Incidental Mutation 'R9456:Lin7a'
ID 714589
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9456 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 107107547-107257335 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 107218483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 131 (P131L)
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: P131L

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000020057
Gene: ENSMUSG00000019906
AA Change: P131L

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: P9L

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000100916
Gene: ENSMUSG00000019906
AA Change: P9L

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: P9L

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.4%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd3 T C 18: 10,645,121 (GRCm39) D391G probably benign Het
Arhgdia A C 11: 120,470,068 (GRCm39) W202G probably damaging Het
Atp2a3 A T 11: 72,871,131 (GRCm39) D575V probably benign Het
Cep350 C A 1: 155,744,457 (GRCm39) V2121L probably benign Het
Clcn2 CCCGCCGCCGCCGCCGC CCCGCCGCCGCCGC 16: 20,534,702 (GRCm39) probably benign Het
Cldn9 A T 17: 23,902,556 (GRCm39) V23E probably damaging Het
Cltc G A 11: 86,593,237 (GRCm39) S1542F probably benign Het
Cmbl A G 15: 31,589,948 (GRCm39) D226G probably damaging Het
Dennd4b C T 3: 90,178,515 (GRCm39) T537I probably damaging Het
Dnah7b C A 1: 46,165,953 (GRCm39) D539E possibly damaging Het
Fam219a T C 4: 41,521,871 (GRCm39) T70A probably damaging Het
Fat4 T A 3: 38,942,571 (GRCm39) V488E possibly damaging Het
Gm3336 A G 8: 71,174,740 (GRCm39) *96W probably null Het
Hectd1 A G 12: 51,832,584 (GRCm39) I930T probably benign Het
Hmcn1 A T 1: 150,506,053 (GRCm39) C3824* probably null Het
Ift140 T C 17: 25,254,758 (GRCm39) F413L probably benign Het
Itfg1 A G 8: 86,565,566 (GRCm39) V90A probably benign Het
Jph4 A T 14: 55,351,090 (GRCm39) W309R probably damaging Het
Kdm2a C T 19: 4,393,141 (GRCm39) D405N Het
Klhl5 T C 5: 65,305,939 (GRCm39) F302S probably damaging Het
Klk1b8 T C 7: 43,453,177 (GRCm39) M256T probably benign Het
Klre1 A T 6: 129,559,368 (GRCm39) R99S probably benign Het
Krt79 T C 15: 101,839,904 (GRCm39) T364A probably benign Het
Lrrc49 A G 9: 60,594,699 (GRCm39) Y9H probably benign Het
Lrrc8a T A 2: 30,145,663 (GRCm39) I159N probably damaging Het
Mdga2 T C 12: 66,615,532 (GRCm39) S692G probably benign Het
Myo15a G A 11: 60,392,668 (GRCm39) V1017M Het
Nol4 T C 18: 23,172,897 (GRCm39) D68G probably benign Het
Or4f53 T C 2: 111,088,348 (GRCm39) V296A probably benign Het
Or6c75 T C 10: 129,337,515 (GRCm39) V254A probably damaging Het
Pigw C A 11: 84,768,040 (GRCm39) A430S probably benign Het
Pla2g4c T C 7: 13,077,900 (GRCm39) L356P probably damaging Het
Prorp T C 12: 55,385,015 (GRCm39) V410A probably damaging Het
Prr5 A G 15: 84,585,682 (GRCm39) T226A probably benign Het
Pygo1 C T 9: 72,833,056 (GRCm39) probably benign Het
Rnf214 A G 9: 45,779,286 (GRCm39) I333T possibly damaging Het
Septin3 A G 15: 82,167,352 (GRCm39) I86V probably benign Het
Slc30a3 AGGGCTTACCTGAGCGG AGG 5: 31,246,889 (GRCm39) probably null Het
Socs5 C A 17: 87,442,266 (GRCm39) T402K probably damaging Het
Speer3 T A 5: 13,846,368 (GRCm39) N229K Het
Stk16 T C 1: 75,187,804 (GRCm39) probably benign Het
Taar7d T A 10: 23,903,287 (GRCm39) F56L probably benign Het
Tmprss2 C T 16: 97,392,669 (GRCm39) V93I probably benign Het
Tnpo2 G A 8: 85,774,015 (GRCm39) E350K probably benign Het
Tor1aip2 C T 1: 155,937,525 (GRCm39) P87S possibly damaging Het
Trgv7 A T 13: 19,362,385 (GRCm39) R25* probably null Het
Ush2a A G 1: 188,558,589 (GRCm39) E3606G probably benign Het
Zeb1 C T 18: 5,766,709 (GRCm39) Q407* probably null Het
Zfp609 A G 9: 65,611,125 (GRCm39) S613P Het
Zfp735 A G 11: 73,602,403 (GRCm39) N449S possibly 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
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
R9733:Lin7a UTSW 10 107,247,905 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- GCTAGAGAGATGTCTAAGACACTG -3'
(R):5'- CTGTACTGTAATCTCAACACTGGC -3'

Sequencing Primer
(F):5'- GAGATGTCTAAGACACTGTTTTCTG -3'
(R):5'- CTCAACACTGGCTTTAGTAATGGG -3'
Posted On 2022-06-15