Incidental Mutation 'R5704:Tenm1'
ID 451896
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 043329-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.346) question?
Stock # R5704 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 41616743-42518003 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 42163572 bp (GRCm39)
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]
AlphaFold no structure available at present
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 98% (85/87)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 G A 5: 105,116,036 (GRCm39) A266V probably damaging Het
Acad10 A G 5: 121,769,606 (GRCm39) S617P probably benign Het
Ahi1 A C 10: 20,950,326 (GRCm39) M126L probably benign Het
Alk T C 17: 72,910,115 (GRCm39) E197G probably damaging Het
Alyref2 A T 1: 171,331,547 (GRCm39) Y108F probably damaging Het
Ankrd26 T G 6: 118,500,843 (GRCm39) H876P probably damaging Het
Arfgef1 T C 1: 10,229,808 (GRCm39) T1298A probably damaging Het
Arhgap33 T A 7: 30,219,045 (GRCm39) probably benign Het
Arhgef17 A G 7: 100,530,548 (GRCm39) S1413P probably damaging Het
Arid1a A T 4: 133,409,050 (GRCm39) V1819E unknown Het
Asprv1 A G 6: 86,605,532 (GRCm39) N126S probably damaging Het
Atg16l2 T C 7: 100,949,418 (GRCm39) Y43C probably damaging Het
Atp13a3 G T 16: 30,140,697 (GRCm39) T1160K probably benign Het
Atp1a3 T C 7: 24,696,736 (GRCm39) T272A probably damaging Het
Bpifa3 G T 2: 153,979,562 (GRCm39) probably null Het
Bri3 T C 5: 144,192,716 (GRCm39) V80A probably damaging Het
Ccdc28a T A 10: 18,106,320 (GRCm39) E2V probably damaging Het
Ccdc7a T A 8: 129,706,577 (GRCm39) probably benign Het
Cds2 G A 2: 132,135,249 (GRCm39) V47I probably benign Het
Cela2a G A 4: 141,553,299 (GRCm39) probably benign Het
Ckap5 A G 2: 91,406,548 (GRCm39) Y783C probably damaging Het
Cmtr1 G C 17: 29,882,217 (GRCm39) A23P possibly damaging Het
Crym C A 7: 119,801,163 (GRCm39) probably null Het
Def6 T G 17: 28,447,200 (GRCm39) D610E probably benign Het
Dnajc15 T C 14: 78,063,898 (GRCm39) Y130C probably damaging Het
Dock8 G A 19: 25,151,586 (GRCm39) V1560I probably damaging Het
Eif4g3 T C 4: 137,918,003 (GRCm39) V1501A probably damaging Het
Esyt1 A G 10: 128,347,379 (GRCm39) S1049P probably damaging Het
Gm4952 G T 19: 12,604,275 (GRCm39) R229L probably damaging Het
Golga5 T A 12: 102,455,707 (GRCm39) H548Q probably benign Het
Gspt1 A T 16: 11,046,057 (GRCm39) D449E possibly damaging Het
Gtf3c2 T A 5: 31,316,454 (GRCm39) D732V probably damaging Het
Hax1 T A 3: 89,903,403 (GRCm39) Q168L probably damaging Het
Hectd2 T A 19: 36,576,291 (GRCm39) S91T possibly damaging Het
Igfbp2 T A 1: 72,891,303 (GRCm39) H300Q probably benign Het
Il12rb2 T C 6: 67,269,197 (GRCm39) N538S possibly damaging Het
Insr G A 8: 3,235,122 (GRCm39) P124L possibly damaging Het
Irak3 C A 10: 119,981,594 (GRCm39) R437L probably benign Het
Jhy C T 9: 40,808,734 (GRCm39) V676I probably damaging Het
Kcns3 G A 12: 11,142,328 (GRCm39) R124C probably benign Het
Lactb G A 9: 66,863,058 (GRCm39) R519* probably null Het
Mdfic G A 6: 15,770,291 (GRCm39) G94D probably damaging Het
Mospd3 A G 5: 137,598,613 (GRCm39) V42A possibly damaging Het
Mov10 A G 3: 104,706,912 (GRCm39) V666A probably benign Het
Mucl1 T C 15: 103,785,663 (GRCm39) I15V probably benign Het
Mug1 T A 6: 121,828,392 (GRCm39) V268D possibly damaging Het
Myo5c T A 9: 75,180,185 (GRCm39) S709T probably benign Het
Nol11 T A 11: 107,064,195 (GRCm39) E519V probably benign Het
Nrp2 A T 1: 62,824,267 (GRCm39) I791L probably benign Het
Nudt19 A G 7: 35,250,972 (GRCm39) Y256H probably benign Het
Nudt8 C T 19: 4,050,777 (GRCm39) R42C probably damaging Het
Or5ac16 A G 16: 59,022,369 (GRCm39) L140P probably damaging Het
Or6c213 T A 10: 129,574,685 (GRCm39) I34F probably benign Het
Pcdhga12 A G 18: 37,900,422 (GRCm39) Y418C probably damaging Het
Pds5a A G 5: 65,784,422 (GRCm39) probably null Het
Pdzd2 T C 15: 12,385,761 (GRCm39) D1003G probably benign Het
Pglyrp4 T A 3: 90,647,581 (GRCm39) probably null Het
Phip T C 9: 82,753,408 (GRCm39) N1779D probably damaging Het
Postn G T 3: 54,279,527 (GRCm39) C335F probably damaging Het
Ppp4r3a T C 12: 101,049,619 (GRCm39) probably benign Het
Prrt2 C T 7: 126,618,590 (GRCm39) V292M probably damaging Het
Rpl18 T C 7: 45,370,146 (GRCm39) V138A possibly damaging Het
Rps14 G A 18: 60,910,205 (GRCm39) probably benign Het
Sbno1 A G 5: 124,533,956 (GRCm39) probably null Het
Siah2 T G 3: 58,583,821 (GRCm39) K155T probably damaging Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc25a39 T A 11: 102,294,220 (GRCm39) probably benign Het
Slco1a7 T C 6: 141,658,980 (GRCm39) M539V probably benign Het
Smok2b T A 17: 13,455,231 (GRCm39) C464S probably damaging Het
Spata31 G A 13: 65,069,855 (GRCm39) V668I probably benign Het
Tbxas1 C A 6: 38,998,067 (GRCm39) H212N probably benign Het
Thada C T 17: 84,538,329 (GRCm39) A1560T probably benign Het
Tmem241 G C 18: 12,197,263 (GRCm39) F65L probably damaging Het
Ttc16 C G 2: 32,659,137 (GRCm39) E321Q probably damaging Het
Ttn A T 2: 76,748,929 (GRCm39) L4040H possibly damaging Het
Tyw1 G A 5: 130,310,863 (GRCm39) W437* probably null Het
Unc79 T A 12: 102,968,202 (GRCm39) Y143N probably damaging Het
Urb2 C T 8: 124,764,921 (GRCm39) R1310W probably damaging Het
Vmn2r4 T C 3: 64,317,370 (GRCm39) I34V probably benign Het
Zfp513 C T 5: 31,358,010 (GRCm39) C121Y possibly damaging Het
Zfp606 T G 7: 12,227,456 (GRCm39) W468G probably damaging Het
Zfyve16 C T 13: 92,640,979 (GRCm39) probably null Het
Other mutations in Tenm1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R6113: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'- GGCCAATACCAGAAGTGATAGC -3'
(R):5'- CTCATAATTACTAGCAATGGGGAAGG -3'

Sequencing Primer
(F):5'- AACTGCAGATGTAGTTTTCTTACC -3'
(R):5'- TTACTAGCAATGGGGAAGGGGAAAC -3'
Posted On 2017-01-03