Incidental Mutation 'IGL02041:Terb1'
| ID |
184755 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Terb1
|
| Ensembl Gene |
ENSMUSG00000052616 |
| Gene Name |
telomere repeat binding bouquet formation protein 1 |
| Synonyms |
Ccdc79, 4930532D21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02041
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
105173351-105236542 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 105221746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 185
(C185G)
|
| 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: C185G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067324
Gene: ENSMUSG00000052616
AA Change: C185G
| 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: C185G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124706
Gene: ENSMUSG00000052616
AA Change: C185G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1qgra_
|
10 |
335 |
6e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161520
AA Change: C185G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125431
Gene: ENSMUSG00000052616
AA Change: C185G
| 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 |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
T |
19: 43,772,674 (GRCm39) |
Q28L |
probably damaging |
Het |
| Abtb3 |
G |
A |
10: 85,223,418 (GRCm39) |
D76N |
unknown |
Het |
| Afg1l |
A |
G |
10: 42,330,376 (GRCm39) |
V97A |
probably damaging |
Het |
| Akap6 |
A |
C |
12: 53,187,436 (GRCm39) |
S1617R |
probably damaging |
Het |
| Aldh1a3 |
T |
C |
7: 66,057,579 (GRCm39) |
N285D |
probably damaging |
Het |
| Arhgap20 |
A |
T |
9: 51,757,490 (GRCm39) |
N494I |
possibly damaging |
Het |
| Atg9a |
G |
T |
1: 75,159,748 (GRCm39) |
Q712K |
possibly damaging |
Het |
| Cdcp2 |
G |
A |
4: 106,964,386 (GRCm39) |
|
probably benign |
Het |
| Cds2 |
T |
A |
2: 132,136,363 (GRCm39) |
I84N |
possibly damaging |
Het |
| Clcn3 |
T |
C |
8: 61,376,187 (GRCm39) |
I596V |
probably damaging |
Het |
| Ctxn1 |
A |
G |
8: 4,308,514 (GRCm39) |
L39P |
probably damaging |
Het |
| Efhb |
A |
T |
17: 53,733,287 (GRCm39) |
V528D |
probably damaging |
Het |
| Fmod |
T |
G |
1: 133,968,001 (GRCm39) |
S14A |
probably benign |
Het |
| Foxh1 |
A |
G |
15: 76,553,120 (GRCm39) |
F198S |
probably damaging |
Het |
| Gcc2 |
A |
G |
10: 58,105,103 (GRCm39) |
E77G |
probably damaging |
Het |
| Gm5420 |
G |
T |
10: 21,566,933 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6434 |
T |
G |
7: 25,581,655 (GRCm39) |
|
noncoding transcript |
Het |
| Il1b |
A |
T |
2: 129,211,662 (GRCm39) |
N19K |
possibly damaging |
Het |
| Lama2 |
T |
A |
10: 26,860,322 (GRCm39) |
D3055V |
probably damaging |
Het |
| Lcn3 |
G |
A |
2: 25,655,636 (GRCm39) |
V18I |
probably benign |
Het |
| Lpcat2 |
A |
G |
8: 93,644,809 (GRCm39) |
S533G |
probably benign |
Het |
| Map4k2 |
G |
A |
19: 6,401,348 (GRCm39) |
R606Q |
probably benign |
Het |
| Mtnr1b |
T |
C |
9: 15,774,589 (GRCm39) |
T157A |
probably benign |
Het |
| Myo15a |
G |
A |
11: 60,397,689 (GRCm39) |
E2705K |
probably damaging |
Het |
| Ncf2 |
A |
G |
1: 152,711,871 (GRCm39) |
|
probably benign |
Het |
| Nfkbil1 |
G |
A |
17: 35,439,934 (GRCm39) |
T193M |
probably benign |
Het |
| Nmi |
T |
G |
2: 51,850,641 (GRCm39) |
K9T |
possibly damaging |
Het |
| Or2d4 |
T |
C |
7: 106,543,320 (GRCm39) |
D296G |
possibly damaging |
Het |
| Or5p69 |
T |
C |
7: 107,966,742 (GRCm39) |
F15S |
probably damaging |
Het |
| Or6c6c |
A |
G |
10: 129,541,104 (GRCm39) |
D119G |
probably damaging |
Het |
| Osbpl7 |
T |
A |
11: 96,951,334 (GRCm39) |
C502S |
probably benign |
Het |
| Pex5 |
A |
T |
6: 124,382,240 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,356,452 (GRCm39) |
|
probably null |
Het |
| Prmt3 |
C |
T |
7: 49,478,711 (GRCm39) |
T424M |
possibly damaging |
Het |
| Rapgef4 |
G |
A |
2: 72,029,140 (GRCm39) |
G404D |
probably damaging |
Het |
| Rbm5 |
C |
T |
9: 107,633,045 (GRCm39) |
|
probably benign |
Het |
| Rfc2 |
T |
A |
5: 134,623,098 (GRCm39) |
F238L |
probably benign |
Het |
| Rsl1 |
A |
G |
13: 67,324,612 (GRCm39) |
E46G |
probably damaging |
Het |
| Sall1 |
A |
G |
8: 89,758,097 (GRCm39) |
F669S |
probably damaging |
Het |
| Sipa1l2 |
A |
G |
8: 126,218,558 (GRCm39) |
S260P |
probably benign |
Het |
| Slc26a8 |
A |
G |
17: 28,861,225 (GRCm39) |
Y820H |
probably damaging |
Het |
| Tas2r115 |
A |
G |
6: 132,714,430 (GRCm39) |
F174L |
probably benign |
Het |
| Vmn2r108 |
A |
T |
17: 20,683,398 (GRCm39) |
V602E |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,514,703 (GRCm39) |
I89F |
probably damaging |
Het |
| Vps13b |
G |
T |
15: 35,423,391 (GRCm39) |
R237L |
probably damaging |
Het |
| Zfp865 |
T |
C |
7: 5,034,372 (GRCm39) |
S786P |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation