Incidental Mutation 'IGL01022:Tmem259'
ID 53845
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem259
Ensembl Gene ENSMUSG00000013858
Gene Name transmembrane protein 259
Synonyms ORF61, membralin
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01022
Quality Score
Status
Chromosome 10
Chromosomal Location 79812954-79820159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79819808 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 22 (V22A)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004784] [ENSMUST00000052885] [ENSMUST00000105374]
AlphaFold Q8CIV2
Predicted Effect probably benign
Transcript: ENSMUST00000004784
SMART Domains Protein: ENSMUSP00000004784
Gene: ENSMUSG00000004665

DomainStartEndE-ValueType
CH 30 127 1.82e-22 SMART
Pfam:Calponin 166 190 6e-20 PFAM
Pfam:Calponin 206 230 6e-20 PFAM
Pfam:Calponin 245 268 2.6e-10 PFAM
low complexity region 276 294 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000052885
AA Change: V53A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000056792
Gene: ENSMUSG00000013858
AA Change: V53A

DomainStartEndE-ValueType
Pfam:Membralin 34 131 3.3e-44 PFAM
Pfam:Membralin 138 393 3.9e-130 PFAM
transmembrane domain 394 411 N/A INTRINSIC
low complexity region 455 470 N/A INTRINSIC
low complexity region 483 521 N/A INTRINSIC
low complexity region 531 544 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105374
SMART Domains Protein: ENSMUSP00000101013
Gene: ENSMUSG00000004665

DomainStartEndE-ValueType
CH 30 127 1.82e-22 SMART
Pfam:Calponin 130 152 7.6e-15 PFAM
Pfam:Calponin 167 192 4.1e-16 PFAM
Pfam:Calponin 206 230 6.4e-15 PFAM
low complexity region 237 255 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000124536
AA Change: V22A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119572
Gene: ENSMUSG00000013858
AA Change: V22A

DomainStartEndE-ValueType
Pfam:Membralin 4 101 1.6e-44 PFAM
Pfam:Membralin 108 297 7.7e-83 PFAM
Pfam:Membralin 316 387 5e-42 PFAM
transmembrane domain 388 405 N/A INTRINSIC
low complexity region 449 464 N/A INTRINSIC
low complexity region 477 515 N/A INTRINSIC
low complexity region 525 538 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179260
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts14 A G 10: 61,038,721 (GRCm39) S927P probably benign Het
Arfgef1 G T 1: 10,244,301 (GRCm39) F987L probably damaging Het
Asph A T 4: 9,601,344 (GRCm39) N191K possibly damaging Het
Bmpr1b A T 3: 141,577,099 (GRCm39) C71S probably damaging Het
Bod1l A T 5: 41,951,652 (GRCm39) S2920T probably damaging Het
Camta2 G A 11: 70,562,308 (GRCm39) R1030* probably null Het
Chd8 T C 14: 52,474,450 (GRCm39) T194A probably benign Het
Col9a3 A T 2: 180,258,227 (GRCm39) I549F probably damaging Het
Fstl4 A G 11: 53,077,568 (GRCm39) N775S probably benign Het
Gm10800 T A 2: 98,497,576 (GRCm39) probably benign Het
Gm5117 T A 8: 32,228,515 (GRCm39) noncoding transcript Het
Hap1 A G 11: 100,240,374 (GRCm39) L112P probably benign Het
Hcls1 C A 16: 36,771,488 (GRCm39) probably benign Het
Kmt2c A G 5: 25,507,699 (GRCm39) probably benign Het
Lct T A 1: 128,228,596 (GRCm39) I966L probably benign Het
Myo1h A T 5: 114,474,361 (GRCm39) I451F possibly damaging Het
Notch4 G A 17: 34,784,671 (GRCm39) C128Y probably damaging Het
Oca2 T A 7: 55,974,504 (GRCm39) N484K probably damaging Het
Or51f1e T G 7: 102,747,077 (GRCm39) L43R probably damaging Het
Or7a42 A T 10: 78,791,188 (GRCm39) I50F possibly damaging Het
Rprd2 T A 3: 95,671,066 (GRCm39) R1362* probably null Het
Sema3a C T 5: 13,523,433 (GRCm39) T134I probably damaging Het
Sfta2 C T 17: 35,961,336 (GRCm39) T74I possibly damaging Het
Slfn10-ps C T 11: 82,926,353 (GRCm39) noncoding transcript Het
Spag11a A T 8: 19,208,005 (GRCm39) Q15H probably damaging Het
Tbc1d22a G A 15: 86,185,756 (GRCm39) D282N probably damaging Het
Tmbim6 G A 15: 99,300,003 (GRCm39) V40M possibly damaging Het
Tnik T C 3: 28,679,377 (GRCm39) probably null Het
Unc13c T C 9: 73,424,610 (GRCm39) D2002G probably benign Het
Other mutations in Tmem259
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Tmem259 APN 10 79,815,568 (GRCm39) missense probably benign 0.12
IGL02113:Tmem259 APN 10 79,814,543 (GRCm39) missense probably benign 0.00
IGL02218:Tmem259 APN 10 79,814,151 (GRCm39) missense possibly damaging 0.91
IGL02272:Tmem259 APN 10 79,814,297 (GRCm39) missense probably damaging 1.00
IGL02648:Tmem259 APN 10 79,813,651 (GRCm39) missense probably damaging 1.00
IGL02735:Tmem259 APN 10 79,814,973 (GRCm39) missense probably damaging 1.00
R0244:Tmem259 UTSW 10 79,814,797 (GRCm39) missense probably damaging 1.00
R0535:Tmem259 UTSW 10 79,814,429 (GRCm39) missense probably damaging 1.00
R3824:Tmem259 UTSW 10 79,814,282 (GRCm39) missense possibly damaging 0.91
R3825:Tmem259 UTSW 10 79,814,282 (GRCm39) missense possibly damaging 0.91
R5564:Tmem259 UTSW 10 79,814,442 (GRCm39) splice site probably null
R6773:Tmem259 UTSW 10 79,813,422 (GRCm39) missense possibly damaging 0.95
R6979:Tmem259 UTSW 10 79,814,391 (GRCm39) missense possibly damaging 0.51
R7288:Tmem259 UTSW 10 79,814,300 (GRCm39) missense probably damaging 1.00
R7473:Tmem259 UTSW 10 79,815,506 (GRCm39) missense possibly damaging 0.48
R7677:Tmem259 UTSW 10 79,814,414 (GRCm39) missense probably damaging 1.00
R8531:Tmem259 UTSW 10 79,813,819 (GRCm39) missense probably damaging 0.98
R8826:Tmem259 UTSW 10 79,814,983 (GRCm39) missense probably damaging 1.00
Z1177:Tmem259 UTSW 10 79,814,785 (GRCm39) missense probably damaging 0.99
Posted On 2013-06-28