Incidental Mutation 'IGL00428:Tulp4'
ID5782
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tulp4
Ensembl Gene ENSMUSG00000034377
Gene Nametubby like protein 4
Synonyms2210038L17Rik, 1110057P05Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.373) question?
Stock #IGL00428
Quality Score
Status
Chromosome17
Chromosomal Location6106437-6251128 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 6139076 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 58 (T58A)
Ref Sequence ENSEMBL: ENSMUSP00000049248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039655] [ENSMUST00000142030] [ENSMUST00000149756]
Predicted Effect probably damaging
Transcript: ENSMUST00000039655
AA Change: T58A

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000049248
Gene: ENSMUSG00000034377
AA Change: T58A

DomainStartEndE-ValueType
WD40 71 110 2.49e-1 SMART
Blast:WD40 113 153 9e-21 BLAST
WD40 159 195 1.84e1 SMART
low complexity region 226 238 N/A INTRINSIC
Blast:WD40 275 306 8e-8 BLAST
Blast:WD40 330 371 1e-14 BLAST
SOCS_box 374 411 2.31e-1 SMART
SCOP:d1c8za_ 418 505 1e-18 SMART
low complexity region 509 518 N/A INTRINSIC
low complexity region 528 547 N/A INTRINSIC
SCOP:d1c8za_ 594 669 8e-12 SMART
low complexity region 770 789 N/A INTRINSIC
low complexity region 837 864 N/A INTRINSIC
low complexity region 1021 1026 N/A INTRINSIC
low complexity region 1041 1056 N/A INTRINSIC
low complexity region 1174 1181 N/A INTRINSIC
low complexity region 1188 1197 N/A INTRINSIC
Pfam:Tub 1346 1543 2e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141059
Predicted Effect probably benign
Transcript: ENSMUST00000142030
SMART Domains Protein: ENSMUSP00000120358
Gene: ENSMUSG00000034377

DomainStartEndE-ValueType
low complexity region 33 45 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000149756
SMART Domains Protein: ENSMUSP00000123218
Gene: ENSMUSG00000034377

DomainStartEndE-ValueType
low complexity region 33 45 N/A INTRINSIC
Blast:WD40 82 113 6e-8 BLAST
Blast:WD40 137 178 1e-14 BLAST
SOCS_box 181 218 2.31e-1 SMART
SCOP:d1c8za_ 225 312 2e-18 SMART
low complexity region 316 325 N/A INTRINSIC
low complexity region 335 354 N/A INTRINSIC
SCOP:d1c8za_ 401 476 9e-12 SMART
low complexity region 577 596 N/A INTRINSIC
low complexity region 644 671 N/A INTRINSIC
low complexity region 828 833 N/A INTRINSIC
low complexity region 848 863 N/A INTRINSIC
low complexity region 981 988 N/A INTRINSIC
low complexity region 995 1004 N/A INTRINSIC
coiled coil region 1187 1215 N/A INTRINSIC
Pfam:Tub 1224 1350 5.3e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149838
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152672
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 37,011,727 N3491S probably benign Het
Adgrg6 G A 10: 14,467,375 P276L probably benign Het
Asap1 G A 15: 64,119,954 probably benign Het
Axl T C 7: 25,760,872 T723A probably damaging Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
Capn7 A G 14: 31,363,578 K503E probably benign Het
Cbln4 A G 2: 172,039,050 V108A probably benign Het
Ccdc189 A T 7: 127,585,038 S229T probably damaging Het
Ccdc71 C T 9: 108,464,155 T389M probably damaging Het
Ccdc91 A G 6: 147,606,954 T393A unknown Het
Cdh20 A T 1: 104,953,887 H359L probably benign Het
Coro7 C T 16: 4,634,636 V364M possibly damaging Het
Ctsq A T 13: 61,037,714 N204K probably damaging Het
Dnaja3 C T 16: 4,694,445 R238C probably damaging Het
Dynlt1a C T 17: 6,311,787 V39I possibly damaging Het
Gp1ba A G 11: 70,640,652 probably benign Het
Gtf3c3 T C 1: 54,415,955 Y583C probably damaging Het
Invs T C 4: 48,402,909 F514S probably damaging Het
Kif23 A T 9: 61,926,468 C484S probably benign Het
Masp1 A G 16: 23,476,312 Y400H probably damaging Het
Olfml3 G A 3: 103,736,982 probably null Het
Pard3b T C 1: 62,161,198 S299P probably damaging Het
Pcdhb16 A T 18: 37,478,570 E194D possibly damaging Het
Pip5k1c A T 10: 81,305,711 T78S probably benign Het
Sept11 T C 5: 93,157,018 probably null Het
Sept8 A G 11: 53,531,996 N11D probably benign Het
Slc10a6 G A 5: 103,612,496 T211I probably benign Het
Smim8 T C 4: 34,769,006 T93A probably benign Het
Tg A G 15: 66,773,424 I774M probably benign Het
Virma T C 4: 11,519,424 probably benign Het
Wdr62 T C 7: 30,270,752 D210G probably damaging Het
Zfp984 C T 4: 147,754,886 G503S probably benign Het
Other mutations in Tulp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02503:Tulp4 APN 17 6213391 missense probably damaging 0.99
IGL03012:Tulp4 APN 17 6213379 splice site probably benign
IGL03219:Tulp4 APN 17 6139010 missense probably damaging 1.00
tuba_mirum UTSW 17 6201819 missense probably damaging 1.00
R0066:Tulp4 UTSW 17 6201733 missense probably damaging 0.99
R0066:Tulp4 UTSW 17 6201733 missense probably damaging 0.99
R0711:Tulp4 UTSW 17 6139112 missense possibly damaging 0.94
R1718:Tulp4 UTSW 17 6222440 missense probably benign 0.39
R1736:Tulp4 UTSW 17 6233215 missense possibly damaging 0.66
R1775:Tulp4 UTSW 17 6139046 missense probably damaging 0.96
R1793:Tulp4 UTSW 17 6139112 missense possibly damaging 0.94
R3160:Tulp4 UTSW 17 6198708 start codon destroyed probably null 0.94
R3162:Tulp4 UTSW 17 6198708 start codon destroyed probably null 0.94
R3431:Tulp4 UTSW 17 6206964 missense probably benign 0.03
R4081:Tulp4 UTSW 17 6231780 missense probably damaging 1.00
R4082:Tulp4 UTSW 17 6231780 missense probably damaging 1.00
R4610:Tulp4 UTSW 17 6198833 missense probably damaging 0.96
R4963:Tulp4 UTSW 17 6198813 missense probably damaging 1.00
R4966:Tulp4 UTSW 17 6198813 missense probably damaging 1.00
R5386:Tulp4 UTSW 17 6236293 missense probably damaging 1.00
R6019:Tulp4 UTSW 17 6233215 missense possibly damaging 0.66
R6275:Tulp4 UTSW 17 6198736 missense probably damaging 1.00
R6294:Tulp4 UTSW 17 6201819 missense probably damaging 1.00
R6587:Tulp4 UTSW 17 6231871 missense possibly damaging 0.62
R6680:Tulp4 UTSW 17 6139037 missense probably damaging 1.00
R7030:Tulp4 UTSW 17 6214666 missense probably damaging 1.00
R7068:Tulp4 UTSW 17 6185289 missense probably damaging 1.00
R7109:Tulp4 UTSW 17 6231780 missense probably damaging 1.00
R7110:Tulp4 UTSW 17 6231780 missense probably damaging 1.00
R7229:Tulp4 UTSW 17 6231780 missense probably damaging 1.00
R7230:Tulp4 UTSW 17 6231780 missense probably damaging 1.00
R7231:Tulp4 UTSW 17 6236235 missense probably benign 0.03
R7438:Tulp4 UTSW 17 6198708 missense probably benign 0.42
R7750:Tulp4 UTSW 17 6233124 missense probably damaging 1.00
X0067:Tulp4 UTSW 17 6206923 missense possibly damaging 0.93
Z1177:Tulp4 UTSW 17 6224205 frame shift probably null
Posted On2012-04-20