Incidental Mutation 'R1657:Terb1'
| ID |
186464 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Terb1
|
| Ensembl Gene |
ENSMUSG00000052616 |
| Gene Name |
telomere repeat binding bouquet formation protein 1 |
| Synonyms |
Ccdc79, 4930532D21Rik |
| MMRRC Submission |
039693-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1657 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
104446719-104509910 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104488491 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 284
(D284E)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000064576
AA Change: D284E
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000067324
Gene: ENSMUSG00000052616
AA Change: D284E
| 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
AA Change: D284E
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000124706
Gene: ENSMUSG00000052616
AA Change: D284E
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1qgra_
|
10 |
335 |
6e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161520
AA Change: D284E
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000125431
Gene: ENSMUSG00000052616
AA Change: D284E
| 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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| 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 |
|---|
| 0610009B22Rik |
T |
C |
11: 51,685,678 (GRCm38) |
Q131R |
probably benign |
Het |
| 3632451O06Rik |
G |
C |
14: 49,773,560 (GRCm38) |
T230S |
probably damaging |
Het |
| Acaca |
T |
G |
11: 84,264,084 (GRCm38) |
D988E |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,180,601 (GRCm38) |
V1185A |
probably damaging |
Het |
| Amdhd2 |
A |
G |
17: 24,156,055 (GRCm38) |
V391A |
probably damaging |
Het |
| Caprin1 |
A |
T |
2: 103,769,506 (GRCm38) |
V608E |
probably damaging |
Het |
| Celsr3 |
T |
A |
9: 108,842,952 (GRCm38) |
C2512* |
probably null |
Het |
| Cfl1 |
A |
T |
19: 5,493,555 (GRCm38) |
R187W |
probably damaging |
Het |
| Cgnl1 |
C |
T |
9: 71,725,944 (GRCm38) |
V42I |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,480,430 (GRCm38) |
Y826H |
probably damaging |
Het |
| Col9a2 |
C |
A |
4: 121,040,974 (GRCm38) |
P28T |
unknown |
Het |
| Cyp3a44 |
G |
A |
5: 145,779,743 (GRCm38) |
P346S |
probably damaging |
Het |
| Dact2 |
A |
G |
17: 14,197,990 (GRCm38) |
V151A |
probably benign |
Het |
| Dhx29 |
T |
C |
13: 112,952,843 (GRCm38) |
I716T |
probably damaging |
Het |
| Esam |
T |
C |
9: 37,537,621 (GRCm38) |
S342P |
probably damaging |
Het |
| Fam189a2 |
C |
A |
19: 23,975,635 (GRCm38) |
C437F |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 156,035,598 (GRCm38) |
V1053A |
possibly damaging |
Het |
| Grk3 |
A |
G |
5: 112,966,982 (GRCm38) |
F124S |
probably damaging |
Het |
| H2-DMa |
G |
A |
17: 34,137,399 (GRCm38) |
|
probably null |
Het |
| Hsd3b5 |
T |
A |
3: 98,619,720 (GRCm38) |
I137F |
possibly damaging |
Het |
| Itgav |
A |
T |
2: 83,801,779 (GRCm38) |
I902F |
probably benign |
Het |
| Itsn1 |
G |
T |
16: 91,909,223 (GRCm38) |
C179F |
probably damaging |
Het |
| Kcnh8 |
G |
A |
17: 52,839,125 (GRCm38) |
R347H |
probably damaging |
Het |
| Kif9 |
T |
C |
9: 110,489,966 (GRCm38) |
M166T |
possibly damaging |
Het |
| Kmt5c |
C |
T |
7: 4,746,454 (GRCm38) |
Q324* |
probably null |
Het |
| Lcn9 |
G |
A |
2: 25,824,710 (GRCm38) |
E154K |
probably benign |
Het |
| Mfge8 |
A |
T |
7: 79,141,773 (GRCm38) |
L227Q |
probably benign |
Het |
| Mroh2b |
A |
T |
15: 4,931,043 (GRCm38) |
R753* |
probably null |
Het |
| Mtif2 |
G |
A |
11: 29,540,721 (GRCm38) |
R475Q |
probably benign |
Het |
| Nln |
C |
T |
13: 104,036,947 (GRCm38) |
V584I |
possibly damaging |
Het |
| Nr2e3 |
T |
C |
9: 59,948,767 (GRCm38) |
E129G |
probably benign |
Het |
| Ocstamp |
T |
C |
2: 165,397,516 (GRCm38) |
D250G |
probably damaging |
Het |
| Olfr1065 |
A |
C |
2: 86,445,218 (GRCm38) |
L255V |
probably damaging |
Het |
| Olfr403 |
A |
T |
11: 74,195,896 (GRCm38) |
H131L |
probably damaging |
Het |
| Olfr503 |
T |
C |
7: 108,545,377 (GRCm38) |
I284T |
possibly damaging |
Het |
| Pld1 |
A |
T |
3: 28,071,187 (GRCm38) |
I417L |
probably benign |
Het |
| Polr1a |
A |
T |
6: 71,941,535 (GRCm38) |
K692N |
probably damaging |
Het |
| Qsox2 |
A |
T |
2: 26,220,747 (GRCm38) |
Y152* |
probably null |
Het |
| Rpap1 |
T |
C |
2: 119,783,778 (GRCm38) |
D46G |
possibly damaging |
Het |
| Rpe65 |
A |
G |
3: 159,614,448 (GRCm38) |
T246A |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,562,380 (GRCm38) |
D82G |
probably damaging |
Het |
| Sema3d |
A |
G |
5: 12,584,974 (GRCm38) |
E669G |
possibly damaging |
Het |
| Serpinb6c |
T |
C |
13: 33,880,226 (GRCm38) |
N282S |
probably benign |
Het |
| Snap47 |
A |
T |
11: 59,428,770 (GRCm38) |
S181T |
probably benign |
Het |
| Snx9 |
A |
C |
17: 5,918,436 (GRCm38) |
T336P |
possibly damaging |
Het |
| Sphkap |
G |
A |
1: 83,277,515 (GRCm38) |
R838* |
probably null |
Het |
| Tmem266 |
C |
T |
9: 55,418,008 (GRCm38) |
A153V |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,742,804 (GRCm38) |
E25915G |
possibly damaging |
Het |
| Tubal3 |
A |
G |
13: 3,933,011 (GRCm38) |
T264A |
possibly damaging |
Het |
| Vldlr |
G |
A |
19: 27,245,670 (GRCm38) |
R747Q |
probably benign |
Het |
| Zc3h8 |
G |
T |
2: 128,929,957 (GRCm38) |
|
probably benign |
Het |
| Zfp184 |
C |
T |
13: 21,959,273 (GRCm38) |
T383M |
probably damaging |
Het |
| Zfp455 |
T |
C |
13: 67,198,639 (GRCm38) |
F38S |
possibly damaging |
Het |
| Zfp746 |
A |
G |
6: 48,082,174 (GRCm38) |
V167A |
possibly damaging |
Het |
| Zfp985 |
T |
A |
4: 147,584,110 (GRCm38) |
N478K |
probably benign |
Het |
|
| Other mutations in Terb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00787:Terb1
|
APN |
8 |
104,451,807 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL01468:Terb1
|
APN |
8 |
104,482,167 (GRCm38) |
intron |
probably benign |
|
|
IGL01619:Terb1
|
APN |
8 |
104,473,014 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01631:Terb1
|
APN |
8 |
104,472,864 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02041:Terb1
|
APN |
8 |
104,495,114 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02413:Terb1
|
APN |
8 |
104,494,868 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02974:Terb1
|
APN |
8 |
104,494,968 (GRCm38) |
nonsense |
probably null |
|
|
IGL03091:Terb1
|
APN |
8 |
104,469,154 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL03410:Terb1
|
APN |
8 |
104,473,042 (GRCm38) |
splice site |
probably benign |
|
|
R0825:Terb1
|
UTSW |
8 |
104,468,748 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R0906:Terb1
|
UTSW |
8 |
104,452,636 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1175:Terb1
|
UTSW |
8 |
104,484,306 (GRCm38) |
missense |
probably benign |
0.07 |
|
R1494:Terb1
|
UTSW |
8 |
104,498,490 (GRCm38) |
splice site |
probably benign |
|
|
R2018:Terb1
|
UTSW |
8 |
104,452,699 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2029:Terb1
|
UTSW |
8 |
104,498,100 (GRCm38) |
splice site |
probably benign |
|
|
R2047:Terb1
|
UTSW |
8 |
104,485,462 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2062:Terb1
|
UTSW |
8 |
104,468,748 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R2179:Terb1
|
UTSW |
8 |
104,472,737 (GRCm38) |
missense |
probably benign |
0.08 |
|
R2179:Terb1
|
UTSW |
8 |
104,452,715 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2187:Terb1
|
UTSW |
8 |
104,472,884 (GRCm38) |
missense |
probably benign |
|
|
R2420:Terb1
|
UTSW |
8 |
104,498,595 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2867:Terb1
|
UTSW |
8 |
104,447,853 (GRCm38) |
unclassified |
probably benign |
|
|
R3749:Terb1
|
UTSW |
8 |
104,496,834 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4850:Terb1
|
UTSW |
8 |
104,485,425 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4930:Terb1
|
UTSW |
8 |
104,447,948 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4963:Terb1
|
UTSW |
8 |
104,482,318 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4969:Terb1
|
UTSW |
8 |
104,495,163 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5100:Terb1
|
UTSW |
8 |
104,495,173 (GRCm38) |
nonsense |
probably null |
|
|
R5440:Terb1
|
UTSW |
8 |
104,488,499 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5824:Terb1
|
UTSW |
8 |
104,485,447 (GRCm38) |
missense |
probably benign |
0.08 |
|
R5950:Terb1
|
UTSW |
8 |
104,488,485 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5985:Terb1
|
UTSW |
8 |
104,482,316 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5985:Terb1
|
UTSW |
8 |
104,451,807 (GRCm38) |
missense |
probably benign |
0.09 |
|
R6320:Terb1
|
UTSW |
8 |
104,447,199 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6432:Terb1
|
UTSW |
8 |
104,485,446 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R6473:Terb1
|
UTSW |
8 |
104,473,037 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6701:Terb1
|
UTSW |
8 |
104,472,756 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R7013:Terb1
|
UTSW |
8 |
104,488,590 (GRCm38) |
nonsense |
probably null |
|
|
R7064:Terb1
|
UTSW |
8 |
104,488,554 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7237:Terb1
|
UTSW |
8 |
104,495,327 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R7361:Terb1
|
UTSW |
8 |
104,468,799 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7549:Terb1
|
UTSW |
8 |
104,498,084 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R7915:Terb1
|
UTSW |
8 |
104,447,216 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R8112:Terb1
|
UTSW |
8 |
104,468,767 (GRCm38) |
missense |
probably benign |
0.32 |
|
R8256:Terb1
|
UTSW |
8 |
104,472,947 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8329:Terb1
|
UTSW |
8 |
104,484,371 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8807:Terb1
|
UTSW |
8 |
104,469,109 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8953:Terb1
|
UTSW |
8 |
104,468,799 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8984:Terb1
|
UTSW |
8 |
104,485,404 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9614:Terb1
|
UTSW |
8 |
104,496,844 (GRCm38) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGGGTCCATAGCAGGCACCA -3'
(R):5'- GCACACGCTCAGAACTGCTTTGT -3'
Sequencing Primer
(F):5'- cccacccactcccacttc -3'
(R):5'- AGAACTGCTTTGTCTCTTCGG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation