Incidental Mutation 'IGL01115:Tctn1'
| ID |
51132 |
| 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 # |
IGL01115
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
122377558-122402557 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122402270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 55
(S55P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114820
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111738]
[ENSMUST00000141281]
|
| AlphaFold |
Q8BZ64 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111738
AA Change: S55P
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000107367
Gene: ENSMUSG00000038593
AA Change: S55P
| 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 benign
Transcript: ENSMUST00000141281
AA Change: S55P
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000114820
Gene: ENSMUSG00000038593
AA Change: S55P
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
T |
C |
17: 46,621,352 (GRCm39) |
T934A |
probably benign |
Het |
| Ankzf1 |
T |
C |
1: 75,169,259 (GRCm39) |
L55P |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,883,131 (GRCm39) |
S336P |
probably damaging |
Het |
| Bmper |
T |
C |
9: 23,310,985 (GRCm39) |
|
probably benign |
Het |
| Capza2 |
A |
G |
6: 17,654,122 (GRCm39) |
N58S |
probably damaging |
Het |
| Cdca2 |
A |
G |
14: 67,952,146 (GRCm39) |
V75A |
probably damaging |
Het |
| Chmp7 |
A |
G |
14: 69,958,772 (GRCm39) |
S181P |
probably damaging |
Het |
| Colq |
A |
G |
14: 31,267,085 (GRCm39) |
|
probably benign |
Het |
| Dennd5b |
A |
G |
6: 148,911,246 (GRCm39) |
|
probably benign |
Het |
| Has3 |
A |
G |
8: 107,605,320 (GRCm39) |
T509A |
probably benign |
Het |
| Hsh2d |
T |
C |
8: 72,954,463 (GRCm39) |
S282P |
probably damaging |
Het |
| Impg2 |
C |
T |
16: 56,079,803 (GRCm39) |
P536S |
possibly damaging |
Het |
| Naip1 |
T |
A |
13: 100,580,228 (GRCm39) |
|
probably null |
Het |
| Napb |
T |
C |
2: 148,549,089 (GRCm39) |
Y111C |
probably damaging |
Het |
| Or8w1 |
T |
C |
2: 87,465,728 (GRCm39) |
D121G |
probably damaging |
Het |
| Osmr |
A |
G |
15: 6,876,682 (GRCm39) |
|
probably benign |
Het |
| Pcdh10 |
A |
G |
3: 45,347,210 (GRCm39) |
T1002A |
probably damaging |
Het |
| Plcg2 |
T |
C |
8: 118,284,068 (GRCm39) |
W122R |
probably damaging |
Het |
| Prpf19 |
C |
T |
19: 10,877,567 (GRCm39) |
T204M |
probably damaging |
Het |
| Ptbp1 |
T |
A |
10: 79,695,796 (GRCm39) |
|
probably benign |
Het |
| Ptpre |
T |
A |
7: 135,272,493 (GRCm39) |
D402E |
probably damaging |
Het |
| Siglec1 |
T |
C |
2: 130,916,422 (GRCm39) |
N1176S |
probably benign |
Het |
| Son |
A |
G |
16: 91,456,346 (GRCm39) |
T1698A |
probably benign |
Het |
| Spata6l |
T |
C |
19: 28,921,842 (GRCm39) |
|
probably null |
Het |
| Speer2 |
C |
T |
16: 69,658,539 (GRCm39) |
W42* |
probably null |
Het |
| Taf5 |
T |
C |
19: 47,063,521 (GRCm39) |
V357A |
probably benign |
Het |
| Tmem115 |
T |
A |
9: 107,411,781 (GRCm39) |
L35Q |
probably damaging |
Het |
| Tmem30c |
T |
A |
16: 57,096,480 (GRCm39) |
|
probably benign |
Het |
| Tmprss7 |
T |
C |
16: 45,481,152 (GRCm39) |
D678G |
probably damaging |
Het |
| Ugt1a7c |
A |
T |
1: 88,022,967 (GRCm39) |
Q42L |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,258,492 (GRCm39) |
V4099E |
probably damaging |
Het |
| Usp36 |
G |
A |
11: 118,176,786 (GRCm39) |
L11F |
probably damaging |
Het |
| Zfp955a |
T |
A |
17: 33,461,554 (GRCm39) |
K193* |
probably null |
Het |
| Zranb2 |
T |
C |
3: 157,252,328 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tctn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation