Incidental Mutation 'R5041:Tent4b'
ID |
393216 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tent4b
|
Ensembl Gene |
ENSMUSG00000036779 |
Gene Name |
terminal nucleotidyltransferase 4B |
Synonyms |
5730445M16Rik, Papd5 |
MMRRC Submission |
042631-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.904)
|
Stock # |
R5041 (G1)
|
Quality Score |
217 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
88925841-88986350 bp(+) (GRCm39) |
Type of Mutation |
small deletion (3 aa in frame mutation) |
DNA Base Change (assembly) |
CCCAACAACGCCAACAA to CCCAACAA
at 88981878 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120503
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066748]
[ENSMUST00000118952]
[ENSMUST00000119033]
[ENSMUST00000154115]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066748
|
SMART Domains |
Protein: ENSMUSP00000067971 Gene: ENSMUSG00000036779
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
47 |
N/A |
INTRINSIC |
low complexity region
|
83 |
117 |
N/A |
INTRINSIC |
low complexity region
|
148 |
162 |
N/A |
INTRINSIC |
Pfam:NTP_transf_2
|
206 |
315 |
1.6e-16 |
PFAM |
Pfam:PAP_assoc
|
326 |
386 |
2.4e-18 |
PFAM |
low complexity region
|
496 |
526 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118952
|
SMART Domains |
Protein: ENSMUSP00000112608 Gene: ENSMUSG00000036779
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
47 |
N/A |
INTRINSIC |
low complexity region
|
83 |
117 |
N/A |
INTRINSIC |
low complexity region
|
148 |
162 |
N/A |
INTRINSIC |
Pfam:NTP_transf_2
|
206 |
317 |
1.1e-16 |
PFAM |
Pfam:PAP_assoc
|
369 |
429 |
1.1e-17 |
PFAM |
low complexity region
|
539 |
569 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119033
|
SMART Domains |
Protein: ENSMUSP00000112766 Gene: ENSMUSG00000036779
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
47 |
N/A |
INTRINSIC |
low complexity region
|
83 |
117 |
N/A |
INTRINSIC |
low complexity region
|
148 |
162 |
N/A |
INTRINSIC |
Pfam:NTP_transf_2
|
206 |
318 |
4.6e-18 |
PFAM |
Pfam:PAP_assoc
|
369 |
429 |
4.8e-17 |
PFAM |
low complexity region
|
539 |
569 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154115
|
SMART Domains |
Protein: ENSMUSP00000120503 Gene: ENSMUSG00000036779
Domain | Start | End | E-Value | Type |
low complexity region
|
74 |
92 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
Validation Efficiency |
98% (42/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg7 |
A |
G |
16: 56,550,711 (GRCm39) |
F667S |
probably benign |
Het |
Akna |
A |
G |
4: 63,305,381 (GRCm39) |
Y462H |
possibly damaging |
Het |
Anxa11 |
G |
T |
14: 25,875,188 (GRCm39) |
E278* |
probably null |
Het |
Ap3s2 |
T |
C |
7: 79,570,267 (GRCm39) |
Y20C |
probably benign |
Het |
Atxn7 |
T |
C |
14: 14,096,317 (GRCm38) |
|
probably null |
Het |
AW551984 |
T |
C |
9: 39,511,894 (GRCm39) |
Y39C |
probably damaging |
Het |
Becn1 |
A |
T |
11: 101,179,662 (GRCm39) |
S442T |
probably benign |
Het |
Bhlhe40 |
C |
T |
6: 108,639,546 (GRCm39) |
T108I |
probably damaging |
Het |
Cnst |
A |
G |
1: 179,432,593 (GRCm39) |
D252G |
probably damaging |
Het |
Cpxm1 |
A |
G |
2: 130,235,990 (GRCm39) |
S391P |
probably damaging |
Het |
Ctnna2 |
T |
A |
6: 76,892,746 (GRCm39) |
N814Y |
probably damaging |
Het |
Ddx3y |
T |
A |
Y: 1,266,611 (GRCm39) |
Y282F |
probably benign |
Het |
Ddx56 |
A |
G |
11: 6,214,178 (GRCm39) |
V357A |
probably damaging |
Het |
Frmpd1 |
T |
G |
4: 45,278,878 (GRCm39) |
C534W |
probably damaging |
Het |
Gimap8 |
A |
G |
6: 48,636,097 (GRCm39) |
N621D |
probably damaging |
Het |
Herc1 |
T |
A |
9: 66,336,327 (GRCm39) |
I1624N |
possibly damaging |
Het |
Htr7 |
A |
C |
19: 36,034,467 (GRCm39) |
W63G |
probably benign |
Het |
Ly6g6c |
T |
A |
17: 35,284,428 (GRCm39) |
|
probably null |
Het |
Macf1 |
T |
C |
4: 123,290,839 (GRCm39) |
|
probably null |
Het |
Mfrp |
A |
G |
9: 44,013,575 (GRCm39) |
D62G |
probably damaging |
Het |
Ncam1 |
T |
C |
9: 49,478,085 (GRCm39) |
Y173C |
probably damaging |
Het |
Nwd1 |
T |
C |
8: 73,431,683 (GRCm39) |
V1185A |
possibly damaging |
Het |
Or4c113 |
A |
T |
2: 88,885,265 (GRCm39) |
C168* |
probably null |
Het |
Or51h7 |
T |
C |
7: 102,591,785 (GRCm39) |
|
probably null |
Het |
Pcf11 |
G |
A |
7: 92,307,613 (GRCm39) |
P852S |
probably benign |
Het |
Pramel25 |
T |
C |
4: 143,520,260 (GRCm39) |
V4A |
probably benign |
Het |
Ralgapa2 |
T |
C |
2: 146,327,071 (GRCm39) |
I63V |
probably benign |
Het |
Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,132 (GRCm39) |
|
probably benign |
Het |
Rubcnl |
T |
C |
14: 75,287,572 (GRCm39) |
F619L |
probably damaging |
Het |
Sec24d |
A |
T |
3: 123,087,880 (GRCm39) |
Q247L |
probably damaging |
Het |
Spmap2l |
A |
G |
5: 77,203,928 (GRCm39) |
T319A |
probably benign |
Het |
Spns3 |
G |
T |
11: 72,427,373 (GRCm39) |
Q306K |
possibly damaging |
Het |
Sstr1 |
T |
C |
12: 58,259,941 (GRCm39) |
V188A |
possibly damaging |
Het |
Supt5 |
A |
T |
7: 28,014,805 (GRCm39) |
L1024Q |
probably damaging |
Het |
Unc13b |
T |
A |
4: 43,237,836 (GRCm39) |
H3452Q |
probably benign |
Het |
Usp28 |
A |
G |
9: 48,949,073 (GRCm39) |
Q864R |
probably benign |
Het |
Vmn2r43 |
T |
C |
7: 8,247,806 (GRCm39) |
T786A |
probably damaging |
Het |
Yy1 |
TCACCACCACCACCACCACCACCACCACC |
TCACCACCACCACCACCACCACCACCACCACC |
12: 108,759,557 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Tent4b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00502:Tent4b
|
APN |
8 |
88,978,886 (GRCm39) |
nonsense |
probably null |
|
R0079:Tent4b
|
UTSW |
8 |
88,926,631 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0158:Tent4b
|
UTSW |
8 |
88,977,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R1175:Tent4b
|
UTSW |
8 |
88,978,635 (GRCm39) |
missense |
probably damaging |
1.00 |
R1351:Tent4b
|
UTSW |
8 |
88,927,002 (GRCm39) |
nonsense |
probably null |
|
R1381:Tent4b
|
UTSW |
8 |
88,969,937 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1541:Tent4b
|
UTSW |
8 |
88,972,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R1801:Tent4b
|
UTSW |
8 |
88,977,416 (GRCm39) |
missense |
probably benign |
0.25 |
R1994:Tent4b
|
UTSW |
8 |
88,973,112 (GRCm39) |
missense |
probably damaging |
1.00 |
R2013:Tent4b
|
UTSW |
8 |
88,972,223 (GRCm39) |
splice site |
probably null |
|
R2290:Tent4b
|
UTSW |
8 |
88,978,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R3791:Tent4b
|
UTSW |
8 |
88,969,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R3845:Tent4b
|
UTSW |
8 |
88,977,292 (GRCm39) |
missense |
possibly damaging |
0.60 |
R3886:Tent4b
|
UTSW |
8 |
88,927,043 (GRCm39) |
missense |
probably benign |
0.03 |
R5253:Tent4b
|
UTSW |
8 |
88,926,651 (GRCm39) |
missense |
possibly damaging |
0.63 |
R6881:Tent4b
|
UTSW |
8 |
88,977,416 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7792:Tent4b
|
UTSW |
8 |
88,979,182 (GRCm39) |
missense |
probably benign |
|
R7936:Tent4b
|
UTSW |
8 |
88,978,913 (GRCm39) |
missense |
probably null |
0.05 |
R8054:Tent4b
|
UTSW |
8 |
88,974,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R8997:Tent4b
|
UTSW |
8 |
88,979,023 (GRCm39) |
missense |
probably benign |
0.12 |
R8998:Tent4b
|
UTSW |
8 |
88,977,350 (GRCm39) |
missense |
probably benign |
0.09 |
X0024:Tent4b
|
UTSW |
8 |
88,973,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CGAAATTGTTGCCCCTCTGAG -3'
(R):5'- GGGTTTGATGGAGCTTATAAACATG -3'
Sequencing Primer
(F):5'- GCCCCTCTGAGTTCTGAATATG -3'
(R):5'- GCCGTGGACATTTTTATCAACTCTAG -3'
|
Posted On |
2016-06-15 |