Incidental Mutation 'R8953:Terb1'
| ID |
681766 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Terb1
|
| Ensembl Gene |
ENSMUSG00000052616 |
| Gene Name |
telomere repeat binding bouquet formation protein 1 |
| Synonyms |
Ccdc79, 4930532D21Rik |
| MMRRC Submission |
068789-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8953 (G1)
|
| Quality Score |
216.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
105173351-105236542 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 105195431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 570
(D570V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067324
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064576]
[ENSMUST00000159713]
[ENSMUST00000161520]
|
| AlphaFold |
Q8C0V1 |
| PDB Structure |
Solution structures of the myb-like DNA binding domain of 4930532D21Rik protein [SOLUTION NMR]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064576
AA Change: D570V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067324
Gene: ENSMUSG00000052616
AA Change: D570V
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ee4a_
|
2 |
368 |
7e-11 |
SMART |
|
low complexity region
|
416 |
428 |
N/A |
INTRINSIC |
|
low complexity region
|
536 |
545 |
N/A |
INTRINSIC |
|
SANT
|
711 |
762 |
7.07e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159713
|
| SMART Domains |
Protein: ENSMUSP00000124706
Gene: ENSMUSG00000052616
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1qgra_
|
10 |
335 |
6e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161520
|
| SMART Domains |
Protein: ENSMUSP00000125431
Gene: ENSMUSG00000052616
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1qgra_
|
10 |
336 |
2e-7 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (64/64) |
| MGI Phenotype |
PHENOTYPE: Male and female mice homozygous for a null allele are infertile with arrest of meiosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
T |
C |
6: 91,892,002 (GRCm39) |
V88A |
probably benign |
Het |
| Abca17 |
C |
A |
17: 24,518,015 (GRCm39) |
V765L |
probably benign |
Het |
| Atp2b2 |
T |
A |
6: 113,737,630 (GRCm39) |
T915S |
possibly damaging |
Het |
| Cacna1s |
C |
T |
1: 136,025,170 (GRCm39) |
H992Y |
possibly damaging |
Het |
| Castor1 |
A |
T |
11: 4,171,249 (GRCm39) |
I244F |
probably benign |
Het |
| Clpp |
T |
A |
17: 57,298,373 (GRCm39) |
M113K |
probably damaging |
Het |
| Cmklr2 |
A |
G |
1: 63,222,272 (GRCm39) |
L321P |
probably damaging |
Het |
| Csn3 |
A |
G |
5: 88,077,809 (GRCm39) |
Q105R |
possibly damaging |
Het |
| Dcaf1 |
G |
A |
9: 106,735,542 (GRCm39) |
R830Q |
possibly damaging |
Het |
| Dnah17 |
A |
T |
11: 118,016,238 (GRCm39) |
|
probably benign |
Het |
| Etv4 |
A |
G |
11: 101,662,513 (GRCm39) |
|
probably null |
Het |
| Fos |
A |
G |
12: 85,522,826 (GRCm39) |
D246G |
probably benign |
Het |
| Foxo1 |
T |
C |
3: 52,253,675 (GRCm39) |
S613P |
probably damaging |
Het |
| Gabra2 |
A |
T |
5: 71,163,525 (GRCm39) |
C261S |
probably damaging |
Het |
| Garem1 |
A |
T |
18: 21,264,388 (GRCm39) |
|
probably null |
Het |
| Gmip |
T |
G |
8: 70,269,427 (GRCm39) |
L533R |
probably damaging |
Het |
| Havcr1 |
A |
G |
11: 46,647,006 (GRCm39) |
T147A |
possibly damaging |
Het |
| Helz2 |
C |
T |
2: 180,874,884 (GRCm39) |
R1870Q |
probably damaging |
Het |
| Itprid2 |
T |
C |
2: 79,490,839 (GRCm39) |
Y986H |
probably damaging |
Het |
| Kcnk3 |
A |
C |
5: 30,779,382 (GRCm39) |
K144T |
probably damaging |
Het |
| Lama5 |
A |
G |
2: 179,835,313 (GRCm39) |
V1293A |
probably damaging |
Het |
| Man2b1 |
A |
G |
8: 85,818,539 (GRCm39) |
I498V |
probably benign |
Het |
| Map6 |
T |
C |
7: 98,965,078 (GRCm39) |
L289P |
probably damaging |
Het |
| Mapk7 |
G |
T |
11: 61,383,792 (GRCm39) |
D43E |
possibly damaging |
Het |
| Medag |
A |
G |
5: 149,350,765 (GRCm39) |
Y194C |
probably damaging |
Het |
| Mertk |
A |
G |
2: 128,620,716 (GRCm39) |
|
probably benign |
Het |
| Mier3 |
C |
A |
13: 111,842,587 (GRCm39) |
T136K |
probably benign |
Het |
| Ndc1 |
T |
A |
4: 107,238,890 (GRCm39) |
W242R |
probably damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,052,632 (GRCm39) |
V932A |
probably damaging |
Het |
| Or2m12 |
T |
A |
16: 19,105,269 (GRCm39) |
M75L |
probably benign |
Het |
| Or5p55 |
G |
A |
7: 107,567,251 (GRCm39) |
V216I |
probably benign |
Het |
| Or5w15 |
A |
T |
2: 87,568,371 (GRCm39) |
M99K |
probably benign |
Het |
| Or9a4 |
G |
T |
6: 40,548,676 (GRCm39) |
A119S |
possibly damaging |
Het |
| Otub2 |
A |
T |
12: 103,370,585 (GRCm39) |
D289V |
probably damaging |
Het |
| P2rx3 |
A |
G |
2: 84,853,842 (GRCm39) |
V133A |
possibly damaging |
Het |
| Pde4a |
C |
A |
9: 21,122,030 (GRCm39) |
T585K |
probably damaging |
Het |
| Pik3c2a |
A |
T |
7: 115,987,320 (GRCm39) |
Y534N |
probably benign |
Het |
| Pip5kl1 |
A |
G |
2: 32,469,991 (GRCm39) |
D232G |
possibly damaging |
Het |
| Pklr |
C |
T |
3: 89,049,612 (GRCm39) |
S234L |
probably damaging |
Het |
| Pkn1 |
T |
C |
8: 84,410,815 (GRCm39) |
K271E |
probably damaging |
Het |
| Plch1 |
T |
G |
3: 63,639,126 (GRCm39) |
H449P |
possibly damaging |
Het |
| Pparg |
T |
C |
6: 115,418,507 (GRCm39) |
L92P |
possibly damaging |
Het |
| Pramel51 |
A |
G |
12: 88,144,070 (GRCm39) |
C248R |
probably benign |
Het |
| Ptgdr2 |
C |
T |
19: 10,917,786 (GRCm39) |
T101I |
probably benign |
Het |
| Rad54l2 |
A |
T |
9: 106,570,461 (GRCm39) |
H1286Q |
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,867,546 (GRCm39) |
S3P |
probably damaging |
Het |
| Rictor |
G |
A |
15: 6,823,928 (GRCm39) |
V1598I |
probably benign |
Het |
| Rph3al |
G |
T |
11: 75,797,401 (GRCm39) |
C98* |
probably null |
Het |
| Rpn2 |
A |
G |
2: 157,163,746 (GRCm39) |
T613A |
probably damaging |
Het |
| Rps20 |
T |
A |
4: 3,834,617 (GRCm39) |
M82L |
probably benign |
Het |
| Rusf1 |
T |
G |
7: 127,872,678 (GRCm39) |
Q423H |
probably benign |
Het |
| Sh3bp4 |
A |
G |
1: 89,072,159 (GRCm39) |
I336V |
probably damaging |
Het |
| Slc6a20b |
T |
C |
9: 123,438,254 (GRCm39) |
N174S |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,058,241 (GRCm39) |
N1903S |
probably benign |
Het |
| Tacc2 |
T |
C |
7: 130,227,487 (GRCm39) |
S1391P |
probably benign |
Het |
| Trhde |
T |
A |
10: 114,338,966 (GRCm39) |
I615F |
probably damaging |
Het |
| Ttc13 |
T |
C |
8: 125,402,088 (GRCm39) |
N556S |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,568,228 (GRCm39) |
D19228V |
probably damaging |
Het |
| Unc13c |
T |
A |
9: 73,840,044 (GRCm39) |
Y269F |
probably benign |
Het |
| Usp33 |
T |
A |
3: 152,080,420 (GRCm39) |
V517E |
possibly damaging |
Het |
| Wee1 |
A |
G |
7: 109,723,691 (GRCm39) |
D202G |
probably benign |
Het |
| Zfp318 |
T |
A |
17: 46,731,356 (GRCm39) |
S1120T |
probably benign |
Het |
| Zfr2 |
C |
A |
10: 81,084,271 (GRCm39) |
N650K |
probably damaging |
Het |
| Znfx1 |
G |
A |
2: 166,897,421 (GRCm39) |
T501I |
probably damaging |
Het |
|
| Other mutations in Terb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00787:Terb1
|
APN |
8 |
105,178,439 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01468:Terb1
|
APN |
8 |
105,208,799 (GRCm39) |
intron |
probably benign |
|
|
IGL01619:Terb1
|
APN |
8 |
105,199,646 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01631:Terb1
|
APN |
8 |
105,199,496 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02041:Terb1
|
APN |
8 |
105,221,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02413:Terb1
|
APN |
8 |
105,221,500 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02974:Terb1
|
APN |
8 |
105,221,600 (GRCm39) |
nonsense |
probably null |
|
|
IGL03091:Terb1
|
APN |
8 |
105,195,786 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03410:Terb1
|
APN |
8 |
105,199,674 (GRCm39) |
splice site |
probably benign |
|
|
R0825:Terb1
|
UTSW |
8 |
105,195,380 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0906:Terb1
|
UTSW |
8 |
105,179,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1175:Terb1
|
UTSW |
8 |
105,210,938 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1494:Terb1
|
UTSW |
8 |
105,225,122 (GRCm39) |
splice site |
probably benign |
|
|
R1657:Terb1
|
UTSW |
8 |
105,215,123 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2018:Terb1
|
UTSW |
8 |
105,179,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2029:Terb1
|
UTSW |
8 |
105,224,732 (GRCm39) |
splice site |
probably benign |
|
|
R2047:Terb1
|
UTSW |
8 |
105,212,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2062:Terb1
|
UTSW |
8 |
105,195,380 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2179:Terb1
|
UTSW |
8 |
105,199,369 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2179:Terb1
|
UTSW |
8 |
105,179,347 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2187:Terb1
|
UTSW |
8 |
105,199,516 (GRCm39) |
missense |
probably benign |
|
|
R2420:Terb1
|
UTSW |
8 |
105,225,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2867:Terb1
|
UTSW |
8 |
105,174,485 (GRCm39) |
unclassified |
probably benign |
|
|
R3749:Terb1
|
UTSW |
8 |
105,223,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4850:Terb1
|
UTSW |
8 |
105,212,057 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4930:Terb1
|
UTSW |
8 |
105,174,580 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4963:Terb1
|
UTSW |
8 |
105,208,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4969:Terb1
|
UTSW |
8 |
105,221,795 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5100:Terb1
|
UTSW |
8 |
105,221,805 (GRCm39) |
nonsense |
probably null |
|
|
R5440:Terb1
|
UTSW |
8 |
105,215,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5824:Terb1
|
UTSW |
8 |
105,212,079 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5950:Terb1
|
UTSW |
8 |
105,215,117 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5985:Terb1
|
UTSW |
8 |
105,208,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5985:Terb1
|
UTSW |
8 |
105,178,439 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6320:Terb1
|
UTSW |
8 |
105,173,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6432:Terb1
|
UTSW |
8 |
105,212,078 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6473:Terb1
|
UTSW |
8 |
105,199,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6701:Terb1
|
UTSW |
8 |
105,199,388 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7013:Terb1
|
UTSW |
8 |
105,215,222 (GRCm39) |
nonsense |
probably null |
|
|
R7064:Terb1
|
UTSW |
8 |
105,215,186 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7237:Terb1
|
UTSW |
8 |
105,221,959 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7361:Terb1
|
UTSW |
8 |
105,195,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7549:Terb1
|
UTSW |
8 |
105,224,716 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7915:Terb1
|
UTSW |
8 |
105,173,848 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8112:Terb1
|
UTSW |
8 |
105,195,399 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8256:Terb1
|
UTSW |
8 |
105,199,579 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8329:Terb1
|
UTSW |
8 |
105,211,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8807:Terb1
|
UTSW |
8 |
105,195,741 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8984:Terb1
|
UTSW |
8 |
105,212,036 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9614:Terb1
|
UTSW |
8 |
105,223,476 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATGGCCTAATGTAAATAGAGAAC -3'
(R):5'- CCCTGTGTAACTCTGACACACC -3'
Sequencing Primer
(F):5'- AGCACTGGACTGCTCTTCTGAAG -3'
(R):5'- GTACCACTTACTCATATGCAGAATC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation