Incidental Mutation 'R6366:Tectb'
| ID |
512721 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tectb
|
| Ensembl Gene |
ENSMUSG00000024979 |
| Gene Name |
tectorin beta |
| Synonyms |
Tctnb, [b]-tectorin |
| MMRRC Submission |
044516-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R6366 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
55169165-55184745 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 55170350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 67
(G67D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121767
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025936]
[ENSMUST00000120936]
[ENSMUST00000154886]
|
| AlphaFold |
O08524 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025936
AA Change: G67D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025936
Gene: ENSMUSG00000024979
AA Change: G67D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
ZP
|
31 |
283 |
3.47e-50 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120936
AA Change: G67D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113805
Gene: ENSMUSG00000024979
AA Change: G67D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
ZP
|
31 |
293 |
1.9e-47 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154886
AA Change: G67D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121767
Gene: ENSMUSG00000024979
AA Change: G67D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
ZP
|
31 |
196 |
6.19e-2 |
SMART |
|
| Meta Mutation Damage Score |
0.1964 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.0%
- 20x: 93.4%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
A |
G |
3: 116,584,766 (GRCm39) |
F185L |
probably damaging |
Het |
| Ank3 |
A |
G |
10: 69,835,188 (GRCm39) |
D131G |
probably damaging |
Het |
| Boc |
T |
C |
16: 44,308,015 (GRCm39) |
K947E |
probably benign |
Het |
| Ccdc110 |
A |
G |
8: 46,396,425 (GRCm39) |
E772G |
probably damaging |
Het |
| Ccdc7a |
A |
G |
8: 129,582,473 (GRCm39) |
V1055A |
unknown |
Het |
| Chd1l |
A |
G |
3: 97,501,476 (GRCm39) |
V190A |
probably benign |
Het |
| Chl1 |
C |
A |
6: 103,706,197 (GRCm39) |
N396K |
possibly damaging |
Het |
| CN725425 |
T |
G |
15: 91,131,124 (GRCm39) |
Y420D |
possibly damaging |
Het |
| Col6a1 |
A |
T |
10: 76,546,804 (GRCm39) |
I806N |
unknown |
Het |
| Csmd2 |
A |
G |
4: 128,377,245 (GRCm39) |
K2042E |
probably benign |
Het |
| Eif4a1 |
G |
T |
11: 69,561,781 (GRCm39) |
D15E |
probably benign |
Het |
| Etfb |
T |
C |
7: 43,102,365 (GRCm39) |
L119S |
probably damaging |
Het |
| Fbxo42 |
T |
A |
4: 140,927,260 (GRCm39) |
S513R |
probably benign |
Het |
| Gys2 |
C |
A |
6: 142,409,120 (GRCm39) |
C45F |
probably benign |
Het |
| Hspa1a |
G |
A |
17: 35,189,500 (GRCm39) |
P468S |
probably damaging |
Het |
| Kdm2a |
G |
T |
19: 4,374,960 (GRCm39) |
Q724K |
probably benign |
Het |
| Lama3 |
G |
T |
18: 12,615,194 (GRCm39) |
G1373W |
probably damaging |
Het |
| Lhx1 |
A |
T |
11: 84,413,034 (GRCm39) |
F84Y |
probably damaging |
Het |
| Lpxn |
G |
A |
19: 12,802,163 (GRCm39) |
V163M |
probably benign |
Het |
| Lrrc7 |
T |
C |
3: 157,841,012 (GRCm39) |
Q1389R |
probably benign |
Het |
| Lrtm2 |
T |
C |
6: 119,294,238 (GRCm39) |
R298G |
probably damaging |
Het |
| Ltv1 |
A |
G |
10: 13,056,739 (GRCm39) |
V268A |
probably benign |
Het |
| Mgat4d |
T |
A |
8: 84,095,580 (GRCm39) |
|
probably null |
Het |
| Mknk2 |
C |
A |
10: 80,507,767 (GRCm39) |
R33L |
probably damaging |
Het |
| Ms4a1 |
A |
G |
19: 11,236,062 (GRCm39) |
S42P |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,557,340 (GRCm39) |
I2984M |
unknown |
Het |
| Mup12 |
A |
C |
4: 60,696,657 (GRCm39) |
F74V |
probably damaging |
Het |
| Nacad |
A |
C |
11: 6,551,196 (GRCm39) |
L665R |
probably benign |
Het |
| Pde6a |
T |
A |
18: 61,398,142 (GRCm39) |
|
probably null |
Het |
| Plb1 |
A |
G |
5: 32,471,429 (GRCm39) |
N579D |
possibly damaging |
Het |
| Podn |
T |
A |
4: 107,876,001 (GRCm39) |
I552F |
possibly damaging |
Het |
| Potefam1 |
A |
G |
2: 110,999,937 (GRCm39) |
|
probably null |
Het |
| Pramel32 |
T |
A |
4: 88,547,102 (GRCm39) |
I106F |
probably damaging |
Het |
| Prl3b1 |
A |
T |
13: 27,427,875 (GRCm39) |
M62L |
probably benign |
Het |
| Ptpn13 |
G |
T |
5: 103,698,919 (GRCm39) |
R1134L |
probably damaging |
Het |
| Rpl37 |
T |
A |
15: 5,147,990 (GRCm39) |
|
probably null |
Het |
| Samd4 |
T |
A |
14: 47,311,607 (GRCm39) |
|
probably null |
Het |
| Sh3rf2 |
T |
C |
18: 42,286,130 (GRCm39) |
V541A |
probably benign |
Het |
| Shcbp1 |
A |
G |
8: 4,799,380 (GRCm39) |
V335A |
probably damaging |
Het |
| Slc7a7 |
T |
C |
14: 54,612,057 (GRCm39) |
Y282C |
probably damaging |
Het |
| Spag7 |
T |
C |
11: 70,555,418 (GRCm39) |
K125E |
possibly damaging |
Het |
| Spata31e4 |
T |
C |
13: 50,855,972 (GRCm39) |
Y537H |
probably benign |
Het |
| Sptan1 |
T |
C |
2: 29,910,467 (GRCm39) |
S1831P |
possibly damaging |
Het |
| Stab1 |
T |
C |
14: 30,863,395 (GRCm39) |
K2097R |
probably benign |
Het |
| Stk38 |
A |
G |
17: 29,193,338 (GRCm39) |
W364R |
probably benign |
Het |
| Ttll9 |
G |
T |
2: 152,833,525 (GRCm39) |
D208Y |
probably damaging |
Het |
| Tyro3 |
G |
A |
2: 119,647,156 (GRCm39) |
D758N |
probably damaging |
Het |
| Tyw1 |
T |
C |
5: 130,310,792 (GRCm39) |
|
probably benign |
Het |
| Unc5b |
C |
T |
10: 60,614,091 (GRCm39) |
A253T |
probably benign |
Het |
| Wtap |
A |
T |
17: 13,186,945 (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 |
|
|
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 |
|
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'- GACGTTTGGGAAACTCGTCAC -3'
(R):5'- AAGGGCTTTGGATCATTGTGAATC -3'
Sequencing Primer
(F):5'- ACAGCCGGTGAATTATTCTGTG -3'
(R):5'- GTGAATCCTCTTACAGATGGCAGC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation