Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4449:Tctn3'

511559

Institutional Source

Beutler Lab

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 #

FR4449 ()

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

40584890-40600677 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

AG to AGAAGCCG at 40595646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123461 (fasta)

Gene Model

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

AlphaFold

Q8R2Q6

Predicted Effect

probably benign
Transcript: ENSMUST00000025981

SMART Domains

Protein: ENSMUSP00000025981
Gene: ENSMUSG00000025008

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

probably benign
Transcript: ENSMUST00000132452

SMART Domains

Protein: ENSMUSP00000121760
Gene: ENSMUSG00000025008

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: ENSMUST00000135795

SMART Domains

Protein: ENSMUSP00000123461
Gene: ENSMUSG00000025008

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

Coding Region Coverage

1x: 99.7%
3x: 99.5%
10x: 98.3%
20x: 95.8%

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: 128 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	GGTATTGCATTTCTTATCT	G	5: 4,031,214 (GRCm39)		probably benign	Homo
Amfr	C	G	8: 94,731,787 (GRCm39)	G30R	probably damaging	Homo
Anxa7	C	T	14: 20,519,479 (GRCm39)	G113E	probably damaging	Homo
Apc	AGC	AGCCAATAACGC	18: 34,415,058 (GRCm39)		probably benign	Het
Apc	AATAAAGC	AATAAAGCCGATAAAGC	18: 34,415,053 (GRCm39)		probably benign	Het
Apol6	TTT	TTTGATT	15: 76,935,643 (GRCm39)		probably null	Homo
Arid1b	CGG	CGGTGG	17: 5,045,864 (GRCm39)		probably benign	Het
B430218F22Rik	CGGCG	CGGCGATGGCG	13: 118,523,387 (GRCm39)		probably benign	Homo
Blm	CCTCCTCCTCCTCCTCCTCCTCCT	CCTCCTCCTCCTTCTCCTCCTCCTCCTCCTCCTCCT	7: 80,162,656 (GRCm39)		probably benign	Het
Brd2	CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CAAAAAAAAAAAAAAA	17: 34,335,310 (GRCm39)		probably benign	Het
Btnl10	AAG	AAGGAG	11: 58,814,754 (GRCm39)		probably benign	Homo
Cacna1a	ACC	ACCCCC	8: 85,365,343 (GRCm39)		probably benign	Het
Cacna1a	ACC	ACCGCC	8: 85,365,352 (GRCm39)		probably benign	Het
Cacna1a	ACC	ACCCCC	8: 85,365,349 (GRCm39)		probably benign	Het
Calhm1	TGGC	TGGCTGTGGCTGCGGC	19: 47,129,713 (GRCm39)		probably benign	Het
Ccdc15	C	CTTTAT	9: 37,226,454 (GRCm39)		probably null	Het
Ccdc85c	CCG	CCGACG	12: 108,240,875 (GRCm39)		probably benign	Het
Ccnk	TTCCCAC	T	12: 108,168,766 (GRCm39)		probably benign	Het
Cdhr2	AGTC	AGTCGTC	13: 54,873,737 (GRCm39)		probably benign	Homo
Cdk15	A	ATCTAAAAGG	1: 59,296,982 (GRCm39)		probably benign	Homo
Cdx1	GCTG	GCTGCTCCTG	18: 61,152,953 (GRCm39)		probably benign	Het
Cfap46	T	C	7: 139,218,711 (GRCm39)		probably benign	Homo
Cgref1	TTC	TTCGTC	5: 31,091,120 (GRCm39)		probably benign	Het
Cgref1	CTT	CTTATT	5: 31,091,122 (GRCm39)		probably null	Homo
Cluh	G	GACTGAA	11: 74,560,358 (GRCm39)		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,080,395 (GRCm39)		probably benign	Het
Cntnap1	AGCC	AGCCCCCGCC	11: 101,080,419 (GRCm39)		probably benign	Het
Cpne1	CCTACT	CCT	2: 155,915,422 (GRCm39)		probably benign	Homo
Cracdl	T	A	1: 37,664,116 (GRCm39)	E594V	probably benign	Homo
Cracdl	C	A	1: 37,664,117 (GRCm39)	E594*	probably null	Homo
Cttnbp2	CTGCTG	CTGCTGTTGCTG	6: 18,367,461 (GRCm39)		probably benign	Het
Cul9	TCC	TCCGCC	17: 46,811,782 (GRCm39)		probably benign	Het
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,465,739 (GRCm39)		probably benign	Het
Dbr1	GGAGGA	GGAGGAAGAGGA	9: 99,465,749 (GRCm39)		probably benign	Het
Dbr1	AGGAGG	AGGAGGGGGAGG	9: 99,465,727 (GRCm39)		probably benign	Het
Dhx8	CG	CGAGACAG	11: 101,629,020 (GRCm39)		probably benign	Homo
Dhx8	CG	CGAGACAG	11: 101,629,032 (GRCm39)		probably benign	Het
Dhx8	G	GAGACCC	11: 101,629,033 (GRCm39)		probably benign	Het
Dhx8	AGACCG	AGACCGTGACCG	11: 101,629,010 (GRCm39)		probably benign	Homo
Dhx8	AGACCGGGACCGGGACCGGGACCGGGAC	AGACCGGGACCGGGAC	11: 101,629,016 (GRCm39)		probably benign	Het
Dspp	CGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAG	CGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAG	5: 104,326,254 (GRCm39)		probably benign	Het
Dusp10	G	T	1: 183,769,253 (GRCm39)	C73F	probably damaging	Homo
Erich3	GA	GAGAA	3: 154,469,150 (GRCm39)		probably benign	Homo
Ermn	CTT	CTTGTT	2: 57,938,086 (GRCm39)		probably benign	Het
Fgd6	GGAT	G	10: 93,880,182 (GRCm39)		probably benign	Homo
G530012D18Rik	GAGAGAGAGAGAGAGAGACAGAGA	GAGAGA	1: 85,504,901 (GRCm39)		probably benign	Homo
Gar1	GCCGCCTCCGCC	GCCGCC	3: 129,624,353 (GRCm39)		probably benign	Homo
Gatad2b	AGAC	A	3: 90,249,224 (GRCm39)		probably benign	Het
Gigyf2	C	T	1: 87,356,307 (GRCm39)		probably benign	Het
Gm16519	A	AGAT	17: 71,236,333 (GRCm39)		probably benign	Homo
Gm4340	AGC	AGCGGC	10: 104,031,946 (GRCm39)		probably benign	Het
Gm4340	GCA	GCATCA	10: 104,031,947 (GRCm39)		probably benign	Het
Gm4340	AGC	AGCGGC	10: 104,031,943 (GRCm39)		probably benign	Het
Gpatch11	AGGAAG	AGGAAGCGGAAG	17: 79,149,597 (GRCm39)		probably benign	Het
Gpatch11	GAAGAG	GAAGAGCAAGAG	17: 79,149,605 (GRCm39)		probably benign	Het
Gpatch11	GG	GGCAGACG	17: 79,149,610 (GRCm39)		probably benign	Het
Hoxa10	T	A	6: 52,211,166 (GRCm39)	Q250L	possibly damaging	Homo
Igkv12-89	GCA	GCAGCAGCAACA	6: 68,812,264 (GRCm39)		probably benign	Homo
Igsf10	G	A	3: 59,226,531 (GRCm39)	R2381C	probably damaging	Homo
Il17rd	GGC	GGCAGC	14: 26,804,635 (GRCm39)		probably benign	Het
Ints5	G	A	19: 8,874,594 (GRCm39)	R851Q	probably benign	Het
Isg20l2	AGA	AGAGGA	3: 87,839,020 (GRCm39)		probably benign	Het
Kcng4	G	T	8: 120,360,258 (GRCm39)	Y39*	probably null	Homo
Kifc5b	A	C	17: 27,143,191 (GRCm39)	E321A	probably benign	Het
Klra2	TCCACAG	TCCACAGAAACCCACAG	6: 131,198,809 (GRCm39)		probably null	Homo
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,285,794 (GRCm39)		probably benign	Het
Kmt2b	CCTCCT	CCTCCTGCTCCT	7: 30,285,786 (GRCm39)		probably benign	Het
Kmt2b	TCCTCC	TCCTCCACCTCC	7: 30,285,791 (GRCm39)		probably benign	Het
Krt10	ACC	ACCACCTCC	11: 99,280,093 (GRCm39)		probably benign	Het
Las1l	GA	GAGAA	X: 94,984,438 (GRCm39)		probably benign	Het
Lce1m	AC	ACTGCTGCTGCCGC	3: 92,925,459 (GRCm39)		probably benign	Het
Leo1	GTACCATGCA	G	9: 75,357,855 (GRCm39)		probably benign	Het
Lkaaear1	CA	CATCTCCAGCTCTA	2: 181,339,364 (GRCm39)		probably benign	Het
Maml2	ACAGCAGCAGCAACAGCAGCAGCAGCAGCA	ACAGCAACAGCAGCAGCAGCAGCA	9: 13,532,752 (GRCm39)		probably benign	Homo
Med12l	CAG	CAGTAG	3: 59,183,384 (GRCm39)		probably null	Het
Mgat4e	GTCGTAGTCATCGT	GTCGT	1: 134,468,735 (GRCm39)		probably benign	Homo
Mn1	GCA	GCAACA	5: 111,567,576 (GRCm39)		probably benign	Het
Morn4	AGGCAGTGAG	AGGCAGTGAGTCTGGCAGTGAG	19: 42,064,548 (GRCm39)		probably benign	Het
Nat8f2	T	A	6: 85,844,668 (GRCm39)	L231F	possibly damaging	Homo
Noc2l	C	CTGA	4: 156,324,558 (GRCm39)		probably benign	Het
Nrg3	T	TAGACAC	14: 38,119,228 (GRCm39)		probably benign	Het
Or8b41	A	G	9: 38,054,484 (GRCm39)	I13V	probably benign	Homo
Piezo1	G	A	8: 123,222,308 (GRCm39)	R503W	probably damaging	Homo
Pih1d2	CTCTTGCGAGGATC	CTC	9: 50,532,927 (GRCm39)		probably null	Homo
Pik3ap1	G	GGAA	19: 41,270,385 (GRCm39)		probably benign	Het
Ppp1r3f	C	A	X: 7,426,575 (GRCm39)	G562V	probably damaging	Homo
Ptms	TTC	TTCGTC	6: 124,891,422 (GRCm39)		probably benign	Het
Ptpn23	G	T	9: 110,216,701 (GRCm39)	P1052T	probably benign	Homo
Qrich2	AACT	A	11: 116,347,025 (GRCm39)		probably benign	Homo
Raet1d	A	ATATCCTCTCTGG	10: 22,246,814 (GRCm39)		probably benign	Het
Rbm33	AGCAGCAGCAGCACCAGCCGCAGCAGCAGCA	AGCAGCAGCAGCA	5: 28,599,166 (GRCm39)		probably benign	Homo
Rrbp1	TGCTTCTCAAAGGTGGCTGCCTTGGCTTC	TGCTTC	2: 143,809,376 (GRCm39)		probably null	Het
Sbp	CAACAAAGATGCTGA	CAACAAAGATGCTGAGAACAAAGATGCTGA	17: 24,164,338 (GRCm39)		probably benign	Het
Setd1a	G	A	7: 127,384,498 (GRCm39)		probably benign	Het
Sfswap	CCCACTCAG	CCCACTCAGTCCACTCAG	5: 129,646,812 (GRCm39)		probably benign	Het
Sfswap	CCACTCAGC	CCACTCAGCTCACTCAGC	5: 129,646,813 (GRCm39)		probably benign	Het
Sh3pxd2b	T	TGTCTGC	11: 32,373,065 (GRCm39)		probably benign	Homo
Six3	CGG	CGGGGG	17: 85,928,790 (GRCm39)		probably benign	Het
Slc12a1	C	CTTTGGCCACAACACG	2: 124,996,136 (GRCm39)		probably benign	Homo
Slc26a8	CTCTCTG	C	17: 28,857,290 (GRCm39)		probably benign	Het
Spata31h1	TTCAGT	TT	10: 82,121,303 (GRCm39)		probably null	Homo
Srebf2	G	T	15: 82,069,536 (GRCm39)	A693S	probably damaging	Homo
Sry	TGCTG	TGCTGCTG	Y: 2,662,832 (GRCm39)		probably benign	Homo
Sry	ACTG	ACTGCTG	Y: 2,662,818 (GRCm39)		probably benign	Het
Ston1	G	A	17: 88,942,953 (GRCm39)	V120M	probably benign	Homo
Supt20	CAGCAG	CAGCAGGAGCAG	3: 54,635,070 (GRCm39)		probably benign	Het
Tbl3	TG	TGTGG	17: 24,921,518 (GRCm39)		probably benign	Homo
Tesk1	CCC	CCCACC	4: 43,447,002 (GRCm39)		probably benign	Homo
Tmc2	T	G	2: 130,082,116 (GRCm39)	V433G	probably damaging	Het
Tmprss13	G	A	9: 45,239,856 (GRCm39)	A55T	unknown	Het
Tnfaip8	ACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	AC	18: 50,179,906 (GRCm39)		probably null	Homo
Tob1	CAG	CAGAAG	11: 94,105,294 (GRCm39)		probably benign	Het
Tob1	AGC	AGCCGC	11: 94,105,301 (GRCm39)		probably benign	Het
Tpsab1	TTGCACCTCCT	TT	17: 25,562,756 (GRCm39)		probably benign	Homo
Triobp	GTC	GTCTTC	15: 78,877,589 (GRCm39)		probably benign	Het
Ubtf	CCT	CCTACT	11: 102,197,774 (GRCm39)		probably null	Het
Vps13b	G	T	15: 35,847,103 (GRCm39)	A2629S	probably damaging	Homo
Xpnpep3	G	C	15: 81,311,623 (GRCm39)	D110H	possibly damaging	Het
Zc3h13	CGAGATGTG	CGAGATGTGTGAGATGTG	14: 75,561,041 (GRCm39)		probably null	Homo
Zfhx3	GCAACAGCA	GCAACAGCAACAACAGCA	8: 109,682,726 (GRCm39)		probably benign	Homo
Zfp26	C	A	9: 20,349,842 (GRCm39)	A241S	probably benign	Homo
Zfp335	CTC	CTCATC	2: 164,749,397 (GRCm39)		probably benign	Het
Zfp335	CTCT	CTCTTCT	2: 164,749,403 (GRCm39)		probably benign	Het
Zfp598	ACCACC	ACCACCTCCACC	17: 24,899,750 (GRCm39)		probably benign	Het
Zfp598	ACCACC	ACCACCCCCACC	17: 24,899,759 (GRCm39)		probably benign	Het
Zfp831	TCC	TCCACC	2: 174,487,264 (GRCm39)		probably benign	Het
Zfp831	CTC	CTCGTC	2: 174,487,275 (GRCm39)		probably benign	Het
Zfp978	G	T	4: 147,475,401 (GRCm39)	S316I	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TGCACGCGTACTGAGTATCTG -3'
(R):5'- AGATAGAGACCAATGGGACCTTTG -3'

Sequencing Primer
(F):5'- GCGTACTGAGTATCTGCCACTCTAG -3'
(R):5'- GACCTTTGGGATCCAGAAAGTCTC -3'

Posted On

2018-04-05