Incidental Mutation 'R1845:Lin7a'
ID 207663
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 039870-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1845 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 107107547-107257335 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 107247920 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 75 (E75A)
Ref Sequence ENSEMBL: ENSMUSP00000151715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020057] [ENSMUST00000105280] [ENSMUST00000218031]
AlphaFold Q8JZS0
Predicted Effect possibly damaging
Transcript: ENSMUST00000020057
AA Change: E197A

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020057
Gene: ENSMUSG00000019906
AA Change: E197A

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 probably damaging
Transcript: ENSMUST00000105280
AA Change: E75A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000100916
Gene: ENSMUSG00000019906
AA Change: E75A

PDZ 1 68 8.27e-16 SMART
coiled coil region 69 93 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000218031
AA Change: E75A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.7%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik CGGG CGGGGGG 15: 76,833,863 (GRCm39) probably benign Het
Abca17 A T 17: 24,486,690 (GRCm39) C1446S probably damaging Het
Asb16 C A 11: 102,167,582 (GRCm39) A316E possibly damaging Het
Axdnd1 C T 1: 156,204,114 (GRCm39) V384I possibly damaging Het
BC024139 A T 15: 76,009,461 (GRCm39) L207* probably null Het
Bcl3 T G 7: 19,543,552 (GRCm39) S305R probably damaging Het
Cachd1 T C 4: 100,634,555 (GRCm39) V77A probably benign Het
Cd101 C T 3: 100,936,764 (GRCm39) probably null Het
Cela1 T C 15: 100,583,048 (GRCm39) N64S probably benign Het
Cep128 T C 12: 91,256,372 (GRCm39) D366G probably benign Het
Col12a1 A G 9: 79,604,823 (GRCm39) V675A probably benign Het
Copg1 A G 6: 87,870,800 (GRCm39) Y201C probably damaging Het
Cyp24a1 T C 2: 170,329,837 (GRCm39) R372G probably benign Het
Dcaf1 A C 9: 106,729,161 (GRCm39) I567L probably benign Het
Dcn A G 10: 97,342,536 (GRCm39) D164G probably benign Het
Dnase2a T A 8: 85,635,951 (GRCm39) H113Q probably benign Het
Espl1 T C 15: 102,207,448 (GRCm39) V304A probably benign Het
Fam193a A G 5: 34,600,716 (GRCm39) D315G possibly damaging Het
Fkbp8 T A 8: 70,983,685 (GRCm39) probably null Het
Foxp4 T A 17: 48,188,884 (GRCm39) T321S probably null Het
Fut10 A G 8: 31,726,328 (GRCm39) N361S probably damaging Het
Gyg1 A T 3: 20,205,286 (GRCm39) V94D probably damaging Het
Has2 T C 15: 56,531,974 (GRCm39) K247R probably damaging Het
Helz2 G T 2: 180,873,878 (GRCm39) D2205E probably benign Het
Hps6 T A 19: 45,993,409 (GRCm39) S449T probably benign Het
Ints10 T C 8: 69,247,323 (GRCm39) Y64H probably damaging Het
Kalrn T C 16: 34,177,331 (GRCm39) H278R probably damaging Het
Klhdc8a T C 1: 132,231,548 (GRCm39) V280A possibly damaging Het
Klk1b5 A G 7: 43,869,549 (GRCm39) M210V probably benign Het
Kmt2c G A 5: 25,578,434 (GRCm39) A614V probably benign Het
Lck T A 4: 129,451,879 (GRCm39) I45F probably benign Het
Lrp1 A T 10: 127,414,542 (GRCm39) C1070S probably damaging Het
Mapk8ip3 G T 17: 25,133,557 (GRCm39) N289K probably benign Het
Mbtps1 T C 8: 120,249,232 (GRCm39) D686G probably benign Het
Mknk1 T A 4: 115,730,428 (GRCm39) C178* probably null Het
Mtmr6 A G 14: 60,534,184 (GRCm39) N474S probably damaging Het
Mvb12b A G 2: 33,730,169 (GRCm39) probably null Het
Myh6 T C 14: 55,182,131 (GRCm39) K1759R probably damaging Het
Nfatc1 T C 18: 80,678,746 (GRCm39) K881E possibly damaging Het
Nlrp10 A G 7: 108,526,248 (GRCm39) F30S probably damaging Het
Nop14 G T 5: 34,807,672 (GRCm39) A430E possibly damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Or1j18 A T 2: 36,624,854 (GRCm39) I174F probably damaging Het
Or4c107 A G 2: 88,789,211 (GRCm39) I134V probably damaging Het
Or4c108 A G 2: 88,803,482 (GRCm39) V251A probably benign Het
Or6c205 A G 10: 129,086,463 (GRCm39) E20G probably benign Het
Or6c88 A T 10: 129,407,217 (GRCm39) Q231L probably damaging Het
Or7g17 A T 9: 18,768,782 (GRCm39) Y287F possibly damaging Het
Osbpl7 C A 11: 96,949,954 (GRCm39) S378R probably damaging Het
Otof A T 5: 30,529,067 (GRCm39) Y1775* probably null Het
Parp16 T C 9: 65,122,876 (GRCm39) S46P possibly damaging Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Pi16 A T 17: 29,538,361 (GRCm39) Q58L possibly damaging Het
Pld3 C A 7: 27,238,877 (GRCm39) M190I probably benign Het
Plscr4 T G 9: 92,372,099 (GRCm39) I290S probably damaging Het
Ppip5k2 T C 1: 97,651,531 (GRCm39) D928G possibly damaging Het
Ppp1r13l T A 7: 19,102,536 (GRCm39) L15Q probably damaging Het
Prorp T A 12: 55,351,117 (GRCm39) I142N possibly damaging Het
Ptpn14 C A 1: 189,571,699 (GRCm39) S263R possibly damaging Het
Sema7a G A 9: 57,862,182 (GRCm39) V178I possibly damaging Het
Sesn2 A T 4: 132,224,381 (GRCm39) Y342* probably null Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Sltm A G 9: 70,450,314 (GRCm39) N38S possibly damaging Het
Smg1 T C 7: 117,753,845 (GRCm39) probably benign Het
Spsb1 A T 4: 149,991,367 (GRCm39) V67E probably damaging Het
Suox A G 10: 128,506,408 (GRCm39) V540A possibly damaging Het
Tbc1d12 T A 19: 38,899,529 (GRCm39) I483N probably damaging Het
Tbcb A T 7: 29,923,924 (GRCm39) D198E possibly damaging Het
Tbce T C 13: 14,194,294 (GRCm39) K122E probably benign Het
Tcap T A 11: 98,275,205 (GRCm39) L113H probably damaging Het
Thsd7a A T 6: 12,321,040 (GRCm39) I1545N probably damaging Het
Tmed10 T C 12: 85,421,277 (GRCm39) T55A possibly damaging Het
Tmem268 T A 4: 63,498,180 (GRCm39) V200D probably damaging Het
Tmem45b A C 9: 31,342,651 (GRCm39) I50M probably damaging Het
Trp53bp2 T C 1: 182,286,468 (GRCm39) W1103R probably damaging Het
Ttn C T 2: 76,594,377 (GRCm39) V20524M probably damaging Het
Ulk2 A T 11: 61,703,564 (GRCm39) N379K probably benign Het
Vmn1r59 A G 7: 5,457,553 (GRCm39) V69A probably benign Het
Vmn2r10 A T 5: 109,149,861 (GRCm39) Y394* probably null Het
Zfp212 T C 6: 47,908,475 (GRCm39) S485P probably benign Het
Zfp512b A T 2: 181,227,528 (GRCm39) C776S probably damaging Het
Zfp518b A G 5: 38,829,084 (GRCm39) Y974H probably damaging 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
R1543:Lin7a UTSW 10 107,247,930 (GRCm39) missense possibly damaging 0.46
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

Sequencing Primer
Posted On 2014-06-23