Incidental Mutation 'R2495:Tectb'
| ID |
251022 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tectb
|
| Ensembl Gene |
ENSMUSG00000024979 |
| Gene Name |
tectorin beta |
| Synonyms |
Tctnb, [b]-tectorin |
| MMRRC Submission |
040409-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R2495 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
55169165-55184745 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
C to G
at 55169431 bp (GRCm39)
|
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
98% (63/64) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810062G17Rik |
T |
C |
3: 36,536,109 (GRCm39) |
F125S |
unknown |
Het |
| Abhd17c |
C |
T |
7: 83,759,884 (GRCm39) |
W290* |
probably null |
Het |
| Acsl5 |
A |
T |
19: 55,282,031 (GRCm39) |
K536* |
probably null |
Het |
| Adamts14 |
A |
T |
10: 61,034,749 (GRCm39) |
|
probably null |
Het |
| Agbl3 |
A |
G |
6: 34,823,699 (GRCm39) |
H788R |
probably damaging |
Het |
| Agrp |
T |
C |
8: 106,293,408 (GRCm39) |
N126D |
possibly damaging |
Het |
| Ambn |
T |
C |
5: 88,615,663 (GRCm39) |
I349T |
probably benign |
Het |
| Ank1 |
T |
C |
8: 23,622,280 (GRCm39) |
W1610R |
probably damaging |
Het |
| Aox3 |
T |
C |
1: 58,227,567 (GRCm39) |
L1224P |
probably damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,165,881 (GRCm39) |
|
probably benign |
Het |
| Bcl11b |
G |
A |
12: 107,881,706 (GRCm39) |
H798Y |
possibly damaging |
Het |
| Capn11 |
T |
A |
17: 45,949,689 (GRCm39) |
M426L |
probably damaging |
Het |
| Cep95 |
A |
G |
11: 106,700,108 (GRCm39) |
K290E |
possibly damaging |
Het |
| Cic |
A |
G |
7: 24,991,201 (GRCm39) |
|
probably benign |
Het |
| Cnbd1 |
A |
T |
4: 18,860,579 (GRCm39) |
M389K |
probably damaging |
Het |
| Cnksr1 |
A |
T |
4: 133,959,473 (GRCm39) |
L387Q |
probably benign |
Het |
| Cntrob |
G |
T |
11: 69,213,749 (GRCm39) |
P14T |
probably damaging |
Het |
| Crmp1 |
G |
A |
5: 37,403,441 (GRCm39) |
|
probably null |
Het |
| Dido1 |
A |
G |
2: 180,331,181 (GRCm39) |
V89A |
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,645,040 (GRCm39) |
I999F |
probably damaging |
Het |
| Dsp |
T |
A |
13: 38,377,453 (GRCm39) |
L1746Q |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,238,454 (GRCm39) |
S3897P |
probably damaging |
Het |
| Fbxo10 |
A |
G |
4: 45,040,545 (GRCm39) |
F887L |
probably benign |
Het |
| Gm21961 |
T |
A |
15: 64,886,722 (GRCm39) |
H11L |
unknown |
Het |
| Gm4559 |
A |
T |
7: 141,827,557 (GRCm39) |
C182S |
unknown |
Het |
| Golga3 |
T |
A |
5: 110,355,462 (GRCm39) |
S939T |
probably damaging |
Het |
| Got2 |
A |
G |
8: 96,614,918 (GRCm39) |
S6P |
possibly damaging |
Het |
| Gpatch8 |
A |
T |
11: 102,369,307 (GRCm39) |
H1410Q |
probably damaging |
Het |
| Gpx5 |
T |
A |
13: 21,475,610 (GRCm39) |
T39S |
probably benign |
Het |
| Grin2b |
T |
C |
6: 135,710,180 (GRCm39) |
Y1122C |
probably damaging |
Het |
| Gsn |
A |
C |
2: 35,193,205 (GRCm39) |
N538T |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 180,874,705 (GRCm39) |
S1930P |
probably damaging |
Het |
| Krt6b |
A |
T |
15: 101,586,757 (GRCm39) |
F286Y |
probably damaging |
Het |
| Lrriq1 |
G |
A |
10: 103,038,242 (GRCm39) |
R854C |
probably damaging |
Het |
| Mipol1 |
A |
T |
12: 57,507,776 (GRCm39) |
|
probably benign |
Het |
| Mmp19 |
A |
G |
10: 128,626,819 (GRCm39) |
|
probably benign |
Het |
| Msc |
T |
G |
1: 14,825,473 (GRCm39) |
Y167S |
probably benign |
Het |
| Mycbp2 |
T |
G |
14: 103,437,554 (GRCm39) |
K2103Q |
probably damaging |
Het |
| Myh11 |
C |
A |
16: 14,023,421 (GRCm39) |
D1586Y |
probably damaging |
Het |
| Nol6 |
A |
T |
4: 41,118,427 (GRCm39) |
D791E |
probably damaging |
Het |
| Pcm1 |
A |
G |
8: 41,746,616 (GRCm39) |
T1272A |
probably benign |
Het |
| Phgdh |
A |
G |
3: 98,247,105 (GRCm39) |
L15P |
probably damaging |
Het |
| Ptprk |
A |
T |
10: 28,351,074 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
G |
T |
2: 146,203,320 (GRCm39) |
D1091E |
possibly damaging |
Het |
| Rbbp8nl |
C |
A |
2: 179,920,895 (GRCm39) |
K496N |
probably null |
Het |
| Rbm26 |
T |
C |
14: 105,388,748 (GRCm39) |
|
probably benign |
Het |
| Rfx6 |
A |
C |
10: 51,602,771 (GRCm39) |
|
probably benign |
Het |
| Rras |
G |
A |
7: 44,667,488 (GRCm39) |
G17R |
probably damaging |
Het |
| Shisa6 |
G |
A |
11: 66,108,459 (GRCm39) |
P473S |
probably damaging |
Het |
| Slc9a3 |
A |
G |
13: 74,306,822 (GRCm39) |
K316E |
probably damaging |
Het |
| Slco1a7 |
C |
A |
6: 141,711,503 (GRCm39) |
M69I |
probably benign |
Het |
| Spata31d1a |
A |
G |
13: 59,849,807 (GRCm39) |
S774P |
possibly damaging |
Het |
| Spsb4 |
T |
C |
9: 96,877,840 (GRCm39) |
Y161C |
probably damaging |
Het |
| Taf3 |
G |
T |
2: 9,957,644 (GRCm39) |
N174K |
probably damaging |
Het |
| Trnt1 |
T |
A |
6: 106,750,330 (GRCm39) |
V78E |
possibly damaging |
Het |
| Ubox5 |
A |
T |
2: 130,441,441 (GRCm39) |
C415* |
probably null |
Het |
| Ucn2 |
C |
T |
9: 108,815,477 (GRCm39) |
P80S |
possibly damaging |
Het |
| Vmn2r10 |
G |
A |
5: 109,143,961 (GRCm39) |
T663I |
probably damaging |
Het |
| Wdfy1 |
A |
T |
1: 79,685,222 (GRCm39) |
F337L |
probably null |
Het |
| Zfp287 |
A |
T |
11: 62,605,459 (GRCm39) |
C483S |
probably damaging |
Het |
| Zyg11b |
A |
G |
4: 108,101,921 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCATCACCGAGCTCTCTTG -3'
(R):5'- AAGTCTGATTGGCACTGGG -3'
Sequencing Primer
(F):5'- TCACCGAGCTCTCTTGGAAAC -3'
(R):5'- GCACTGGGGACTTCTGTTCC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation