AA Change: Y719H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
118 |
N/A |
INTRINSIC |
|
low complexity region
|
122 |
145 |
N/A |
INTRINSIC |
|
low complexity region
|
206 |
220 |
N/A |
INTRINSIC |
|
Pfam:NTP_transf_2
|
258 |
368 |
1.6e-14 |
PFAM |
|
Pfam:PAP_assoc
|
421 |
481 |
8.3e-16 |
PFAM |
|
low complexity region
|
586 |
611 |
N/A |
INTRINSIC |
|
low complexity region
|
739 |
748 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223344
AA Change: Y476H
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (47/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a DNA polymerase that is likely involved in DNA repair. In addition, the encoded protein may be required for sister chromatid adhesion. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jan 2010]
|
| Allele List at MGI |
All alleles(5) : Targeted(4) Gene trapped(1)
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
T |
5: 8,765,035 (GRCm39) |
D675V |
probably benign |
Het |
| Adam21 |
T |
C |
12: 81,607,211 (GRCm39) |
R184G |
probably benign |
Het |
| Adcy10 |
A |
G |
1: 165,379,593 (GRCm39) |
K952E |
probably damaging |
Het |
| Allc |
A |
T |
12: 28,605,351 (GRCm39) |
I316N |
probably damaging |
Het |
| Ano8 |
T |
C |
8: 71,934,812 (GRCm39) |
T432A |
probably benign |
Het |
| Cadps2 |
C |
A |
6: 23,412,942 (GRCm39) |
|
probably benign |
Het |
| Camsap2 |
T |
C |
1: 136,208,985 (GRCm39) |
S168G |
|
Het |
| Ccl19 |
T |
C |
4: 42,756,297 (GRCm39) |
S12G |
probably damaging |
Het |
| Cfap91 |
A |
G |
16: 38,140,733 (GRCm39) |
S407P |
possibly damaging |
Het |
| Cltc |
A |
G |
11: 86,616,031 (GRCm39) |
S412P |
probably damaging |
Het |
| Cwc25 |
A |
G |
11: 97,641,696 (GRCm39) |
|
probably null |
Het |
| Cxcr4 |
A |
G |
1: 128,517,535 (GRCm39) |
F42S |
probably damaging |
Het |
| Cyp4a12a |
A |
G |
4: 115,183,412 (GRCm39) |
Q177R |
probably benign |
Het |
| Dnal4 |
T |
C |
15: 79,646,169 (GRCm39) |
T112A |
probably benign |
Het |
| Dock9 |
C |
A |
14: 121,889,206 (GRCm39) |
G304C |
probably benign |
Het |
| Evpl |
T |
C |
11: 116,113,758 (GRCm39) |
T1311A |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,035,815 (GRCm39) |
Y3156H |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,733,841 (GRCm39) |
I1070M |
possibly damaging |
Het |
| Hcls1 |
A |
G |
16: 36,771,511 (GRCm39) |
D139G |
probably damaging |
Het |
| Ighv1-7 |
A |
G |
12: 114,502,390 (GRCm39) |
S26P |
probably benign |
Het |
| Il1r1 |
A |
T |
1: 40,352,509 (GRCm39) |
T563S |
probably benign |
Het |
| Kcna1 |
C |
T |
6: 126,619,703 (GRCm39) |
D206N |
probably benign |
Het |
| Kcnk4 |
A |
G |
19: 6,904,995 (GRCm39) |
Y219H |
probably damaging |
Het |
| Kcnt2 |
G |
A |
1: 140,377,955 (GRCm39) |
A403T |
probably damaging |
Het |
| Mdp1 |
T |
A |
14: 55,897,523 (GRCm39) |
N44I |
probably benign |
Het |
| Nceh1 |
A |
G |
3: 27,295,374 (GRCm39) |
N212D |
probably benign |
Het |
| Nynrin |
G |
A |
14: 56,108,982 (GRCm39) |
G1363D |
probably benign |
Het |
| Or5d20-ps1 |
T |
A |
2: 87,931,703 (GRCm39) |
R209S |
unknown |
Het |
| Or6n1 |
T |
C |
1: 173,916,723 (GRCm39) |
I39T |
possibly damaging |
Het |
| Or6x1 |
A |
G |
9: 40,098,717 (GRCm39) |
H102R |
probably damaging |
Het |
| Or8d1 |
T |
A |
9: 38,766,460 (GRCm39) |
I34N |
probably damaging |
Het |
| Parp2 |
T |
A |
14: 51,047,630 (GRCm39) |
M47K |
probably benign |
Het |
| Pfdn6 |
T |
C |
17: 34,158,951 (GRCm39) |
|
probably benign |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Plb1 |
T |
A |
5: 32,430,413 (GRCm39) |
H123Q |
possibly damaging |
Het |
| Pml |
C |
A |
9: 58,141,968 (GRCm39) |
R288L |
probably benign |
Het |
| Prodh2 |
A |
G |
7: 30,205,836 (GRCm39) |
D238G |
probably damaging |
Het |
| Rad51ap2 |
T |
A |
12: 11,508,792 (GRCm39) |
S905T |
probably benign |
Het |
| Sclt1 |
C |
T |
3: 41,611,811 (GRCm39) |
R487H |
probably damaging |
Het |
| Serpina3b |
A |
G |
12: 104,097,335 (GRCm39) |
I205M |
probably benign |
Het |
| Sowahb |
A |
G |
5: 93,191,292 (GRCm39) |
S476P |
possibly damaging |
Het |
| Srgap3 |
C |
T |
6: 112,716,325 (GRCm39) |
R625H |
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,935,532 (GRCm39) |
Y2611H |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,250,554 (GRCm39) |
E237G |
possibly damaging |
Het |
| Vmn1r87 |
T |
A |
7: 12,866,086 (GRCm39) |
Y67F |
possibly damaging |
Het |
| Vmn2r107 |
G |
A |
17: 20,595,808 (GRCm39) |
C787Y |
probably damaging |
Het |
| Zscan4-ps3 |
T |
A |
7: 11,346,600 (GRCm39) |
I212N |
probably damaging |
Het |
|
| Other mutations in Tent4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01537:Tent4a
|
APN |
13 |
69,648,678 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02690:Tent4a
|
APN |
13 |
69,658,744 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03047:Tent4a
|
UTSW |
13 |
69,651,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0027:Tent4a
|
UTSW |
13 |
69,655,074 (GRCm39) |
nonsense |
probably null |
|
|
R0309:Tent4a
|
UTSW |
13 |
69,648,051 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1713:Tent4a
|
UTSW |
13 |
69,651,170 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2936:Tent4a
|
UTSW |
13 |
69,650,446 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3809:Tent4a
|
UTSW |
13 |
69,661,115 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4927:Tent4a
|
UTSW |
13 |
69,651,019 (GRCm39) |
splice site |
probably null |
|
|
R6419:Tent4a
|
UTSW |
13 |
69,658,785 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7011:Tent4a
|
UTSW |
13 |
69,648,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7505:Tent4a
|
UTSW |
13 |
69,655,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7547:Tent4a
|
UTSW |
13 |
69,681,823 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7554:Tent4a
|
UTSW |
13 |
69,648,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8124:Tent4a
|
UTSW |
13 |
69,681,716 (GRCm39) |
unclassified |
probably benign |
|
|
R8777:Tent4a
|
UTSW |
13 |
69,658,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8777-TAIL:Tent4a
|
UTSW |
13 |
69,658,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8919:Tent4a
|
UTSW |
13 |
69,651,828 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9175:Tent4a
|
UTSW |
13 |
69,663,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9517:Tent4a
|
UTSW |
13 |
69,655,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9624:Tent4a
|
UTSW |
13 |
69,651,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9688:Tent4a
|
UTSW |
13 |
69,655,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF027:Tent4a
|
UTSW |
13 |
69,681,973 (GRCm39) |
unclassified |
probably benign |
|
|
RF039:Tent4a
|
UTSW |
13 |
69,681,973 (GRCm39) |
unclassified |
probably benign |
|
|
T0722:Tent4a
|
UTSW |
13 |
69,655,074 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Tent4a
|
UTSW |
13 |
69,651,753 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGCTTTTAATCTGCTCTGC -3'
(R):5'- CACTTGTGGGAAGCTCATGTTTC -3'
Sequencing Primer
(F):5'- CATGGGTGTGAGAAGGTCCC -3'
(R):5'- GGGAAGCTCATGTTTCTCTTTTC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation