Incidental Mutation 'R2313:Tmem59l'
ID 245379
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 # R2313 (G1)
Quality Score 123
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: 97.4%
  • 20x: 95.1%
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox5 T A 6: 116,390,822 (GRCm39) D443V probably benign Het
Ankrd53 A T 6: 83,740,662 (GRCm39) H95L probably damaging Het
Chrnb3 A G 8: 27,883,809 (GRCm39) Y182C probably damaging Het
Cln5 C T 14: 103,309,182 (GRCm39) R79* probably null Het
Cntn3 C A 6: 102,180,889 (GRCm39) V769L probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Il1r1 T C 1: 40,352,470 (GRCm39) S550P probably benign Het
Klra7 T A 6: 130,205,505 (GRCm39) T132S probably benign Het
Lrch3 A G 16: 32,782,045 (GRCm39) N273S probably damaging Het
Lrriq3 A T 3: 154,869,660 (GRCm39) R328S probably benign Het
Mpp2 T C 11: 101,952,898 (GRCm39) E318G possibly damaging Het
Or4c122 C A 2: 89,079,285 (GRCm39) C239F probably damaging Het
Or4n4 G A 14: 50,519,431 (GRCm39) S93F probably damaging Het
Pglyrp2 A T 17: 32,637,673 (GRCm39) D118E probably damaging Het
Ppp4c A G 7: 126,386,629 (GRCm39) S153P probably damaging Het
Ptpn13 A G 5: 103,712,027 (GRCm39) S1642G probably damaging Het
Unc13d A G 11: 115,954,560 (GRCm39) F1016S probably damaging Het
Vwa8 C G 14: 79,149,658 (GRCm39) T140S probably damaging Het
Wdfy3 A G 5: 102,037,150 (GRCm39) F2046L probably damaging Het
Zfp788 A G 7: 41,298,312 (GRCm39) H316R probably damaging Het
Zfp994 T A 17: 22,420,266 (GRCm39) I228F probably 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
R2315: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'- TTCCATCTGAGGGTCCTACAC -3'
(R):5'- ATCCAAGTCCGGTCAAAGAG -3'

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