Incidental Mutation 'IGL01951:Lin7a'
ID 181034
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lin7a
Ensembl Gene ENSMUSG00000019906
Gene Name lin-7 homolog A, crumbs cell polarity complex component
Synonyms MALS-1, LIN-7A, Veli, TIP-33
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01951
Quality Score
Status
Chromosome 10
Chromosomal Location 107107547-107257335 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 107247886 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8JZS0
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: 103,092,865 (GRCm39) I152T probably damaging Het
A2m C T 6: 121,644,149 (GRCm39) T949I possibly damaging Het
Begain T A 12: 108,999,571 (GRCm39) Y605F probably benign Het
Cavin2 A G 1: 51,328,570 (GRCm39) E9G possibly damaging Het
Cdh16 A G 8: 105,344,323 (GRCm39) V72A probably damaging Het
Dgkd T C 1: 87,844,638 (GRCm39) L268P probably damaging Het
Eps8 T A 6: 137,514,669 (GRCm39) Y28F possibly damaging Het
Erap1 T C 13: 74,823,414 (GRCm39) I816T probably damaging Het
Fli1 A T 9: 32,372,660 (GRCm39) F126Y probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21957 A T 7: 124,819,004 (GRCm39) noncoding transcript Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Hectd1 T A 12: 51,841,280 (GRCm39) R618* probably null Het
Homez T C 14: 55,095,633 (GRCm39) E25G probably damaging Het
Ifngr1 C A 10: 19,485,202 (GRCm39) N400K possibly damaging Het
Lpcat2 G T 8: 93,644,675 (GRCm39) S448I probably damaging Het
Lrp10 C A 14: 54,706,119 (GRCm39) Y436* probably null Het
Myef2l G A 3: 10,154,118 (GRCm39) V296M probably damaging Het
Myo1f A G 17: 33,816,991 (GRCm39) H707R possibly damaging Het
Neurl4 A G 11: 69,800,449 (GRCm39) N1147D probably damaging Het
Or4b1b G T 2: 90,112,351 (GRCm39) D189E probably damaging Het
Or6b3 T C 1: 92,438,853 (GRCm39) D299G probably null Het
Pak6 T C 2: 118,523,741 (GRCm39) S299P probably benign Het
Panx2 A G 15: 88,952,970 (GRCm39) D487G probably damaging Het
Sbspon T C 1: 15,929,158 (GRCm39) N211S probably benign Het
Sgsm1 T A 5: 113,434,633 (GRCm39) probably benign Het
Slc38a4 T C 15: 96,917,644 (GRCm39) Y27C probably benign Het
Sorbs1 A G 19: 40,306,460 (GRCm39) probably benign Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Ssh1 A T 5: 114,104,308 (GRCm39) Y35N possibly damaging Het
Stx2 A T 5: 129,069,329 (GRCm39) F127L probably damaging Het
Synm A T 7: 67,388,885 (GRCm39) I325N probably damaging Het
Szt2 A G 4: 118,233,690 (GRCm39) probably benign Het
Tbc1d23 A G 16: 57,007,048 (GRCm39) probably benign Het
Tmem50a T C 4: 134,625,739 (GRCm39) probably benign Het
Tpx2 T G 2: 152,726,096 (GRCm39) L354V probably benign Het
Trafd1 G A 5: 121,512,094 (GRCm39) R399C possibly damaging Het
Trem3 C T 17: 48,556,903 (GRCm39) R125W probably damaging Het
Ubp1 T A 9: 113,780,686 (GRCm39) Y92* probably null Het
Wnk1 T A 6: 119,940,446 (GRCm39) T62S probably damaging Het
Zbtb6 T C 2: 37,319,343 (GRCm39) E195G probably benign Het
Zc3h15 A G 2: 83,491,829 (GRCm39) D306G probably damaging Het
Other mutations in Lin7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1226:Lin7a UTSW 10 107,107,780 (GRCm39) missense probably benign
R1386:Lin7a UTSW 10 107,247,983 (GRCm39) missense unknown
R1449:Lin7a UTSW 10 107,159,813 (GRCm39) missense probably damaging 0.99
R1543:Lin7a UTSW 10 107,247,930 (GRCm39) missense possibly damaging 0.46
R1845:Lin7a UTSW 10 107,247,920 (GRCm39) missense probably damaging 1.00
R4599:Lin7a UTSW 10 107,248,027 (GRCm39) missense unknown
R5001:Lin7a UTSW 10 107,218,530 (GRCm39) nonsense probably null
R6324:Lin7a UTSW 10 107,216,076 (GRCm39) splice site probably null
R6700:Lin7a UTSW 10 107,216,167 (GRCm39) splice site probably null
R7023:Lin7a UTSW 10 107,218,489 (GRCm39) missense possibly damaging 0.65
R7670:Lin7a UTSW 10 107,218,552 (GRCm39) missense possibly damaging 0.91
R7902:Lin7a UTSW 10 107,159,843 (GRCm39) missense possibly damaging 0.88
R8355:Lin7a UTSW 10 107,218,497 (GRCm39) missense probably damaging 1.00
R8841:Lin7a UTSW 10 107,218,524 (GRCm39) missense possibly damaging 0.95
R9229:Lin7a UTSW 10 107,247,844 (GRCm39) missense probably damaging 0.97
R9456:Lin7a UTSW 10 107,218,483 (GRCm39) missense possibly damaging 0.82
R9733:Lin7a UTSW 10 107,247,905 (GRCm39) missense possibly damaging 0.50
Posted On 2014-05-07