Incidental Mutation 'R0655:Tectb'
| ID |
62535 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tectb
|
| Ensembl Gene |
ENSMUSG00000024979 |
| Gene Name |
tectorin beta |
| Synonyms |
Tctnb, [b]-tectorin |
| MMRRC Submission |
038840-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R0655 (G1)
|
| Quality Score |
122 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
55169165-55184745 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 55178302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 234
(G234S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025936]
[ENSMUST00000120936]
[ENSMUST00000154886]
|
| AlphaFold |
O08524 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025936
AA Change: G224S
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000025936
Gene: ENSMUSG00000024979
AA Change: G224S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
ZP
|
31 |
283 |
3.47e-50 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120936
AA Change: G234S
PolyPhen 2
Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113805
Gene: ENSMUSG00000024979
AA Change: G234S
| 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 |
unknown
Transcript: ENSMUST00000124545
AA Change: G57S
|
| SMART Domains |
Protein: ENSMUSP00000117645
Gene: ENSMUSG00000024979
AA Change: G57S
| 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: 99.4%
- 3x: 99.0%
- 10x: 97.7%
- 20x: 95.8%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
G |
C |
17: 36,268,737 (GRCm39) |
I757M |
probably benign |
Het |
| Abtb3 |
A |
G |
10: 85,481,390 (GRCm39) |
T931A |
probably damaging |
Het |
| Atg16l1 |
T |
A |
1: 87,694,551 (GRCm39) |
I76N |
probably damaging |
Het |
| Baz1b |
T |
A |
5: 135,271,284 (GRCm39) |
I1289N |
probably benign |
Het |
| Bcl2l15 |
T |
A |
3: 103,740,285 (GRCm39) |
|
probably null |
Het |
| Cbl |
G |
T |
9: 44,070,049 (GRCm39) |
T566K |
probably damaging |
Het |
| Cd96 |
T |
C |
16: 45,919,482 (GRCm39) |
K180E |
probably benign |
Het |
| Cpxm2 |
G |
A |
7: 131,656,549 (GRCm39) |
T571I |
possibly damaging |
Het |
| Cyp2a12 |
A |
T |
7: 26,736,046 (GRCm39) |
Y485F |
probably benign |
Het |
| Cyp4f17 |
T |
A |
17: 32,743,871 (GRCm39) |
Y350N |
possibly damaging |
Het |
| Dstn |
T |
A |
2: 143,780,342 (GRCm39) |
I14N |
probably damaging |
Het |
| Eea1 |
A |
G |
10: 95,831,460 (GRCm39) |
S184G |
probably benign |
Het |
| Eif1a |
G |
T |
18: 46,741,130 (GRCm39) |
G122C |
probably damaging |
Het |
| Esf1 |
T |
A |
2: 139,990,799 (GRCm39) |
T562S |
probably benign |
Het |
| Fem1c |
G |
A |
18: 46,638,227 (GRCm39) |
R592C |
probably benign |
Het |
| Fig4 |
T |
C |
10: 41,161,673 (GRCm39) |
N30S |
probably damaging |
Het |
| Gria2 |
C |
A |
3: 80,639,377 (GRCm39) |
E212* |
probably null |
Het |
| Gsdmc2 |
C |
T |
15: 63,699,622 (GRCm39) |
A269T |
probably benign |
Het |
| Herc4 |
T |
C |
10: 63,109,350 (GRCm39) |
V195A |
probably benign |
Het |
| Hivep1 |
T |
C |
13: 42,321,061 (GRCm39) |
S2123P |
probably damaging |
Het |
| Hspa4 |
T |
C |
11: 53,160,519 (GRCm39) |
E519G |
probably benign |
Het |
| Htr2b |
A |
G |
1: 86,038,565 (GRCm39) |
S14P |
probably benign |
Het |
| Ifit1 |
T |
C |
19: 34,625,047 (GRCm39) |
V61A |
probably damaging |
Het |
| Ifitm1 |
C |
A |
7: 140,549,449 (GRCm39) |
F77L |
probably benign |
Het |
| Matn2 |
T |
C |
15: 34,345,346 (GRCm39) |
S118P |
probably benign |
Het |
| Mtmr3 |
C |
A |
11: 4,438,610 (GRCm39) |
D615Y |
probably damaging |
Het |
| Mtss1 |
C |
A |
15: 58,953,351 (GRCm39) |
C9F |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,417,679 (GRCm39) |
I3542F |
probably benign |
Het |
| Nwd2 |
T |
C |
5: 63,948,928 (GRCm39) |
S167P |
possibly damaging |
Het |
| Or1e34 |
T |
C |
11: 73,778,631 (GRCm39) |
D189G |
possibly damaging |
Het |
| Or2ag1b |
A |
T |
7: 106,288,632 (GRCm39) |
F102Y |
probably damaging |
Het |
| Or8b54 |
C |
T |
9: 38,686,850 (GRCm39) |
Q100* |
probably null |
Het |
| Oscp1 |
T |
C |
4: 125,952,526 (GRCm39) |
L18P |
probably damaging |
Het |
| Pax5 |
A |
G |
4: 44,537,462 (GRCm39) |
S297P |
probably damaging |
Het |
| Phldb3 |
A |
T |
7: 24,323,797 (GRCm39) |
D476V |
probably benign |
Het |
| Phlpp2 |
A |
T |
8: 110,622,219 (GRCm39) |
I154L |
probably benign |
Het |
| Prx |
T |
A |
7: 27,216,846 (GRCm39) |
V449E |
probably damaging |
Het |
| Psd3 |
A |
G |
8: 68,416,341 (GRCm39) |
S519P |
probably benign |
Het |
| Rnf138 |
T |
G |
18: 21,143,840 (GRCm39) |
V128G |
probably benign |
Het |
| Safb |
T |
A |
17: 56,904,803 (GRCm39) |
S209T |
probably benign |
Het |
| Sbno1 |
C |
A |
5: 124,514,212 (GRCm39) |
V1327L |
possibly damaging |
Het |
| Scarb1 |
A |
G |
5: 125,377,504 (GRCm39) |
V176A |
probably damaging |
Het |
| Scd4 |
A |
G |
19: 44,327,407 (GRCm39) |
H161R |
possibly damaging |
Het |
| Selenoo |
T |
A |
15: 88,979,858 (GRCm39) |
H335Q |
probably damaging |
Het |
| Slfn8 |
A |
G |
11: 82,894,647 (GRCm39) |
F664S |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,626,217 (GRCm39) |
I1116M |
possibly damaging |
Het |
| Taf2 |
G |
A |
15: 54,901,690 (GRCm39) |
R835W |
probably damaging |
Het |
| Tdrd9 |
A |
G |
12: 112,006,899 (GRCm39) |
E921G |
probably damaging |
Het |
| Tmc1 |
C |
T |
19: 20,776,540 (GRCm39) |
M606I |
probably damaging |
Het |
| Tmed10 |
T |
A |
12: 85,390,291 (GRCm39) |
I88F |
probably damaging |
Het |
| Tnfrsf11a |
G |
A |
1: 105,735,880 (GRCm39) |
V31I |
unknown |
Het |
| Trp53inp2 |
G |
T |
2: 155,228,088 (GRCm39) |
G98* |
probably null |
Het |
| Tssc4 |
A |
G |
7: 142,623,782 (GRCm39) |
D30G |
probably damaging |
Het |
| Uaca |
T |
C |
9: 60,779,311 (GRCm39) |
Y1233H |
probably benign |
Het |
| Unc13c |
G |
A |
9: 73,838,235 (GRCm39) |
T872I |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,542,940 (GRCm39) |
H398R |
probably damaging |
Het |
| Vmn1r64 |
G |
A |
7: 5,887,207 (GRCm39) |
T112I |
probably benign |
Het |
| Vmn1r85 |
A |
G |
7: 12,818,650 (GRCm39) |
Y165H |
probably damaging |
Het |
| Vmn2r72 |
A |
T |
7: 85,387,319 (GRCm39) |
C748* |
probably null |
Het |
| Wdr17 |
A |
G |
8: 55,102,233 (GRCm39) |
W929R |
probably damaging |
Het |
| Yeats2 |
A |
T |
16: 20,012,574 (GRCm39) |
K591* |
probably null |
Het |
| Zbtb9 |
T |
A |
17: 27,193,074 (GRCm39) |
S160T |
probably damaging |
Het |
| Znfx1 |
T |
A |
2: 166,898,827 (GRCm39) |
R32S |
probably damaging |
Het |
| Zng1 |
T |
C |
19: 24,930,684 (GRCm39) |
M122V |
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 |
|
|
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 |
|
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'- TGGAAACGTCCGAAATCGGCTC -3'
(R):5'- ACCTGCCTCTCAGTGACAGATACC -3'
Sequencing Primer
(F):5'- TAAGCGTTCGGTAAGTCCC -3'
(R):5'- GTGCTCCTGTGTTCAGAAAATACC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation