Incidental Mutation 'R8277:Tctn1'
| ID |
638023 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tctn1
|
| Ensembl Gene |
ENSMUSG00000038593 |
| Gene Name |
tectonic family member 1 |
| Synonyms |
G730031O11Rik, Tect1 |
| MMRRC Submission |
067700-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8277 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
122377558-122402557 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to G
at 122402431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 1
(M1T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107367
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111738]
[ENSMUST00000141281]
|
| AlphaFold |
Q8BZ64 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000111738
AA Change: M1T
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000107367
Gene: ENSMUSG00000038593
AA Change: M1T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
24 |
36 |
N/A |
INTRINSIC |
|
Pfam:DUF1619
|
82 |
395 |
8.4e-84 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000141281
AA Change: M1T
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000114820
Gene: ENSMUSG00000038593
AA Change: M1T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
24 |
36 |
N/A |
INTRINSIC |
|
Pfam:DUF1619
|
82 |
384 |
1.5e-84 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (43/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of secreted and transmembrane proteins. The orthologous gene in mouse functions downstream of smoothened and rab23 to modulate hedgehog signal transduction. This protein is a component of the tectonic-like complex, which forms a barrier between the ciliary axoneme and the basal body. A mutation in this gene was found in a family with Joubert syndrome-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit embryonic lethality, holoprosencephaly and lack a neural floor plate. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
C |
A |
19: 57,204,351 (GRCm39) |
L13F |
probably benign |
Het |
| Apoe |
C |
T |
7: 19,432,303 (GRCm39) |
|
probably benign |
Het |
| Arap2 |
A |
G |
5: 62,771,335 (GRCm39) |
|
probably null |
Het |
| Aspm |
T |
C |
1: 139,382,748 (GRCm39) |
S27P |
probably damaging |
Het |
| Atcay |
C |
A |
10: 81,050,646 (GRCm39) |
D90Y |
probably damaging |
Het |
| Cd46 |
A |
T |
1: 194,747,030 (GRCm39) |
D327E |
probably damaging |
Het |
| Cfh |
A |
G |
1: 140,029,347 (GRCm39) |
W1001R |
probably damaging |
Het |
| Chrm2 |
G |
A |
6: 36,500,211 (GRCm39) |
V23M |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,516,410 (GRCm39) |
G175R |
probably null |
Het |
| Ddx52 |
T |
C |
11: 83,845,940 (GRCm39) |
S422P |
probably damaging |
Het |
| Dync2i2 |
A |
G |
2: 29,923,886 (GRCm39) |
V213A |
probably benign |
Het |
| Entr1 |
G |
A |
2: 26,274,778 (GRCm39) |
A373V |
probably damaging |
Het |
| Gucy2d |
T |
A |
7: 98,092,682 (GRCm39) |
W20R |
probably benign |
Het |
| Hao2 |
A |
G |
3: 98,787,700 (GRCm39) |
I243T |
probably damaging |
Het |
| Hmcn2 |
A |
C |
2: 31,259,189 (GRCm39) |
T1010P |
probably benign |
Het |
| Iqcf1 |
T |
C |
9: 106,379,077 (GRCm39) |
S29P |
probably benign |
Het |
| Kat2b |
T |
A |
17: 53,948,281 (GRCm39) |
D350E |
probably benign |
Het |
| Lingo4 |
A |
G |
3: 94,309,931 (GRCm39) |
S290G |
possibly damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,954,220 (GRCm39) |
T834A |
probably benign |
Het |
| Mro |
A |
T |
18: 73,997,132 (GRCm39) |
|
probably benign |
Het |
| Mrps26 |
T |
A |
2: 130,406,347 (GRCm39) |
L160Q |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,183,735 (GRCm39) |
I788T |
probably benign |
Het |
| Nab2 |
G |
A |
10: 127,501,168 (GRCm39) |
|
probably benign |
Het |
| Nr2c2ap |
C |
T |
8: 70,585,131 (GRCm39) |
Q67* |
probably null |
Het |
| Or1p1b |
C |
T |
11: 74,130,842 (GRCm39) |
L151F |
probably benign |
Het |
| Pask |
C |
T |
1: 93,253,085 (GRCm39) |
|
probably null |
Het |
| Pcnx2 |
A |
T |
8: 126,592,755 (GRCm39) |
S736R |
probably damaging |
Het |
| Per2 |
G |
T |
1: 91,348,274 (GRCm39) |
D1109E |
probably benign |
Het |
| Plxna1 |
G |
A |
6: 89,334,162 (GRCm39) |
H156Y |
probably damaging |
Het |
| Polr2a |
G |
A |
11: 69,638,882 (GRCm39) |
R51C |
probably damaging |
Het |
| Rbpms2 |
T |
A |
9: 65,556,695 (GRCm39) |
F45Y |
probably damaging |
Het |
| Rmdn3 |
T |
C |
2: 118,976,905 (GRCm39) |
D276G |
probably damaging |
Het |
| Septin2 |
T |
A |
1: 93,427,030 (GRCm39) |
I171K |
probably benign |
Het |
| Serpinb3a |
C |
A |
1: 106,973,970 (GRCm39) |
G314C |
probably damaging |
Het |
| Slc35f3 |
T |
A |
8: 127,115,925 (GRCm39) |
V284D |
possibly damaging |
Het |
| Snapc4 |
A |
G |
2: 26,255,722 (GRCm39) |
V934A |
probably benign |
Het |
| Tgoln1 |
G |
A |
6: 72,593,838 (GRCm39) |
|
probably benign |
Het |
| Unc5c |
G |
A |
3: 141,474,373 (GRCm39) |
|
probably null |
Het |
| Vmn2r11 |
A |
T |
5: 109,202,833 (GRCm39) |
F81L |
probably benign |
Het |
| Vmn2r15 |
A |
T |
5: 109,440,970 (GRCm39) |
V296E |
probably benign |
Het |
| Vmn2r15 |
C |
T |
5: 109,441,310 (GRCm39) |
D183N |
probably damaging |
Het |
| Zfp763 |
T |
C |
17: 33,252,294 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tctn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01115:Tctn1
|
APN |
5 |
122,402,270 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02019:Tctn1
|
APN |
5 |
122,396,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02810:Tctn1
|
APN |
5 |
122,380,664 (GRCm39) |
splice site |
probably null |
|
|
R0648:Tctn1
|
UTSW |
5 |
122,389,761 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0883:Tctn1
|
UTSW |
5 |
122,402,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0969:Tctn1
|
UTSW |
5 |
122,379,840 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1172:Tctn1
|
UTSW |
5 |
122,389,752 (GRCm39) |
nonsense |
probably null |
|
|
R1959:Tctn1
|
UTSW |
5 |
122,379,903 (GRCm39) |
splice site |
probably null |
|
|
R2099:Tctn1
|
UTSW |
5 |
122,380,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4707:Tctn1
|
UTSW |
5 |
122,399,468 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4836:Tctn1
|
UTSW |
5 |
122,383,568 (GRCm39) |
missense |
probably benign |
|
|
R5437:Tctn1
|
UTSW |
5 |
122,396,942 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6149:Tctn1
|
UTSW |
5 |
122,384,649 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6358:Tctn1
|
UTSW |
5 |
122,399,575 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6629:Tctn1
|
UTSW |
5 |
122,380,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6744:Tctn1
|
UTSW |
5 |
122,402,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6899:Tctn1
|
UTSW |
5 |
122,387,019 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7332:Tctn1
|
UTSW |
5 |
122,399,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7576:Tctn1
|
UTSW |
5 |
122,386,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7883:Tctn1
|
UTSW |
5 |
122,402,375 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7909:Tctn1
|
UTSW |
5 |
122,399,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8465:Tctn1
|
UTSW |
5 |
122,379,859 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8493:Tctn1
|
UTSW |
5 |
122,399,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8508:Tctn1
|
UTSW |
5 |
122,384,674 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9146:Tctn1
|
UTSW |
5 |
122,389,745 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9651:Tctn1
|
UTSW |
5 |
122,384,576 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9764:Tctn1
|
UTSW |
5 |
122,388,527 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
Z1088:Tctn1
|
UTSW |
5 |
122,389,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTTTGAGCTGGTGTACCCG -3'
(R):5'- GCTCCTTAGAAAGAGCTGTCTC -3'
Sequencing Primer
(F):5'- TGTACCCACCGTCCGTGAC -3'
(R):5'- TCCTTAGAAAGAGCTGTCTCATACC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation