Incidental Mutation 'R0028:Tectb'
ID |
15419 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tectb
|
Ensembl Gene |
ENSMUSG00000024979 |
Gene Name |
tectorin beta |
Synonyms |
Tctnb, [b]-tectorin |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R0028 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
55169165-55184745 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 55183109 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 330
(I330T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113805
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025936]
[ENSMUST00000069183]
[ENSMUST00000120936]
|
AlphaFold |
O08524 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025936
AA Change: I320T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000025936 Gene: ENSMUSG00000024979 AA Change: I320T
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
ZP
|
31 |
283 |
3.47e-50 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000069183
|
SMART Domains |
Protein: ENSMUSP00000068253 Gene: ENSMUSG00000055523
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
38 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
65 |
416 |
5.2e-36 |
PFAM |
low complexity region
|
471 |
487 |
N/A |
INTRINSIC |
Pfam:Pkinase
|
574 |
826 |
2e-26 |
PFAM |
Pfam:Pkinase_Tyr
|
577 |
826 |
6e-35 |
PFAM |
CYCc
|
865 |
1059 |
6.42e-96 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120936
AA Change: I330T
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000113805 Gene: ENSMUSG00000024979 AA Change: I330T
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
ZP
|
31 |
293 |
1.9e-47 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123763
|
Predicted Effect |
unknown
Transcript: ENSMUST00000124545
AA Change: I171T
|
SMART Domains |
Protein: ENSMUSP00000117645 Gene: ENSMUSG00000024979 AA Change: I171T
Domain | Start | End | E-Value | Type |
Pfam:Zona_pellucida
|
3 |
116 |
5.9e-27 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148123
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184990
|
Meta Mutation Damage Score |
0.1066 |
Coding Region Coverage |
- 1x: 80.7%
- 3x: 72.7%
- 10x: 50.3%
- 20x: 30.1%
|
Validation Efficiency |
96% (74/77) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a non-collagenous glycoprotein component of the tectorial membrane, which covers the auditory hair cells in the cochlea of the inner ear. A similar protein in mouse functions in low-frequency hearing. [provided by RefSeq, Jul 2013] PHENOTYPE: Homozygotes for a null allele show an enlarged tectorial membrane with a disrupted striated-sheet matrix, absence of the marginal band, and low-frequency hearing loss. However, basilar-membrane and neural tuning are both enhanced in high-frequency cochlear regions, with little loss in sensitivity. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
C |
17: 24,596,698 (GRCm39) |
F384L |
probably benign |
Het |
AC159748.1 |
T |
C |
10: 5,542,006 (GRCm38) |
|
silent |
Het |
Adamts12 |
C |
T |
15: 11,215,710 (GRCm39) |
R244C |
probably damaging |
Het |
Bms1 |
T |
C |
6: 118,393,480 (GRCm39) |
I131V |
probably benign |
Het |
Ccdc107 |
A |
G |
4: 43,495,549 (GRCm39) |
T151A |
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Col4a4 |
A |
G |
1: 82,465,231 (GRCm39) |
|
probably null |
Het |
Creb1 |
A |
G |
1: 64,609,307 (GRCm39) |
D126G |
probably damaging |
Het |
Ddb1 |
T |
A |
19: 10,596,610 (GRCm39) |
V443E |
probably damaging |
Het |
Dnmt3a |
T |
A |
12: 3,950,337 (GRCm39) |
S634T |
probably damaging |
Het |
Fras1 |
A |
C |
5: 96,825,175 (GRCm39) |
N1455T |
probably benign |
Het |
Fyb1 |
A |
G |
15: 6,674,395 (GRCm39) |
|
probably benign |
Het |
Gpr141 |
C |
T |
13: 19,936,599 (GRCm39) |
V59M |
probably damaging |
Het |
Ikbke |
T |
C |
1: 131,199,921 (GRCm39) |
I222V |
possibly damaging |
Het |
Macf1 |
A |
T |
4: 123,275,895 (GRCm39) |
H6222Q |
probably damaging |
Het |
Mapk8ip3 |
C |
T |
17: 25,123,871 (GRCm39) |
|
probably benign |
Het |
Phactr1 |
A |
T |
13: 43,210,655 (GRCm39) |
D74V |
probably damaging |
Het |
Prickle2 |
T |
C |
6: 92,399,323 (GRCm39) |
I185V |
probably benign |
Het |
Rnasel |
A |
T |
1: 153,630,465 (GRCm39) |
D327V |
probably benign |
Het |
Slc25a13 |
T |
C |
6: 6,181,047 (GRCm39) |
N46D |
probably benign |
Het |
Slc28a2 |
T |
A |
2: 122,282,083 (GRCm39) |
F261L |
probably damaging |
Het |
Slc6a15 |
A |
T |
10: 103,252,541 (GRCm39) |
Y568F |
probably benign |
Het |
Slc7a1 |
A |
G |
5: 148,272,321 (GRCm39) |
V452A |
probably benign |
Het |
Tmem92 |
C |
T |
11: 94,669,778 (GRCm39) |
V118I |
possibly damaging |
Het |
Tmf1 |
T |
C |
6: 97,135,059 (GRCm39) |
E985G |
probably damaging |
Het |
Traf5 |
T |
A |
1: 191,758,421 (GRCm39) |
|
probably benign |
Het |
Trip11 |
T |
C |
12: 101,851,016 (GRCm39) |
E731G |
probably damaging |
Het |
Unc5a |
A |
G |
13: 55,151,726 (GRCm39) |
S50G |
possibly damaging |
Het |
Wrnip1 |
T |
C |
13: 33,004,280 (GRCm39) |
L517P |
probably damaging |
Het |
Zfp202 |
T |
A |
9: 40,123,048 (GRCm39) |
H603Q |
probably damaging |
Het |
|
Other mutations in Tectb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01754:Tectb
|
APN |
19 |
55,172,445 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02001:Tectb
|
APN |
19 |
55,178,027 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL02510:Tectb
|
APN |
19 |
55,179,943 (GRCm39) |
missense |
probably damaging |
1.00 |
BB010:Tectb
|
UTSW |
19 |
55,183,105 (GRCm39) |
missense |
possibly damaging |
0.87 |
BB020:Tectb
|
UTSW |
19 |
55,183,105 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0130:Tectb
|
UTSW |
19 |
55,170,393 (GRCm39) |
missense |
probably damaging |
0.99 |
R0586:Tectb
|
UTSW |
19 |
55,170,356 (GRCm39) |
missense |
probably damaging |
1.00 |
R0598:Tectb
|
UTSW |
19 |
55,178,018 (GRCm39) |
nonsense |
probably null |
|
R0655:Tectb
|
UTSW |
19 |
55,178,302 (GRCm39) |
missense |
possibly damaging |
0.78 |
R0708:Tectb
|
UTSW |
19 |
55,179,984 (GRCm39) |
missense |
probably benign |
0.37 |
R1314:Tectb
|
UTSW |
19 |
55,172,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R1999:Tectb
|
UTSW |
19 |
55,169,431 (GRCm39) |
start gained |
probably benign |
|
R2000:Tectb
|
UTSW |
19 |
55,169,431 (GRCm39) |
start gained |
probably benign |
|
R2024:Tectb
|
UTSW |
19 |
55,170,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R2148:Tectb
|
UTSW |
19 |
55,169,431 (GRCm39) |
start gained |
probably benign |
|
R2159:Tectb
|
UTSW |
19 |
55,169,431 (GRCm39) |
start gained |
probably benign |
|
R2160:Tectb
|
UTSW |
19 |
55,169,431 (GRCm39) |
start gained |
probably benign |
|
R2161:Tectb
|
UTSW |
19 |
55,169,431 (GRCm39) |
start gained |
probably benign |
|
R2162:Tectb
|
UTSW |
19 |
55,169,431 (GRCm39) |
start gained |
probably benign |
|
R2355:Tectb
|
UTSW |
19 |
55,169,431 (GRCm39) |
start gained |
probably benign |
|
R2358:Tectb
|
UTSW |
19 |
55,169,431 (GRCm39) |
start gained |
probably benign |
|
R2495:Tectb
|
UTSW |
19 |
55,169,431 (GRCm39) |
start gained |
probably benign |
|
R2497:Tectb
|
UTSW |
19 |
55,169,431 (GRCm39) |
start gained |
probably benign |
|
R2511:Tectb
|
UTSW |
19 |
55,169,431 (GRCm39) |
start gained |
probably benign |
|
R2568:Tectb
|
UTSW |
19 |
55,169,431 (GRCm39) |
start gained |
probably benign |
|
R2570:Tectb
|
UTSW |
19 |
55,169,431 (GRCm39) |
start gained |
probably benign |
|
R2848:Tectb
|
UTSW |
19 |
55,169,431 (GRCm39) |
start gained |
probably benign |
|
R2897:Tectb
|
UTSW |
19 |
55,169,431 (GRCm39) |
start gained |
probably benign |
|
R2898:Tectb
|
UTSW |
19 |
55,169,431 (GRCm39) |
start gained |
probably benign |
|
R3712:Tectb
|
UTSW |
19 |
55,169,431 (GRCm39) |
start gained |
probably benign |
|
R5671:Tectb
|
UTSW |
19 |
55,181,059 (GRCm39) |
missense |
probably benign |
0.42 |
R5875:Tectb
|
UTSW |
19 |
55,178,058 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6312:Tectb
|
UTSW |
19 |
55,181,094 (GRCm39) |
frame shift |
probably null |
|
R6315:Tectb
|
UTSW |
19 |
55,179,904 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6366:Tectb
|
UTSW |
19 |
55,170,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R7729:Tectb
|
UTSW |
19 |
55,181,104 (GRCm39) |
missense |
|
|
R7933:Tectb
|
UTSW |
19 |
55,183,105 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8408:Tectb
|
UTSW |
19 |
55,178,099 (GRCm39) |
critical splice donor site |
probably null |
|
R8557:Tectb
|
UTSW |
19 |
55,181,105 (GRCm39) |
unclassified |
probably benign |
|
R8835:Tectb
|
UTSW |
19 |
55,172,270 (GRCm39) |
missense |
probably benign |
0.43 |
R8918:Tectb
|
UTSW |
19 |
55,180,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R8935:Tectb
|
UTSW |
19 |
55,183,132 (GRCm39) |
missense |
probably benign |
|
R9239:Tectb
|
UTSW |
19 |
55,181,094 (GRCm39) |
frame shift |
probably null |
|
R9345:Tectb
|
UTSW |
19 |
55,183,097 (GRCm39) |
missense |
probably benign |
0.00 |
R9467:Tectb
|
UTSW |
19 |
55,181,093 (GRCm39) |
missense |
|
|
|
Posted On |
2012-12-21 |