Incidental Mutation 'IGL03012:Tulp4'
ID407825
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: 0.460) question?
Stock #IGL03012
Quality Score
Status
Chromosome17
Chromosomal Location6106437-6251128 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to T at 6213379 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123218 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039655] [ENSMUST00000149756]
Predicted Effect probably benign
Transcript: ENSMUST00000039655
SMART Domains Protein: ENSMUSP00000049248
Gene: ENSMUSG00000034377

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: 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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b A C 9: 119,156,946 S17A probably benign Het
Acp1 T G 12: 30,895,949 N135T probably benign Het
Adamts2 A G 11: 50,776,269 probably benign Het
Arfgef2 C T 2: 166,868,888 probably benign Het
Atp10b T A 11: 43,194,655 I287N probably damaging Het
Camta1 T A 4: 151,453,299 K141N probably damaging Het
Carmil1 T C 13: 24,036,372 D719G probably benign Het
Cntnap5c T A 17: 58,359,234 H1086Q probably benign Het
Dsg3 A G 18: 20,537,243 probably null Het
Emilin3 G A 2: 160,908,729 Q320* probably null Het
G6pd2 A G 5: 61,809,473 Y197C probably damaging Het
Il13ra1 G T X: 36,130,594 probably benign Het
Ivl G A 3: 92,572,426 P111S probably benign Het
Kmt2a T C 9: 44,810,966 probably benign Het
Lztr1 T C 16: 17,521,484 S57P possibly damaging Het
Mtss1 T G 15: 59,058,400 D32A probably damaging Het
Mylk G A 16: 34,952,781 D1250N probably benign Het
Ncln A G 10: 81,489,965 F349L probably benign Het
Pgap1 A G 1: 54,533,413 probably benign Het
Rarres2 T C 6: 48,570,305 D107G probably benign Het
Ric3 T C 7: 109,038,718 D276G probably benign Het
Trim54 A G 5: 31,137,145 D339G probably benign Het
Trip11 G A 12: 101,883,936 H1005Y probably damaging Het
Unc93a C T 17: 13,109,608 E453K probably benign Het
Vmn1r181 A T 7: 23,984,602 D164V probably damaging Het
Vmn1r78 T A 7: 12,153,364 S301T probably benign Het
Vmn1r85 T C 7: 13,084,765 N151D probably benign Het
Wnk2 T C 13: 49,044,389 K2008E probably damaging Het
Wrap73 A G 4: 154,145,234 probably benign Het
Zfp408 G A 2: 91,647,808 A41V probably benign Het
Zfp472 A G 17: 32,977,571 S207G probably benign Het
Other mutations in Tulp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00428:Tulp4 APN 17 6139076 missense probably damaging 0.97
IGL02503:Tulp4 APN 17 6213391 missense probably damaging 0.99
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
X0067:Tulp4 UTSW 17 6206923 missense possibly damaging 0.93
Posted On2016-08-02