Mutagenetix > Incidental Mutations

Incidental Mutation 'R5706:Tenm1'

452001

Institutional Source

Beutler Lab

Gene Symbol

Tenm1

Ensembl Gene

ENSMUSG00000016150

Gene Name

teneurin transmembrane protein 1

Synonyms

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

MMRRC Submission

043331-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.258) question?

Stock #

R5706 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

42527866-43429126 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43074695 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 107 (V107A)

Ref Sequence

ENSEMBL: ENSMUSP00000110711 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000016294
AA Change: V107A

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000016294
Gene: ENSMUSG00000016150
AA Change: V107A

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

possibly damaging
Transcript: ENSMUST00000115058
AA Change: V107A

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110710
Gene: ENSMUSG00000016150
AA Change: V107A

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

possibly damaging
Transcript: ENSMUST00000115059
AA Change: V107A

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110711
Gene: ENSMUSG00000016150
AA Change: V107A

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: ENSMUST00000126161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154433

Meta Mutation Damage Score

0.1150

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 122,054,261	M77K	probably benign	Het
Amy1	A	G	3: 113,556,120	V467A	probably damaging	Het
Atf4	T	C	15: 80,256,330	V11A	possibly damaging	Het
B4galt1	T	C	4: 40,807,268	N373D	probably damaging	Het
Bpifa3	A	G	2: 154,135,578	K112R	probably damaging	Het
Chd2	T	A	7: 73,491,357	Y596F	possibly damaging	Het
Clspn	T	C	4: 126,578,418	S962P	probably damaging	Het
Cyp2c68	T	C	19: 39,734,318	D262G	possibly damaging	Het
Dcaf11	T	C	14: 55,565,695	I282T	probably damaging	Het
Dmxl1	T	C	18: 49,957,395		probably null	Het
Dnah11	T	G	12: 118,023,935	K2411Q	probably damaging	Het
Elf3	A	G	1: 135,256,482	V196A	probably benign	Het
Fhad1	T	G	4: 141,954,116	T538P	probably damaging	Het
Fkbp10	A	G	11: 100,421,023	D174G	probably damaging	Het
Gas6	A	G	8: 13,477,098	S217P	probably damaging	Het
Gm4778	T	A	3: 94,266,652	H322Q	possibly damaging	Het
Heatr5b	C	T	17: 78,766,875		probably null	Het
Iqgap3	A	G	3: 88,115,908	E502G	probably benign	Het
Klc1	T	C	12: 111,795,627	V577A	possibly damaging	Het
Lck	T	C	4: 129,551,638		probably null	Het
Mc3r	C	A	2: 172,249,690	Y277*	probably null	Het
Mlxipl	T	C	5: 135,133,604	V640A	probably benign	Het
Mrc2	A	T	11: 105,332,343	N471Y	probably damaging	Het
Ncan	T	A	8: 70,102,017	H1050L	probably damaging	Het
Nrl	C	A	14: 55,522,432	V13F	probably damaging	Het
Obscn	T	A	11: 59,076,256	Y546F	probably damaging	Het
Olfr214	A	G	6: 116,557,113	I229M	probably damaging	Het
Olfr654	T	G	7: 104,587,890	S46A	probably benign	Het
Olfr799	A	G	10: 129,648,091		probably null	Het
Pde3b	G	A	7: 114,521,692	G684D	probably damaging	Het
Prkaa1	C	T	15: 5,174,342	T244I	probably benign	Het
Scfd2	A	T	5: 74,206,398		probably null	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Smg1	A	T	7: 118,145,590	V3113D	possibly damaging	Het
Sorbs1	T	C	19: 40,376,881	T153A	probably benign	Het
Spag16	A	G	1: 69,870,289	T182A	probably benign	Het
Svs2	T	C	2: 164,237,669	K106R	possibly damaging	Het
Topaz1	A	T	9: 122,799,485	I1546F	possibly damaging	Het
Tubgcp2	C	A	7: 140,032,225	E78*	probably null	Het
Vars	A	G	17: 35,005,481		probably null	Het
Vmn2r109	A	T	17: 20,554,305	W263R	probably benign	Het

Other mutations in Tenm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00594:Tenm1	APN	X	42715036	missense	probably benign	0.04
R0481:Tenm1	UTSW	X	42536181	missense	probably damaging	1.00
R1959:Tenm1	UTSW	X	42827201	missense	probably benign	0.06
R1960:Tenm1	UTSW	X	42827201	missense	probably benign	0.06
R3734:Tenm1	UTSW	X	42684067	missense	probably benign	0.32
R4585:Tenm1	UTSW	X	42537979	nonsense	probably null
R5704:Tenm1	UTSW	X	43074695	missense	possibly damaging	0.58
R6112:Tenm1	UTSW	X	42827195	missense	probably damaging	1.00
R6113:Tenm1	UTSW	X	42827195	missense	probably damaging	1.00
X0067:Tenm1	UTSW	X	42536862	missense	probably damaging	1.00
Z1088:Tenm1	UTSW	X	42899835	missense	probably damaging	1.00
Z1176:Tenm1	UTSW	X	42816803	missense	probably damaging	0.96
Z1176:Tenm1	UTSW	X	42816804	nonsense	probably null
Z1177:Tenm1	UTSW	X	42825548	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCCAATACCAGAAGTGATAGC -3'
(R):5'- TCATAATTACTAGCAATGGGGAAGG -3'

Sequencing Primer
(F):5'- AACTGCAGATGTAGTTTTCTTACC -3'
(R):5'- TTACTAGCAATGGGGAAGGGGAAAC -3'

Posted On

2017-01-03