Incidental Mutation 'R8935:Tectb'
| ID |
680604 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tectb
|
| Ensembl Gene |
ENSMUSG00000024979 |
| Gene Name |
tectorin beta |
| Synonyms |
Tctnb, [b]-tectorin |
| MMRRC Submission |
068778-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R8935 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
55169165-55184745 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 55183132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 338
(V338L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025936]
[ENSMUST00000069183]
[ENSMUST00000120936]
|
| AlphaFold |
O08524 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025936
AA Change: V328L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000025936
Gene: ENSMUSG00000024979
AA Change: V328L
| 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: ENSMUST00000069183
|
| SMART Domains |
Protein: ENSMUSP00000068253
Gene: ENSMUSG00000055523
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
38 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
65 |
416 |
5.2e-36 |
PFAM |
|
low complexity region
|
471 |
487 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
574 |
826 |
2e-26 |
PFAM |
|
Pfam:Pkinase_Tyr
|
577 |
826 |
6e-35 |
PFAM |
|
CYCc
|
865 |
1059 |
6.42e-96 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120936
AA Change: V338L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113805
Gene: ENSMUSG00000024979
AA Change: V338L
| 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: ENSMUST00000124545
|
| SMART Domains |
Protein: ENSMUSP00000117645
Gene: ENSMUSG00000024979
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Zona_pellucida
|
3 |
116 |
5.9e-27 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (61/61) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
G |
T |
8: 117,698,181 (GRCm39) |
Q309K |
probably benign |
Het |
| Adam20 |
T |
C |
8: 41,247,989 (GRCm39) |
V33A |
probably benign |
Het |
| Ank |
T |
C |
15: 27,591,112 (GRCm39) |
V417A |
probably damaging |
Het |
| Arhgef17 |
C |
T |
7: 100,527,324 (GRCm39) |
V779I |
probably benign |
Het |
| Atp6v0a1 |
T |
A |
11: 100,929,519 (GRCm39) |
F440I |
possibly damaging |
Het |
| Brca2 |
T |
G |
5: 150,492,446 (GRCm39) |
S3154A |
possibly damaging |
Het |
| Cdc27 |
T |
C |
11: 104,398,026 (GRCm39) |
E778G |
probably damaging |
Het |
| Cep128 |
C |
T |
12: 91,233,770 (GRCm39) |
E433K |
probably damaging |
Het |
| Cep192 |
C |
T |
18: 67,995,543 (GRCm39) |
T970I |
probably damaging |
Het |
| Chd2 |
T |
C |
7: 73,153,210 (GRCm39) |
T249A |
possibly damaging |
Het |
| Cpd |
C |
T |
11: 76,731,295 (GRCm39) |
G304S |
probably damaging |
Het |
| Cpsf7 |
T |
A |
19: 10,509,345 (GRCm39) |
Y85* |
probably null |
Het |
| Csf3r |
T |
A |
4: 125,937,200 (GRCm39) |
S695T |
probably benign |
Het |
| Cyp20a1 |
A |
G |
1: 60,410,473 (GRCm39) |
Q258R |
probably damaging |
Het |
| Ddi2 |
A |
T |
4: 141,412,600 (GRCm39) |
L104Q |
probably damaging |
Het |
| Dpp8 |
T |
C |
9: 64,983,066 (GRCm39) |
S733P |
possibly damaging |
Het |
| Efhd1 |
A |
G |
1: 87,217,219 (GRCm39) |
D112G |
probably damaging |
Het |
| Elapor2 |
C |
T |
5: 9,491,764 (GRCm39) |
T708M |
probably damaging |
Het |
| Fgfr3 |
A |
C |
5: 33,892,810 (GRCm39) |
D752A |
probably damaging |
Het |
| Fmod |
C |
A |
1: 133,968,586 (GRCm39) |
H209N |
probably benign |
Het |
| Gde1 |
C |
T |
7: 118,297,914 (GRCm39) |
E101K |
possibly damaging |
Het |
| Gldc |
C |
T |
19: 30,109,093 (GRCm39) |
R615Q |
probably benign |
Het |
| Gli2 |
T |
C |
1: 118,764,122 (GRCm39) |
E1343G |
probably damaging |
Het |
| Gm10800 |
A |
AC |
2: 98,497,378 (GRCm39) |
|
probably null |
Het |
| Gm4847 |
A |
G |
1: 166,469,789 (GRCm39) |
Y95H |
probably damaging |
Het |
| Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
| Gtpbp3 |
A |
G |
8: 71,945,181 (GRCm39) |
|
probably null |
Het |
| Haspin |
A |
G |
11: 73,026,890 (GRCm39) |
F733S |
probably damaging |
Het |
| Hgh1 |
C |
G |
15: 76,254,592 (GRCm39) |
R323G |
probably damaging |
Het |
| Idh1 |
A |
T |
1: 65,204,378 (GRCm39) |
I244N |
probably damaging |
Het |
| Idh2 |
T |
C |
7: 79,764,946 (GRCm39) |
T27A |
probably benign |
Het |
| Igkv4-69 |
T |
C |
6: 69,260,912 (GRCm39) |
T72A |
possibly damaging |
Het |
| Lmntd1 |
A |
G |
6: 145,489,229 (GRCm39) |
Y11H |
probably benign |
Het |
| Myt1l |
T |
C |
12: 29,877,243 (GRCm39) |
M298T |
unknown |
Het |
| Neb |
T |
C |
2: 52,141,780 (GRCm39) |
D3009G |
probably damaging |
Het |
| Nfya |
A |
T |
17: 48,700,294 (GRCm39) |
|
probably benign |
Het |
| Nsun2 |
A |
G |
13: 69,767,586 (GRCm39) |
D180G |
probably damaging |
Het |
| Or10ag60 |
A |
G |
2: 87,438,421 (GRCm39) |
T230A |
possibly damaging |
Het |
| Or4k50-ps1 |
A |
T |
2: 111,522,244 (GRCm39) |
Q127L |
unknown |
Het |
| Osbpl6 |
T |
C |
2: 76,379,800 (GRCm39) |
V130A |
possibly damaging |
Het |
| Prss44 |
T |
A |
9: 110,645,527 (GRCm39) |
I94N |
probably damaging |
Het |
| Rbm6 |
C |
T |
9: 107,677,945 (GRCm39) |
V15I |
probably benign |
Het |
| Rdh19 |
C |
T |
10: 127,685,929 (GRCm39) |
L14F |
possibly damaging |
Het |
| Rtkn |
T |
C |
6: 83,115,196 (GRCm39) |
L14P |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,508,402 (GRCm39) |
N3405K |
probably benign |
Het |
| Scp2 |
T |
C |
4: 107,950,072 (GRCm39) |
E179G |
probably damaging |
Het |
| Sema3e |
A |
T |
5: 14,282,127 (GRCm39) |
K421I |
probably damaging |
Het |
| Sorcs2 |
C |
T |
5: 36,193,202 (GRCm39) |
V755M |
possibly damaging |
Het |
| Spef2 |
T |
C |
15: 9,607,436 (GRCm39) |
I1328V |
probably damaging |
Het |
| Speg |
A |
T |
1: 75,399,250 (GRCm39) |
K2232N |
probably benign |
Het |
| St7l |
A |
G |
3: 104,778,204 (GRCm39) |
I114V |
probably damaging |
Het |
| Stkld1 |
C |
T |
2: 26,833,941 (GRCm39) |
Q143* |
probably null |
Het |
| Stox2 |
T |
C |
8: 47,645,895 (GRCm39) |
T586A |
possibly damaging |
Het |
| Supt20 |
A |
G |
3: 54,634,988 (GRCm39) |
|
probably null |
Het |
| Tiam1 |
T |
C |
16: 89,681,821 (GRCm39) |
N386D |
probably damaging |
Het |
| Trps1 |
G |
A |
15: 50,752,344 (GRCm39) |
Q2* |
probably null |
Het |
| Usp36 |
C |
T |
11: 118,167,657 (GRCm39) |
|
probably null |
Het |
| Vmn1r198 |
C |
T |
13: 22,539,092 (GRCm39) |
Q104* |
probably null |
Het |
| Vmn1r38 |
T |
C |
6: 66,753,979 (GRCm39) |
T46A |
probably benign |
Het |
| Vmn2r110 |
A |
G |
17: 20,803,957 (GRCm39) |
V206A |
probably benign |
Het |
| Vmn2r62 |
T |
A |
7: 42,437,791 (GRCm39) |
D231V |
probably benign |
Het |
| Zfp143 |
T |
C |
7: 109,669,736 (GRCm39) |
L55P |
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 |
|
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 |
|
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 |
|
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'- TAGTAGGGCCTCTGTCCTCTAG -3'
(R):5'- AGGCAGAGGTTCACCAAATTC -3'
Sequencing Primer
(F):5'- TCCTCTAGAAGTGGATCATGCCAG -3'
(R):5'- GGCAGAGGTTCACCAAATTCACATC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation