Incidental Mutation 'IGL02973:Tulp1'
ID365911
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tulp1
Ensembl Gene ENSMUSG00000037446
Gene Nametubby like protein 1
SynonymsTulp1l
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.502) question?
Stock #IGL02973
Quality Score
Status
Chromosome17
Chromosomal Location28351515-28365182 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 28358542 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000041819] [ENSMUST00000114794] [ENSMUST00000123797] [ENSMUST00000129375]
Predicted Effect probably benign
Transcript: ENSMUST00000041819
SMART Domains Protein: ENSMUSP00000049070
Gene: ENSMUSG00000037446

DomainStartEndE-ValueType
internal_repeat_1 17 65 8.47e-7 PROSPERO
low complexity region 111 142 N/A INTRINSIC
low complexity region 144 158 N/A INTRINSIC
internal_repeat_1 160 212 8.47e-7 PROSPERO
coiled coil region 242 266 N/A INTRINSIC
Pfam:Tub 299 537 1.8e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114794
SMART Domains Protein: ENSMUSP00000110442
Gene: ENSMUSG00000037446

DomainStartEndE-ValueType
internal_repeat_1 17 65 8.5e-7 PROSPERO
low complexity region 111 142 N/A INTRINSIC
low complexity region 144 158 N/A INTRINSIC
internal_repeat_1 160 212 8.5e-7 PROSPERO
coiled coil region 242 266 N/A INTRINSIC
Pfam:Tub 299 449 3.4e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123797
SMART Domains Protein: ENSMUSP00000116588
Gene: ENSMUSG00000037446

DomainStartEndE-ValueType
Pfam:Tub 21 228 2.1e-88 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125876
Predicted Effect probably benign
Transcript: ENSMUST00000129375
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130877
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131604
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140250
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142143
Predicted Effect probably benign
Transcript: ENSMUST00000148188
SMART Domains Protein: ENSMUSP00000116844
Gene: ENSMUSG00000037446

DomainStartEndE-ValueType
Pfam:Tub 5 214 8.8e-76 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150341
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tubby-like gene family (TULPs). Members of this family have been identified in plants, vertebrates, and invertebrates. TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. The protein encoded by this gene is thought to play a role in the physiology of photoreceptors. Mutations in this gene are associated with recessive juvenile retinitis pigmentosa and Leber congenital amaurosis-15. [provided by RefSeq, Nov 2016]
PHENOTYPE: Homozygous mutant mice exhibit retinal degeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ada A G 2: 163,731,133 L193P probably benign Het
Ago2 A T 15: 73,123,465 probably benign Het
Ankrd26 A G 6: 118,523,550 S987P probably damaging Het
Ap2a2 T C 7: 141,631,364 F938L possibly damaging Het
Arhgap35 A G 7: 16,562,878 V754A possibly damaging Het
Atp10b A T 11: 43,197,509 N314I probably damaging Het
Atp5a1 T C 18: 77,780,149 V291A probably damaging Het
Ccm2 C A 11: 6,584,544 P19T probably damaging Het
Cdc5l C A 17: 45,404,647 A680S probably benign Het
Cds1 A G 5: 101,812,510 T276A probably damaging Het
Cit A G 5: 116,005,999 R1976G possibly damaging Het
Col6a5 T C 9: 105,925,821 D1315G unknown Het
Emilin1 T G 5: 30,920,663 L922R probably damaging Het
Fank1 T C 7: 133,876,849 L213P probably damaging Het
Foxc2 T C 8: 121,118,049 S479P probably benign Het
Gm14548 T C 7: 3,897,240 Y121C probably damaging Het
Golgb1 G A 16: 36,912,080 R563H possibly damaging Het
Hoxb13 A G 11: 96,194,843 Y134C probably damaging Het
Krtap4-16 A T 11: 99,851,341 C78S possibly damaging Het
Lars C T 18: 42,214,759 probably null Het
Lipe T C 7: 25,383,632 N740S probably damaging Het
Mbd1 C T 18: 74,275,427 probably benign Het
Mbd5 A G 2: 49,313,709 D1700G probably damaging Het
Mpp7 A G 18: 7,403,297 Y338H probably damaging Het
Pdgfrl A G 8: 40,985,594 D189G probably damaging Het
Plxnc1 T C 10: 94,810,684 N1293S probably damaging Het
Ppm1e C A 11: 87,240,662 A302S probably damaging Het
Rassf8 A G 6: 145,817,190 probably benign Het
Rttn T C 18: 88,972,494 W52R probably damaging Het
Skint8 T C 4: 111,939,593 V298A probably benign Het
Unc5c T A 3: 141,788,890 D321E probably benign Het
Usp16 G A 16: 87,479,739 C654Y probably damaging Het
Vwce G A 19: 10,655,400 W575* probably null Het
Wdr89 T G 12: 75,633,099 D127A probably damaging Het
Zc3h6 G A 2: 128,997,795 R176Q probably damaging Het
Zfp942 A G 17: 21,932,991 probably null Het
Other mutations in Tulp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01952:Tulp1 APN 17 28356424 missense probably damaging 1.00
IGL01955:Tulp1 APN 17 28356424 missense probably damaging 1.00
IGL02388:Tulp1 APN 17 28358659 missense probably damaging 1.00
IGL02511:Tulp1 APN 17 28356168 missense probably benign 0.15
IGL03054:Tulp1 APN 17 28359313 unclassified probably benign
IGL03248:Tulp1 APN 17 28359324 missense possibly damaging 0.87
R1017:Tulp1 UTSW 17 28364303 missense probably damaging 1.00
R1543:Tulp1 UTSW 17 28362671 unclassified probably benign
R1593:Tulp1 UTSW 17 28362701 missense probably damaging 0.97
R1826:Tulp1 UTSW 17 28356367 missense possibly damaging 0.89
R2323:Tulp1 UTSW 17 28362482 missense probably damaging 1.00
R3840:Tulp1 UTSW 17 28353715 missense probably damaging 1.00
R3841:Tulp1 UTSW 17 28353715 missense probably damaging 1.00
R3930:Tulp1 UTSW 17 28353709 missense probably damaging 1.00
R4690:Tulp1 UTSW 17 28351837 unclassified probably benign
R4823:Tulp1 UTSW 17 28353572 missense probably benign 0.01
R4916:Tulp1 UTSW 17 28359135 missense probably damaging 1.00
R5024:Tulp1 UTSW 17 28351995 nonsense probably null
R5159:Tulp1 UTSW 17 28359060 critical splice donor site probably null
R5249:Tulp1 UTSW 17 28362677 unclassified probably benign
R5567:Tulp1 UTSW 17 28359198 missense possibly damaging 0.47
R6072:Tulp1 UTSW 17 28363784 missense possibly damaging 0.71
R6127:Tulp1 UTSW 17 28356150 missense probably benign
R6207:Tulp1 UTSW 17 28358677 unclassified probably benign
R6416:Tulp1 UTSW 17 28356031 makesense probably null
R6773:Tulp1 UTSW 17 28362902 missense probably damaging 1.00
R7242:Tulp1 UTSW 17 28363405 intron probably null
R7323:Tulp1 UTSW 17 28356424 missense probably damaging 1.00
R7542:Tulp1 UTSW 17 28363755 missense probably benign 0.26
X0024:Tulp1 UTSW 17 28353697 missense probably damaging 1.00
Posted On2015-12-18