Incidental Mutation 'R1999:Tectb'
ID |
224797 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tectb
|
Ensembl Gene |
ENSMUSG00000024979 |
Gene Name |
tectorin beta |
Synonyms |
Tctnb, [b]-tectorin |
MMRRC Submission |
040009-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R1999 (G1)
|
Quality Score |
117 |
Status
|
Not 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: 98.5%
- 10x: 96.9%
- 20x: 94.0%
|
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 |
Acot1 |
T |
A |
12: 84,056,527 (GRCm39) |
W82R |
probably damaging |
Het |
Adprm |
A |
G |
11: 66,929,055 (GRCm39) |
V312A |
probably benign |
Het |
Ambp |
C |
T |
4: 63,067,666 (GRCm39) |
M181I |
possibly damaging |
Het |
Anln |
A |
G |
9: 22,244,348 (GRCm39) |
*1122Q |
probably null |
Het |
Apc2 |
C |
T |
10: 80,144,994 (GRCm39) |
T635I |
probably damaging |
Het |
Arhgap32 |
A |
G |
9: 32,027,436 (GRCm39) |
E2G |
possibly damaging |
Het |
Bltp1 |
C |
T |
3: 36,962,360 (GRCm39) |
T487I |
probably damaging |
Het |
Ccdc63 |
C |
G |
5: 122,265,628 (GRCm39) |
A71P |
possibly damaging |
Het |
Ceacam5 |
A |
T |
7: 17,481,172 (GRCm39) |
K306N |
possibly damaging |
Het |
Cep295nl |
T |
C |
11: 118,223,915 (GRCm39) |
R310G |
probably damaging |
Het |
Ces2h |
A |
G |
8: 105,746,977 (GRCm39) |
T538A |
probably benign |
Het |
Dab2 |
T |
C |
15: 6,446,398 (GRCm39) |
V5A |
probably benign |
Het |
Diaph3 |
T |
A |
14: 87,222,302 (GRCm39) |
D405V |
possibly damaging |
Het |
Dync1h1 |
T |
C |
12: 110,632,857 (GRCm39) |
|
probably null |
Het |
Epha7 |
C |
T |
4: 28,938,686 (GRCm39) |
Q514* |
probably null |
Het |
Etfb |
C |
T |
7: 43,103,987 (GRCm39) |
L141F |
probably benign |
Het |
Fat1 |
T |
C |
8: 45,405,430 (GRCm39) |
V727A |
probably damaging |
Het |
Flt4 |
T |
C |
11: 49,536,824 (GRCm39) |
Y1265H |
probably benign |
Het |
Fndc3c1 |
C |
T |
X: 105,464,311 (GRCm39) |
E1276K |
probably benign |
Het |
Ghdc |
T |
C |
11: 100,660,018 (GRCm39) |
E243G |
probably benign |
Het |
Gpld1 |
T |
C |
13: 25,146,630 (GRCm39) |
V225A |
probably benign |
Het |
Herc1 |
A |
G |
9: 66,393,360 (GRCm39) |
T4080A |
probably benign |
Het |
Hoxa3 |
A |
C |
6: 52,147,382 (GRCm39) |
Y290* |
probably null |
Het |
Htr5a |
G |
A |
5: 28,055,887 (GRCm39) |
V293M |
possibly damaging |
Het |
Itgb7 |
C |
T |
15: 102,130,553 (GRCm39) |
V378M |
probably damaging |
Het |
Kcnq5 |
T |
C |
1: 21,472,428 (GRCm39) |
S811G |
probably null |
Het |
Kcnt1 |
T |
A |
2: 25,782,372 (GRCm39) |
H156Q |
probably benign |
Het |
Kif1a |
T |
C |
1: 92,988,517 (GRCm39) |
N507S |
probably damaging |
Het |
Krt84 |
T |
C |
15: 101,438,019 (GRCm39) |
E312G |
possibly damaging |
Het |
Manea |
A |
G |
4: 26,327,871 (GRCm39) |
L390P |
probably damaging |
Het |
Mboat2 |
A |
G |
12: 24,996,672 (GRCm39) |
D225G |
possibly damaging |
Het |
Medag |
T |
A |
5: 149,350,717 (GRCm39) |
F64Y |
probably damaging |
Het |
Mtmr6 |
T |
A |
14: 60,530,856 (GRCm39) |
S331R |
probably damaging |
Het |
Myh1 |
A |
C |
11: 67,113,234 (GRCm39) |
D1873A |
probably benign |
Het |
Nek9 |
A |
G |
12: 85,376,677 (GRCm39) |
W235R |
probably damaging |
Het |
Nomo1 |
T |
C |
7: 45,706,151 (GRCm39) |
S502P |
possibly damaging |
Het |
Or10g6 |
A |
G |
9: 39,933,985 (GRCm39) |
I99V |
probably benign |
Het |
Or3a1b |
A |
G |
11: 74,012,406 (GRCm39) |
Y97C |
probably benign |
Het |
Or8k30 |
T |
A |
2: 86,339,089 (GRCm39) |
Y95* |
probably null |
Het |
Otof |
T |
A |
5: 30,546,116 (GRCm39) |
E427D |
probably benign |
Het |
Pclo |
T |
C |
5: 14,727,094 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
T |
G |
15: 44,363,378 (GRCm39) |
|
probably null |
Het |
Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
Rad21l |
T |
C |
2: 151,496,621 (GRCm39) |
|
probably null |
Het |
Rbbp6 |
T |
C |
7: 122,589,575 (GRCm39) |
V459A |
probably damaging |
Het |
Rsbn1l |
G |
A |
5: 21,107,368 (GRCm39) |
H549Y |
probably damaging |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Senp1 |
C |
T |
15: 97,956,196 (GRCm39) |
V408I |
possibly damaging |
Het |
Slc44a5 |
T |
C |
3: 153,964,130 (GRCm39) |
F499L |
possibly damaging |
Het |
Slitrk3 |
C |
T |
3: 72,957,297 (GRCm39) |
V492I |
probably benign |
Het |
Spef2 |
T |
A |
15: 9,668,989 (GRCm39) |
|
probably null |
Het |
Ssc5d |
A |
T |
7: 4,945,713 (GRCm39) |
D915V |
possibly damaging |
Het |
Stard9 |
A |
G |
2: 120,523,349 (GRCm39) |
D668G |
probably damaging |
Het |
Sycp2l |
A |
G |
13: 41,271,780 (GRCm39) |
D73G |
probably benign |
Het |
Tmem8b |
G |
A |
4: 43,681,300 (GRCm39) |
C439Y |
probably damaging |
Het |
Vmn1r195 |
C |
G |
13: 22,462,934 (GRCm39) |
L135V |
possibly damaging |
Het |
Vmn1r74 |
G |
T |
7: 11,581,302 (GRCm39) |
V201F |
probably damaging |
Het |
Vmn2r-ps158 |
A |
T |
7: 42,696,883 (GRCm39) |
I647F |
probably damaging |
Het |
Zfp956 |
G |
A |
6: 47,940,805 (GRCm39) |
R388H |
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 |
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 |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- AGCATCACCGAGCTCTCTTG -3'
(R):5'- AAGTCTGATTGGCACTGGGG -3'
Sequencing Primer
(F):5'- TCACCGAGCTCTCTTGGAAAC -3'
(R):5'- GCACTGGGGACTTCTGTTCC -3'
|
Posted On |
2014-08-25 |