Incidental Mutation 'R9239:Tectb'
| ID |
700659 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tectb
|
| Ensembl Gene |
ENSMUSG00000024979 |
| Gene Name |
tectorin beta |
| Synonyms |
Tctnb, [b]-tectorin |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R9239 (G1)
|
| Quality Score |
214.458 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
55169165-55184745 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
CT to C
at 55181094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025936]
[ENSMUST00000120936]
[ENSMUST00000154886]
|
| AlphaFold |
O08524 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025936
|
| SMART Domains |
Protein: ENSMUSP00000025936
Gene: ENSMUSG00000024979
| 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: ENSMUST00000120936
|
| SMART Domains |
Protein: ENSMUSP00000113805
Gene: ENSMUSG00000024979
| 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 |
probably null
Transcript: ENSMUST00000124545
|
| SMART Domains |
Protein: ENSMUSP00000117645
Gene: ENSMUSG00000024979
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Zona_pellucida
|
3 |
116 |
5.9e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148123
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154886
|
| SMART Domains |
Protein: ENSMUSP00000121767
Gene: ENSMUSG00000024979
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
ZP
|
31 |
196 |
6.19e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184990
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
100% (44/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot8 |
A |
G |
2: 164,646,608 (GRCm39) |
|
probably null |
Het |
| Aldh1l2 |
A |
G |
10: 83,342,496 (GRCm39) |
F438S |
probably damaging |
Het |
| Alk |
T |
A |
17: 72,256,864 (GRCm39) |
N665I |
probably benign |
Het |
| Anxa4 |
T |
A |
6: 86,734,812 (GRCm39) |
T59S |
probably benign |
Het |
| B3gnt8 |
ACCCC |
ACCC |
7: 25,327,676 (GRCm39) |
|
probably null |
Het |
| Cabs1 |
G |
A |
5: 88,127,385 (GRCm39) |
R12Q |
probably benign |
Het |
| Cep152 |
A |
G |
2: 125,425,830 (GRCm39) |
V845A |
probably benign |
Het |
| Dipk1a |
T |
C |
5: 108,059,572 (GRCm39) |
E127G |
possibly damaging |
Het |
| Dsg1a |
T |
A |
18: 20,473,750 (GRCm39) |
V941E |
probably damaging |
Het |
| Fbxo11 |
G |
T |
17: 88,316,522 (GRCm39) |
H284N |
|
Het |
| Fubp1 |
A |
G |
3: 151,923,486 (GRCm39) |
E98G |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,626,637 (GRCm39) |
I1358T |
probably damaging |
Het |
| Ginm1 |
T |
C |
10: 7,649,825 (GRCm39) |
N156S |
possibly damaging |
Het |
| Gm3739 |
T |
C |
14: 18,505,221 (GRCm39) |
Y101C |
probably damaging |
Het |
| Ide |
T |
C |
19: 37,307,898 (GRCm39) |
N38S |
|
Het |
| Itgb4 |
T |
C |
11: 115,898,130 (GRCm39) |
V1644A |
probably damaging |
Het |
| Itpka |
A |
G |
2: 119,580,023 (GRCm39) |
D254G |
probably damaging |
Het |
| Kat7 |
T |
A |
11: 95,197,020 (GRCm39) |
R6S |
probably benign |
Het |
| Klhl40 |
A |
T |
9: 121,607,637 (GRCm39) |
T266S |
probably benign |
Het |
| Lratd1 |
A |
G |
12: 14,200,185 (GRCm39) |
W181R |
probably damaging |
Het |
| Mmaa |
T |
C |
8: 79,995,856 (GRCm39) |
D289G |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,353,954 (GRCm39) |
D851V |
probably damaging |
Het |
| Or1e29 |
A |
G |
11: 73,667,346 (GRCm39) |
V269A |
probably benign |
Het |
| Or52n4 |
G |
T |
7: 104,293,746 (GRCm39) |
H278N |
probably damaging |
Het |
| Or6b3 |
T |
C |
1: 92,439,454 (GRCm39) |
T99A |
probably benign |
Het |
| Pcdh17 |
T |
G |
14: 84,770,649 (GRCm39) |
I1042M |
probably benign |
Het |
| Pipox |
A |
G |
11: 77,774,765 (GRCm39) |
I106T |
probably benign |
Het |
| Ppcs |
C |
T |
4: 119,276,235 (GRCm39) |
V290M |
possibly damaging |
Het |
| Rnasel |
T |
A |
1: 153,630,097 (GRCm39) |
N204K |
probably damaging |
Het |
| Runx1 |
A |
G |
16: 92,402,935 (GRCm39) |
Y336H |
probably damaging |
Het |
| Sell |
A |
G |
1: 163,893,176 (GRCm39) |
I131V |
possibly damaging |
Het |
| Serpina3f |
A |
G |
12: 104,184,710 (GRCm39) |
R285G |
possibly damaging |
Het |
| Slc25a2 |
A |
T |
18: 37,771,169 (GRCm39) |
M120K |
possibly damaging |
Het |
| Slc47a1 |
A |
T |
11: 61,250,344 (GRCm39) |
|
probably null |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Spats2l |
A |
G |
1: 57,871,257 (GRCm39) |
|
probably benign |
Het |
| Spopfm1 |
T |
A |
3: 94,173,871 (GRCm39) |
V289E |
probably benign |
Het |
| Taf1b |
T |
A |
12: 24,606,015 (GRCm39) |
L431H |
probably damaging |
Het |
| Thsd7b |
G |
A |
1: 130,087,453 (GRCm39) |
|
probably null |
Het |
| Tmtc4 |
A |
G |
14: 123,165,078 (GRCm39) |
Y594H |
possibly damaging |
Het |
| Trim33 |
T |
C |
3: 103,237,453 (GRCm39) |
F599L |
probably benign |
Het |
| Vcl |
A |
G |
14: 21,072,092 (GRCm39) |
D819G |
probably damaging |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn2r1 |
G |
T |
3: 64,011,959 (GRCm39) |
V607L |
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 |
|
R0028:Tectb
|
UTSW |
19 |
55,183,109 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
|
R9345:Tectb
|
UTSW |
19 |
55,183,097 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9467:Tectb
|
UTSW |
19 |
55,181,093 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTATGTAGCGACTGGACGAC -3'
(R):5'- ATCACTTTGGAAGCTCAGCTC -3'
Sequencing Primer
(F):5'- ACTGGACGACTTTGACTCCTTGAAG -3'
(R):5'- CCTAATGCCTCGGGTGCATTTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation