Incidental Mutation 'R6312:Tectb'
| ID |
509851 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tectb
|
| Ensembl Gene |
ENSMUSG00000024979 |
| Gene Name |
tectorin beta |
| Synonyms |
Tctnb, [b]-tectorin |
| MMRRC Submission |
044415-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R6312 (G1)
|
| Quality Score |
214.458 |
|
Status
|
Not 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 |
Homozygous |
| 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: 99.4%
- 20x: 98.1%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
A |
G |
12: 72,936,541 (GRCm39) |
S472P |
possibly damaging |
Het |
| Aadacl4fm1 |
A |
T |
4: 144,255,072 (GRCm39) |
H164L |
probably benign |
Het |
| Abraxas2 |
G |
A |
7: 132,476,694 (GRCm39) |
A145T |
probably damaging |
Het |
| AC153874.1 |
T |
A |
10: 77,682,961 (GRCm39) |
|
probably benign |
Het |
| Acadvl |
T |
A |
11: 69,902,593 (GRCm39) |
M375L |
probably damaging |
Het |
| Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
| Arl4d |
T |
C |
11: 101,558,079 (GRCm39) |
*202R |
probably null |
Het |
| B3gat2 |
G |
T |
1: 23,854,548 (GRCm39) |
E83* |
probably null |
Het |
| Bmper |
C |
A |
9: 23,318,087 (GRCm39) |
Q569K |
possibly damaging |
Het |
| C2cd4d |
C |
A |
3: 94,271,742 (GRCm39) |
P336H |
probably damaging |
Het |
| Cct2 |
A |
T |
10: 116,891,960 (GRCm39) |
S363T |
probably benign |
Het |
| Cers5 |
A |
G |
15: 99,644,996 (GRCm39) |
V119A |
probably benign |
Het |
| Cfhr2 |
C |
T |
1: 139,758,817 (GRCm39) |
V78I |
possibly damaging |
Het |
| Crocc2 |
A |
T |
1: 93,143,432 (GRCm39) |
K1345* |
probably null |
Het |
| Cyp4f39 |
T |
C |
17: 32,702,268 (GRCm39) |
M255T |
probably benign |
Het |
| Dpp6 |
A |
T |
5: 27,930,669 (GRCm39) |
I834F |
possibly damaging |
Het |
| Dpy19l4 |
T |
A |
4: 11,289,671 (GRCm39) |
K205* |
probably null |
Het |
| Epg5 |
T |
A |
18: 78,022,426 (GRCm39) |
D1056E |
possibly damaging |
Het |
| Fam20a |
A |
C |
11: 109,565,456 (GRCm39) |
C452G |
probably damaging |
Het |
| Gnai2 |
A |
T |
9: 107,512,316 (GRCm39) |
V34E |
probably damaging |
Het |
| Gng3 |
A |
G |
19: 8,815,997 (GRCm39) |
V7A |
probably benign |
Het |
| Hdc |
A |
G |
2: 126,449,326 (GRCm39) |
V77A |
possibly damaging |
Het |
| Hint1 |
G |
A |
11: 54,760,816 (GRCm39) |
C85Y |
probably benign |
Het |
| Kif17 |
C |
T |
4: 138,015,504 (GRCm39) |
S551L |
probably benign |
Het |
| Lgr5 |
A |
G |
10: 115,288,829 (GRCm39) |
L581P |
probably damaging |
Het |
| Lig4 |
G |
T |
8: 10,021,739 (GRCm39) |
N680K |
probably benign |
Het |
| Lipi |
T |
A |
16: 75,370,803 (GRCm39) |
Y138F |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,267,025 (GRCm39) |
G4294E |
probably damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,866,246 (GRCm39) |
M1165T |
probably benign |
Het |
| Mtpap |
T |
C |
18: 4,396,175 (GRCm39) |
I489T |
possibly damaging |
Het |
| Nlrp1b |
T |
A |
11: 71,119,223 (GRCm39) |
N24I |
probably benign |
Het |
| Nlrp4a |
A |
G |
7: 26,148,821 (GRCm39) |
T143A |
probably benign |
Het |
| Nudt2 |
A |
G |
4: 41,480,386 (GRCm39) |
T90A |
probably benign |
Het |
| Or1j20 |
A |
T |
2: 36,760,477 (GRCm39) |
I300L |
probably benign |
Het |
| Or52n20 |
T |
A |
7: 104,320,796 (GRCm39) |
Y296N |
probably damaging |
Het |
| Or8b36 |
GTTT |
GTTTGCTGTTTT |
9: 37,937,842 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
TTT |
TTTGCTGATT |
9: 37,937,843 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
T |
TGCTGTTC |
9: 37,937,845 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
TTGCTGT |
TTGCTGTCTGCTGT |
9: 37,937,837 (GRCm39) |
|
probably null |
Het |
| Or8k53 |
A |
T |
2: 86,177,925 (GRCm39) |
F62I |
probably damaging |
Het |
| Osmr |
A |
G |
15: 6,853,119 (GRCm39) |
V592A |
probably damaging |
Het |
| Rbp2 |
G |
T |
9: 98,372,700 (GRCm39) |
S13I |
probably benign |
Het |
| Rsf1 |
A |
AGGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
| Rusf1 |
T |
C |
7: 127,872,715 (GRCm39) |
K411R |
probably benign |
Het |
| Slc6a7 |
A |
G |
18: 61,135,457 (GRCm39) |
S381P |
probably benign |
Het |
| Slitrk6 |
A |
G |
14: 110,987,679 (GRCm39) |
L676P |
probably benign |
Het |
| Sspo |
T |
C |
6: 48,434,300 (GRCm39) |
|
probably null |
Het |
| Tma16 |
T |
C |
8: 66,934,118 (GRCm39) |
E79G |
probably damaging |
Het |
| Trim14 |
G |
T |
4: 46,507,257 (GRCm39) |
H320N |
probably damaging |
Het |
| Trim63 |
A |
G |
4: 134,053,008 (GRCm39) |
D323G |
probably damaging |
Het |
| Vash2 |
C |
A |
1: 190,690,880 (GRCm39) |
R309L |
probably benign |
Het |
| Vmn1r62 |
G |
A |
7: 5,679,083 (GRCm39) |
V255M |
possibly damaging |
Het |
| Vmn2r53 |
T |
A |
7: 12,332,566 (GRCm39) |
|
probably null |
Het |
| Zfp382 |
G |
A |
7: 29,833,963 (GRCm39) |
R538H |
probably damaging |
Het |
| Zfp592 |
T |
A |
7: 80,673,184 (GRCm39) |
D49E |
probably benign |
Het |
| Zfp60 |
T |
C |
7: 27,448,201 (GRCm39) |
C290R |
probably damaging |
Het |
| Zfp69 |
G |
A |
4: 120,806,714 (GRCm39) |
|
probably benign |
Het |
| Zfp790 |
G |
T |
7: 29,527,647 (GRCm39) |
G111W |
probably damaging |
Het |
| Zfp948 |
T |
C |
17: 21,807,429 (GRCm39) |
I207T |
possibly 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 |
|
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'- AGCGACTGGACGACTTTGAC -3'
(R):5'- TGCACCATCACTTTGGAAGCTC -3'
Sequencing Primer
(F):5'- ACTGGACGACTTTGACTCCTTGAAG -3'
(R):5'- ACTTTGGAAGCTCAGCTCCG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation