Incidental Mutation 'R5440:Terb1'
ID |
428586 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Terb1
|
Ensembl Gene |
ENSMUSG00000052616 |
Gene Name |
telomere repeat binding bouquet formation protein 1 |
Synonyms |
Ccdc79, 4930532D21Rik |
MMRRC Submission |
043005-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5440 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
105173351-105236542 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 105215131 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 282
(I282V)
|
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: I282V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000067324 Gene: ENSMUSG00000052616 AA Change: I282V
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 damaging
Transcript: ENSMUST00000159713
AA Change: I282V
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000124706 Gene: ENSMUSG00000052616 AA Change: I282V
Domain | Start | End | E-Value | Type |
SCOP:d1qgra_
|
10 |
335 |
6e-7 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161520
AA Change: I282V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000125431 Gene: ENSMUSG00000052616 AA Change: I282V
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apc |
G |
T |
18: 34,354,213 (GRCm39) |
|
probably benign |
Het |
Apol11b |
T |
A |
15: 77,519,793 (GRCm39) |
K96* |
probably null |
Het |
Arhgap35 |
C |
T |
7: 16,296,849 (GRCm39) |
G739S |
probably damaging |
Het |
Atp6v0a4 |
A |
C |
6: 38,069,752 (GRCm39) |
F47V |
probably damaging |
Het |
Bcl9 |
G |
A |
3: 97,117,881 (GRCm39) |
P271L |
probably benign |
Het |
Cd109 |
T |
C |
9: 78,587,446 (GRCm39) |
|
probably null |
Het |
Col12a1 |
T |
A |
9: 79,521,645 (GRCm39) |
I2771F |
probably benign |
Het |
Col6a1 |
A |
G |
10: 76,559,288 (GRCm39) |
V116A |
probably damaging |
Het |
Cpsf2 |
C |
G |
12: 101,963,138 (GRCm39) |
L401V |
probably benign |
Het |
Cwf19l2 |
G |
A |
9: 3,475,549 (GRCm39) |
E829K |
probably damaging |
Het |
D7Ertd443e |
G |
A |
7: 133,951,004 (GRCm39) |
T223I |
probably damaging |
Het |
Dtx4 |
G |
A |
19: 12,469,681 (GRCm39) |
R149C |
probably damaging |
Het |
Fam186b |
C |
T |
15: 99,171,734 (GRCm39) |
A838T |
possibly damaging |
Het |
Fzd4 |
G |
T |
7: 89,057,326 (GRCm39) |
E458* |
probably null |
Het |
Gm17669 |
C |
T |
18: 67,695,526 (GRCm39) |
P24S |
possibly damaging |
Het |
Grin2b |
C |
T |
6: 135,713,304 (GRCm39) |
G859D |
probably damaging |
Het |
Gucy2e |
T |
C |
11: 69,114,472 (GRCm39) |
Y1019C |
probably damaging |
Het |
Gzme |
T |
A |
14: 56,355,910 (GRCm39) |
N134I |
possibly damaging |
Het |
Havcr1 |
A |
T |
11: 46,643,197 (GRCm39) |
Y39F |
probably damaging |
Het |
Hint3 |
A |
T |
10: 30,494,347 (GRCm39) |
M1K |
probably null |
Het |
Hspa4l |
A |
G |
3: 40,736,008 (GRCm39) |
K543R |
probably damaging |
Het |
Ifna9 |
A |
G |
4: 88,510,048 (GRCm39) |
|
probably null |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Lipo2 |
A |
G |
19: 33,698,258 (GRCm39) |
I373T |
probably benign |
Het |
Myo5c |
T |
A |
9: 75,165,407 (GRCm39) |
I405N |
possibly damaging |
Het |
Or10a49 |
T |
C |
7: 108,467,833 (GRCm39) |
H176R |
probably damaging |
Het |
P2rx1 |
A |
G |
11: 72,899,329 (GRCm39) |
M108V |
probably benign |
Het |
Pcsk2 |
T |
A |
2: 143,388,463 (GRCm39) |
V18E |
probably benign |
Het |
Pigr |
A |
T |
1: 130,777,359 (GRCm39) |
|
probably null |
Het |
Pkp1 |
A |
T |
1: 135,810,230 (GRCm39) |
C447S |
probably benign |
Het |
Prom1 |
T |
A |
5: 44,215,988 (GRCm39) |
I96F |
probably benign |
Het |
Prpf4b |
T |
C |
13: 35,068,076 (GRCm39) |
|
probably benign |
Het |
Ropn1 |
C |
A |
16: 34,491,542 (GRCm39) |
D102E |
probably benign |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Sphk1 |
T |
G |
11: 116,425,714 (GRCm39) |
V17G |
possibly damaging |
Het |
Syngr1 |
A |
G |
15: 79,982,219 (GRCm39) |
N2S |
probably benign |
Het |
Syt9 |
T |
G |
7: 107,101,330 (GRCm39) |
S359A |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,739,600 (GRCm39) |
D3646E |
probably benign |
Het |
Ube2d1 |
A |
G |
10: 71,091,682 (GRCm39) |
W141R |
probably damaging |
Het |
Vmn2r41 |
T |
A |
7: 8,141,362 (GRCm39) |
I701F |
probably damaging |
Het |
Zfp770 |
T |
C |
2: 114,026,596 (GRCm39) |
D491G |
probably benign |
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 |
|
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 |
PCR Primer
(F):5'- CCTAAAGTCAGACTTAGATATGAATCC -3'
(R):5'- ACATTATCATTGTACTGTGTCAGGG -3'
Sequencing Primer
(F):5'- CAGCATTCACTGTGTTCA -3'
(R):5'- TCAGGGGGAATGTTACTATGTTAC -3'
|
Posted On |
2016-09-01 |