Incidental Mutation 'IGL01479:Tmem59l'
ID88539
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem59l
Ensembl Gene ENSMUSG00000035964
Gene Nametransmembrane protein 59-like
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #IGL01479
Quality Score
Status
Chromosome8
Chromosomal Location70483867-70487358 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 70486098 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 111 (R111Q)
Ref Sequence ENSEMBL: ENSMUSP00000043659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045286]
Predicted Effect probably benign
Transcript: ENSMUST00000045286
AA Change: R111Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000043659
Gene: ENSMUSG00000035964
AA Change: R111Q

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
Coding Region Coverage
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 T C 13: 4,272,935 K225R probably benign Het
Amn C A 12: 111,271,793 A47E probably damaging Het
Arhgef1 T C 7: 24,912,603 I137T probably benign Het
Cep57l1 T C 10: 41,728,639 K165E possibly damaging Het
Chfr A G 5: 110,144,993 probably benign Het
Dnah9 A G 11: 65,955,717 V2923A probably benign Het
Dnaja2 T C 8: 85,553,951 Y35C probably damaging Het
Dnajc2 T C 5: 21,757,893 T481A probably damaging Het
Foxred2 A G 15: 77,952,289 probably null Het
Gin1 C T 1: 97,792,372 T364I possibly damaging Het
Glt8d2 C T 10: 82,660,736 V163I probably damaging Het
Gm10118 T C 10: 63,926,820 probably benign Het
Hps5 C T 7: 46,762,942 probably null Het
Kdm4c A G 4: 74,343,501 K638E probably benign Het
L3mbtl2 A G 15: 81,676,392 T285A probably benign Het
Mab21l1 A G 3: 55,783,832 Y280C probably damaging Het
Mcoln2 T A 3: 146,175,652 probably benign Het
Myo9b G T 8: 71,359,342 R1926L probably damaging Het
Rrp12 A G 19: 41,865,202 V1251A probably benign Het
Rtn4rl1 A G 11: 75,265,342 D200G probably damaging Het
Sbsn G A 7: 30,752,357 A266T possibly damaging Het
Sgca A T 11: 94,963,378 C335* probably null Het
Spag1 T C 15: 36,233,199 probably benign Het
Sult6b1 A T 17: 78,905,576 V82D probably benign Het
Tigit T C 16: 43,659,522 T137A probably benign Het
Tmem125 G A 4: 118,541,623 Q204* probably null Het
Vmn2r95 G A 17: 18,443,862 G448R probably damaging Het
Zfp64 T C 2: 168,951,679 H49R probably damaging Het
Other mutations in Tmem59l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00903:Tmem59l APN 8 70485665 splice site probably benign
IGL01783:Tmem59l APN 8 70487224 missense probably damaging 1.00
IGL01998:Tmem59l APN 8 70484781 missense probably benign 0.16
R0973:Tmem59l UTSW 8 70486060 missense possibly damaging 0.93
R0973:Tmem59l UTSW 8 70486060 missense possibly damaging 0.93
R0974:Tmem59l UTSW 8 70486060 missense possibly damaging 0.93
R1201:Tmem59l UTSW 8 70484387 nonsense probably null
R1540:Tmem59l UTSW 8 70485154 missense probably benign 0.05
R1775:Tmem59l UTSW 8 70486253 missense probably damaging 1.00
R2217:Tmem59l UTSW 8 70487301 missense unknown
R2238:Tmem59l UTSW 8 70485122 missense probably damaging 0.99
R2313:Tmem59l UTSW 8 70487301 missense unknown
R2315:Tmem59l UTSW 8 70487301 missense unknown
R2969:Tmem59l UTSW 8 70487301 missense unknown
R2970:Tmem59l UTSW 8 70487301 missense unknown
R3011:Tmem59l UTSW 8 70486237 missense probably damaging 1.00
R3725:Tmem59l UTSW 8 70487301 missense unknown
R3726:Tmem59l UTSW 8 70487301 missense unknown
R3774:Tmem59l UTSW 8 70487301 missense unknown
R3775:Tmem59l UTSW 8 70487301 missense unknown
R3826:Tmem59l UTSW 8 70487301 missense unknown
R3827:Tmem59l UTSW 8 70487301 missense unknown
R3828:Tmem59l UTSW 8 70487301 missense unknown
R3829:Tmem59l UTSW 8 70487301 missense unknown
R3851:Tmem59l UTSW 8 70487301 missense unknown
R3943:Tmem59l UTSW 8 70487301 missense unknown
R3944:Tmem59l UTSW 8 70487301 missense unknown
R4064:Tmem59l UTSW 8 70485719 missense probably damaging 1.00
R4409:Tmem59l UTSW 8 70487301 missense unknown
R4410:Tmem59l UTSW 8 70487301 missense unknown
R4422:Tmem59l UTSW 8 70486099 missense probably damaging 0.98
R4470:Tmem59l UTSW 8 70487301 missense unknown
R4471:Tmem59l UTSW 8 70487301 missense unknown
R4767:Tmem59l UTSW 8 70486098 missense probably benign 0.00
R5321:Tmem59l UTSW 8 70487215 missense probably damaging 1.00
R6130:Tmem59l UTSW 8 70484605 missense probably damaging 1.00
R6527:Tmem59l UTSW 8 70486125 missense probably damaging 1.00
R6603:Tmem59l UTSW 8 70486356 missense probably benign 0.31
R6750:Tmem59l UTSW 8 70486372 missense probably benign 0.34
Posted On2013-11-18