Mutagenetix > Incidental Mutation

Incidental Mutation 'R4033:Tctn3'

313609

Institutional Source

Beutler Lab

Gene Symbol

Tctn3

Ensembl Gene

ENSMUSG00000025008

Gene Name

tectonic family member 3

Synonyms

4930521E07Rik, Tect3

MMRRC Submission

040961-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4033 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40584890-40600677 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 40585767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 593 (Q593K)

Ref Sequence

ENSEMBL: ENSMUSP00000025981 (fasta)

Gene Model

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

AlphaFold

Q8R2Q6

Predicted Effect

probably benign
Transcript: ENSMUST00000025981
AA Change: Q593K

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000025981
Gene: ENSMUSG00000025008
AA Change: Q593K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

100% (47/47)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	C	G	8: 44,079,710 (GRCm39)	M171I	probably benign	Het
Als2	G	T	1: 59,235,400 (GRCm39)	S761R	probably benign	Het
Ankrd63	C	A	2: 118,533,412 (GRCm39)		probably benign	Het
Brf1	G	A	12: 112,943,352 (GRCm39)	T166M	probably damaging	Het
Car9	T	C	4: 43,508,624 (GRCm39)	V131A	possibly damaging	Het
Cerk	T	G	15: 86,039,228 (GRCm39)	H221P	possibly damaging	Het
Cfap69	A	T	5: 5,654,389 (GRCm39)	I458N	possibly damaging	Het
Chil4	T	C	3: 106,121,765 (GRCm39)	Y28C	probably damaging	Het
Cracd	A	G	5: 77,006,312 (GRCm39)	N891S	unknown	Het
Dmxl1	A	G	18: 49,984,498 (GRCm39)	T165A	possibly damaging	Het
Erich6b	A	T	14: 75,896,207 (GRCm39)	N31I	probably benign	Het
Fgf17	G	T	14: 70,878,966 (GRCm39)		probably benign	Het
Fhit	A	T	14: 10,751,671 (GRCm38)		probably benign	Het
Fnip1	A	T	11: 54,393,297 (GRCm39)	I578L	probably benign	Het
Gm17641	C	T	3: 68,777,146 (GRCm39)	R36W	probably damaging	Het
Gprin2	A	T	14: 33,916,635 (GRCm39)	D378E	probably benign	Het
Grhl3	T	A	4: 135,300,735 (GRCm39)	M1L	probably benign	Het
Hsp90aa1	T	A	12: 110,662,114 (GRCm39)	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,662,115 (GRCm39)		probably null	Het
Ifih1	G	A	2: 62,465,534 (GRCm39)	S212L	probably benign	Het
Iqck	T	C	7: 118,540,827 (GRCm39)	I242T	probably damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Lsm14b	A	G	2: 179,673,309 (GRCm39)	K195E	probably benign	Het
Mical1	G	A	10: 41,357,172 (GRCm39)	V326I	probably benign	Het
Mtnr1b	A	T	9: 15,774,830 (GRCm39)	N76K	probably damaging	Het
Nalcn	T	C	14: 123,837,401 (GRCm39)		probably benign	Het
Nop14	T	C	5: 34,807,861 (GRCm39)	D367G	probably benign	Het
Nrxn3	T	C	12: 89,499,771 (GRCm39)	C721R	probably damaging	Het
Or51e1	C	T	7: 102,358,697 (GRCm39)	T77I	probably damaging	Het
Prr27	G	T	5: 87,991,164 (GRCm39)	E259*	probably null	Het
Psmg3	G	A	5: 139,812,086 (GRCm39)	P5S	probably damaging	Het
Pxdn	A	G	12: 30,053,224 (GRCm39)	T1134A	probably benign	Het
Rbm28	T	C	6: 29,159,668 (GRCm39)	N120S	probably damaging	Het
Reg3b	A	T	6: 78,350,192 (GRCm39)	K157N	possibly damaging	Het
Rlf	T	G	4: 121,004,540 (GRCm39)	Q1480P	probably damaging	Het
Slc16a12	A	T	19: 34,652,567 (GRCm39)	L193Q	probably damaging	Het
Smo	G	A	6: 29,759,917 (GRCm39)	R672H	probably damaging	Het
Smyd4	A	G	11: 75,240,580 (GRCm39)	D25G	probably benign	Het
Sorbs2	C	G	8: 46,228,632 (GRCm39)	D264E	probably damaging	Het
Tdrd9	A	T	12: 111,958,973 (GRCm39)	I136L	possibly damaging	Het
Tshz3	G	A	7: 36,470,009 (GRCm39)	S666N	possibly damaging	Het
Ubn1	C	T	16: 4,882,475 (GRCm39)	T69M	probably damaging	Het
Unk	A	T	11: 115,944,353 (GRCm39)	H368L	probably benign	Het
Zan	A	T	5: 137,436,122 (GRCm39)	L2051*	probably null	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
IGL01326:Tctn3	APN	19	40,585,880 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GCGTACCATCTTCAGTTCATAAAG -3'
(R):5'- TGGACATTACCCAGAAGCCAG -3'

Sequencing Primer
(F):5'- AAAATCTCTGTGCGCCTGAG -3'
(R):5'- AGAAGCCAGAGCCTCCTAGG -3'

Posted On

2015-04-30