Incidental Mutation 'R5731:Tm4sf20'
ID 452740
Institutional Source Beutler Lab
Gene Symbol Tm4sf20
Ensembl Gene ENSMUSG00000026149
Gene Name transmembrane 4 L six family member 20
Synonyms 1810018L02Rik
MMRRC Submission 043192-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.029) question?
Stock # R5731 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 82734370-82746182 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 82738013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 93 (I93L)
Ref Sequence ENSEMBL: ENSMUSP00000027331 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027331]
AlphaFold Q9CQY8
Predicted Effect probably benign
Transcript: ENSMUST00000027331
AA Change: I93L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000027331
Gene: ENSMUSG00000026149
AA Change: I93L

DomainStartEndE-ValueType
Pfam:L6_membrane 2 220 8.1e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138787
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.6%
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 a member of the four-transmembrane L6 superfamily. Members of this family function in various cellular processes including cell proliferation, motility, and adhesion via their interactions with integrins. In human brain tissue, this gene is expressed at high levels in the parietal lobe, occipital lobe, hippocampus, pons, white matter, corpus callosum, and cerebellum. Knockout of the homologous gene in mouse results in a neurobehavioral phenotype with suggested enhanced motor coordination. A deletion mutation in the human gene is associated with specific language impairment-5. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5930422O12Rik A G 8: 33,919,353 (GRCm39) I58V unknown Het
Abca4 G T 3: 121,926,242 (GRCm39) G18V probably damaging Het
Arl9 T C 5: 77,154,374 (GRCm39) V34A possibly damaging Het
Bpifb9a A T 2: 154,104,163 (GRCm39) N202I possibly damaging Het
C1qtnf6 A T 15: 78,411,514 (GRCm39) M54K probably benign Het
Ccdc62 T C 5: 124,089,352 (GRCm39) probably null Het
Cd177 A G 7: 24,443,846 (GRCm39) C751R probably damaging Het
Clcn3 T C 8: 61,375,923 (GRCm39) I657V possibly damaging Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Dag1 T C 9: 108,095,310 (GRCm39) T61A probably benign Het
Fam184b C T 5: 45,710,471 (GRCm39) G553E probably benign Het
Fkbp15 G C 4: 62,225,166 (GRCm39) A831G probably benign Het
Flt1 T C 5: 147,614,962 (GRCm39) H328R probably benign Het
Fmnl2 T A 2: 53,008,149 (GRCm39) probably null Het
Gm5431 A G 11: 48,785,275 (GRCm39) Y89H probably damaging Het
Gprin2 C A 14: 33,917,397 (GRCm39) L124F probably damaging Het
Hacd2 T A 16: 34,922,374 (GRCm39) Y188N probably damaging Het
Itgad A G 7: 127,797,726 (GRCm39) T950A probably benign Het
Kit T A 5: 75,815,075 (GRCm39) I933N possibly damaging Het
Klhl11 A T 11: 100,354,589 (GRCm39) Y411N probably damaging Het
N4bp2 T C 5: 65,966,500 (GRCm39) S1313P probably damaging Het
Neurog1 T C 13: 56,399,354 (GRCm39) K131R probably damaging Het
Or11h6 T C 14: 50,880,248 (GRCm39) L170P probably damaging Het
Or5d16 T A 2: 87,773,771 (GRCm39) H67L possibly damaging Het
Otogl T C 10: 107,717,325 (GRCm39) D382G probably damaging Het
Pcdh1 A C 18: 38,331,651 (GRCm39) F590V probably damaging Het
Pcdha5 G A 18: 37,093,820 (GRCm39) V110M probably damaging Het
Pdlim3 A G 8: 46,368,284 (GRCm39) N261D probably benign Het
Pou4f1 T C 14: 104,703,347 (GRCm39) T362A unknown Het
Prlr A G 15: 10,314,221 (GRCm39) T9A probably benign Het
Psmb7 T C 2: 38,478,289 (GRCm39) Y245C probably damaging Het
Ryr3 T A 2: 112,471,917 (GRCm39) D4515V probably damaging Het
Svop T C 5: 114,198,124 (GRCm39) K149E probably damaging Het
Tlr3 A G 8: 45,851,157 (GRCm39) V56A probably benign Het
Ugt2b5 T A 5: 87,288,111 (GRCm39) R19* probably null Het
Vmn2r28 G T 7: 5,491,668 (GRCm39) T193K probably benign Het
Vps13c A G 9: 67,802,661 (GRCm39) D654G probably damaging Het
Zfyve16 T A 13: 92,644,701 (GRCm39) Q1167L probably benign Het
Other mutations in Tm4sf20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03365:Tm4sf20 APN 1 82,745,948 (GRCm39) unclassified probably benign
R1993:Tm4sf20 UTSW 1 82,737,938 (GRCm39) missense probably benign 0.18
R4944:Tm4sf20 UTSW 1 82,746,084 (GRCm39) missense probably benign 0.00
R5698:Tm4sf20 UTSW 1 82,745,958 (GRCm39) missense probably benign 0.04
R9443:Tm4sf20 UTSW 1 82,746,090 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GTCCCAGTAGTCAGAACGGAG -3'
(R):5'- CACATGTACAAATACCATGCATGT -3'

Sequencing Primer
(F):5'- GCTTAGCATTATACACCACAGTTAGC -3'
(R):5'- TACATCAACAAATAAGGGGGAAAAAG -3'
Posted On 2017-01-03