Incidental Mutation 'IGL03410:Terb1'
| ID |
421775 |
| 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 # |
IGL03410
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
105173351-105236542 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 105199674 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 |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
A |
17: 9,220,728 (GRCm39) |
V409E |
probably damaging |
Het |
| 1700086D15Rik |
A |
G |
11: 65,043,393 (GRCm39) |
|
probably benign |
Het |
| Apba1 |
A |
G |
19: 23,914,945 (GRCm39) |
N715S |
possibly damaging |
Het |
| Arfgef3 |
G |
T |
10: 18,476,238 (GRCm39) |
A1527D |
probably damaging |
Het |
| Cmtm2a |
G |
T |
8: 105,010,501 (GRCm39) |
P133T |
probably damaging |
Het |
| Cyp2d9 |
T |
C |
15: 82,340,900 (GRCm39) |
V483A |
probably benign |
Het |
| Dclre1b |
T |
A |
3: 103,715,456 (GRCm39) |
D14V |
probably damaging |
Het |
| Dock5 |
T |
C |
14: 68,083,535 (GRCm39) |
I125V |
probably benign |
Het |
| Dok3 |
G |
T |
13: 55,672,044 (GRCm39) |
Y211* |
probably null |
Het |
| Fat4 |
T |
C |
3: 38,945,325 (GRCm39) |
V1406A |
probably damaging |
Het |
| Fbn2 |
A |
G |
18: 58,183,315 (GRCm39) |
F1790S |
possibly damaging |
Het |
| Gm4787 |
A |
T |
12: 81,425,948 (GRCm39) |
M70K |
probably damaging |
Het |
| Gulp1 |
A |
T |
1: 44,747,777 (GRCm39) |
D10V |
probably damaging |
Het |
| Hagh |
T |
C |
17: 25,079,916 (GRCm39) |
|
probably benign |
Het |
| Htt |
A |
G |
5: 34,956,789 (GRCm39) |
E206G |
probably damaging |
Het |
| Hyou1 |
A |
G |
9: 44,299,355 (GRCm39) |
E682G |
probably benign |
Het |
| Ift56 |
T |
C |
6: 38,362,435 (GRCm39) |
L70P |
probably damaging |
Het |
| Igkv4-59 |
G |
T |
6: 69,415,450 (GRCm39) |
A35E |
probably damaging |
Het |
| Krt78 |
A |
G |
15: 101,862,421 (GRCm39) |
V80A |
probably damaging |
Het |
| Lars2 |
G |
A |
9: 123,247,841 (GRCm39) |
A333T |
possibly damaging |
Het |
| Lrrc4 |
G |
A |
6: 28,830,515 (GRCm39) |
R367W |
probably damaging |
Het |
| Med1 |
A |
T |
11: 98,080,009 (GRCm39) |
M44K |
possibly damaging |
Het |
| Mep1a |
T |
A |
17: 43,788,986 (GRCm39) |
|
probably null |
Het |
| Mmrn1 |
A |
G |
6: 60,952,819 (GRCm39) |
I367V |
probably benign |
Het |
| Myo18a |
T |
C |
11: 77,738,830 (GRCm39) |
L1677P |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,209,717 (GRCm39) |
T246A |
probably benign |
Het |
| Nkiras1 |
A |
G |
14: 18,280,073 (GRCm38) |
R155G |
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,089,379 (GRCm39) |
N726S |
probably benign |
Het |
| Nyap2 |
A |
G |
1: 81,219,156 (GRCm39) |
T393A |
possibly damaging |
Het |
| Oprm1 |
A |
T |
10: 6,780,051 (GRCm39) |
I238F |
probably damaging |
Het |
| Or4b1b |
A |
G |
2: 90,112,557 (GRCm39) |
Y121H |
probably damaging |
Het |
| Or4b1d |
G |
A |
2: 89,969,489 (GRCm39) |
|
probably benign |
Het |
| Or5m11b |
T |
A |
2: 85,805,764 (GRCm39) |
M59K |
probably damaging |
Het |
| Pcnx2 |
T |
A |
8: 126,613,779 (GRCm39) |
E557D |
probably damaging |
Het |
| Pole |
A |
G |
5: 110,472,425 (GRCm39) |
I1563V |
probably benign |
Het |
| Pramel21 |
C |
A |
4: 143,341,851 (GRCm39) |
H93Q |
probably benign |
Het |
| Prdx3 |
T |
G |
19: 60,859,848 (GRCm39) |
|
probably benign |
Het |
| Rgsl1 |
C |
T |
1: 153,669,501 (GRCm39) |
R295K |
probably null |
Het |
| Rhbdl2 |
T |
A |
4: 123,723,463 (GRCm39) |
L289* |
probably null |
Het |
| Rnps1 |
A |
G |
17: 24,640,835 (GRCm39) |
|
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,395,823 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
A |
T |
13: 11,603,033 (GRCm39) |
Y4518N |
probably damaging |
Het |
| Scyl3 |
A |
G |
1: 163,772,436 (GRCm39) |
N296S |
probably damaging |
Het |
| Sipa1l3 |
G |
A |
7: 29,047,964 (GRCm39) |
T1308M |
probably damaging |
Het |
| Slc39a9 |
A |
G |
12: 80,691,662 (GRCm39) |
D3G |
probably damaging |
Het |
| Slc4a9 |
A |
G |
18: 36,662,740 (GRCm39) |
E165G |
probably benign |
Het |
| Slc6a3 |
A |
T |
13: 73,686,776 (GRCm39) |
I48F |
probably benign |
Het |
| Stxbp3 |
C |
T |
3: 108,709,476 (GRCm39) |
C354Y |
probably damaging |
Het |
| Tfrc |
G |
A |
16: 32,443,649 (GRCm39) |
|
probably null |
Het |
| Toporsl |
A |
C |
4: 52,611,134 (GRCm39) |
R342S |
probably benign |
Het |
| Ube2d3 |
T |
A |
3: 135,170,978 (GRCm39) |
W141R |
probably damaging |
Het |
| Vps13b |
G |
T |
15: 35,910,486 (GRCm39) |
V3417L |
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 |
|
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 |
2016-08-02 |
Incidental Mutation