Incidental Mutation 'IGL02973:Tulp1'
ID 365911
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tulp1
Ensembl Gene ENSMUSG00000037446
Gene Name tubby like protein 1
Synonyms Tulp1l
Accession Numbers
Essential gene? Possibly essential (E-score: 0.563) question?
Stock # IGL02973
Quality Score
Status
Chromosome 17
Chromosomal Location 28570489-28584190 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 28577516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000041819] [ENSMUST00000114794] [ENSMUST00000123797] [ENSMUST00000129375]
AlphaFold Q9Z273
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: ENSMUST00000140250
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: ENSMUST00000131604
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142143
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: 163,573,053 (GRCm39) L193P probably benign Het
Ago2 A T 15: 72,995,314 (GRCm39) probably benign Het
Ankrd26 A G 6: 118,500,511 (GRCm39) S987P probably damaging Het
Ap2a2 T C 7: 141,211,277 (GRCm39) F938L possibly damaging Het
Arhgap35 A G 7: 16,296,803 (GRCm39) V754A possibly damaging Het
Atp10b A T 11: 43,088,336 (GRCm39) N314I probably damaging Het
Atp5f1a T C 18: 77,867,849 (GRCm39) V291A probably damaging Het
Ccm2 C A 11: 6,534,544 (GRCm39) P19T probably damaging Het
Cdc5l C A 17: 45,715,573 (GRCm39) A680S probably benign Het
Cds1 A G 5: 101,960,376 (GRCm39) T276A probably damaging Het
Cit A G 5: 116,144,058 (GRCm39) R1976G possibly damaging Het
Col6a5 T C 9: 105,803,020 (GRCm39) D1315G unknown Het
Emilin1 T G 5: 31,078,007 (GRCm39) L922R probably damaging Het
Fank1 T C 7: 133,478,578 (GRCm39) L213P probably damaging Het
Foxc2 T C 8: 121,844,788 (GRCm39) S479P probably benign Het
Golgb1 G A 16: 36,732,442 (GRCm39) R563H possibly damaging Het
Hoxb13 A G 11: 96,085,669 (GRCm39) Y134C probably damaging Het
Krtap4-16 A T 11: 99,742,167 (GRCm39) C78S possibly damaging Het
Lars1 C T 18: 42,347,824 (GRCm39) probably null Het
Lipe T C 7: 25,083,057 (GRCm39) N740S probably damaging Het
Mbd1 C T 18: 74,408,498 (GRCm39) probably benign Het
Mbd5 A G 2: 49,203,721 (GRCm39) D1700G probably damaging Het
Mpp7 A G 18: 7,403,297 (GRCm39) Y338H probably damaging Het
Pdgfrl A G 8: 41,438,631 (GRCm39) D189G probably damaging Het
Pira12 T C 7: 3,900,239 (GRCm39) Y121C probably damaging Het
Plxnc1 T C 10: 94,646,546 (GRCm39) N1293S probably damaging Het
Ppm1e C A 11: 87,131,488 (GRCm39) A302S probably damaging Het
Rassf8 A G 6: 145,762,916 (GRCm39) probably benign Het
Rttn T C 18: 88,990,618 (GRCm39) W52R probably damaging Het
Skint8 T C 4: 111,796,790 (GRCm39) V298A probably benign Het
Unc5c T A 3: 141,494,651 (GRCm39) D321E probably benign Het
Usp16 G A 16: 87,276,627 (GRCm39) C654Y probably damaging Het
Vwce G A 19: 10,632,764 (GRCm39) W575* probably null Het
Wdr89 T G 12: 75,679,873 (GRCm39) D127A probably damaging Het
Zc3h6 G A 2: 128,839,715 (GRCm39) R176Q probably damaging Het
Zfp942 A G 17: 22,151,972 (GRCm39) probably null Het
Other mutations in Tulp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01952:Tulp1 APN 17 28,575,398 (GRCm39) missense probably damaging 1.00
IGL01955:Tulp1 APN 17 28,575,398 (GRCm39) missense probably damaging 1.00
IGL02388:Tulp1 APN 17 28,577,633 (GRCm39) missense probably damaging 1.00
IGL02511:Tulp1 APN 17 28,575,142 (GRCm39) missense probably benign 0.15
IGL03054:Tulp1 APN 17 28,578,287 (GRCm39) unclassified probably benign
IGL03248:Tulp1 APN 17 28,578,298 (GRCm39) missense possibly damaging 0.87
BB006:Tulp1 UTSW 17 28,572,746 (GRCm39) missense possibly damaging 0.87
BB016:Tulp1 UTSW 17 28,572,746 (GRCm39) missense possibly damaging 0.87
R1017:Tulp1 UTSW 17 28,583,277 (GRCm39) missense probably damaging 1.00
R1543:Tulp1 UTSW 17 28,581,645 (GRCm39) unclassified probably benign
R1593:Tulp1 UTSW 17 28,581,675 (GRCm39) missense probably damaging 0.97
R1826:Tulp1 UTSW 17 28,575,341 (GRCm39) missense possibly damaging 0.89
R2323:Tulp1 UTSW 17 28,581,456 (GRCm39) missense probably damaging 1.00
R3840:Tulp1 UTSW 17 28,572,689 (GRCm39) missense probably damaging 1.00
R3841:Tulp1 UTSW 17 28,572,689 (GRCm39) missense probably damaging 1.00
R3930:Tulp1 UTSW 17 28,572,683 (GRCm39) missense probably damaging 1.00
R4690:Tulp1 UTSW 17 28,570,811 (GRCm39) unclassified probably benign
R4823:Tulp1 UTSW 17 28,572,546 (GRCm39) missense probably benign 0.01
R4916:Tulp1 UTSW 17 28,578,109 (GRCm39) missense probably damaging 1.00
R5024:Tulp1 UTSW 17 28,570,969 (GRCm39) nonsense probably null
R5159:Tulp1 UTSW 17 28,578,034 (GRCm39) critical splice donor site probably null
R5249:Tulp1 UTSW 17 28,581,651 (GRCm39) unclassified probably benign
R5567:Tulp1 UTSW 17 28,578,172 (GRCm39) missense possibly damaging 0.47
R6072:Tulp1 UTSW 17 28,582,758 (GRCm39) missense possibly damaging 0.71
R6127:Tulp1 UTSW 17 28,575,124 (GRCm39) missense probably benign
R6207:Tulp1 UTSW 17 28,577,651 (GRCm39) unclassified probably benign
R6416:Tulp1 UTSW 17 28,575,005 (GRCm39) makesense probably null
R6773:Tulp1 UTSW 17 28,581,876 (GRCm39) missense probably damaging 1.00
R7242:Tulp1 UTSW 17 28,582,379 (GRCm39) splice site probably null
R7323:Tulp1 UTSW 17 28,575,398 (GRCm39) missense probably damaging 1.00
R7542:Tulp1 UTSW 17 28,582,729 (GRCm39) missense probably benign 0.26
R7929:Tulp1 UTSW 17 28,572,746 (GRCm39) missense possibly damaging 0.87
R8195:Tulp1 UTSW 17 28,583,300 (GRCm39) missense probably benign 0.00
R8546:Tulp1 UTSW 17 28,582,710 (GRCm39) missense probably benign 0.03
R8930:Tulp1 UTSW 17 28,583,468 (GRCm39) missense probably benign 0.37
R8932:Tulp1 UTSW 17 28,583,468 (GRCm39) missense probably benign 0.37
R9292:Tulp1 UTSW 17 28,582,738 (GRCm39) nonsense probably null
R9593:Tulp1 UTSW 17 28,572,802 (GRCm39) nonsense probably null
X0024:Tulp1 UTSW 17 28,572,671 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18