Incidental Mutation 'IGL00594:Tenm1'
ID3131
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tenm1
Ensembl Gene ENSMUSG00000016150
Gene Nameteneurin transmembrane protein 1
SynonymsTCAP-1, teneurin-1, Odz1, Ten-m1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.178) question?
Stock #IGL00594
Quality Score
Status
ChromosomeX
Chromosomal Location42527866-43429126 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 42715036 bp
ZygosityHeterozygous
Amino Acid Change Proline to Threonine at position 837 (P837T)
Ref Sequence ENSEMBL: ENSMUSP00000110711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016294] [ENSMUST00000115058] [ENSMUST00000115059]
Predicted Effect probably benign
Transcript: ENSMUST00000016294
AA Change: P837T

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000016294
Gene: ENSMUSG00000016150
AA Change: P837T

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 probably benign
Transcript: ENSMUST00000115058
AA Change: P837T

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000110710
Gene: ENSMUSG00000016150
AA Change: P837T

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 probably benign
Transcript: ENSMUST00000115059
AA Change: P837T

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000110711
Gene: ENSMUSG00000016150
AA Change: P837T

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
Coding Region Coverage
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A G 1: 193,174,801 T154A probably benign Het
Acox1 A G 11: 116,174,505 probably benign Het
Adgrg2 G A X: 160,485,777 V677I probably benign Het
Aifm1 T C X: 48,482,099 T386A probably benign Het
Aspm T C 1: 139,487,422 probably benign Het
Fgfr2 A G 7: 130,228,723 V175A probably damaging Het
Gm14781 C T X: 91,635,485 Q348* probably null Het
Gm382 T C X: 127,063,152 Y987H probably benign Het
Golga3 A T 5: 110,204,975 M911L probably benign Het
Hmgxb3 A G 18: 61,157,739 V354A probably benign Het
Ifne T C 4: 88,879,804 N126D probably benign Het
Igkv3-7 T C 6: 70,607,823 V49A possibly damaging Het
Kbtbd8 A T 6: 95,126,513 Y381F probably damaging Het
Klc1 C T 12: 111,776,884 T215M probably damaging Het
Lrp2 A T 2: 69,486,280 V2119E probably benign Het
Lrrc7 A G 3: 158,187,010 V322A probably benign Het
Ms4a14 A G 19: 11,301,619 S1192P possibly damaging Het
Ndufaf6 T C 4: 11,062,127 Y168C probably damaging Het
Plcg2 C T 8: 117,556,071 T97I possibly damaging Het
Rasgrp4 T C 7: 29,148,541 probably benign Het
Rgs22 T C 15: 36,083,631 H515R probably benign Het
Rpn1 G T 6: 88,095,629 R318L probably damaging Het
Shroom2 A T X: 152,613,516 F1359Y probably damaging Het
Tarsl2 T A 7: 65,676,132 probably null Het
Tbc1d12 A G 19: 38,896,043 E346G possibly damaging Het
Tbccd1 A G 16: 22,822,544 F361S possibly damaging Het
Tmem144 A G 3: 79,839,167 V27A probably benign Het
Zfp616 T A 11: 74,082,963 N19K possibly damaging Het
Zkscan7 T C 9: 122,895,594 Y543H possibly damaging Het
Other mutations in Tenm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5706: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
Posted On2012-04-20