Incidental Mutation 'R6320:Terb1'
| ID |
510098 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Terb1
|
| Ensembl Gene |
ENSMUSG00000052616 |
| Gene Name |
telomere repeat binding bouquet formation protein 1 |
| Synonyms |
Ccdc79, 4930532D21Rik |
| MMRRC Submission |
044475-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6320 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
105173351-105236542 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 105173831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 751
(D751Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067324
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041769]
[ENSMUST00000064576]
[ENSMUST00000159713]
[ENSMUST00000161520]
[ENSMUST00000212654]
[ENSMUST00000212148]
|
| AlphaFold |
Q8C0V1 |
| PDB Structure |
Solution structures of the myb-like DNA binding domain of 4930532D21Rik protein [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041769
|
| SMART Domains |
Protein: ENSMUSP00000045480
Gene: ENSMUSG00000035770
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DLIC
|
30 |
491 |
5.8e-264 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064576
AA Change: D751Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067324
Gene: ENSMUSG00000052616
AA Change: D751Y
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211969
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212040
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212654
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212148
|
| Meta Mutation Damage Score |
0.3783 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (63/63) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1b |
G |
T |
3: 20,369,943 (GRCm39) |
A221D |
probably benign |
Het |
| Aldh18a1 |
A |
T |
19: 40,559,005 (GRCm39) |
D280E |
probably benign |
Het |
| Apob |
G |
A |
12: 8,039,194 (GRCm39) |
D475N |
probably benign |
Het |
| Bmi1 |
C |
T |
2: 18,689,186 (GRCm39) |
T290I |
probably benign |
Het |
| Brd8 |
A |
T |
18: 34,746,292 (GRCm39) |
D139E |
possibly damaging |
Het |
| Cacna1e |
C |
A |
1: 154,317,270 (GRCm39) |
V1467F |
possibly damaging |
Het |
| Cdh15 |
A |
G |
8: 123,591,086 (GRCm39) |
D445G |
probably benign |
Het |
| Ceacam5 |
T |
A |
7: 17,481,123 (GRCm39) |
L290H |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,785,160 (GRCm39) |
Q3025K |
probably benign |
Het |
| Chi3l1 |
T |
A |
1: 134,109,996 (GRCm39) |
M1K |
probably null |
Het |
| Crybg2 |
T |
C |
4: 133,808,737 (GRCm39) |
S1404P |
probably damaging |
Het |
| Cubn |
C |
A |
2: 13,285,006 (GRCm39) |
C3470F |
probably damaging |
Het |
| Cyp20a1 |
T |
C |
1: 60,391,331 (GRCm39) |
|
probably null |
Het |
| Cyp24a1 |
G |
T |
2: 170,328,704 (GRCm39) |
T408K |
probably benign |
Het |
| Cyp2a12 |
A |
T |
7: 26,730,577 (GRCm39) |
I181F |
possibly damaging |
Het |
| Dnm1l |
A |
T |
16: 16,149,952 (GRCm39) |
I268N |
probably damaging |
Het |
| Eif2a |
A |
G |
3: 58,464,517 (GRCm39) |
|
probably null |
Het |
| Epg5 |
T |
C |
18: 78,005,613 (GRCm39) |
F701S |
probably damaging |
Het |
| Fbxo46 |
T |
C |
7: 18,870,466 (GRCm39) |
S362P |
possibly damaging |
Het |
| Fgf22 |
A |
G |
10: 79,592,830 (GRCm39) |
|
probably benign |
Het |
| Fhod1 |
A |
C |
8: 106,063,982 (GRCm39) |
|
probably benign |
Het |
| Flnc |
T |
A |
6: 29,459,062 (GRCm39) |
V2448D |
probably damaging |
Het |
| Gm2696 |
G |
T |
10: 77,671,972 (GRCm39) |
|
probably benign |
Het |
| Gmpr |
T |
C |
13: 45,685,874 (GRCm39) |
S214P |
possibly damaging |
Het |
| Krt6a |
A |
G |
15: 101,600,744 (GRCm39) |
V308A |
probably damaging |
Het |
| Lig3 |
T |
A |
11: 82,684,833 (GRCm39) |
|
probably null |
Het |
| Lrrc37a |
T |
A |
11: 103,394,877 (GRCm39) |
N183Y |
probably benign |
Het |
| Mapk8ip3 |
C |
A |
17: 25,125,879 (GRCm39) |
G422V |
probably damaging |
Het |
| Mks1 |
T |
C |
11: 87,746,325 (GRCm39) |
S97P |
probably benign |
Het |
| Mphosph9 |
A |
T |
5: 124,463,024 (GRCm39) |
V7E |
probably damaging |
Het |
| Msh5 |
A |
G |
17: 35,248,900 (GRCm39) |
L711P |
probably damaging |
Het |
| Naga |
T |
A |
15: 82,216,404 (GRCm39) |
|
probably null |
Het |
| Nherf4 |
A |
G |
9: 44,159,980 (GRCm39) |
V380A |
probably benign |
Het |
| Nlrp10 |
T |
A |
7: 108,524,953 (GRCm39) |
T176S |
possibly damaging |
Het |
| Nqo1 |
T |
C |
8: 108,115,582 (GRCm39) |
N232D |
probably benign |
Het |
| Or1j21 |
C |
G |
2: 36,683,585 (GRCm39) |
N112K |
possibly damaging |
Het |
| Or2b6 |
T |
A |
13: 21,823,418 (GRCm39) |
I92L |
probably damaging |
Het |
| P2ry6 |
A |
G |
7: 100,587,603 (GRCm39) |
F252S |
probably damaging |
Het |
| P3h3 |
G |
A |
6: 124,831,835 (GRCm39) |
R317W |
probably benign |
Het |
| Pakap |
T |
A |
4: 57,710,173 (GRCm39) |
C373S |
probably damaging |
Het |
| Phkb |
T |
A |
8: 86,602,327 (GRCm39) |
D39E |
probably benign |
Het |
| Psg16 |
G |
A |
7: 16,822,112 (GRCm39) |
G23D |
probably damaging |
Het |
| Ptgr2 |
T |
A |
12: 84,349,111 (GRCm39) |
I150K |
probably benign |
Het |
| Ptprf |
A |
G |
4: 118,070,011 (GRCm39) |
V1457A |
probably benign |
Het |
| Sart3 |
A |
T |
5: 113,889,301 (GRCm39) |
Y508N |
probably benign |
Het |
| Sh3bp1 |
C |
T |
15: 78,795,715 (GRCm39) |
P615S |
probably damaging |
Het |
| Ska3 |
A |
T |
14: 58,054,148 (GRCm39) |
N267K |
probably benign |
Het |
| Slc26a7 |
A |
G |
4: 14,524,498 (GRCm39) |
I462T |
probably benign |
Het |
| Slu7 |
C |
T |
11: 43,332,316 (GRCm39) |
A244V |
probably benign |
Het |
| Smarca4 |
C |
T |
9: 21,548,671 (GRCm39) |
P319L |
probably damaging |
Het |
| Smg9 |
A |
G |
7: 24,120,286 (GRCm39) |
D420G |
probably benign |
Het |
| Strc |
T |
A |
2: 121,205,439 (GRCm39) |
D25V |
probably benign |
Het |
| Syne2 |
T |
G |
12: 76,108,424 (GRCm39) |
V936G |
probably damaging |
Het |
| Tbc1d7 |
C |
T |
13: 43,306,409 (GRCm39) |
|
probably benign |
Het |
| Trpc1 |
A |
G |
9: 95,603,303 (GRCm39) |
Y410H |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,089,043 (GRCm39) |
N333D |
probably benign |
Het |
| Usp34 |
T |
C |
11: 23,402,520 (GRCm39) |
S2438P |
probably damaging |
Het |
| Vps35l |
T |
C |
7: 118,353,072 (GRCm39) |
V189A |
probably benign |
Het |
| Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
probably benign |
Het |
| Zfp7 |
G |
A |
15: 76,774,810 (GRCm39) |
G284D |
possibly damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,286,776 (GRCm39) |
S2271P |
probably damaging |
Het |
| Zscan18 |
G |
A |
7: 12,509,147 (GRCm39) |
|
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 |
|
|
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 |
|
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'- TCCACACTGAAAATGCACTTGC -3'
(R):5'- GGCATCAAATTGTCTCATTCTGTGG -3'
Sequencing Primer
(F):5'- CCCGTCTCACAAGAGTTAAG -3'
(R):5'- GTCGTAAGGTTTCTTATTTCAGCAAG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation