Incidental Mutation 'IGL01998:Tmem59l'
ID 182950
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01998
Quality Score
Status
Chromosome 8
Chromosomal Location 70936517-70940008 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 70937431 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 239 (V239I)
Ref Sequence ENSEMBL: ENSMUSP00000043659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045286]
AlphaFold Q7TNI2
Predicted Effect probably benign
Transcript: ENSMUST00000045286
AA Change: V239I

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000043659
Gene: ENSMUSG00000035964
AA Change: V239I

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arpc3 T C 5: 122,541,470 (GRCm39) C78R probably damaging Het
Atp6v0b A G 4: 117,743,263 (GRCm39) probably null Het
B3gnt8 A G 7: 25,328,203 (GRCm39) Y211C probably damaging Het
Birc6 T C 17: 74,886,880 (GRCm39) I736T probably benign Het
Bltp1 T C 3: 37,011,165 (GRCm39) S1788P possibly damaging Het
Bpifb9a T C 2: 154,110,120 (GRCm39) probably null Het
C3ar1 A T 6: 122,827,899 (GRCm39) M106K probably damaging Het
C9orf72 A T 4: 35,194,179 (GRCm39) D205E probably benign Het
Cab39l T A 14: 59,734,344 (GRCm39) L21Q probably damaging Het
Casp1 A T 9: 5,303,043 (GRCm39) I166F probably damaging Het
Cd180 A G 13: 102,841,722 (GRCm39) E256G probably damaging Het
Clca4a T C 3: 144,663,887 (GRCm39) T519A probably damaging Het
Clstn3 A T 6: 124,435,622 (GRCm39) L233Q probably damaging Het
Crlf3 G A 11: 79,948,845 (GRCm39) probably benign Het
Depdc5 T C 5: 33,102,495 (GRCm39) probably benign Het
Drc7 T A 8: 95,785,821 (GRCm39) C226S probably damaging Het
Epha5 T A 5: 84,232,593 (GRCm39) D807V probably damaging Het
Fat2 A G 11: 55,187,021 (GRCm39) L1275P probably benign Het
Fv1 T C 4: 147,953,784 (GRCm39) C117R possibly damaging Het
Ighg2b C A 12: 113,270,709 (GRCm39) M140I unknown Het
Klra5 A T 6: 129,883,676 (GRCm39) Y60* probably null Het
Lmtk2 C T 5: 144,112,883 (GRCm39) T1201I probably damaging Het
Ncapd2 A T 6: 125,150,078 (GRCm39) S917T probably benign Het
Ncapd2 A T 6: 125,146,896 (GRCm39) L1230H probably damaging Het
Nfx1 T A 4: 41,004,353 (GRCm39) I708N probably damaging Het
Notch2 A T 3: 98,050,422 (GRCm39) D1899V probably damaging Het
Npepl1 T A 2: 173,957,993 (GRCm39) probably benign Het
Nps T A 7: 134,870,481 (GRCm39) probably benign Het
Nrg1 T C 8: 32,408,162 (GRCm39) S24G probably damaging Het
Or1j20 A G 2: 36,759,658 (GRCm39) N27D probably benign Het
Or2ag16 G A 7: 106,351,758 (GRCm39) T279M possibly damaging Het
Or2t48 A T 11: 58,420,403 (GRCm39) Y136* probably null Het
Or4k2 C A 14: 50,424,105 (GRCm39) V190L probably benign Het
Pigx G T 16: 31,903,428 (GRCm39) T211K probably benign Het
Pink1 A G 4: 138,048,053 (GRCm39) I223T probably damaging Het
Plat G A 8: 23,257,163 (GRCm39) A15T probably benign Het
Ptges2 G A 2: 32,291,542 (GRCm39) A310T possibly damaging Het
Rsl1d1 A G 16: 11,012,509 (GRCm39) S306P possibly damaging Het
Rxfp1 T C 3: 79,567,403 (GRCm39) K316E probably benign Het
Scn10a A G 9: 119,438,742 (GRCm39) I1708T probably damaging Het
Sdk2 A T 11: 113,729,358 (GRCm39) F1073Y probably damaging Het
Sp100 A G 1: 85,594,650 (GRCm39) D170G probably benign Het
Spock1 A T 13: 57,583,994 (GRCm39) probably benign Het
Strbp A G 2: 37,515,297 (GRCm39) L243P probably damaging Het
Tex55 A T 16: 38,648,586 (GRCm39) D174E probably benign Het
Tgm5 T A 2: 120,882,920 (GRCm39) T446S probably damaging Het
Trav8-1 A T 14: 53,707,662 (GRCm39) T101S probably benign Het
Triml1 T C 8: 43,594,350 (GRCm39) D27G probably damaging Het
Vmn2r54 T C 7: 12,349,227 (GRCm39) E785G probably benign Het
Vps13c A G 9: 67,862,350 (GRCm39) probably null Het
Wwp2 C T 8: 108,276,153 (GRCm39) R64C probably damaging Het
Zfp608 T C 18: 55,024,890 (GRCm39) H1460R 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
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
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
Posted On 2014-05-07