Incidental Mutation 'R2047:Terb1'
ID |
222119 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Terb1
|
Ensembl Gene |
ENSMUSG00000052616 |
Gene Name |
telomere repeat binding bouquet formation protein 1 |
Synonyms |
Ccdc79, 4930532D21Rik |
MMRRC Submission |
040054-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2047 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
105173351-105236542 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 105212094 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 296
(Y296N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125431
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064576]
[ENSMUST00000159713]
[ENSMUST00000161520]
|
AlphaFold |
Q8C0V1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064576
AA Change: Y296N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000067324 Gene: ENSMUSG00000052616 AA Change: Y296N
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: Y295N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124706 Gene: ENSMUSG00000052616 AA Change: Y295N
Domain | Start | End | E-Value | Type |
SCOP:d1qgra_
|
10 |
335 |
6e-7 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161520
AA Change: Y296N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125431 Gene: ENSMUSG00000052616 AA Change: Y296N
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 |
|
Meta Mutation Damage Score |
0.1502 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
Validation Efficiency |
100% (57/57) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402N03Rik |
A |
G |
7: 130,747,836 (GRCm39) |
F52S |
probably damaging |
Het |
Acot12 |
T |
C |
13: 91,931,122 (GRCm39) |
S457P |
probably damaging |
Het |
Adcy5 |
G |
A |
16: 35,110,478 (GRCm39) |
V882M |
possibly damaging |
Het |
Ahnak |
A |
G |
19: 8,991,664 (GRCm39) |
D4316G |
possibly damaging |
Het |
Aldh1l2 |
G |
A |
10: 83,342,607 (GRCm39) |
A401V |
probably damaging |
Het |
Apol7e |
A |
G |
15: 77,601,810 (GRCm39) |
H136R |
probably benign |
Het |
Arl5a |
A |
G |
2: 52,302,072 (GRCm39) |
|
probably null |
Het |
Asns |
G |
T |
6: 7,680,093 (GRCm39) |
A341E |
probably damaging |
Het |
C7 |
A |
G |
15: 5,075,143 (GRCm39) |
L183P |
probably damaging |
Het |
Cacng2 |
C |
T |
15: 78,003,037 (GRCm39) |
A19T |
probably damaging |
Het |
Ccdc121rt2 |
A |
G |
5: 112,598,575 (GRCm39) |
N374S |
probably benign |
Het |
Ccr4 |
A |
G |
9: 114,321,633 (GRCm39) |
F144S |
probably damaging |
Het |
Ckap2 |
A |
G |
8: 22,658,763 (GRCm39) |
V660A |
probably benign |
Het |
Cramp1 |
A |
T |
17: 25,222,189 (GRCm39) |
Y176* |
probably null |
Het |
Dgki |
A |
G |
6: 36,890,581 (GRCm39) |
S922P |
possibly damaging |
Het |
Drd5 |
C |
T |
5: 38,477,679 (GRCm39) |
S224L |
probably damaging |
Het |
Ei24 |
T |
C |
9: 36,691,459 (GRCm39) |
K341E |
probably benign |
Het |
Eno2 |
A |
T |
6: 124,744,659 (GRCm39) |
|
probably benign |
Het |
Epb41l4a |
T |
C |
18: 33,961,259 (GRCm39) |
N425S |
probably benign |
Het |
F13b |
T |
G |
1: 139,435,961 (GRCm39) |
C256G |
probably damaging |
Het |
Gp6 |
A |
T |
7: 4,376,270 (GRCm39) |
|
probably benign |
Het |
H2-Q7 |
A |
T |
17: 35,659,123 (GRCm39) |
R191S |
probably damaging |
Het |
Ivns1abp |
T |
A |
1: 151,227,382 (GRCm39) |
S63R |
possibly damaging |
Het |
Kcnj16 |
A |
G |
11: 110,915,946 (GRCm39) |
|
probably null |
Het |
Lpcat4 |
T |
C |
2: 112,075,142 (GRCm39) |
|
probably null |
Het |
Lrrc14b |
T |
C |
13: 74,511,561 (GRCm39) |
K173R |
probably benign |
Het |
Maml3 |
C |
A |
3: 51,597,866 (GRCm39) |
R939S |
probably damaging |
Het |
Mrgpra2b |
C |
T |
7: 47,113,908 (GRCm39) |
V249I |
probably benign |
Het |
Mrpl46 |
T |
A |
7: 78,431,312 (GRCm39) |
Y82F |
probably damaging |
Het |
Mthfs |
T |
A |
9: 89,097,356 (GRCm39) |
I71N |
probably damaging |
Het |
Nectin4 |
T |
C |
1: 171,212,720 (GRCm39) |
V351A |
possibly damaging |
Het |
Npas3 |
T |
C |
12: 54,115,612 (GRCm39) |
F827L |
probably damaging |
Het |
Nrp1 |
G |
A |
8: 129,224,577 (GRCm39) |
|
probably benign |
Het |
Ocln |
C |
A |
13: 100,671,632 (GRCm39) |
A242S |
probably damaging |
Het |
Or10ad1c |
T |
A |
15: 98,084,920 (GRCm39) |
T253S |
probably damaging |
Het |
Or13g1 |
G |
A |
7: 85,956,012 (GRCm39) |
T103I |
probably damaging |
Het |
Or5d37 |
A |
T |
2: 87,924,237 (GRCm39) |
N14K |
probably benign |
Het |
Pappa |
T |
C |
4: 65,149,378 (GRCm39) |
|
probably benign |
Het |
Ptpn6 |
T |
C |
6: 124,698,752 (GRCm39) |
T480A |
probably benign |
Het |
Pycr1 |
A |
T |
11: 120,532,512 (GRCm39) |
D168E |
possibly damaging |
Het |
Rnf6 |
T |
C |
5: 146,148,674 (GRCm39) |
T126A |
probably damaging |
Het |
Slc25a39 |
G |
A |
11: 102,296,657 (GRCm39) |
|
probably benign |
Het |
Slc35f4 |
G |
T |
14: 49,541,029 (GRCm39) |
|
probably benign |
Het |
Sppl2a |
C |
T |
2: 126,768,772 (GRCm39) |
A112T |
probably damaging |
Het |
Sptbn1 |
A |
C |
11: 30,088,360 (GRCm39) |
|
probably benign |
Het |
Sqle |
T |
C |
15: 59,197,907 (GRCm39) |
Y376H |
probably benign |
Het |
Ttbk2 |
T |
C |
2: 120,579,397 (GRCm39) |
H506R |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,737,879 (GRCm39) |
D4220G |
probably benign |
Het |
Tub |
A |
G |
7: 108,625,939 (GRCm39) |
D230G |
probably benign |
Het |
Ube2d3 |
T |
A |
3: 135,170,967 (GRCm39) |
I137K |
probably benign |
Het |
Vldlr |
G |
T |
19: 27,212,238 (GRCm39) |
C84F |
probably damaging |
Het |
Vmn1r54 |
A |
T |
6: 90,246,970 (GRCm39) |
I295F |
probably damaging |
Het |
Vmn2r56 |
A |
G |
7: 12,466,918 (GRCm39) |
S39P |
probably damaging |
Het |
Zfp358 |
A |
G |
8: 3,545,934 (GRCm39) |
H172R |
probably damaging |
Het |
Zfp619 |
T |
C |
7: 39,187,062 (GRCm39) |
C1031R |
probably damaging |
Het |
Zfp777 |
A |
G |
6: 48,021,280 (GRCm39) |
I114T |
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 |
|
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 |
PCR Primer
(F):5'- GGGAAAGAAGCAAAACCATGTTTCC -3'
(R):5'- AAATGGTTATCTTGTAACTGAGACAA -3'
Sequencing Primer
(F):5'- AAAACCATGTTTCCACCCCTCTG -3'
(R):5'- TTCTAGGTCAGCCAGAACTACATGG -3'
|
Posted On |
2014-08-25 |