Incidental Mutation 'IGL02974:Terb1'
ID |
406292 |
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 # |
IGL02974
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
105173351-105236542 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 105221600 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Stop codon
at position 202
(S202*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125431
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064576]
[ENSMUST00000159713]
[ENSMUST00000161520]
|
AlphaFold |
Q8C0V1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000064576
AA Change: S202*
|
SMART Domains |
Protein: ENSMUSP00000067324 Gene: ENSMUSG00000052616 AA Change: S202*
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 null
Transcript: ENSMUST00000159713
AA Change: S202*
|
SMART Domains |
Protein: ENSMUSP00000124706 Gene: ENSMUSG00000052616 AA Change: S202*
Domain | Start | End | E-Value | Type |
SCOP:d1qgra_
|
10 |
335 |
6e-7 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000161520
AA Change: S202*
|
SMART Domains |
Protein: ENSMUSP00000125431 Gene: ENSMUSG00000052616 AA Change: S202*
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730480H06Rik |
C |
T |
5: 48,545,479 (GRCm39) |
T242M |
probably damaging |
Het |
Abcg3 |
A |
T |
5: 105,116,129 (GRCm39) |
I235N |
probably damaging |
Het |
Agbl3 |
T |
C |
6: 34,776,757 (GRCm39) |
L416S |
probably damaging |
Het |
Alcam |
T |
C |
16: 52,116,079 (GRCm39) |
D165G |
probably benign |
Het |
Aldh18a1 |
T |
A |
19: 40,557,528 (GRCm39) |
I341F |
probably damaging |
Het |
Amn |
T |
C |
12: 111,237,575 (GRCm39) |
V7A |
probably benign |
Het |
Apc |
C |
T |
18: 34,401,436 (GRCm39) |
|
probably benign |
Het |
Arg2 |
T |
C |
12: 79,197,566 (GRCm39) |
Y195H |
probably damaging |
Het |
Bdp1 |
A |
T |
13: 100,191,800 (GRCm39) |
M22K |
probably benign |
Het |
Cacna1s |
T |
G |
1: 136,020,355 (GRCm39) |
N797K |
possibly damaging |
Het |
Chd8 |
T |
A |
14: 52,439,158 (GRCm39) |
|
probably null |
Het |
Clstn2 |
G |
A |
9: 97,414,760 (GRCm39) |
T378M |
probably damaging |
Het |
Elf2 |
A |
G |
3: 51,165,110 (GRCm39) |
V298A |
probably damaging |
Het |
Fbn1 |
C |
T |
2: 125,188,250 (GRCm39) |
D1530N |
probably null |
Het |
Fcrl2 |
A |
T |
3: 87,164,704 (GRCm39) |
I274N |
possibly damaging |
Het |
Fmo3 |
C |
T |
1: 162,810,619 (GRCm39) |
E24K |
probably damaging |
Het |
Fndc3b |
A |
T |
3: 27,542,425 (GRCm39) |
N408K |
probably damaging |
Het |
Foxn2 |
A |
T |
17: 88,770,543 (GRCm39) |
N130I |
probably damaging |
Het |
Fscb |
T |
A |
12: 64,518,299 (GRCm39) |
I1056F |
unknown |
Het |
Gimap5 |
A |
C |
6: 48,730,311 (GRCm39) |
T294P |
possibly damaging |
Het |
Gm20489 |
T |
C |
X: 100,307,320 (GRCm39) |
Q11R |
probably damaging |
Het |
Gpr3 |
T |
C |
4: 132,938,220 (GRCm39) |
T151A |
possibly damaging |
Het |
Gzmc |
T |
A |
14: 56,471,451 (GRCm39) |
H30L |
probably damaging |
Het |
Ints6l |
C |
A |
X: 55,552,296 (GRCm39) |
S845Y |
probably benign |
Het |
Iqcf3 |
A |
T |
9: 106,430,844 (GRCm39) |
C101* |
probably null |
Het |
Krt82 |
G |
A |
15: 101,459,020 (GRCm39) |
Q7* |
probably null |
Het |
L3mbtl1 |
A |
T |
2: 162,812,103 (GRCm39) |
H716L |
possibly damaging |
Het |
Lefty1 |
C |
A |
1: 180,762,842 (GRCm39) |
H56Q |
probably benign |
Het |
Lrp1 |
T |
C |
10: 127,390,885 (GRCm39) |
Y3004C |
probably damaging |
Het |
Lrp10 |
C |
A |
14: 54,705,341 (GRCm39) |
S177* |
probably null |
Het |
Naa15 |
A |
G |
3: 51,368,628 (GRCm39) |
K576R |
possibly damaging |
Het |
Naip2 |
A |
G |
13: 100,298,186 (GRCm39) |
S617P |
probably damaging |
Het |
Olfm1 |
T |
G |
2: 28,119,701 (GRCm39) |
N445K |
probably damaging |
Het |
Or4ac1-ps1 |
C |
T |
2: 88,370,579 (GRCm39) |
|
silent |
Het |
Or5b24 |
T |
G |
19: 12,912,399 (GRCm39) |
V99G |
probably benign |
Het |
Ostm1 |
T |
A |
10: 42,559,158 (GRCm39) |
N139K |
probably damaging |
Het |
Ovol1 |
A |
G |
19: 5,601,177 (GRCm39) |
Y205H |
probably damaging |
Het |
Pappa |
C |
T |
4: 65,123,172 (GRCm39) |
L836F |
probably damaging |
Het |
Pcdhb15 |
C |
A |
18: 37,608,067 (GRCm39) |
T433N |
probably damaging |
Het |
Ppfia2 |
A |
G |
10: 106,636,637 (GRCm39) |
K229E |
probably benign |
Het |
Ppm1b |
T |
A |
17: 85,301,252 (GRCm39) |
V44E |
possibly damaging |
Het |
Rapgef1 |
T |
C |
2: 29,600,228 (GRCm39) |
F611L |
possibly damaging |
Het |
Rev3l |
T |
A |
10: 39,738,743 (GRCm39) |
Y2832* |
probably null |
Het |
Robo1 |
T |
A |
16: 72,803,750 (GRCm39) |
Y1099N |
probably benign |
Het |
Sf3b1 |
T |
C |
1: 55,046,866 (GRCm39) |
H226R |
probably benign |
Het |
Slc26a4 |
C |
T |
12: 31,579,553 (GRCm39) |
V570I |
probably damaging |
Het |
Slc27a1 |
C |
A |
8: 72,036,847 (GRCm39) |
A361D |
probably damaging |
Het |
Srp68 |
T |
C |
11: 116,137,051 (GRCm39) |
N549D |
probably benign |
Het |
Tmc1 |
T |
A |
19: 20,878,208 (GRCm39) |
M96L |
probably benign |
Het |
Tmprss11d |
A |
G |
5: 86,454,235 (GRCm39) |
V190A |
probably damaging |
Het |
Ttll6 |
G |
A |
11: 96,047,528 (GRCm39) |
C709Y |
probably benign |
Het |
Uba1 |
A |
G |
X: 20,544,959 (GRCm39) |
H712R |
probably benign |
Het |
Unc80 |
A |
C |
1: 66,564,817 (GRCm39) |
T835P |
possibly damaging |
Het |
Vmn2r14 |
G |
A |
5: 109,369,292 (GRCm39) |
P94S |
possibly damaging |
Het |
Yes1 |
C |
T |
5: 32,818,112 (GRCm39) |
A383V |
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 |
|
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 |
2016-08-02 |