Mutagenetix > Incidental Mutation

Incidental Mutation 'R9146:Tctn1'

694633

Institutional Source

Beutler Lab

Gene Symbol

Tctn1

Ensembl Gene

ENSMUSG00000038593

Gene Name

tectonic family member 1

Synonyms

G730031O11Rik, Tect1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9146 (G1)

Quality Score

141.008

Status

Validated

Chromosome

Chromosomal Location

122377558-122402557 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122389745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 259 (V259A)

Ref Sequence

ENSEMBL: ENSMUSP00000107367 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111738] [ENSMUST00000141281]

AlphaFold

Q8BZ64

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111738
AA Change: V259A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107367
Gene: ENSMUSG00000038593
AA Change: V259A

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

possibly damaging
Transcript: ENSMUST00000141281
AA Change: V259A

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114820
Gene: ENSMUSG00000038593
AA Change: V259A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (54/55)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ache	G	A	5: 137,289,077 (GRCm39)	G261D	probably damaging	Het
Adgrv1	T	A	13: 81,561,291 (GRCm39)	T5408S	probably benign	Het
Aff3	T	C	1: 38,359,200 (GRCm39)	N362D	probably benign	Het
Aff4	A	G	11: 53,298,963 (GRCm39)	N956S	probably benign	Het
Alg10b	A	G	15: 90,112,401 (GRCm39)	E415G	probably damaging	Het
Ate1	T	C	7: 130,069,022 (GRCm39)	Y415C	probably damaging	Het
Cage1	T	C	13: 38,207,005 (GRCm39)	D280G	probably benign	Het
Catsperg1	G	C	7: 28,909,912 (GRCm39)	P72R	probably benign	Het
Cep290	A	G	10: 100,377,665 (GRCm39)	E1565G	probably benign	Het
Csmd1	T	A	8: 16,048,832 (GRCm39)	Y2290F	probably benign	Het
Cyp2c39	A	T	19: 39,527,344 (GRCm39)	H230L		Het
Efhb	A	G	17: 53,769,644 (GRCm39)	S222P	probably benign	Het
Emilin2	G	A	17: 71,581,331 (GRCm39)	T465M	probably damaging	Het
Ep400	A	T	5: 110,849,635 (GRCm39)	Y1431*	probably null	Het
Gm10912	T	C	2: 103,897,053 (GRCm39)	V64A	possibly damaging	Het
Gpat2	T	C	2: 127,273,206 (GRCm39)	S197P	possibly damaging	Het
Hc	T	C	2: 34,924,571 (GRCm39)	Y452C	probably damaging	Het
Hectd4	T	C	5: 121,487,097 (GRCm39)	I3364T	probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Hmcn1	G	A	1: 150,474,141 (GRCm39)	T4767M	probably benign	Het
Hspa4l	A	G	3: 40,736,101 (GRCm39)	D595G	probably benign	Het
Kdm1a	G	T	4: 136,329,739 (GRCm39)	T53K	unknown	Het
Kirrel1	T	C	3: 87,003,015 (GRCm39)	D126G	probably damaging	Het
Kit	T	A	5: 75,810,305 (GRCm39)	D822E	probably damaging	Het
Kiz	C	T	2: 146,705,740 (GRCm39)	T100M	probably benign	Het
Kmt2a	T	A	9: 44,725,938 (GRCm39)	K3663*	probably null	Het
Krt8	T	A	15: 101,907,370 (GRCm39)	I238F	probably damaging	Het
Ky	C	T	9: 102,419,405 (GRCm39)	P471S		Het
Lca5l	T	C	16: 95,960,998 (GRCm39)	E493G	probably damaging	Het
Lrrc2	C	T	9: 110,808,582 (GRCm39)	T273I	probably damaging	Het
Mcoln2	T	C	3: 145,869,303 (GRCm39)	S31P	probably benign	Het
Mmp1a	A	G	9: 7,464,997 (GRCm39)	D77G	probably damaging	Het
Mrgprb8	T	A	7: 48,039,200 (GRCm39)	C290*	probably null	Het
Nfe2l3	G	T	6: 51,410,172 (GRCm39)	A96S	probably damaging	Het
Notch2	A	G	3: 98,011,854 (GRCm39)	D624G	probably damaging	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or52n2	T	A	7: 104,542,452 (GRCm39)	I128F	probably damaging	Het
Or6c7	T	C	10: 129,323,392 (GRCm39)	V171A	possibly damaging	Het
Pcdh10	G	A	3: 45,334,351 (GRCm39)	A222T	probably benign	Het
Piezo1	G	A	8: 123,227,002 (GRCm39)	H420Y		Het
Pik3r1	C	A	13: 101,825,136 (GRCm39)		probably benign	Het
Plcb1	T	A	2: 135,182,615 (GRCm39)	Y642N	probably damaging	Het
Ralgapa2	T	A	2: 146,184,252 (GRCm39)	H1538L	probably benign	Het
Raph1	A	G	1: 60,558,137 (GRCm39)		probably null	Het
Rnf213	T	C	11: 119,334,499 (GRCm39)	F3237S		Het
Sctr	A	G	1: 119,982,010 (GRCm39)	D286G	probably damaging	Het
Smyd3	A	G	1: 178,920,529 (GRCm39)	S202P	probably damaging	Het
Ssh2	G	A	11: 77,328,502 (GRCm39)	G356E	probably damaging	Het
Stat3	A	T	11: 100,784,492 (GRCm39)	S629R	probably benign	Het
Stc2	A	G	11: 31,317,847 (GRCm39)	V58A	probably damaging	Het
Tcerg1l	T	A	7: 137,831,588 (GRCm39)	D463V	probably damaging	Het
Tmem248	A	G	5: 130,260,851 (GRCm39)	T139A	probably benign	Het
Trip12	G	T	1: 84,771,881 (GRCm39)	A89E	possibly damaging	Het
Vmn2r54	C	T	7: 12,366,647 (GRCm39)	V96I	probably benign	Het
Vmn2r79	C	T	7: 86,650,681 (GRCm39)	Q156*	probably null	Het
Zfp831	C	A	2: 174,487,461 (GRCm39)	T712N	possibly damaging	Het
Zfy1	A	T	Y: 726,033 (GRCm39)	H577Q	possibly damaging	Het
Zscan4-ps2	T	G	7: 11,251,679 (GRCm39)	S238R	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
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
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'- TCCTAAAGATCACTGAGCAGCC -3'
(R):5'- GGAGACACTTGCTGCTTTTG -3'

Sequencing Primer
(F):5'- TCACTGAGCAGCCACCGATAC -3'
(R):5'- TTTGAACTCAGGACCTCTGGAAG -3'

Posted On

2022-01-20