Incidental Mutation 'IGL01951:Lin7a'
ID181034
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lin7a
Ensembl Gene ENSMUSG00000019906
Gene Namelin-7 homolog A (C. elegans)
SynonymsVeli, LIN-7A, TIP-33, MALS-1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01951
Quality Score
Status
Chromosome10
Chromosomal Location107271686-107421474 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 107412025 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 186 (V186I)
Ref Sequence ENSEMBL: ENSMUSP00000020057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020057] [ENSMUST00000105280] [ENSMUST00000218031]
Predicted Effect possibly damaging
Transcript: ENSMUST00000020057
AA Change: V186I

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020057
Gene: ENSMUSG00000019906
AA Change: V186I

DomainStartEndE-ValueType
L27 28 83 2.59e-12 SMART
low complexity region 84 99 N/A INTRINSIC
PDZ 116 190 1.32e-23 SMART
low complexity region 210 229 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000105280
AA Change: V64I

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000100916
Gene: ENSMUSG00000019906
AA Change: V64I

DomainStartEndE-ValueType
PDZ 1 68 8.27e-16 SMART
coiled coil region 69 93 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000218031
AA Change: V64I

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
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 is involved in generating and maintaining the asymmetric distribution of channels and receptors at the cell membrane. The encoded protein also is required for the localization of some specific channels and can be part of a protein complex that couples synaptic vesicle exocytosis to cell adhesion in the brain. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik A G 4: 103,235,668 I152T probably damaging Het
A2m C T 6: 121,667,190 T949I possibly damaging Het
Begain T A 12: 109,033,645 Y605F probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cavin2 A G 1: 51,289,411 E9G possibly damaging Het
Cdh16 A G 8: 104,617,691 V72A probably damaging Het
Dgkd T C 1: 87,916,916 L268P probably damaging Het
Eps8 T A 6: 137,537,671 Y28F possibly damaging Het
Erap1 T C 13: 74,675,295 I816T probably damaging Het
Fli1 A T 9: 32,461,364 F126Y probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21957 A T 7: 125,219,832 noncoding transcript Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Gm9833 G A 3: 10,089,058 V296M probably damaging Het
Hectd1 T A 12: 51,794,497 R618* probably null Het
Homez T C 14: 54,858,176 E25G probably damaging Het
Ifngr1 C A 10: 19,609,454 N400K possibly damaging Het
Lpcat2 G T 8: 92,918,047 S448I probably damaging Het
Lrp10 C A 14: 54,468,662 Y436* probably null Het
Myo1f A G 17: 33,598,017 H707R possibly damaging Het
Neurl4 A G 11: 69,909,623 N1147D probably damaging Het
Olfr1272 G T 2: 90,282,007 D189E probably damaging Het
Olfr1414 T C 1: 92,511,131 D299G probably null Het
Pak6 T C 2: 118,693,260 S299P probably benign Het
Panx2 A G 15: 89,068,767 D487G probably damaging Het
Sbspon T C 1: 15,858,934 N211S probably benign Het
Sgsm1 T A 5: 113,286,767 probably benign Het
Slc38a4 T C 15: 97,019,763 Y27C probably benign Het
Sorbs1 A G 19: 40,318,016 probably benign Het
Ssh1 A T 5: 113,966,247 Y35N possibly damaging Het
Stx2 A T 5: 128,992,265 F127L probably damaging Het
Synm A T 7: 67,739,137 I325N probably damaging Het
Szt2 A G 4: 118,376,493 probably benign Het
Tbc1d23 A G 16: 57,186,685 probably benign Het
Tmem50a T C 4: 134,898,428 probably benign Het
Tpx2 T G 2: 152,884,176 L354V probably benign Het
Trafd1 G A 5: 121,374,031 R399C possibly damaging Het
Trem3 C T 17: 48,249,875 R125W probably damaging Het
Ubp1 T A 9: 113,951,618 Y92* probably null Het
Wnk1 T A 6: 119,963,485 T62S probably damaging Het
Zbtb6 T C 2: 37,429,331 E195G probably benign Het
Zc3h15 A G 2: 83,661,485 D306G probably damaging Het
Other mutations in Lin7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1226:Lin7a UTSW 10 107271919 missense probably benign
R1386:Lin7a UTSW 10 107412122 missense unknown
R1449:Lin7a UTSW 10 107323952 missense probably damaging 0.99
R1543:Lin7a UTSW 10 107412069 missense possibly damaging 0.46
R1845:Lin7a UTSW 10 107412059 missense probably damaging 1.00
R4599:Lin7a UTSW 10 107412166 missense unknown
R5001:Lin7a UTSW 10 107382669 nonsense probably null
R6324:Lin7a UTSW 10 107380215 splice site probably null
R6700:Lin7a UTSW 10 107380306 splice site probably null
R7023:Lin7a UTSW 10 107382628 missense possibly damaging 0.65
R7670:Lin7a UTSW 10 107382691 missense possibly damaging 0.91
R7902:Lin7a UTSW 10 107323982 missense possibly damaging 0.88
Posted On2014-05-07