Mutagenetix > Incidental Mutation

Incidental Mutation 'R0648:Tctn1'

57338

Institutional Source

Beutler Lab

Gene Symbol

Tctn1

Ensembl Gene

ENSMUSG00000038593

Gene Name

tectonic family member 1

Synonyms

G730031O11Rik, Tect1

MMRRC Submission

038833-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0648 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122377558-122402557 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 122389761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 254 (E254K)

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: E254K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107367
Gene: ENSMUSG00000038593
AA Change: E254K

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

noncoding transcript
Transcript: ENSMUST00000120264

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137118

Predicted Effect

probably benign
Transcript: ENSMUST00000141281
AA Change: E254K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000114820
Gene: ENSMUSG00000038593
AA Change: E254K

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: ENSMUST00000176677

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177148

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (80/80)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	G	16: 20,184,632 (GRCm39)	V1009A	possibly damaging	Het
Acta2	T	C	19: 34,225,934 (GRCm39)	I87V	probably benign	Het
Arid1a	A	G	4: 133,412,515 (GRCm39)	Y1560H	unknown	Het
Bcor	C	T	X: 11,925,290 (GRCm39)	R102Q	probably damaging	Het
Camsap2	A	T	1: 136,232,057 (GRCm39)	D179E	probably damaging	Het
Ccdc168	A	G	1: 44,095,723 (GRCm39)	S1792P	possibly damaging	Het
Ccdc18	T	A	5: 108,283,426 (GRCm39)	S46T	probably damaging	Het
Ccdc18	A	C	5: 108,322,853 (GRCm39)	Q651P	probably damaging	Het
Cdc73	T	C	1: 143,571,200 (GRCm39)	T80A	probably benign	Het
Cdh20	T	A	1: 109,993,337 (GRCm39)		probably benign	Het
Cenpe	G	A	3: 134,935,843 (GRCm39)	G426D	probably damaging	Het
Cenpt	A	G	8: 106,571,592 (GRCm39)	V487A	probably damaging	Het
Clec2m	A	G	6: 129,307,932 (GRCm39)	F46L	probably benign	Het
Col4a1	G	A	8: 11,296,892 (GRCm39)	P84S	unknown	Het
Dennd2d	A	G	3: 106,407,871 (GRCm39)	I450M	probably damaging	Het
Dhps	C	A	8: 85,799,911 (GRCm39)		probably null	Het
Ebf1	A	T	11: 44,882,337 (GRCm39)	H431L	probably damaging	Het
Efcab6	A	G	15: 83,817,265 (GRCm39)		probably benign	Het
Egflam	T	C	15: 7,237,190 (GRCm39)	H990R	probably damaging	Het
Ercc6l2	A	G	13: 63,992,459 (GRCm39)	T303A	probably benign	Het
Fam167b	T	C	4: 129,472,150 (GRCm39)	K7E	probably benign	Het
Fgd3	T	C	13: 49,450,049 (GRCm39)	I67V	probably benign	Het
Fhip1a	A	C	3: 85,637,921 (GRCm39)	V126G	probably damaging	Het
Fn1	A	T	1: 71,636,744 (GRCm39)	V2045D	possibly damaging	Het
Gnl1	A	G	17: 36,293,490 (GRCm39)	N225S	probably damaging	Het
Gpx6	A	T	13: 21,503,047 (GRCm39)	N154Y	probably benign	Het
H2bc21	A	G	3: 96,128,851 (GRCm39)	S124G	probably benign	Het
Haus8	C	A	8: 71,709,174 (GRCm39)	G79V	probably damaging	Het
Hdgfl1	A	T	13: 26,953,836 (GRCm39)	L79Q	probably damaging	Het
Impdh2	T	C	9: 108,440,665 (GRCm39)	Y83H	probably benign	Het
Lama2	T	C	10: 26,865,372 (GRCm39)	T2929A	probably benign	Het
Lpin2	T	C	17: 71,536,307 (GRCm39)	S199P	probably benign	Het
Moap1	T	C	12: 102,708,776 (GRCm39)	T258A	probably benign	Het
Mrps35	C	A	6: 146,957,443 (GRCm39)	S156*	probably null	Het
Mrtfa	A	G	15: 80,901,121 (GRCm39)	S457P	probably damaging	Het
Mtbp	C	T	15: 55,466,597 (GRCm39)	P537S	probably benign	Het
Ncstn	C	A	1: 171,895,454 (GRCm39)	V565F	probably benign	Het
Nhsl1	A	G	10: 18,407,474 (GRCm39)	N1536S	possibly damaging	Het
Nkain4	T	C	2: 180,584,905 (GRCm39)	Q103R	possibly damaging	Het
Nsun2	T	A	13: 69,775,706 (GRCm39)	N383K	probably damaging	Het
Or13p4	C	T	4: 118,547,269 (GRCm39)	V127I	probably benign	Het
Or6c33	A	G	10: 129,853,350 (GRCm39)	N40S	probably damaging	Het
Parp1	C	T	1: 180,428,005 (GRCm39)		probably benign	Het
Pkd1	G	A	17: 24,813,911 (GRCm39)	R4125H	probably damaging	Het
Plxnd1	T	C	6: 115,970,962 (GRCm39)	I269V	possibly damaging	Het
Polr1f	C	T	12: 33,487,999 (GRCm39)	Q305*	probably null	Het
Ppp1r36dn	A	G	12: 76,498,070 (GRCm39)		noncoding transcript	Het
Qrich1	T	A	9: 108,422,076 (GRCm39)	N563K	probably damaging	Het
Rab3il1	TGAAG	TGAAGAAG	19: 10,004,752 (GRCm39)		probably benign	Het
Rell1	G	A	5: 64,082,088 (GRCm39)	T271M	probably benign	Het
Rgl1	A	G	1: 152,412,016 (GRCm39)		probably null	Het
Rph3a	C	T	5: 121,097,333 (GRCm39)	R261H	possibly damaging	Het
Ryr2	A	T	13: 11,739,219 (GRCm39)	M2161K	possibly damaging	Het
Scaf11	T	C	15: 96,316,339 (GRCm39)	N1075S	possibly damaging	Het
Serpina3j	A	G	12: 104,280,938 (GRCm39)	D37G	probably benign	Het
Siah2	A	G	3: 58,583,635 (GRCm39)	V217A	probably damaging	Het
Sik2	T	C	9: 50,810,045 (GRCm39)	D506G	probably benign	Het
Skap2	A	C	6: 51,856,765 (GRCm39)	V279G	probably benign	Het
Slc8a3	G	T	12: 81,361,220 (GRCm39)	T533N	probably damaging	Het
Slc9a7	A	T	X: 20,028,659 (GRCm39)		probably benign	Het
Snai3	G	T	8: 123,181,733 (GRCm39)	F241L	probably damaging	Het
Speg	T	C	1: 75,404,622 (GRCm39)	S2805P	probably benign	Het
Spink5	A	T	18: 44,132,864 (GRCm39)		probably benign	Het
Tdrd3	C	T	14: 87,709,618 (GRCm39)	T100M	probably damaging	Het
Tex47	T	C	5: 7,355,215 (GRCm39)	V132A	probably benign	Het
Thbs3	A	G	3: 89,123,972 (GRCm39)		probably null	Het
Tigit	T	A	16: 43,482,401 (GRCm39)	Y111F	probably damaging	Het
Tmem245	A	G	4: 56,906,270 (GRCm39)	I148T	probably benign	Het
Tmem97	A	G	11: 78,441,365 (GRCm39)	Y39H	probably benign	Het
Tnks2	T	A	19: 36,839,474 (GRCm39)		probably null	Het
Trp53bp1	A	G	2: 121,066,188 (GRCm39)	V846A	probably benign	Het
Tulp2	T	G	7: 45,169,210 (GRCm39)	I259S	probably damaging	Het
Ubxn1	G	A	19: 8,851,612 (GRCm39)	R215H	probably damaging	Het
Vmn1r17	A	G	6: 57,337,460 (GRCm39)	F253L	probably damaging	Het
Vmn2r10	T	C	5: 109,143,782 (GRCm39)	M723V	probably benign	Het
Xndc1	T	C	7: 101,728,031 (GRCm39)	V14A	possibly damaging	Het
Xpnpep1	A	G	19: 52,986,294 (GRCm39)		probably benign	Het
Yes1	T	A	5: 32,812,862 (GRCm39)	M322K	possibly damaging	Het
Zdhhc14	C	A	17: 5,543,877 (GRCm39)	N52K	probably benign	Het
Zfp42	A	G	8: 43,749,015 (GRCm39)	V162A	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
IGL02810:Tctn1	APN	5	122,380,664 (GRCm39)	splice site	probably null
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

Predicted Primers

PCR Primer
(F):5'- AGCCGCTCTCAAGACAAATGAAGG -3'
(R):5'- AGCATTTCTCAAGGCTTCGGCAG -3'

Sequencing Primer
(F):5'- TTCCTAAAGATCACTGAGCAGC -3'
(R):5'- actgtaactgtcttcagaccc -3'

Posted On

2013-07-11