Incidental Mutation 'R1494:Terb1'
ID |
163819 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Terb1
|
Ensembl Gene |
ENSMUSG00000052616 |
Gene Name |
telomere repeat binding bouquet formation protein 1 |
Synonyms |
Ccdc79, 4930532D21Rik |
MMRRC Submission |
039545-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1494 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
105173351-105236542 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 105225122 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125431
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064576]
[ENSMUST00000159713]
[ENSMUST00000161520]
|
AlphaFold |
Q8C0V1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064576
|
SMART Domains |
Protein: ENSMUSP00000067324 Gene: ENSMUSG00000052616
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162014
|
SMART Domains |
Protein: ENSMUSP00000123925 Gene: ENSMUSG00000052616
Domain | Start | End | E-Value | Type |
SCOP:d1jdha_
|
21 |
370 |
7e-8 |
SMART |
low complexity region
|
382 |
394 |
N/A |
INTRINSIC |
low complexity region
|
502 |
511 |
N/A |
INTRINSIC |
low complexity region
|
688 |
695 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.3%
|
Validation Efficiency |
97% (57/59) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700067P10Rik |
A |
G |
17: 48,400,991 (GRCm39) |
E92G |
probably benign |
Het |
Abca13 |
C |
T |
11: 9,416,429 (GRCm39) |
Q4064* |
probably null |
Het |
Abca14 |
G |
A |
7: 119,815,524 (GRCm39) |
M257I |
probably benign |
Het |
Acsm2 |
T |
A |
7: 119,174,855 (GRCm39) |
C207S |
probably damaging |
Het |
Actr3 |
A |
G |
1: 125,344,018 (GRCm39) |
I67T |
probably benign |
Het |
Adcy7 |
T |
C |
8: 89,046,835 (GRCm39) |
V606A |
probably benign |
Het |
Ahnak2 |
G |
A |
12: 112,751,570 (GRCm39) |
S54F |
probably damaging |
Het |
Ano6 |
T |
C |
15: 95,870,388 (GRCm39) |
S848P |
probably damaging |
Het |
Atg3 |
C |
T |
16: 44,992,123 (GRCm39) |
|
probably benign |
Het |
Atp8b1 |
T |
A |
18: 64,697,597 (GRCm39) |
S416C |
probably damaging |
Het |
C2cd5 |
A |
G |
6: 142,987,072 (GRCm39) |
|
probably benign |
Het |
Capn11 |
A |
T |
17: 45,954,735 (GRCm39) |
V134E |
probably damaging |
Het |
Ccnd3 |
A |
G |
17: 47,909,033 (GRCm39) |
|
probably null |
Het |
Chaf1b |
T |
A |
16: 93,684,998 (GRCm39) |
V149E |
probably damaging |
Het |
Col5a2 |
T |
A |
1: 45,542,074 (GRCm39) |
M1L |
unknown |
Het |
Copa |
T |
C |
1: 171,931,694 (GRCm39) |
I315T |
probably benign |
Het |
Cyp3a57 |
A |
G |
5: 145,318,077 (GRCm39) |
M353V |
probably damaging |
Het |
Dcaf6 |
T |
C |
1: 165,160,942 (GRCm39) |
M828V |
probably damaging |
Het |
Dock2 |
T |
A |
11: 34,232,761 (GRCm39) |
K1080* |
probably null |
Het |
Dock6 |
A |
G |
9: 21,726,038 (GRCm39) |
V1424A |
probably benign |
Het |
Foxa1 |
T |
C |
12: 57,588,984 (GRCm39) |
D412G |
probably damaging |
Het |
Foxp4 |
G |
C |
17: 48,191,278 (GRCm39) |
|
probably benign |
Het |
Galnt9 |
T |
A |
5: 110,736,196 (GRCm39) |
S171T |
probably damaging |
Het |
Glt6d1 |
A |
G |
2: 25,684,260 (GRCm39) |
Y249H |
probably damaging |
Het |
Gm37240 |
A |
T |
3: 84,434,998 (GRCm39) |
Y104N |
probably damaging |
Het |
Gpx8 |
C |
T |
13: 113,182,149 (GRCm39) |
E95K |
possibly damaging |
Het |
Grm1 |
T |
C |
10: 10,565,450 (GRCm39) |
T953A |
probably benign |
Het |
Helz |
T |
C |
11: 107,494,889 (GRCm39) |
|
probably benign |
Het |
Hif3a |
T |
C |
7: 16,788,647 (GRCm39) |
Y108C |
probably damaging |
Het |
Kcnj13 |
A |
T |
1: 87,316,939 (GRCm39) |
L58Q |
probably damaging |
Het |
Mfsd14b |
A |
T |
13: 65,243,485 (GRCm39) |
V53D |
probably damaging |
Het |
Mrps7 |
G |
C |
11: 115,494,952 (GRCm39) |
|
probably benign |
Het |
Mug1 |
G |
A |
6: 121,856,259 (GRCm39) |
G1013D |
probably damaging |
Het |
Or52h7 |
T |
A |
7: 104,214,038 (GRCm39) |
Y203* |
probably null |
Het |
Or6c8 |
A |
T |
10: 128,915,484 (GRCm39) |
M116K |
probably damaging |
Het |
Pax6 |
T |
C |
2: 105,521,955 (GRCm39) |
I19T |
probably benign |
Het |
Pde8b |
G |
A |
13: 95,184,304 (GRCm39) |
R416C |
probably damaging |
Het |
Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
Pygl |
G |
A |
12: 70,246,504 (GRCm39) |
R348W |
probably damaging |
Het |
Ralgapa1 |
T |
A |
12: 55,731,309 (GRCm39) |
D1874V |
probably damaging |
Het |
Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
Sncaip |
T |
C |
18: 53,001,958 (GRCm39) |
S160P |
probably damaging |
Het |
Sptbn4 |
A |
G |
7: 27,133,719 (GRCm39) |
V79A |
probably damaging |
Het |
Sptlc3 |
A |
T |
2: 139,431,480 (GRCm39) |
Y334F |
possibly damaging |
Het |
Supt16 |
A |
G |
14: 52,409,916 (GRCm39) |
Y764H |
probably benign |
Het |
Syne3 |
A |
T |
12: 104,921,841 (GRCm39) |
V438E |
possibly damaging |
Het |
Tagap1 |
T |
C |
17: 7,224,210 (GRCm39) |
D162G |
probably damaging |
Het |
Themis3 |
C |
A |
17: 66,866,949 (GRCm39) |
R97L |
probably benign |
Het |
Tnk1 |
T |
A |
11: 69,747,372 (GRCm39) |
E86D |
possibly damaging |
Het |
Tnpo3 |
A |
G |
6: 29,557,043 (GRCm39) |
L53P |
probably damaging |
Het |
Trpc6 |
G |
A |
9: 8,658,305 (GRCm39) |
R725K |
probably benign |
Het |
Ttll11 |
T |
G |
2: 35,685,391 (GRCm39) |
T566P |
probably damaging |
Het |
Unc5c |
A |
T |
3: 141,533,310 (GRCm39) |
T779S |
possibly damaging |
Het |
Zfp42 |
A |
G |
8: 43,748,638 (GRCm39) |
C288R |
possibly damaging |
Het |
Zfp763 |
G |
A |
17: 33,240,477 (GRCm39) |
T52I |
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 |
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 |
|
R8953:Terb1
|
UTSW |
8 |
105,195,431 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2014-03-28 |