Incidental Mutation 'R1226:Lin7a'
ID 152241
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 039295-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1226 (G1)
Quality Score 131
Status Not validated
Chromosome 10
Chromosomal Location 107107547-107257335 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107107780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 20 (V20A)
Ref Sequence ENSEMBL: ENSMUSP00000020057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020057] [ENSMUST00000105280] [ENSMUST00000218031]
AlphaFold Q8JZS0
Predicted Effect probably benign
Transcript: ENSMUST00000020057
AA Change: V20A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020057
Gene: ENSMUSG00000019906
AA Change: V20A

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 probably benign
Transcript: ENSMUST00000105280
SMART Domains Protein: ENSMUSP00000100916
Gene: ENSMUSG00000019906

DomainStartEndE-ValueType
PDZ 1 68 8.27e-16 SMART
coiled coil region 69 93 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000218031
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.4%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Abcd2 G T 15: 91,075,246 (GRCm39) A189E probably benign Het
Ahcy T C 2: 154,906,817 (GRCm39) T159A probably benign Het
Arfgef2 T C 2: 166,669,560 (GRCm39) V84A probably damaging Het
Brwd1 G A 16: 95,832,748 (GRCm39) T1036M probably benign Het
Ccdc187 G T 2: 26,166,133 (GRCm39) S765R probably damaging Het
Cfap210 A G 2: 69,617,553 (GRCm39) M76T possibly damaging Het
Chd1l G A 3: 97,469,941 (GRCm39) R862* probably null Het
Crmp1 A G 5: 37,430,778 (GRCm39) D71G probably damaging Het
Ctif CTGTGTCCGGTGT CTGT 18: 75,654,650 (GRCm39) probably benign Het
Ctsb A C 14: 63,379,189 (GRCm39) Y267S probably damaging Het
Cyp4a12b T A 4: 115,290,164 (GRCm39) I239N possibly damaging Het
Dna2 T C 10: 62,796,203 (GRCm39) V544A possibly damaging Het
Dnhd1 T A 7: 105,346,106 (GRCm39) F2364Y probably damaging Het
Fsip2 A T 2: 82,811,355 (GRCm39) E2558V probably damaging Het
Gm10061 A C 16: 88,948,169 (GRCm39) Y48S unknown Het
Herc1 T A 9: 66,323,545 (GRCm39) M1353K probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lsr T A 7: 30,671,308 (GRCm39) I142F probably damaging Het
Mei1 C T 15: 81,964,285 (GRCm39) T275I possibly damaging Het
Mon2 A G 10: 122,838,724 (GRCm39) V1593A probably benign Het
Mrpl32 A G 13: 14,786,096 (GRCm39) I74T probably benign Het
Nek11 C T 9: 105,270,091 (GRCm39) V44I probably damaging Het
Noa1 A G 5: 77,455,402 (GRCm39) V438A possibly damaging Het
Or5an1c A C 19: 12,218,950 (GRCm39) I25R probably benign Het
Or7g16 C T 9: 18,727,266 (GRCm39) C108Y probably benign Het
Or8g18 G C 9: 39,149,547 (GRCm39) P58A probably benign Het
Pcdhb17 T C 18: 37,620,313 (GRCm39) L701P probably damaging Het
Pde11a G A 2: 75,988,698 (GRCm39) S481L probably benign Het
Prkdc T C 16: 15,491,861 (GRCm39) I602T possibly damaging Het
Ptprh T A 7: 4,606,091 (GRCm39) R3* probably null Het
Reln A G 5: 22,115,864 (GRCm39) L3048P probably damaging Het
Slc6a11 T A 6: 114,171,624 (GRCm39) I265N possibly damaging Het
Sorbs2 T C 8: 46,248,656 (GRCm39) S636P probably damaging Het
Supt5 T C 7: 28,028,172 (GRCm39) I44V probably benign Het
Tdrd6 T A 17: 43,937,523 (GRCm39) E1175V possibly damaging Het
Tnxb A C 17: 34,907,903 (GRCm39) T1316P probably damaging Het
Ufc1 A C 1: 171,116,810 (GRCm39) D119E probably benign Het
Vmn1r220 A G 13: 23,368,294 (GRCm39) F134S probably damaging Het
Zfp106 A G 2: 120,354,560 (GRCm39) S1404P probably damaging Het
Zfp866 A G 8: 70,218,940 (GRCm39) F227L probably damaging Het
Zfyve28 A T 5: 34,374,408 (GRCm39) H535Q probably benign Het
Other mutations in Lin7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01951:Lin7a APN 10 107,247,886 (GRCm39) missense possibly damaging 0.94
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
Predicted Primers PCR Primer
(F):5'- TGAGTCTCCATCTGGCTACCAACC -3'
(R):5'- TGAAACATTCGAGCCCTGGCAAG -3'

Sequencing Primer
(F):5'- ACCCGAGctttcttctcctc -3'
(R):5'- AAGAAAGTGTCCTGCTCCG -3'
Posted On 2014-01-29