Incidental Mutation 'IGL02019:Tctn1'
| ID |
183912 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tctn1
|
| Ensembl Gene |
ENSMUSG00000038593 |
| Gene Name |
tectonic family member 1 |
| Synonyms |
G730031O11Rik, Tect1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02019
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
122377558-122402557 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 122396912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 157
(I157N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107367
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111738]
[ENSMUST00000141281]
|
| AlphaFold |
Q8BZ64 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111738
AA Change: I157N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107367
Gene: ENSMUSG00000038593
AA Change: I157N
| 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 |
noncoding transcript
Transcript: ENSMUST00000137118
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141281
AA Change: I157N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000114820
Gene: ENSMUSG00000038593
AA Change: I157N
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177148
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
C |
T |
5: 115,017,645 (GRCm39) |
A178V |
possibly damaging |
Het |
| Acad11 |
A |
G |
9: 103,992,544 (GRCm39) |
I495M |
probably damaging |
Het |
| Adgrd1 |
T |
C |
5: 129,192,202 (GRCm39) |
S91P |
probably benign |
Het |
| Agk |
A |
G |
6: 40,353,160 (GRCm39) |
I175V |
probably damaging |
Het |
| Ascc3 |
A |
T |
10: 50,566,235 (GRCm39) |
N727Y |
probably damaging |
Het |
| Atrnl1 |
A |
T |
19: 57,680,195 (GRCm39) |
|
probably benign |
Het |
| B4galt3 |
G |
A |
1: 171,099,362 (GRCm39) |
G42D |
probably damaging |
Het |
| Brd10 |
A |
T |
19: 29,694,463 (GRCm39) |
S976T |
probably benign |
Het |
| Brip1 |
C |
T |
11: 86,088,775 (GRCm39) |
C42Y |
possibly damaging |
Het |
| Camkk1 |
T |
C |
11: 72,928,027 (GRCm39) |
F233L |
probably damaging |
Het |
| Cd300ld |
A |
T |
11: 114,878,227 (GRCm39) |
M95K |
probably damaging |
Het |
| Cdv3 |
A |
G |
9: 103,237,224 (GRCm39) |
|
probably benign |
Het |
| Cog3 |
G |
T |
14: 75,968,044 (GRCm39) |
Q430K |
possibly damaging |
Het |
| D6Wsu163e |
G |
A |
6: 126,932,184 (GRCm39) |
G308S |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,365,111 (GRCm39) |
M1951T |
probably damaging |
Het |
| Elavl3 |
G |
A |
9: 21,948,014 (GRCm39) |
T51I |
probably damaging |
Het |
| Eri2 |
A |
T |
7: 119,385,303 (GRCm39) |
C399* |
probably null |
Het |
| Ezh2 |
A |
T |
6: 47,528,835 (GRCm39) |
|
probably null |
Het |
| Fgd6 |
C |
A |
10: 93,969,216 (GRCm39) |
T1161K |
probably damaging |
Het |
| Gbf1 |
A |
T |
19: 46,267,731 (GRCm39) |
H1193L |
possibly damaging |
Het |
| Gbp2b |
T |
A |
3: 142,312,751 (GRCm39) |
F378Y |
possibly damaging |
Het |
| Hectd2 |
G |
A |
19: 36,592,916 (GRCm39) |
V694M |
possibly damaging |
Het |
| Hook1 |
T |
A |
4: 95,910,434 (GRCm39) |
S683T |
probably benign |
Het |
| Ifi202b |
G |
A |
1: 173,802,550 (GRCm39) |
R95C |
possibly damaging |
Het |
| Kdm8 |
G |
T |
7: 125,051,658 (GRCm39) |
V84L |
probably damaging |
Het |
| Kifc3 |
G |
A |
8: 95,834,168 (GRCm39) |
|
probably benign |
Het |
| Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
| Lrig1 |
G |
T |
6: 94,593,410 (GRCm39) |
Q424K |
probably damaging |
Het |
| Lrriq1 |
A |
T |
10: 103,014,661 (GRCm39) |
M1049K |
probably benign |
Het |
| Mcidas |
A |
G |
13: 113,133,377 (GRCm39) |
N103D |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,749,948 (GRCm39) |
L4377S |
possibly damaging |
Het |
| Mrpl41 |
T |
C |
2: 24,864,429 (GRCm39) |
D81G |
possibly damaging |
Het |
| Mug2 |
G |
A |
6: 122,024,394 (GRCm39) |
V489I |
probably benign |
Het |
| P2rx5 |
G |
T |
11: 73,058,803 (GRCm39) |
|
probably benign |
Het |
| Pfas |
A |
T |
11: 68,884,289 (GRCm39) |
|
probably benign |
Het |
| Pknox2 |
A |
G |
9: 36,834,929 (GRCm39) |
L180P |
probably damaging |
Het |
| Psmd5 |
C |
A |
2: 34,744,286 (GRCm39) |
C412F |
probably benign |
Het |
| Rbks |
T |
A |
5: 31,817,361 (GRCm39) |
D136V |
probably damaging |
Het |
| Rgl1 |
A |
G |
1: 152,404,220 (GRCm39) |
|
probably benign |
Het |
| Scube3 |
A |
G |
17: 28,386,658 (GRCm39) |
D721G |
probably damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,074,825 (GRCm39) |
V1466D |
possibly damaging |
Het |
| Stambp |
A |
T |
6: 83,529,013 (GRCm39) |
L344Q |
probably damaging |
Het |
| Top2b |
T |
A |
14: 16,409,965 (GRCm38) |
D877E |
probably benign |
Het |
| Vmn1r78 |
G |
A |
7: 11,886,634 (GRCm39) |
G82S |
probably damaging |
Het |
| Vnn1 |
T |
C |
10: 23,779,449 (GRCm39) |
F453L |
possibly damaging |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
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 |
|
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 |
|
R8277:Tctn1
|
UTSW |
5 |
122,402,431 (GRCm39) |
start codon destroyed |
probably null |
0.95 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation