Mutagenetix > Incidental Mutation

Incidental Mutation 'R6113:Tenm1'

484989

Institutional Source

Beutler Lab

Gene Symbol

Tenm1

Ensembl Gene

ENSMUSG00000016150

Gene Name

teneurin transmembrane protein 1

Synonyms

Odz1, teneurin-1, TCAP-1, Ten-m1

MMRRC Submission

044262-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.346) question?

Stock #

R6113 (G1)

Quality Score

221.999

Status

Validated

Chromosome

Chromosomal Location

41616743-42518003 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 41916072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 404 (G404E)

Ref Sequence

ENSEMBL: ENSMUSP00000110711 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016294] [ENSMUST00000115058] [ENSMUST00000115059]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000016294
AA Change: G404E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000016294
Gene: ENSMUSG00000016150
AA Change: G404E

Domain	Start	End	E-Value	Type
Pfam:Ten_N	12	177	5.1e-30	PFAM
Pfam:Ten_N	168	317	1.5e-45	PFAM
transmembrane domain	318	340	N/A	INTRINSIC
EGF	530	558	8.8e-3	SMART
EGF_like	561	589	2.5e-1	SMART
EGF	594	623	1.2e-2	SMART
EGF	626	655	4.5e-3	SMART
EGF	660	690	1.1e-1	SMART
EGF	693	721	6e-2	SMART
EGF	724	752	1.5e-2	SMART
EGF	763	795	1.6e-2	SMART
low complexity region	801	816	N/A	INTRINSIC
Pfam:Tox-GHH	2647	2724	5e-29	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000115058
AA Change: G404E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110710
Gene: ENSMUSG00000016150
AA Change: G404E

Domain	Start	End	E-Value	Type
Pfam:Ten_N	11	170	5.4e-36	PFAM
Pfam:Ten_N	159	317	7.4e-46	PFAM
transmembrane domain	318	340	N/A	INTRINSIC
EGF	530	558	1.73e0	SMART
EGF_like	561	589	5.13e1	SMART
EGF	594	623	2.45e0	SMART
EGF	626	655	9.27e-1	SMART
EGF	660	690	2.29e1	SMART
EGF	693	721	1.2e1	SMART
EGF	724	752	3.01e0	SMART
EGF	763	795	3.23e0	SMART
low complexity region	801	816	N/A	INTRINSIC
Pfam:Tox-GHH	2639	2717	1.1e-33	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000115059
AA Change: G404E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110711
Gene: ENSMUSG00000016150
AA Change: G404E

Domain	Start	End	E-Value	Type
Pfam:Ten_N	11	170	1.2e-32	PFAM
Pfam:Ten_N	159	317	1.6e-42	PFAM
transmembrane domain	318	340	N/A	INTRINSIC
EGF	530	558	8.6e-3	SMART
EGF_like	561	589	2.5e-1	SMART
EGF	594	623	1.2e-2	SMART
EGF	626	655	4.4e-3	SMART
EGF	660	690	1.1e-1	SMART
EGF	693	721	5.8e-2	SMART
EGF	724	752	1.5e-2	SMART
EGF	763	795	1.6e-2	SMART
low complexity region	801	816	N/A	INTRINSIC
Pfam:Tox-GHH	2646	2724	2.3e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154433

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.1%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the tenascin family and teneurin subfamily. It is expressed in the neurons and may function as a cellular signal transducer. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	A	16: 8,390,764 (GRCm39)	T7N	probably benign	Het
Aldh1l2	G	T	10: 83,343,998 (GRCm39)	C359*	probably null	Het
Atpsckmt	T	C	15: 31,608,308 (GRCm39)	Y120H	probably damaging	Het
Bpifb6	G	A	2: 153,752,651 (GRCm39)	E384K	probably benign	Het
Chtf18	G	A	17: 25,941,841 (GRCm39)	R544C	probably damaging	Het
Cilp2	T	C	8: 70,335,009 (GRCm39)	D663G	probably benign	Het
Cplx3	T	A	9: 57,509,723 (GRCm39)	I92F	probably damaging	Het
Cr1l	T	C	1: 194,813,719 (GRCm39)		probably benign	Het
Cyp1a1	T	A	9: 57,609,174 (GRCm39)	F323I	probably damaging	Het
Dclk1	T	C	3: 55,397,240 (GRCm39)	Y186H	probably benign	Het
Dclre1c	T	C	2: 3,453,900 (GRCm39)	L261P	probably damaging	Het
Dcst2	T	C	3: 89,275,192 (GRCm39)	S312P	possibly damaging	Het
Dnah17	A	G	11: 118,017,101 (GRCm39)	L213P	probably damaging	Het
Dnd1	T	A	18: 36,898,448 (GRCm39)	Y102F	probably damaging	Het
Dnm1l	T	C	16: 16,158,867 (GRCm39)	N121S	probably benign	Het
Dsp	T	A	13: 38,376,023 (GRCm39)	N1269K	probably damaging	Het
Dync1h1	T	C	12: 110,586,848 (GRCm39)	V943A	probably benign	Het
Eml5	T	A	12: 98,790,933 (GRCm39)	K1322*	probably null	Het
Fgf23	A	G	6: 127,055,117 (GRCm39)	T76A	probably benign	Het
Fgf6	T	C	6: 126,992,900 (GRCm39)		probably null	Het
Fkbp15	G	A	4: 62,258,884 (GRCm39)	T124I	probably benign	Het
Gm12185	A	T	11: 48,806,167 (GRCm39)	H341Q	possibly damaging	Het
Gm20647	A	G	5: 72,487,143 (GRCm39)		probably benign	Het
Lrp2	G	C	2: 69,313,901 (GRCm39)	R2277G	possibly damaging	Het
Lrrc69	T	C	4: 14,708,673 (GRCm39)	T224A	probably benign	Het
Ly75	T	G	2: 60,199,217 (GRCm39)	I175L	probably benign	Het
Morc2b	G	T	17: 33,357,042 (GRCm39)	Y243*	probably null	Het
Myo18b	C	G	5: 113,014,251 (GRCm39)	D764H	probably damaging	Het
Naip6	T	C	13: 100,435,794 (GRCm39)	S910G	possibly damaging	Het
Nbeal1	T	A	1: 60,261,422 (GRCm39)	I21N	possibly damaging	Het
P3h2	A	T	16: 25,799,903 (GRCm39)	I430K	probably benign	Het
Pcdh9	A	G	14: 94,124,544 (GRCm39)	V542A	probably damaging	Het
Pkp3	T	A	7: 140,662,569 (GRCm39)	N60K	probably damaging	Het
Pold1	C	A	7: 44,187,124 (GRCm39)	G686C	probably damaging	Het
Prdm6	T	A	18: 53,606,673 (GRCm39)	L58Q	probably damaging	Het
Rab13	C	A	3: 90,132,173 (GRCm39)	R86S	probably benign	Het
Rad21l	A	C	2: 151,499,398 (GRCm39)	L265V	probably damaging	Het
Rec8	G	A	14: 55,859,935 (GRCm39)	A228T	probably damaging	Het
Rgs12	C	A	5: 35,177,667 (GRCm39)	R76S	probably damaging	Het
Sfmbt1	A	G	14: 30,537,141 (GRCm39)	N670D	possibly damaging	Het
Slc17a7	A	G	7: 44,824,175 (GRCm39)	T464A	possibly damaging	Het
Srcap	C	A	7: 127,159,453 (GRCm39)		probably benign	Het
Srgap2	A	T	1: 131,283,243 (GRCm39)		probably null	Het
Thpo	C	A	16: 20,547,597 (GRCm39)		probably benign	Het
Tle4	A	T	19: 14,572,952 (GRCm39)		probably null	Het
Tnfrsf14	T	C	4: 155,008,949 (GRCm39)	Q74R	possibly damaging	Het
Trav15-2-dv6-2	T	G	14: 53,887,182 (GRCm39)	V34G	probably benign	Het
Trbv13-1	C	T	6: 41,093,313 (GRCm39)	A82V	probably benign	Het
Trib1	C	T	15: 59,523,487 (GRCm39)	R174*	probably null	Het
Trpv3	G	A	11: 73,176,844 (GRCm39)	V408I	probably benign	Het
Tyk2	A	T	9: 21,019,218 (GRCm39)	V1068E	probably damaging	Het
Usp35	A	G	7: 96,973,533 (GRCm39)	S230P	probably damaging	Het
Utp25	T	C	1: 192,811,810 (GRCm39)	I46V	probably null	Het
Vav1	T	A	17: 57,608,884 (GRCm39)	D349E	probably benign	Het
Vcan	T	A	13: 89,805,655 (GRCm39)	R114*	probably null	Het
Vmn1r25	T	C	6: 57,955,557 (GRCm39)	E244G	probably benign	Het
Vmn2r5	T	C	3: 64,398,820 (GRCm39)	T720A	probably benign	Het
Wdr72	T	A	9: 74,059,923 (GRCm39)	D444E	probably benign	Het
Zfhx3	T	A	8: 109,674,053 (GRCm39)	M1701K	probably benign	Het

Other mutations in Tenm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00594:Tenm1	APN	X	41,803,913 (GRCm39)	missense	probably benign	0.04
R0481:Tenm1	UTSW	X	41,625,058 (GRCm39)	missense	probably damaging	1.00
R1959:Tenm1	UTSW	X	41,916,078 (GRCm39)	missense	probably benign	0.06
R1960:Tenm1	UTSW	X	41,916,078 (GRCm39)	missense	probably benign	0.06
R3734:Tenm1	UTSW	X	41,772,944 (GRCm39)	missense	probably benign	0.32
R4585:Tenm1	UTSW	X	41,626,856 (GRCm39)	nonsense	probably null
R5704:Tenm1	UTSW	X	42,163,572 (GRCm39)	missense	possibly damaging	0.58
R5706:Tenm1	UTSW	X	42,163,572 (GRCm39)	missense	possibly damaging	0.58
R6112:Tenm1	UTSW	X	41,916,072 (GRCm39)	missense	probably damaging	1.00
X0067:Tenm1	UTSW	X	41,625,739 (GRCm39)	missense	probably damaging	1.00
Z1088:Tenm1	UTSW	X	41,988,712 (GRCm39)	missense	probably damaging	1.00
Z1176:Tenm1	UTSW	X	41,905,681 (GRCm39)	nonsense	probably null
Z1176:Tenm1	UTSW	X	41,905,680 (GRCm39)	missense	probably damaging	0.96
Z1177:Tenm1	UTSW	X	41,914,425 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATCTGACGTGCGAAGTGC -3'
(R):5'- CCATCTATCAAGAGAATGAGTGTTCAG -3'

Sequencing Primer
(F):5'- GTGCGAAGTGCTTGATATACTACCC -3'
(R):5'- GGTTGATCAGAAAAAGCCTCTTAG -3'

Posted On

2017-08-16