Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01326:Tctn3'

74269

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) question?

Stock #

IGL01326

Quality Score

Status

Chromosome

Chromosomal Location

40584890-40600677 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40585880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 555 (L555P)

Ref Sequence

ENSEMBL: ENSMUSP00000025981 (fasta)

Gene Model

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

AlphaFold

Q8R2Q6

Predicted Effect

probably damaging
Transcript: ENSMUST00000025981
AA Change: L555P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025981
Gene: ENSMUSG00000025008
AA Change: L555P

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh1	G	A	3: 137,992,672 (GRCm39)	V263M	probably damaging	Het
Akap13	T	A	7: 75,375,096 (GRCm39)	H1909Q	probably benign	Het
Atg2b	C	T	12: 105,588,403 (GRCm39)	A1936T	probably damaging	Het
Atp8b3	G	T	10: 80,360,210 (GRCm39)	L954M	probably damaging	Het
C8a	T	C	4: 104,713,617 (GRCm39)	Y171C	probably damaging	Het
Cd6	A	G	19: 10,768,466 (GRCm39)	S508P	probably benign	Het
Cdk4	A	G	10: 126,900,492 (GRCm39)	D86G	possibly damaging	Het
Cdr2l	G	T	11: 115,281,796 (GRCm39)	R100S	probably benign	Het
Cndp1	T	A	18: 84,640,357 (GRCm39)	T283S	probably benign	Het
Cr2	T	C	1: 194,823,529 (GRCm39)	Y1023C	probably null	Het
Csmd3	A	G	15: 47,713,181 (GRCm39)	F1494L	probably benign	Het
Eeig2	A	G	3: 108,887,101 (GRCm39)	V299A	possibly damaging	Het
Eng	G	T	2: 32,562,394 (GRCm39)	G231W	probably benign	Het
Erp44	A	G	4: 48,218,126 (GRCm39)	V181A	probably benign	Het
Fkbp15	A	G	4: 62,241,487 (GRCm39)	S553P	probably damaging	Het
Glg1	A	G	8: 111,909,205 (GRCm39)	V495A	probably damaging	Het
Gm9631	A	T	11: 121,836,454 (GRCm39)	D28E	possibly damaging	Het
Gnptab	G	T	10: 88,268,927 (GRCm39)	L543F	probably damaging	Het
H4c3	A	T	13: 23,882,353 (GRCm39)	I27N	probably damaging	Het
Khdrbs2	T	G	1: 32,696,558 (GRCm39)	L329R	possibly damaging	Het
Kidins220	C	A	12: 25,088,498 (GRCm39)	H1080Q	probably damaging	Het
Maml1	G	A	11: 50,156,715 (GRCm39)	P487S	probably benign	Het
Me1	C	T	9: 86,480,771 (GRCm39)		probably null	Het
Morc2a	C	T	11: 3,631,775 (GRCm39)	R569C	probably benign	Het
Mrc1	A	G	2: 14,271,335 (GRCm39)	Q413R	probably damaging	Het
Mrgprx1	A	T	7: 47,671,517 (GRCm39)	C77S	probably benign	Het
Mtarc2	T	C	1: 184,566,048 (GRCm39)		probably benign	Het
Myo1d	A	T	11: 80,575,147 (GRCm39)		probably benign	Het
Nr4a1	T	G	15: 101,171,940 (GRCm39)	L538R	probably damaging	Het
Olfm1	T	C	2: 28,119,564 (GRCm39)	Y385H	probably damaging	Het
Or4a39	A	T	2: 89,236,675 (GRCm39)	F249L	possibly damaging	Het
Or5m9	A	G	2: 85,877,627 (GRCm39)	E267G	probably damaging	Het
Pkd1	T	A	17: 24,795,148 (GRCm39)	Y2278*	probably null	Het
Plcg2	T	C	8: 118,300,738 (GRCm39)		probably benign	Het
Prkdc	G	T	16: 15,647,556 (GRCm39)	C3660F	probably benign	Het
Ptpn11	T	C	5: 121,281,199 (GRCm39)	D493G	probably damaging	Het
Rad23b	T	A	4: 55,383,601 (GRCm39)	F278I	possibly damaging	Het
Saxo2	T	C	7: 82,297,613 (GRCm39)	I9V	probably benign	Het
Scn7a	T	C	2: 66,582,604 (GRCm39)	I98V	probably benign	Het
Serac1	T	A	17: 6,124,528 (GRCm39)		probably benign	Het
Simc1	T	C	13: 54,672,473 (GRCm39)	C274R	probably benign	Het
Sirt3	A	G	7: 140,444,006 (GRCm39)		probably benign	Het
Ttc14	A	G	3: 33,855,507 (GRCm39)	I151V	probably benign	Het
Ush2a	T	A	1: 187,995,518 (GRCm39)	Y96*	probably null	Het
Usp42	T	C	5: 143,706,970 (GRCm39)	T270A	possibly damaging	Het
Vmn1r31	A	G	6: 58,449,784 (GRCm39)	I27T	probably benign	Het
Vmn2r93	G	A	17: 18,536,906 (GRCm39)	A530T	possibly damaging	Het

Other mutations in Tctn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00776:Tctn3	APN	19	40,585,865 (GRCm39)	missense	probably damaging	0.99
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

2013-10-07