Incidental Mutation 'R2315:Tmem59l'
ID 245457
Institutional Source Beutler Lab
Gene Symbol Tmem59l
Ensembl Gene ENSMUSG00000035964
Gene Name transmembrane protein 59-like
Synonyms 5330410G16Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R2315 (G1)
Quality Score 109
Status Not validated
Chromosome 8
Chromosomal Location 70936517-70940008 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70939951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 6 (L6S)
Ref Sequence ENSEMBL: ENSMUSP00000043659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045286]
AlphaFold Q7TNI2
Predicted Effect unknown
Transcript: ENSMUST00000045286
AA Change: L6S
SMART Domains Protein: ENSMUSP00000043659
Gene: ENSMUSG00000035964
AA Change: L6S

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 33 41 N/A INTRINSIC
low complexity region 44 60 N/A INTRINSIC
Pfam:BSMAP 72 278 1e-67 PFAM
low complexity region 311 319 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210365
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211264
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a predicted type-I membrane glycoprotein. The encoded protein may play a role in functioning of the central nervous system. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cnot1 C T 8: 96,475,690 (GRCm39) G995R probably damaging Het
Cntn2 T C 1: 132,450,735 (GRCm39) T547A probably benign Het
Ddx20 A G 3: 105,586,015 (GRCm39) Y777H probably damaging Het
Fbxo32 T C 15: 58,071,431 (GRCm39) N50S probably benign Het
Fsip2 G C 2: 82,805,437 (GRCm39) M585I probably benign Het
Gm13941 A G 2: 110,935,162 (GRCm39) S23P unknown Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Hoxa2 A G 6: 52,139,871 (GRCm39) probably benign Het
Hydin A G 8: 111,124,676 (GRCm39) I562V probably benign Het
Kif20b T A 19: 34,908,999 (GRCm39) L179M probably damaging Het
Myl3 T C 9: 110,595,809 (GRCm39) L102P probably damaging Het
Pag1 C T 3: 9,764,824 (GRCm39) V110I probably damaging Het
Scube2 A G 7: 109,403,908 (GRCm39) F861L probably damaging Het
Serpina3n A T 12: 104,378,627 (GRCm39) I316F possibly damaging Het
Sez6l A G 5: 112,612,463 (GRCm39) S493P probably benign Het
Sult1c2 T A 17: 54,145,521 (GRCm39) T52S possibly damaging Het
Vmn2r17 A C 5: 109,575,897 (GRCm39) D256A probably damaging Het
Xylb T C 9: 119,188,335 (GRCm39) F47S probably benign Het
Zim1 T C 7: 6,680,067 (GRCm39) D532G possibly damaging Het
Other mutations in Tmem59l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00903:Tmem59l APN 8 70,938,315 (GRCm39) splice site probably benign
IGL01479:Tmem59l APN 8 70,938,748 (GRCm39) missense probably benign 0.00
IGL01783:Tmem59l APN 8 70,939,874 (GRCm39) missense probably damaging 1.00
IGL01998:Tmem59l APN 8 70,937,431 (GRCm39) missense probably benign 0.16
R0973:Tmem59l UTSW 8 70,938,710 (GRCm39) missense possibly damaging 0.93
R0973:Tmem59l UTSW 8 70,938,710 (GRCm39) missense possibly damaging 0.93
R0974:Tmem59l UTSW 8 70,938,710 (GRCm39) missense possibly damaging 0.93
R1201:Tmem59l UTSW 8 70,937,037 (GRCm39) nonsense probably null
R1540:Tmem59l UTSW 8 70,937,804 (GRCm39) missense probably benign 0.05
R1775:Tmem59l UTSW 8 70,938,903 (GRCm39) missense probably damaging 1.00
R2217:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R2238:Tmem59l UTSW 8 70,937,772 (GRCm39) missense probably damaging 0.99
R2313:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R2969:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R2970:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R3011:Tmem59l UTSW 8 70,938,887 (GRCm39) missense probably damaging 1.00
R3725:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R3726:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R3774:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R3775:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R3826:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R3827:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R3828:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R3829:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R3851:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R3943:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R3944:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R4064:Tmem59l UTSW 8 70,938,369 (GRCm39) missense probably damaging 1.00
R4409:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R4410:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R4422:Tmem59l UTSW 8 70,938,749 (GRCm39) missense probably damaging 0.98
R4470:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R4471:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R4767:Tmem59l UTSW 8 70,938,748 (GRCm39) missense probably benign 0.00
R5321:Tmem59l UTSW 8 70,939,865 (GRCm39) missense probably damaging 1.00
R6130:Tmem59l UTSW 8 70,937,255 (GRCm39) missense probably damaging 1.00
R6527:Tmem59l UTSW 8 70,938,775 (GRCm39) missense probably damaging 1.00
R6603:Tmem59l UTSW 8 70,939,006 (GRCm39) missense probably benign 0.31
R6750:Tmem59l UTSW 8 70,939,022 (GRCm39) missense probably benign 0.34
R7542:Tmem59l UTSW 8 70,937,814 (GRCm39) missense possibly damaging 0.56
R8265:Tmem59l UTSW 8 70,938,426 (GRCm39) missense probably damaging 0.99
R9320:Tmem59l UTSW 8 70,937,822 (GRCm39) missense possibly damaging 0.74
Predicted Primers PCR Primer
(F):5'- TCCATCTGAGGGTCCTACAC -3'
(R):5'- AGATCCAAGTCCGGTCAAAG -3'

Sequencing Primer
(F):5'- AGGGTCCTACACTCAGGTC -3'
(R):5'- TCAGTGACGTCAACACC -3'
Posted On 2014-10-30