Mutagenetix > Incidental Mutations

Incidental Mutation 'R3916:Tctn3'

309784

Institutional Source

Beutler Lab

Gene Symbol

Tctn3

Ensembl Gene

ENSMUSG00000025008

Gene Name

tectonic family member 3

Synonyms

4930521E07Rik, Tect3

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3916 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40596446-40612233 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40607649 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 305 (T305S)

Ref Sequence

ENSEMBL: ENSMUSP00000121760 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025981] [ENSMUST00000132452] [ENSMUST00000134063] [ENSMUST00000135795]

Predicted Effect

probably benign
Transcript: ENSMUST00000025981
AA Change: T305S

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000025981
Gene: ENSMUSG00000025008
AA Change: T305S

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

possibly damaging
Transcript: ENSMUST00000132452
AA Change: T305S

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000121760
Gene: ENSMUSG00000025008
AA Change: T305S

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:DUF1619	78	364	3e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134063

SMART Domains

Protein: ENSMUSP00000116285
Gene: ENSMUSG00000048120

Domain	Start	End	E-Value	Type
Pfam:GDA1_CD39	69	500	6.9e-170	PFAM
transmembrane domain	506	528	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135795
AA Change: T305S

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000123461
Gene: ENSMUSG00000025008
AA Change: T305S

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:DUF1619	78	379	2.5e-82	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144566

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160286

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163023

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	G	2: 68,731,985	F319V	possibly damaging	Het
Acad12	A	G	5: 121,599,214	V498A	probably damaging	Het
Adam19	A	G	11: 46,060,935	E37G	probably benign	Het
Anks3	A	G	16: 4,947,279	Y423H	probably damaging	Het
Arfgef1	A	T	1: 10,189,443	V600D	probably benign	Het
Arhgef18	T	C	8: 3,454,197	F939L	probably benign	Het
Arhgef2	A	G	3: 88,633,033	N127S	probably damaging	Het
Arid1b	A	G	17: 5,342,653	S2100G	probably benign	Het
Atp1b2	A	G	11: 69,603,075	V93A	probably damaging	Het
Atrnl1	T	C	19: 57,935,652	V1283A	possibly damaging	Het
Bpifb5	A	C	2: 154,228,181	K184Q	probably benign	Het
Cadps	C	T	14: 12,457,702	A1060T	probably benign	Het
Cant1	A	G	11: 118,408,746	V259A	probably damaging	Het
Ccdc89	A	G	7: 90,426,825	D81G	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cntnap4	C	G	8: 112,875,533	P1190A	probably benign	Het
Colgalt2	T	A	1: 152,508,611	Y567*	probably null	Het
Cyp4f18	A	T	8: 71,996,037	F256Y	probably benign	Het
Ddx41	G	A	13: 55,534,480	R205W	possibly damaging	Het
Dopey1	G	A	9: 86,521,133	R1462H	probably damaging	Het
Dync1i2	A	G	2: 71,249,372	T377A	probably damaging	Het
F2	G	A	2: 91,625,488	T600M	probably damaging	Het
Fam91a1	C	T	15: 58,430,734	H308Y	probably damaging	Het
Fkbp2	C	A	19: 6,978,557		probably null	Het
Gabarapl2	T	A	8: 111,952,396	F115L	probably benign	Het
Heatr3	T	G	8: 88,150,371		probably null	Het
Ifi204	T	G	1: 173,755,775	K292N	possibly damaging	Het
Itpkc	A	T	7: 27,228,303	I62N	probably benign	Het
Kcnab1	G	A	3: 65,304,164		probably null	Het
Krt88	G	A	15: 101,452,928		probably null	Het
Larp4	C	T	15: 99,990,403	T107I	probably benign	Het
Lmo7	T	C	14: 101,929,342		probably benign	Het
Lrrc37a	T	C	11: 103,455,518	Y3174C	possibly damaging	Het
Lyzl4	T	A	9: 121,583,035	D105V	probably damaging	Het
Mst1	A	G	9: 108,084,295	I575V	probably benign	Het
Myh7	C	A	14: 54,974,046	E1555D	probably damaging	Het
Nwd1	T	A	8: 72,667,811	C608*	probably null	Het
Obox3	C	A	7: 15,627,226	C38F	probably benign	Het
P4ha2	A	G	11: 54,126,248	D441G	probably benign	Het
Pcdhb14	A	T	18: 37,448,545	I235F	possibly damaging	Het
Rasgrf2	A	G	13: 92,030,788	V259A	probably damaging	Het
Scn1a	T	C	2: 66,277,613	T1590A	probably damaging	Het
Sdk1	T	A	5: 142,051,244	D817E	probably damaging	Het
Sema3b	A	G	9: 107,600,458	F482S	probably damaging	Het
Slc35a5	G	C	16: 45,158,158		probably benign	Het
Slc6a3	A	G	13: 73,562,308	I346V	probably benign	Het
Slu7	G	T	11: 43,440,684		probably null	Het
Spns1	A	T	7: 126,371,539		probably null	Het
Supv3l1	T	C	10: 62,449,420	D89G	possibly damaging	Het
Taf1c	G	A	8: 119,600,505	R412W	probably damaging	Het
Tekt1	A	G	11: 72,345,748	I296T	possibly damaging	Het
Tet2	T	C	3: 133,486,055	K873E	possibly damaging	Het
Thada	G	A	17: 84,441,782	A587V	possibly damaging	Het
Tmprss15	T	A	16: 78,985,996	N712Y	probably damaging	Het
Tnks	A	G	8: 34,853,361	S719P	probably damaging	Het
Tnrc6a	A	C	7: 123,181,384	Q1332H	probably damaging	Het
Trpv3	A	G	11: 73,283,734	D309G	possibly damaging	Het
Tti2	A	G	8: 31,153,519	K221E	possibly damaging	Het
Uba5	A	T	9: 104,054,190	C227S	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Unc80	T	C	1: 66,677,495	C2925R	probably benign	Het
Vmn2r83	G	A	10: 79,478,910	G331R	probably benign	Het
Xirp2	G	T	2: 67,511,422	V1336F	probably benign	Het
Zbed5	T	C	5: 129,902,277	Y356H	possibly damaging	Het

Other mutations in Tctn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00776:Tctn3	APN	19	40597421	missense	probably damaging	0.99
IGL01326:Tctn3	APN	19	40597436	missense	probably damaging	1.00
IGL01351:Tctn3	APN	19	40607637	missense	probably benign	0.00
IGL01604:Tctn3	APN	19	40605302	splice site	probably null
IGL01844:Tctn3	APN	19	40612137	missense	probably damaging	0.99
IGL02469:Tctn3	APN	19	40597523	missense	probably benign	0.01
FR4449:Tctn3	UTSW	19	40607202	intron	probably benign
R0333:Tctn3	UTSW	19	40607267	missense	possibly damaging	0.86
R0409:Tctn3	UTSW	19	40611416	splice site	probably benign
R1573:Tctn3	UTSW	19	40608917	nonsense	probably null
R2288:Tctn3	UTSW	19	40605713	missense	probably damaging	1.00
R3792:Tctn3	UTSW	19	40611711	missense	probably benign	0.00
R4033:Tctn3	UTSW	19	40597323	missense	probably benign	0.23
R4728:Tctn3	UTSW	19	40605742	missense	probably damaging	1.00
R5093:Tctn3	UTSW	19	40612104	missense	probably damaging	0.99
R5253:Tctn3	UTSW	19	40607241	missense	probably benign	0.25
R5334:Tctn3	UTSW	19	40602822	missense	probably benign	0.16
R5620:Tctn3	UTSW	19	40608917	nonsense	probably null
R6143:Tctn3	UTSW	19	40609227	missense	probably benign	0.03
R6166:Tctn3	UTSW	19	40597479	missense	possibly damaging	0.92
R7629:Tctn3	UTSW	19	40611336	missense	probably damaging	1.00
R8137:Tctn3	UTSW	19	40605341	missense	probably damaging	1.00
Z1088:Tctn3	UTSW	19	40607346	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- GTTTAGCACAGAAGACTCTCCAG -3'
(R):5'- AAGTTGTCTGGCAGTGGAAG -3'

Sequencing Primer
(F):5'- AGTCTGTGTTTTAACTGCAAGCC -3'
(R):5'- ATGGTTCAGGAGAAAGCAAACCATTC -3'

Posted On

2015-04-17