Incidental Mutation 'R2099:Tctn1'
ID |
233235 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tctn1
|
Ensembl Gene |
ENSMUSG00000038593 |
Gene Name |
tectonic family member 1 |
Synonyms |
G730031O11Rik, Tect1 |
MMRRC Submission |
040103-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2099 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
122377558-122402557 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 122380772 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 512
(P512L)
|
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 damaging
Transcript: ENSMUST00000111738
AA Change: P512L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107367 Gene: ENSMUSG00000038593 AA Change: P512L
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
G |
A |
17: 45,817,820 (GRCm39) |
R14Q |
unknown |
Het |
Aga |
C |
A |
8: 53,974,166 (GRCm39) |
Y286* |
probably null |
Het |
Anks1 |
T |
C |
17: 28,197,465 (GRCm39) |
|
probably null |
Het |
Arih2 |
A |
T |
9: 108,493,937 (GRCm39) |
F159I |
probably damaging |
Het |
Asxl1 |
A |
T |
2: 153,194,187 (GRCm39) |
M46L |
possibly damaging |
Het |
Atp23 |
G |
T |
10: 126,727,595 (GRCm39) |
|
probably null |
Het |
Carmil1 |
T |
A |
13: 24,357,650 (GRCm39) |
L66F |
probably benign |
Het |
Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
Cramp1 |
A |
G |
17: 25,192,059 (GRCm39) |
V1027A |
probably benign |
Het |
Cx3cr1 |
G |
A |
9: 119,881,339 (GRCm39) |
A21V |
probably benign |
Het |
Dcxr |
A |
G |
11: 120,616,403 (GRCm39) |
F221S |
probably damaging |
Het |
Dio2 |
T |
C |
12: 90,696,597 (GRCm39) |
*130W |
probably null |
Het |
Dnah2 |
T |
C |
11: 69,384,063 (GRCm39) |
D1051G |
probably damaging |
Het |
Ehbp1l1 |
T |
C |
19: 5,768,429 (GRCm39) |
E958G |
possibly damaging |
Het |
Eif3a |
C |
A |
19: 60,752,551 (GRCm39) |
|
probably benign |
Het |
Ephb2 |
T |
C |
4: 136,388,066 (GRCm39) |
D678G |
probably damaging |
Het |
Fpr3 |
G |
T |
17: 18,191,443 (GRCm39) |
R238L |
probably damaging |
Het |
Frem3 |
A |
G |
8: 81,342,488 (GRCm39) |
S1594G |
probably benign |
Het |
Gbp4 |
A |
C |
5: 105,268,947 (GRCm39) |
L402W |
probably damaging |
Het |
Gdpd5 |
T |
A |
7: 99,097,696 (GRCm39) |
L164Q |
probably damaging |
Het |
Il4i1 |
T |
C |
7: 44,487,616 (GRCm39) |
|
probably null |
Het |
Kcp |
G |
T |
6: 29,496,164 (GRCm39) |
C723* |
probably null |
Het |
Klhl18 |
A |
G |
9: 110,284,486 (GRCm39) |
F2L |
probably damaging |
Het |
Lepr |
T |
A |
4: 101,630,185 (GRCm39) |
D633E |
probably damaging |
Het |
Lifr |
A |
G |
15: 7,186,732 (GRCm39) |
I79V |
probably benign |
Het |
Mcrs1 |
A |
G |
15: 99,147,827 (GRCm39) |
S27P |
probably benign |
Het |
Mmp3 |
A |
G |
9: 7,453,672 (GRCm39) |
D431G |
probably benign |
Het |
Mtor |
T |
A |
4: 148,634,649 (GRCm39) |
Y2423* |
probably null |
Het |
Ndc80 |
A |
T |
17: 71,811,773 (GRCm39) |
D484E |
probably benign |
Het |
Ndufb8 |
T |
A |
19: 44,543,749 (GRCm39) |
|
probably benign |
Het |
Nmur2 |
A |
T |
11: 55,931,589 (GRCm39) |
S41T |
probably benign |
Het |
Notch2 |
T |
C |
3: 98,022,637 (GRCm39) |
C819R |
possibly damaging |
Het |
Or10d3 |
A |
G |
9: 39,461,963 (GRCm39) |
V68A |
probably benign |
Het |
Or4f7 |
A |
G |
2: 111,644,177 (GRCm39) |
I298T |
probably benign |
Het |
Or6c35 |
A |
T |
10: 129,169,152 (GRCm39) |
N134I |
probably damaging |
Het |
Pheta1 |
C |
T |
5: 121,991,349 (GRCm39) |
P237L |
possibly damaging |
Het |
Phip |
T |
C |
9: 82,797,392 (GRCm39) |
H537R |
possibly damaging |
Het |
Samd7 |
T |
C |
3: 30,810,709 (GRCm39) |
V242A |
probably benign |
Het |
Sde2 |
T |
C |
1: 180,693,713 (GRCm39) |
L401P |
probably damaging |
Het |
Slc20a1 |
A |
G |
2: 129,049,758 (GRCm39) |
D340G |
probably benign |
Het |
Slc2a5 |
T |
A |
4: 150,227,634 (GRCm39) |
Y484* |
probably null |
Het |
Spata31d1a |
A |
G |
13: 59,853,885 (GRCm39) |
L27P |
probably damaging |
Het |
Sqstm1 |
T |
C |
11: 50,093,811 (GRCm39) |
T269A |
possibly damaging |
Het |
Syne2 |
T |
C |
12: 76,026,747 (GRCm39) |
V3525A |
probably benign |
Het |
Tlr1 |
A |
G |
5: 65,082,411 (GRCm39) |
F722S |
probably damaging |
Het |
Treh |
A |
G |
9: 44,595,943 (GRCm39) |
Y376C |
probably damaging |
Het |
Trim47 |
T |
C |
11: 115,997,170 (GRCm39) |
N529S |
probably damaging |
Het |
Trrap |
T |
C |
5: 144,719,049 (GRCm39) |
V184A |
possibly damaging |
Het |
Tyrp1 |
T |
A |
4: 80,753,616 (GRCm39) |
N102K |
possibly damaging |
Het |
Uspl1 |
T |
A |
5: 149,151,568 (GRCm39) |
S724T |
probably damaging |
Het |
Vmn2r2 |
C |
A |
3: 64,024,474 (GRCm39) |
K702N |
probably damaging |
Het |
Zfp267 |
C |
T |
3: 36,218,361 (GRCm39) |
T128I |
possibly 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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTCCCAGGTGAAGAACAGG -3'
(R):5'- AGTTGCCTGTACCTGAACTTG -3'
Sequencing Primer
(F):5'- GTCTACGAAGAGTTTCAGGACATCC -3'
(R):5'- CCTGTACCTGAACTTGTATGGCG -3'
|
Posted On |
2014-09-18 |