Incidental Mutation 'IGL02801:Txlna'
ID360204
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Txlna
Ensembl Gene ENSMUSG00000053841
Gene Nametaxilin alpha
Synonyms2600010N21Rik, Txln, IL14
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.219) question?
Stock #IGL02801
Quality Score
Status
Chromosome4
Chromosomal Location129626078-129641065 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 129640408 bp
ZygosityHeterozygous
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]
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: 76,328,995 K400N probably benign Het
Aox2 A T 1: 58,354,177 I1193F probably damaging Het
Arhgef16 A T 4: 154,291,507 L10Q probably damaging Het
Arl10 T C 13: 54,575,883 V106A probably benign Het
Bmi1 T C 2: 18,681,881 Y24H probably damaging Het
Cd163 T A 6: 124,320,529 I878K probably benign Het
Col12a1 A G 9: 79,608,414 probably null Het
Csmd2 T C 4: 128,552,075 probably null Het
Dcp2 G T 18: 44,417,711 M417I probably damaging Het
Ddx11 T A 17: 66,148,033 C662S probably benign Het
Dhx29 G A 13: 112,964,646 C1241Y probably damaging Het
Dnajc6 C T 4: 101,597,813 P37L probably benign Het
Dqx1 A G 6: 83,060,495 probably null Het
Dzip1 T A 14: 118,885,655 K643* probably null Het
Ecel1 A G 1: 87,152,003 S463P probably damaging Het
Eml5 A G 12: 98,817,845 V1361A possibly damaging Het
Fads2 C A 19: 10,082,645 A222S possibly damaging Het
Fancd2 A G 6: 113,593,317 N1410D probably benign Het
Fbxw16 A G 9: 109,441,076 F199S possibly damaging Het
Frem2 A G 3: 53,652,175 V1637A possibly damaging Het
Gabrg2 A G 11: 41,912,393 S442P probably damaging Het
Gprin3 T C 6: 59,354,981 T114A possibly damaging Het
Hoxd8 A G 2: 74,706,568 E27G probably damaging Het
Isl2 A G 9: 55,545,532 probably null Het
Lamc2 T A 1: 153,136,783 H715L probably benign Het
Lrif1 T C 3: 106,734,614 V102A possibly damaging Het
Lrrc39 A G 3: 116,578,346 N254S possibly damaging Het
Med13l T C 5: 118,745,113 W1346R probably damaging Het
Melk T C 4: 44,360,930 I570T probably damaging Het
Mlkl G A 8: 111,316,432 T361M probably benign Het
Myo1f T A 17: 33,578,137 M94K probably damaging Het
Naip1 A G 13: 100,444,368 C124R probably damaging Het
Nek1 G A 8: 61,121,061 probably null Het
Nrn1 C A 13: 36,730,106 probably null Het
Pde1c G T 6: 56,173,666 N289K probably damaging Het
Pfas G A 11: 68,988,277 probably benign Het
Pms2 A T 5: 143,925,835 I587F probably benign Het
Ppargc1b T C 18: 61,307,684 E721G possibly damaging Het
Ppp2r1b A G 9: 50,878,827 I435V probably benign Het
Psip1 C T 4: 83,458,120 S494N probably benign Het
Ranbp3 T C 17: 56,710,766 V474A probably benign Het
Rnf220 C T 4: 117,273,251 C259Y probably damaging Het
Sdr16c6 T C 4: 4,076,603 I99V probably benign Het
Slc36a1 A T 11: 55,226,053 I303F probably benign Het
Slc4a1 C T 11: 102,359,146 probably null Het
Syncrip A T 9: 88,479,809 D84E probably damaging Het
Tbc1d9b T C 11: 50,152,830 Y593H probably damaging Het
Tenm2 G T 11: 36,047,030 Y1605* probably null Het
Tmem135 T A 7: 89,154,125 H280L probably benign Het
Tmem229a T A 6: 24,955,122 Q211L probably benign Het
Vmn2r57 T C 7: 41,448,632 I4V probably benign Het
Wdfy3 A G 5: 101,907,587 L1539S probably damaging Het
Zdhhc14 T G 17: 5,726,819 probably null Het
Other mutations in Txlna
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01126:Txlna APN 4 129634365 unclassified probably benign
IGL01472:Txlna APN 4 129632115 missense probably damaging 0.99
IGL02169:Txlna APN 4 129629613 missense probably damaging 0.99
R0010:Txlna UTSW 4 129629086 missense probably benign 0.30
R0010:Txlna UTSW 4 129629086 missense probably benign 0.30
R0552:Txlna UTSW 4 129629191 missense probably benign 0.31
R1961:Txlna UTSW 4 129640262 missense probably benign
R2215:Txlna UTSW 4 129639318 missense possibly damaging 0.89
R2279:Txlna UTSW 4 129632142 missense probably damaging 1.00
R5356:Txlna UTSW 4 129630373 missense probably damaging 1.00
R6354:Txlna UTSW 4 129634412 missense probably damaging 1.00
R7208:Txlna UTSW 4 129631278 critical splice donor site probably null
R7343:Txlna UTSW 4 129632160 missense probably damaging 1.00
R7615:Txlna UTSW 4 129630319 missense probably damaging 1.00
R7783:Txlna UTSW 4 129632157 missense probably damaging 1.00
R7784:Txlna UTSW 4 129632157 missense probably damaging 1.00
Posted On2015-12-18