Incidental Mutation 'IGL00776:Tctn3'
| ID |
14413 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tctn3
|
| Ensembl Gene |
ENSMUSG00000025008 |
| Gene Name |
tectonic family member 3 |
| Synonyms |
4930521E07Rik, Tect3 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00776
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
40584890-40600677 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40585865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 560
(F560S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025981
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025981]
|
| AlphaFold |
Q8R2Q6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025981
AA Change: F560S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000025981
Gene: ENSMUSG00000025008
AA Change: F560S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:DUF1619
|
78 |
379 |
6.3e-83 |
PFAM |
|
low complexity region
|
578 |
590 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181109
|
| 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 the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
A |
T |
2: 19,545,182 (GRCm39) |
D90E |
probably benign |
Het |
| Abcb5 |
T |
C |
12: 118,883,589 (GRCm39) |
S560G |
probably damaging |
Het |
| Ankrd24 |
A |
C |
10: 81,478,979 (GRCm39) |
|
probably benign |
Het |
| Atp8a1 |
A |
T |
5: 67,906,486 (GRCm39) |
I461N |
probably benign |
Het |
| Eif4a1 |
G |
A |
11: 69,559,922 (GRCm39) |
L166F |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,328,320 (GRCm39) |
H1542Q |
probably benign |
Het |
| Itih4 |
G |
A |
14: 30,611,561 (GRCm39) |
V95I |
probably benign |
Het |
| Kcnh7 |
A |
G |
2: 62,680,720 (GRCm39) |
I289T |
probably benign |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Mterf1a |
A |
C |
5: 3,941,809 (GRCm39) |
W20G |
possibly damaging |
Het |
| Slc24a5 |
T |
C |
2: 124,922,809 (GRCm39) |
S161P |
probably damaging |
Het |
| Slc25a21 |
G |
A |
12: 56,816,990 (GRCm39) |
T99I |
probably benign |
Het |
| Smurf1 |
A |
G |
5: 144,818,584 (GRCm39) |
S619P |
probably benign |
Het |
| Sorbs1 |
C |
T |
19: 40,332,795 (GRCm39) |
|
probably null |
Het |
| Strn4 |
C |
T |
7: 16,564,377 (GRCm39) |
R185C |
probably damaging |
Het |
|
| Other mutations in Tctn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01326:Tctn3
|
APN |
19 |
40,585,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01351:Tctn3
|
APN |
19 |
40,596,081 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01604:Tctn3
|
APN |
19 |
40,593,746 (GRCm39) |
splice site |
probably null |
|
|
IGL01844:Tctn3
|
APN |
19 |
40,600,581 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02469:Tctn3
|
APN |
19 |
40,585,967 (GRCm39) |
missense |
probably benign |
0.01 |
|
FR4449:Tctn3
|
UTSW |
19 |
40,595,646 (GRCm39) |
intron |
probably benign |
|
|
R0333:Tctn3
|
UTSW |
19 |
40,595,711 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0409:Tctn3
|
UTSW |
19 |
40,599,860 (GRCm39) |
splice site |
probably benign |
|
|
R1573:Tctn3
|
UTSW |
19 |
40,597,361 (GRCm39) |
nonsense |
probably null |
|
|
R2288:Tctn3
|
UTSW |
19 |
40,594,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3792:Tctn3
|
UTSW |
19 |
40,600,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3916:Tctn3
|
UTSW |
19 |
40,596,093 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4033:Tctn3
|
UTSW |
19 |
40,585,767 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4728:Tctn3
|
UTSW |
19 |
40,594,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5093:Tctn3
|
UTSW |
19 |
40,600,548 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5253:Tctn3
|
UTSW |
19 |
40,595,685 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5334:Tctn3
|
UTSW |
19 |
40,591,266 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5620:Tctn3
|
UTSW |
19 |
40,597,361 (GRCm39) |
nonsense |
probably null |
|
|
R6143:Tctn3
|
UTSW |
19 |
40,597,671 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6166:Tctn3
|
UTSW |
19 |
40,585,923 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7629:Tctn3
|
UTSW |
19 |
40,599,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8137:Tctn3
|
UTSW |
19 |
40,593,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8712:Tctn3
|
UTSW |
19 |
40,600,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8762:Tctn3
|
UTSW |
19 |
40,595,636 (GRCm39) |
missense |
unknown |
|
|
R9228:Tctn3
|
UTSW |
19 |
40,596,692 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9294:Tctn3
|
UTSW |
19 |
40,595,720 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9747:Tctn3
|
UTSW |
19 |
40,599,743 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
Z1088:Tctn3
|
UTSW |
19 |
40,595,790 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Posted On |
2012-12-06 |
Incidental Mutation