Incidental Mutation 'IGL02801:Txlna'
ID 360204
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Txlna
Ensembl Gene ENSMUSG00000053841
Gene Name taxilin alpha
Synonyms 2600010N21Rik, Txln, IL14
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # IGL02801
Quality Score
Status
Chromosome 4
Chromosomal Location 129519871-129534858 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129534201 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 5 (D5G)
Ref Sequence ENSEMBL: ENSMUSP00000122382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046425] [ENSMUST00000084264] [ENSMUST00000102590] [ENSMUST00000130017] [ENSMUST00000132217] [ENSMUST00000133803] [ENSMUST00000154105]
AlphaFold Q6PAM1
Predicted Effect probably damaging
Transcript: ENSMUST00000046425
AA Change: D5G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000042153
Gene: ENSMUSG00000053841
AA Change: D5G

DomainStartEndE-ValueType
low complexity region 91 107 N/A INTRINSIC
Pfam:Taxilin 169 478 9.1e-120 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000084264
AA Change: D5G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000081285
Gene: ENSMUSG00000053841
AA Change: D5G

DomainStartEndE-ValueType
low complexity region 91 107 N/A INTRINSIC
Pfam:Taxilin 166 478 3.9e-122 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102590
SMART Domains Protein: ENSMUSP00000099650
Gene: ENSMUSG00000003731

DomainStartEndE-ValueType
Pfam:IBB 9 102 4.4e-27 PFAM
ARM 112 154 2.46e-4 SMART
ARM 156 196 6.73e-11 SMART
ARM 198 239 3.19e-3 SMART
ARM 242 281 6.64e-1 SMART
ARM 283 323 1.16e-5 SMART
ARM 325 365 1.98e-8 SMART
ARM 367 407 6.68e-6 SMART
ARM 410 450 1.89e-5 SMART
Pfam:Arm_3 464 514 5.3e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000130017
AA Change: D5G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000132217
AA Change: D5G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118301
Gene: ENSMUSG00000053841
AA Change: D5G

DomainStartEndE-ValueType
low complexity region 91 107 N/A INTRINSIC
Pfam:Taxilin 166 248 3.2e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000133803
AA Change: D5G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000117368
Gene: ENSMUSG00000053841
AA Change: D5G

DomainStartEndE-ValueType
low complexity region 91 107 N/A INTRINSIC
Pfam:Taxilin 166 296 2.6e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142577
Predicted Effect probably damaging
Transcript: ENSMUST00000154105
AA Change: D5G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122382
Gene: ENSMUSG00000053841
AA Change: D5G

DomainStartEndE-ValueType
low complexity region 91 107 N/A INTRINSIC
Pfam:Taxilin 166 254 2.7e-28 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap5 A T 12: 76,375,769 (GRCm39) K400N probably benign Het
Aox1 A T 1: 58,393,336 (GRCm39) I1193F probably damaging Het
Arhgef16 A T 4: 154,375,964 (GRCm39) L10Q probably damaging Het
Arl10 T C 13: 54,723,696 (GRCm39) V106A probably benign Het
Bmi1 T C 2: 18,686,692 (GRCm39) Y24H probably damaging Het
Cd163 T A 6: 124,297,488 (GRCm39) I878K probably benign Het
Col12a1 A G 9: 79,515,696 (GRCm39) probably null Het
Csmd2 T C 4: 128,445,868 (GRCm39) probably null Het
Dcp2 G T 18: 44,550,778 (GRCm39) M417I probably damaging Het
Ddx11 T A 17: 66,455,028 (GRCm39) C662S probably benign Het
Dhx29 G A 13: 113,101,180 (GRCm39) C1241Y probably damaging Het
Dnajc6 C T 4: 101,455,010 (GRCm39) P37L probably benign Het
Dqx1 A G 6: 83,037,476 (GRCm39) probably null Het
Dzip1 T A 14: 119,123,067 (GRCm39) K643* probably null Het
Ecel1 A G 1: 87,079,725 (GRCm39) S463P probably damaging Het
Eml5 A G 12: 98,784,104 (GRCm39) V1361A possibly damaging Het
Fads2 C A 19: 10,060,009 (GRCm39) A222S possibly damaging Het
Fancd2 A G 6: 113,570,278 (GRCm39) N1410D probably benign Het
Fbxw16 A G 9: 109,270,144 (GRCm39) F199S possibly damaging Het
Frem2 A G 3: 53,559,596 (GRCm39) V1637A possibly damaging Het
Gabrg2 A G 11: 41,803,220 (GRCm39) S442P probably damaging Het
Gprin3 T C 6: 59,331,966 (GRCm39) T114A possibly damaging Het
Hoxd8 A G 2: 74,536,912 (GRCm39) E27G probably damaging Het
Isl2 A G 9: 55,452,816 (GRCm39) probably null Het
Lamc2 T A 1: 153,012,529 (GRCm39) H715L probably benign Het
Lrif1 T C 3: 106,641,930 (GRCm39) V102A possibly damaging Het
Lrrc39 A G 3: 116,371,995 (GRCm39) N254S possibly damaging Het
Med13l T C 5: 118,883,178 (GRCm39) W1346R probably damaging Het
Melk T C 4: 44,360,930 (GRCm39) I570T probably damaging Het
Mlkl G A 8: 112,043,064 (GRCm39) T361M probably benign Het
Myo1f T A 17: 33,797,111 (GRCm39) M94K probably damaging Het
Naip1 A G 13: 100,580,876 (GRCm39) C124R probably damaging Het
Nek1 G A 8: 61,574,095 (GRCm39) probably null Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Pde1c G T 6: 56,150,651 (GRCm39) N289K probably damaging Het
Pfas G A 11: 68,879,103 (GRCm39) probably benign Het
Pms2 A T 5: 143,862,653 (GRCm39) I587F probably benign Het
Ppargc1b T C 18: 61,440,755 (GRCm39) E721G possibly damaging Het
Ppp2r1b A G 9: 50,790,127 (GRCm39) I435V probably benign Het
Psip1 C T 4: 83,376,357 (GRCm39) S494N probably benign Het
Ranbp3 T C 17: 57,017,766 (GRCm39) V474A probably benign Het
Rnf220 C T 4: 117,130,448 (GRCm39) C259Y probably damaging Het
Sdr16c6 T C 4: 4,076,603 (GRCm39) I99V probably benign Het
Slc36a1 A T 11: 55,116,879 (GRCm39) I303F probably benign Het
Slc4a1 C T 11: 102,249,972 (GRCm39) probably null Het
Syncrip A T 9: 88,361,862 (GRCm39) D84E probably damaging Het
Tbc1d9b T C 11: 50,043,657 (GRCm39) Y593H probably damaging Het
Tenm2 G T 11: 35,937,857 (GRCm39) Y1605* probably null Het
Tmem135 T A 7: 88,803,333 (GRCm39) H280L probably benign Het
Tmem229a T A 6: 24,955,121 (GRCm39) Q211L probably benign Het
Vmn2r57 T C 7: 41,098,056 (GRCm39) I4V probably benign Het
Wdfy3 A G 5: 102,055,453 (GRCm39) L1539S probably damaging Het
Zdhhc14 T G 17: 5,777,094 (GRCm39) probably null Het
Other mutations in Txlna
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01126:Txlna APN 4 129,528,158 (GRCm39) unclassified probably benign
IGL01472:Txlna APN 4 129,525,908 (GRCm39) missense probably damaging 0.99
IGL02169:Txlna APN 4 129,523,406 (GRCm39) missense probably damaging 0.99
R0010:Txlna UTSW 4 129,522,879 (GRCm39) missense probably benign 0.30
R0010:Txlna UTSW 4 129,522,879 (GRCm39) missense probably benign 0.30
R0552:Txlna UTSW 4 129,522,984 (GRCm39) missense probably benign 0.31
R1961:Txlna UTSW 4 129,534,055 (GRCm39) missense probably benign
R2215:Txlna UTSW 4 129,533,111 (GRCm39) missense possibly damaging 0.89
R2279:Txlna UTSW 4 129,525,935 (GRCm39) missense probably damaging 1.00
R5356:Txlna UTSW 4 129,524,166 (GRCm39) missense probably damaging 1.00
R6354:Txlna UTSW 4 129,528,205 (GRCm39) missense probably damaging 1.00
R7208:Txlna UTSW 4 129,525,071 (GRCm39) critical splice donor site probably null
R7343:Txlna UTSW 4 129,525,953 (GRCm39) missense probably damaging 1.00
R7615:Txlna UTSW 4 129,524,112 (GRCm39) missense probably damaging 1.00
R7783:Txlna UTSW 4 129,525,950 (GRCm39) missense probably damaging 1.00
R7784:Txlna UTSW 4 129,525,950 (GRCm39) missense probably damaging 1.00
R8023:Txlna UTSW 4 129,533,278 (GRCm39) missense probably damaging 0.98
R8331:Txlna UTSW 4 129,533,279 (GRCm39) missense probably damaging 0.99
R9254:Txlna UTSW 4 129,530,900 (GRCm39) missense probably damaging 1.00
R9321:Txlna UTSW 4 129,528,246 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18