Incidental Mutation 'R1543:Lin7a'
ID 171941
Institutional Source Beutler Lab
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
MMRRC Submission 039582-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1543 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 107107547-107257335 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 107247930 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 78 (F78L)
Ref Sequence ENSEMBL: ENSMUSP00000151715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020057] [ENSMUST00000105280] [ENSMUST00000218031]
AlphaFold Q8JZS0
Predicted Effect probably benign
Transcript: ENSMUST00000020057
AA Change: F200L

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000020057
Gene: ENSMUSG00000019906
AA Change: F200L

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: F78L

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000100916
Gene: ENSMUSG00000019906
AA Change: F78L

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: F78L

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.2%
Validation Efficiency 95% (77/81)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik G A 6: 40,945,138 (GRCm39) V206I probably damaging Het
Abca8b A C 11: 109,865,500 (GRCm39) M319R probably damaging Het
Abcc6 T C 7: 45,665,928 (GRCm39) R231G probably benign Het
Acadm A G 3: 153,635,209 (GRCm39) Y302H probably damaging Het
Acox3 C A 5: 35,760,352 (GRCm39) R423S probably damaging Het
Adam7 T A 14: 68,759,371 (GRCm39) probably benign Het
Adgrb3 A C 1: 25,527,169 (GRCm39) M589R probably benign Het
Adgrl2 A C 3: 148,564,909 (GRCm39) F224V probably damaging Het
Adm2 G C 15: 89,208,282 (GRCm39) G74A probably damaging Het
Aen T A 7: 78,552,370 (GRCm39) V15E probably damaging Het
Ankzf1 T A 1: 75,169,160 (GRCm39) V22D possibly damaging Het
Arap2 T A 5: 62,763,498 (GRCm39) K1549* probably null Het
Arhgef11 G A 3: 87,620,324 (GRCm39) R430H probably benign Het
Asb17 T G 3: 153,550,148 (GRCm39) L60W probably damaging Het
BC035044 T C 6: 128,867,948 (GRCm39) probably benign Het
Bltp2 A G 11: 78,166,000 (GRCm39) T1422A probably benign Het
Cacna2d1 A T 5: 16,471,716 (GRCm39) M254L possibly damaging Het
Celf6 T C 9: 59,511,160 (GRCm39) probably benign Het
Cemip2 G T 19: 21,789,937 (GRCm39) A668S probably benign Het
Coro2b C T 9: 62,333,123 (GRCm39) V120I probably benign Het
Cyp20a1 C A 1: 60,415,353 (GRCm39) probably benign Het
Cyp2c67 C A 19: 39,631,708 (GRCm39) probably benign Het
Dclk3 A G 9: 111,297,122 (GRCm39) H222R probably benign Het
Deaf1 A G 7: 140,904,060 (GRCm39) S109P possibly damaging Het
Dlg5 T A 14: 24,194,516 (GRCm39) D1675V probably damaging Het
Dsg2 T A 18: 20,727,268 (GRCm39) V605E probably benign Het
Dync2i1 T C 12: 116,195,404 (GRCm39) probably benign Het
Frem2 A T 3: 53,479,876 (GRCm39) I1939N possibly damaging Het
Fsip2 A T 2: 82,811,931 (GRCm39) Y2750F possibly damaging Het
Gpr39 T A 1: 125,800,161 (GRCm39) I304N probably damaging Het
Hdac7 G A 15: 97,707,410 (GRCm39) probably benign Het
Hipk1 T C 3: 103,685,480 (GRCm39) H45R probably benign Het
Hyal2 T C 9: 107,447,386 (GRCm39) L13P probably damaging Het
Kdm1b C T 13: 47,221,997 (GRCm39) R479W probably damaging Het
Lilrb4b A G 10: 51,357,517 (GRCm39) T118A probably damaging Het
Lpin3 A G 2: 160,737,310 (GRCm39) D119G possibly damaging Het
Lrp2 G A 2: 69,331,074 (GRCm39) R1661C probably damaging Het
Lrrc45 A G 11: 120,610,844 (GRCm39) K527E probably benign Het
Map10 C T 8: 126,397,611 (GRCm39) P335S probably benign Het
Mast3 A G 8: 71,244,955 (GRCm39) S2P possibly damaging Het
Mbtps1 A G 8: 120,268,808 (GRCm39) probably benign Het
Mms22l T A 4: 24,591,084 (GRCm39) N1018K probably benign Het
Nckipsd C A 9: 108,689,571 (GRCm39) A244D possibly damaging Het
Nt5el A T 13: 105,248,877 (GRCm39) R364* probably null Het
Or12k5 C A 2: 36,895,139 (GRCm39) L162F probably damaging Het
Or1j1 A T 2: 36,703,069 (GRCm39) F12I probably damaging Het
Or4k44 A G 2: 111,368,142 (GRCm39) V164A probably benign Het
Or52j3 T A 7: 102,836,421 (GRCm39) F204L probably benign Het
Or8b12c T A 9: 37,715,243 (GRCm39) I12N possibly damaging Het
Pcx A T 19: 4,652,251 (GRCm39) D112V probably damaging Het
Phf14 G A 6: 11,987,682 (GRCm39) probably null Het
Pkd1l1 A G 11: 8,851,200 (GRCm39) I744T probably damaging Het
Ppip5k2 A G 1: 97,668,607 (GRCm39) L560P probably damaging Het
Psmd14 A T 2: 61,615,874 (GRCm39) M248L probably benign Het
Ryr1 T G 7: 28,782,962 (GRCm39) E1884A possibly damaging Het
Scn4b T A 9: 45,061,727 (GRCm39) S204R probably damaging Het
Slc12a1 A T 2: 125,026,777 (GRCm39) M471L possibly damaging Het
Slc17a5 A G 9: 78,468,082 (GRCm39) V236A probably benign Het
Sobp T C 10: 42,897,720 (GRCm39) T622A probably damaging Het
Spata31d1a G T 13: 59,850,056 (GRCm39) R691S probably benign Het
Speg A G 1: 75,398,595 (GRCm39) E2014G probably damaging Het
Steap4 A G 5: 8,025,902 (GRCm39) probably benign Het
Tas2r144 G A 6: 42,192,537 (GRCm39) M92I probably benign Het
Tbc1d5 T C 17: 51,242,560 (GRCm39) Q179R probably benign Het
Tcf25 T C 8: 124,115,326 (GRCm39) Y188H probably benign Het
Tmem200a G A 10: 25,954,518 (GRCm39) probably benign Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Tssk5 T C 15: 76,256,409 (GRCm39) T337A probably benign Het
Ttc23 T C 7: 67,328,743 (GRCm39) V228A probably benign Het
Tulp1 A T 17: 28,581,645 (GRCm39) probably benign Het
Uqcc3 A G 19: 8,858,117 (GRCm39) F25L probably damaging Het
Vmn2r1 G A 3: 63,996,994 (GRCm39) G217S probably damaging Het
Vmn2r120 C T 17: 57,829,374 (GRCm39) E508K probably benign Het
Wdfy3 C A 5: 101,991,947 (GRCm39) V3451L probably benign Het
Wdr19 G A 5: 65,382,033 (GRCm39) V418I probably benign Het
Xirp2 C T 2: 67,338,383 (GRCm39) T208I probably benign Het
Xpnpep1 A G 19: 52,980,107 (GRCm39) V639A probably benign Het
Other mutations in Lin7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01951:Lin7a APN 10 107,247,886 (GRCm39) missense possibly damaging 0.94
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
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
Predicted Primers PCR Primer
(F):5'- GTCCCTGGAGGAAACAAATGAGTGAA -3'
(R):5'- GCTGAATGACTCATGGAAACAGGACAA -3'

Sequencing Primer
(F):5'- CAAATGAGTGAACTCTCTCCATGTC -3'
(R):5'- ACAGGACAACCTGTTTACTTTTTCG -3'
Posted On 2014-04-13