Incidental Mutation 'IGL02810:Tctn1'
| ID |
360563 |
| 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 # |
IGL02810
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
122377558-122402557 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 122380664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107367
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072602]
[ENSMUST00000100747]
[ENSMUST00000111738]
[ENSMUST00000141281]
[ENSMUST00000143560]
[ENSMUST00000196187]
|
| AlphaFold |
Q8BZ64 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072602
|
| SMART Domains |
Protein: ENSMUSP00000072401
Gene: ENSMUSG00000064267
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
63 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
94 |
226 |
1.2e-9 |
PFAM |
|
Pfam:VGPC1_C
|
222 |
269 |
1.5e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100747
|
| SMART Domains |
Protein: ENSMUSP00000098312
Gene: ENSMUSG00000064267
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
120 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
137 |
226 |
2.9e-7 |
PFAM |
|
low complexity region
|
255 |
266 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111738
|
| SMART Domains |
Protein: ENSMUSP00000107367
Gene: ENSMUSG00000038593
| 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
|
| SMART Domains |
Protein: ENSMUSP00000114820
Gene: ENSMUSG00000038593
| 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 |
probably benign
Transcript: ENSMUST00000143560
|
| SMART Domains |
Protein: ENSMUSP00000118013
Gene: ENSMUSG00000064267
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
63 |
N/A |
INTRINSIC |
|
PDB:3WKV|A
|
73 |
157 |
9e-33 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176677
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196187
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
C |
5: 113,249,401 (GRCm39) |
K1491E |
probably damaging |
Het |
| Abi3bp |
T |
C |
16: 56,498,138 (GRCm39) |
S696P |
probably damaging |
Het |
| Ago1 |
A |
G |
4: 126,336,886 (GRCm39) |
V273A |
probably benign |
Het |
| Atosb |
C |
A |
4: 43,034,429 (GRCm39) |
V389F |
probably damaging |
Het |
| Bbs2 |
A |
G |
8: 94,813,539 (GRCm39) |
Y213H |
probably benign |
Het |
| Car10 |
T |
A |
11: 93,469,522 (GRCm39) |
Y142N |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,799,016 (GRCm39) |
K415E |
possibly damaging |
Het |
| Exoc3l |
A |
T |
8: 106,021,980 (GRCm39) |
I41N |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 16,288,146 (GRCm39) |
D459G |
probably damaging |
Het |
| Gabbr1 |
T |
C |
17: 37,373,654 (GRCm39) |
F401L |
probably damaging |
Het |
| Galnt10 |
G |
A |
11: 57,616,412 (GRCm39) |
R109Q |
probably damaging |
Het |
| Gpr108 |
C |
T |
17: 57,549,742 (GRCm39) |
D265N |
probably benign |
Het |
| Helb |
T |
C |
10: 119,927,608 (GRCm39) |
N834S |
possibly damaging |
Het |
| Igkv8-30 |
A |
G |
6: 70,094,342 (GRCm39) |
V23A |
probably benign |
Het |
| Iqck |
A |
T |
7: 118,570,662 (GRCm39) |
K271N |
possibly damaging |
Het |
| Klhl17 |
T |
C |
4: 156,318,514 (GRCm39) |
E36G |
possibly damaging |
Het |
| Klrb1b |
A |
G |
6: 128,795,430 (GRCm39) |
|
probably null |
Het |
| Mybl1 |
G |
A |
1: 9,743,340 (GRCm39) |
P571S |
probably damaging |
Het |
| Mybl1 |
T |
C |
1: 9,748,613 (GRCm39) |
T328A |
probably benign |
Het |
| Nav3 |
A |
T |
10: 109,652,135 (GRCm39) |
D873E |
probably damaging |
Het |
| Nms |
T |
C |
1: 38,987,725 (GRCm39) |
Y147H |
possibly damaging |
Het |
| Nrde2 |
A |
T |
12: 100,110,017 (GRCm39) |
M338K |
possibly damaging |
Het |
| Oasl2 |
T |
A |
5: 115,035,852 (GRCm39) |
F43I |
probably damaging |
Het |
| Oxr1 |
G |
A |
15: 41,676,979 (GRCm39) |
V91I |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,613,942 (GRCm39) |
C503Y |
probably benign |
Het |
| Polr2m |
A |
T |
9: 71,390,848 (GRCm39) |
I14K |
probably benign |
Het |
| Ppara |
T |
C |
15: 85,661,878 (GRCm39) |
S40P |
probably damaging |
Het |
| Shisa6 |
T |
A |
11: 66,115,774 (GRCm39) |
T288S |
possibly damaging |
Het |
| Slc26a5 |
T |
C |
5: 22,018,381 (GRCm39) |
|
probably benign |
Het |
| Spag1 |
A |
G |
15: 36,234,693 (GRCm39) |
N818D |
probably damaging |
Het |
| Srcap |
T |
C |
7: 127,120,835 (GRCm39) |
|
probably null |
Het |
| Triobp |
A |
G |
15: 78,886,403 (GRCm39) |
N507S |
possibly damaging |
Het |
| Tut7 |
A |
G |
13: 59,929,830 (GRCm39) |
|
probably null |
Het |
| Ugt2b34 |
C |
A |
5: 87,054,383 (GRCm39) |
V133L |
probably benign |
Het |
| Yju2b |
A |
G |
8: 84,990,997 (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 |
|
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 |
2015-12-18 |
Incidental Mutation