Incidental Mutation 'R8329:Terb1'
| ID |
644260 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Terb1
|
| Ensembl Gene |
ENSMUSG00000052616 |
| Gene Name |
telomere repeat binding bouquet formation protein 1 |
| Synonyms |
Ccdc79, 4930532D21Rik |
| MMRRC Submission |
067859-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8329 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
105173351-105236542 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105211003 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 341
(N341K)
|
| 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: N341K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067324
Gene: ENSMUSG00000052616
AA Change: N341K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (62/62) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
T |
A |
4: 62,461,978 (GRCm39) |
|
probably null |
Het |
| Ackr4 |
A |
G |
9: 103,976,660 (GRCm39) |
F96L |
possibly damaging |
Het |
| Aco1 |
T |
C |
4: 40,186,376 (GRCm39) |
I596T |
possibly damaging |
Het |
| Aff3 |
G |
A |
1: 38,244,135 (GRCm39) |
R879W |
probably benign |
Het |
| Apob |
A |
G |
12: 8,061,135 (GRCm39) |
R3206G |
probably damaging |
Het |
| Atg7 |
T |
A |
6: 114,663,057 (GRCm39) |
D224E |
possibly damaging |
Het |
| Capn12 |
T |
C |
7: 28,582,626 (GRCm39) |
F167S |
probably damaging |
Het |
| Ccdc3 |
T |
G |
2: 5,233,848 (GRCm39) |
V224G |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,874,714 (GRCm39) |
V452I |
probably damaging |
Het |
| Cherp |
G |
A |
8: 73,215,852 (GRCm39) |
R834C |
|
Het |
| Clptm1l |
T |
A |
13: 73,760,547 (GRCm39) |
I310N |
probably damaging |
Het |
| Cog3 |
A |
T |
14: 75,978,003 (GRCm39) |
D230E |
probably damaging |
Het |
| Crb1 |
T |
A |
1: 139,165,005 (GRCm39) |
I1101F |
probably damaging |
Het |
| Cts6 |
A |
T |
13: 61,343,282 (GRCm39) |
M313K |
probably damaging |
Het |
| Cyp2c66 |
T |
A |
19: 39,174,906 (GRCm39) |
C435* |
probably null |
Het |
| Defb13 |
A |
G |
8: 22,438,562 (GRCm39) |
E40G |
probably benign |
Het |
| Dis3l |
T |
C |
9: 64,219,112 (GRCm39) |
D606G |
possibly damaging |
Het |
| Dop1b |
T |
C |
16: 93,568,675 (GRCm39) |
L1579P |
probably damaging |
Het |
| Foxa3 |
A |
G |
7: 18,748,109 (GRCm39) |
V339A |
probably benign |
Het |
| Gcn1 |
G |
A |
5: 115,747,921 (GRCm39) |
G1776E |
probably damaging |
Het |
| Gls2 |
A |
G |
10: 128,037,154 (GRCm39) |
T232A |
probably benign |
Het |
| Gprc6a |
A |
T |
10: 51,503,355 (GRCm39) |
Y169* |
probably null |
Het |
| Guca2b |
T |
C |
4: 119,516,001 (GRCm39) |
S18G |
unknown |
Het |
| Hars2 |
A |
G |
18: 36,922,288 (GRCm39) |
D301G |
possibly damaging |
Het |
| Haus5 |
T |
A |
7: 30,358,984 (GRCm39) |
Q226L |
possibly damaging |
Het |
| Hc |
G |
A |
2: 34,902,910 (GRCm39) |
|
probably null |
Het |
| Hivep2 |
T |
C |
10: 14,004,011 (GRCm39) |
V203A |
probably damaging |
Het |
| Hoxc8 |
A |
G |
15: 102,899,543 (GRCm39) |
Y111C |
probably damaging |
Het |
| Hoxd13 |
G |
T |
2: 74,498,661 (GRCm39) |
R3L |
probably benign |
Het |
| Hspa8 |
T |
G |
9: 40,713,897 (GRCm39) |
I130S |
probably damaging |
Het |
| Ier5l |
C |
A |
2: 30,362,861 (GRCm39) |
C388F |
possibly damaging |
Het |
| Ldc1 |
C |
T |
4: 130,109,156 (GRCm39) |
V295M |
possibly damaging |
Het |
| Lmx1a |
A |
G |
1: 167,517,372 (GRCm39) |
N10S |
probably benign |
Het |
| Map2 |
T |
C |
1: 66,454,272 (GRCm39) |
I1054T |
probably benign |
Het |
| Me1 |
C |
T |
9: 86,501,790 (GRCm39) |
D268N |
probably damaging |
Het |
| Muc6 |
G |
A |
7: 141,226,525 (GRCm39) |
P1501S |
unknown |
Het |
| Myo1d |
T |
C |
11: 80,528,900 (GRCm39) |
M641V |
probably benign |
Het |
| Nuggc |
G |
A |
14: 65,878,731 (GRCm39) |
R667K |
probably benign |
Het |
| Oprl1 |
T |
A |
2: 181,360,717 (GRCm39) |
C231S |
probably damaging |
Het |
| Or11g26 |
T |
C |
14: 50,753,015 (GRCm39) |
F118S |
probably damaging |
Het |
| Or13p10 |
A |
C |
4: 118,523,604 (GRCm39) |
N297H |
probably damaging |
Het |
| Pard3b |
C |
A |
1: 62,676,957 (GRCm39) |
Q1163K |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 116,017,283 (GRCm39) |
Y158C |
probably damaging |
Het |
| Prune2 |
T |
G |
19: 17,098,629 (GRCm39) |
S1378A |
probably benign |
Het |
| Ralgps2 |
G |
T |
1: 156,712,110 (GRCm39) |
T158K |
probably damaging |
Het |
| Rbm42 |
T |
A |
7: 30,344,582 (GRCm39) |
E227V |
unknown |
Het |
| Ripor3 |
T |
C |
2: 167,825,119 (GRCm39) |
R797G |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,492,855 (GRCm39) |
H3764L |
possibly damaging |
Het |
| Sbno2 |
T |
C |
10: 79,900,221 (GRCm39) |
Y541C |
probably damaging |
Het |
| Scn5a |
A |
G |
9: 119,365,030 (GRCm39) |
V396A |
probably damaging |
Het |
| Slc36a3 |
A |
G |
11: 55,039,409 (GRCm39) |
L73P |
probably damaging |
Het |
| Spag16 |
T |
C |
1: 69,934,407 (GRCm39) |
I278T |
probably benign |
Het |
| Stx18 |
T |
A |
5: 38,285,450 (GRCm39) |
L274* |
probably null |
Het |
| Timm29 |
A |
G |
9: 21,505,001 (GRCm39) |
Y223C |
probably damaging |
Het |
| Tmprss2 |
T |
A |
16: 97,369,665 (GRCm39) |
M370L |
probably benign |
Het |
| Tmtc3 |
T |
A |
10: 100,283,296 (GRCm39) |
N753I |
probably damaging |
Het |
| Tnpo3 |
A |
T |
6: 29,558,832 (GRCm39) |
C699* |
probably null |
Het |
| Trav5d-4 |
G |
A |
14: 53,239,208 (GRCm39) |
W13* |
probably null |
Het |
| Trdn |
A |
G |
10: 33,320,074 (GRCm39) |
|
probably null |
Het |
| Tsg101 |
A |
T |
7: 46,558,808 (GRCm39) |
Y68N |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,664,062 (GRCm39) |
V11649A |
unknown |
Het |
| Wnk2 |
A |
T |
13: 49,248,914 (GRCm39) |
V379D |
probably damaging |
Het |
| Xpnpep1 |
A |
G |
19: 52,990,903 (GRCm39) |
|
probably null |
Het |
| Yme1l1 |
C |
T |
2: 23,054,597 (GRCm39) |
Q139* |
probably null |
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 |
|
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 |
|
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'- TGTGTCACTATGTCTGACAGC -3'
(R):5'- AGAATGTGGCTACATGTTAGAAATC -3'
Sequencing Primer
(F):5'- TGTAGATGTCACTGGCCTAAACC -3'
(R):5'- GCGATGAATCATGATCTCA -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation