Incidental Mutation 'R2568:Tectb'
| ID |
254667 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tectb
|
| Ensembl Gene |
ENSMUSG00000024979 |
| Gene Name |
tectorin beta |
| Synonyms |
[b]-tectorin, Tctnb |
| MMRRC Submission |
040427-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R2568 (G1)
|
| Quality Score |
201 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
55180733-55196313 bp(+) (GRCm38) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
C to G
at 55180999 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121767
(fasta)
|
| 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 |
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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410089E03Rik |
T |
C |
15: 8,201,269 (GRCm38) |
V1010A |
possibly damaging |
Het |
| 4930563D23Rik |
A |
G |
16: 92,321,319 (GRCm38) |
L27P |
probably damaging |
Het |
| A730071L15Rik |
A |
T |
11: 6,200,161 (GRCm38) |
|
probably benign |
Het |
| Abca13 |
A |
T |
11: 9,333,310 (GRCm38) |
N3244I |
probably benign |
Het |
| Adgrf5 |
A |
G |
17: 43,437,671 (GRCm38) |
T219A |
probably damaging |
Het |
| Adgrg5 |
A |
T |
8: 94,934,021 (GRCm38) |
N92I |
probably damaging |
Het |
| Agt |
A |
C |
8: 124,556,955 (GRCm38) |
V475G |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 52,887,278 (GRCm38) |
K518E |
possibly damaging |
Het |
| Apoh |
T |
G |
11: 108,404,871 (GRCm38) |
D133E |
probably benign |
Het |
| Axdnd1 |
T |
A |
1: 156,392,749 (GRCm38) |
M234L |
possibly damaging |
Het |
| Cacna1d |
A |
G |
14: 30,082,511 (GRCm38) |
I1335T |
probably damaging |
Het |
| Cdh15 |
G |
A |
8: 122,862,024 (GRCm38) |
R279Q |
probably damaging |
Het |
| Cfap206 |
T |
A |
4: 34,711,566 (GRCm38) |
K444* |
probably null |
Het |
| Clasp2 |
A |
G |
9: 113,878,764 (GRCm38) |
I614M |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 106,063,076 (GRCm38) |
D1218E |
possibly damaging |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,741,236 (GRCm38) |
|
probably null |
Het |
| D130043K22Rik |
C |
T |
13: 24,883,891 (GRCm38) |
T870M |
probably damaging |
Het |
| Dagla |
C |
A |
19: 10,248,152 (GRCm38) |
A883S |
probably benign |
Het |
| Dhx30 |
A |
G |
9: 110,097,195 (GRCm38) |
V87A |
probably damaging |
Het |
| Dtx1 |
C |
A |
5: 120,710,184 (GRCm38) |
V44L |
possibly damaging |
Het |
| Ecm2 |
T |
A |
13: 49,530,129 (GRCm38) |
S528T |
possibly damaging |
Het |
| Egfem1 |
A |
T |
3: 29,582,931 (GRCm38) |
N172I |
probably damaging |
Het |
| Fam102b |
T |
A |
3: 108,978,848 (GRCm38) |
N356I |
probably benign |
Het |
| Fam13a |
T |
G |
6: 58,935,609 (GRCm38) |
R686S |
probably damaging |
Het |
| Fmo1 |
T |
A |
1: 162,836,259 (GRCm38) |
I234L |
probably benign |
Het |
| Foxj2 |
C |
T |
6: 122,828,372 (GRCm38) |
R68W |
probably damaging |
Het |
| Foxo6 |
A |
T |
4: 120,268,764 (GRCm38) |
M278K |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,990,431 (GRCm38) |
S5503G |
probably benign |
Het |
| Gdf5 |
C |
G |
2: 155,942,090 (GRCm38) |
R100G |
probably benign |
Het |
| Il1b |
A |
T |
2: 129,367,322 (GRCm38) |
D129E |
probably damaging |
Het |
| Klhl29 |
A |
G |
12: 5,091,350 (GRCm38) |
S545P |
probably damaging |
Het |
| Krt83 |
G |
T |
15: 101,487,827 (GRCm38) |
R296S |
possibly damaging |
Het |
| Llgl1 |
T |
G |
11: 60,708,812 (GRCm38) |
S509R |
probably damaging |
Het |
| Lmod1 |
A |
T |
1: 135,363,964 (GRCm38) |
K186* |
probably null |
Het |
| Lrpprc |
C |
T |
17: 84,726,649 (GRCm38) |
A973T |
probably damaging |
Het |
| Marco |
T |
C |
1: 120,494,785 (GRCm38) |
H49R |
possibly damaging |
Het |
| Mylk4 |
T |
C |
13: 32,722,018 (GRCm38) |
N394S |
probably null |
Het |
| Myo5a |
T |
C |
9: 75,151,897 (GRCm38) |
V469A |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,123,040 (GRCm38) |
Y147C |
probably damaging |
Het |
| Myot |
A |
G |
18: 44,337,216 (GRCm38) |
T87A |
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,597,564 (GRCm38) |
H2154R |
probably damaging |
Het |
| Nek10 |
A |
G |
14: 14,999,112 (GRCm38) |
E1037G |
possibly damaging |
Het |
| Olfr181 |
A |
G |
16: 58,925,923 (GRCm38) |
V216A |
probably benign |
Het |
| Olfr341 |
T |
C |
2: 36,479,974 (GRCm38) |
D52G |
probably damaging |
Het |
| Olfr677 |
A |
G |
7: 105,056,671 (GRCm38) |
T142A |
probably benign |
Het |
| Pitrm1 |
G |
T |
13: 6,575,092 (GRCm38) |
V869F |
probably benign |
Het |
| Plekhm3 |
CCTGCTGCTGCTGCTGCTGCTGCTGC |
CCTGCTGCTGCTGCTGCTGCTGC |
1: 64,937,781 (GRCm38) |
|
probably benign |
Het |
| Prdx1 |
T |
G |
4: 116,693,800 (GRCm38) |
I156S |
probably benign |
Het |
| Rbks |
T |
A |
5: 31,665,752 (GRCm38) |
T107S |
probably damaging |
Het |
| Ryr3 |
G |
A |
2: 112,675,874 (GRCm38) |
R3468W |
probably damaging |
Het |
| Scn1a |
C |
T |
2: 66,273,469 (GRCm38) |
D1805N |
probably damaging |
Het |
| Sirpa |
T |
C |
2: 129,615,648 (GRCm38) |
V214A |
probably benign |
Het |
| Slc35c1 |
T |
C |
2: 92,458,880 (GRCm38) |
N94D |
probably benign |
Het |
| Sorbs2 |
A |
T |
8: 45,795,370 (GRCm38) |
K553* |
probably null |
Het |
| Thg1l |
A |
G |
11: 45,951,565 (GRCm38) |
V142A |
probably benign |
Het |
| Tiparp |
T |
A |
3: 65,553,130 (GRCm38) |
Y513* |
probably null |
Het |
| Tmc6 |
A |
G |
11: 117,772,820 (GRCm38) |
V522A |
probably benign |
Het |
| Trim39 |
T |
A |
17: 36,269,164 (GRCm38) |
|
probably benign |
Het |
| Trrap |
G |
A |
5: 144,843,369 (GRCm38) |
|
probably null |
Het |
| Tulp3 |
C |
T |
6: 128,327,638 (GRCm38) |
V218I |
probably benign |
Het |
| Vmn1r38 |
T |
A |
6: 66,776,971 (GRCm38) |
I54F |
probably benign |
Het |
| Vmn2r23 |
T |
A |
6: 123,742,188 (GRCm38) |
Y833* |
probably null |
Het |
| Zfp810 |
A |
T |
9: 22,279,238 (GRCm38) |
S125T |
probably benign |
Het |
|
| Other mutations in Tectb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01754:Tectb
|
APN |
19 |
55,184,013 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02001:Tectb
|
APN |
19 |
55,189,595 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
IGL02510:Tectb
|
APN |
19 |
55,191,511 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB010:Tectb
|
UTSW |
19 |
55,194,673 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
BB020:Tectb
|
UTSW |
19 |
55,194,673 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R0028:Tectb
|
UTSW |
19 |
55,194,677 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0130:Tectb
|
UTSW |
19 |
55,181,961 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0586:Tectb
|
UTSW |
19 |
55,181,924 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0598:Tectb
|
UTSW |
19 |
55,189,586 (GRCm38) |
nonsense |
probably null |
|
|
R0655:Tectb
|
UTSW |
19 |
55,189,870 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R0708:Tectb
|
UTSW |
19 |
55,191,552 (GRCm38) |
missense |
probably benign |
0.37 |
|
R1314:Tectb
|
UTSW |
19 |
55,183,985 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1999:Tectb
|
UTSW |
19 |
55,180,999 (GRCm38) |
start gained |
probably benign |
|
|
R2000:Tectb
|
UTSW |
19 |
55,180,999 (GRCm38) |
start gained |
probably benign |
|
|
R2024:Tectb
|
UTSW |
19 |
55,181,929 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2148:Tectb
|
UTSW |
19 |
55,180,999 (GRCm38) |
start gained |
probably benign |
|
|
R2159:Tectb
|
UTSW |
19 |
55,180,999 (GRCm38) |
start gained |
probably benign |
|
|
R2160:Tectb
|
UTSW |
19 |
55,180,999 (GRCm38) |
start gained |
probably benign |
|
|
R2161:Tectb
|
UTSW |
19 |
55,180,999 (GRCm38) |
start gained |
probably benign |
|
|
R2162:Tectb
|
UTSW |
19 |
55,180,999 (GRCm38) |
start gained |
probably benign |
|
|
R2355:Tectb
|
UTSW |
19 |
55,180,999 (GRCm38) |
start gained |
probably benign |
|
|
R2358:Tectb
|
UTSW |
19 |
55,180,999 (GRCm38) |
start gained |
probably benign |
|
|
R2495:Tectb
|
UTSW |
19 |
55,180,999 (GRCm38) |
start gained |
probably benign |
|
|
R2497:Tectb
|
UTSW |
19 |
55,180,999 (GRCm38) |
start gained |
probably benign |
|
|
R2511:Tectb
|
UTSW |
19 |
55,180,999 (GRCm38) |
start gained |
probably benign |
|
|
R2570:Tectb
|
UTSW |
19 |
55,180,999 (GRCm38) |
start gained |
probably benign |
|
|
R2848:Tectb
|
UTSW |
19 |
55,180,999 (GRCm38) |
start gained |
probably benign |
|
|
R2897:Tectb
|
UTSW |
19 |
55,180,999 (GRCm38) |
start gained |
probably benign |
|
|
R2898:Tectb
|
UTSW |
19 |
55,180,999 (GRCm38) |
start gained |
probably benign |
|
|
R3712:Tectb
|
UTSW |
19 |
55,180,999 (GRCm38) |
start gained |
probably benign |
|
|
R5671:Tectb
|
UTSW |
19 |
55,192,627 (GRCm38) |
missense |
probably benign |
0.42 |
|
R5875:Tectb
|
UTSW |
19 |
55,189,626 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6312:Tectb
|
UTSW |
19 |
55,192,662 (GRCm38) |
frame shift |
probably null |
|
|
R6315:Tectb
|
UTSW |
19 |
55,191,472 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R6366:Tectb
|
UTSW |
19 |
55,181,918 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7729:Tectb
|
UTSW |
19 |
55,192,672 (GRCm38) |
missense |
|
|
|
R7933:Tectb
|
UTSW |
19 |
55,194,673 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R8408:Tectb
|
UTSW |
19 |
55,189,667 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8557:Tectb
|
UTSW |
19 |
55,192,673 (GRCm38) |
unclassified |
probably benign |
|
|
R8835:Tectb
|
UTSW |
19 |
55,183,838 (GRCm38) |
missense |
probably benign |
0.43 |
|
R8918:Tectb
|
UTSW |
19 |
55,191,568 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8935:Tectb
|
UTSW |
19 |
55,194,700 (GRCm38) |
missense |
probably benign |
|
|
R9239:Tectb
|
UTSW |
19 |
55,192,662 (GRCm38) |
frame shift |
probably null |
|
|
R9345:Tectb
|
UTSW |
19 |
55,194,665 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9467:Tectb
|
UTSW |
19 |
55,192,661 (GRCm38) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCATCACCGAGCTCTCTTG -3'
(R):5'- AAAGTCTGATTGGCACTGGGG -3'
Sequencing Primer
(F):5'- TCACCGAGCTCTCTTGGAAAC -3'
(R):5'- GCACTGGGGACTTCTGTTCC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation