Incidental Mutation 'IGL01955:Tulp1'
ID279240
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 #IGL01955
Quality Score
Status
Chromosome17
Chromosomal Location28351515-28365182 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 28356424 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 103 (T103M)
Ref Sequence ENSEMBL: ENSMUSP00000116588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041819] [ENSMUST00000114794] [ENSMUST00000123797] [ENSMUST00000129375]
Predicted Effect probably damaging
Transcript: ENSMUST00000041819
AA Change: T381M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049070
Gene: ENSMUSG00000037446
AA Change: T381M

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 damaging
Transcript: ENSMUST00000114794
AA Change: T381M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110442
Gene: ENSMUSG00000037446
AA Change: T381M

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 damaging
Transcript: ENSMUST00000123797
AA Change: T103M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116588
Gene: ENSMUSG00000037446
AA Change: T103M

DomainStartEndE-ValueType
Pfam:Tub 21 228 2.1e-88 PFAM
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
SMART Domains Protein: ENSMUSP00000116844
Gene: ENSMUSG00000037446
AA Change: T57M

DomainStartEndE-ValueType
Pfam:Tub 5 214 8.8e-76 PFAM
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik G T 7: 29,573,995 noncoding transcript Het
Abcc1 T A 16: 14,410,795 I302N probably damaging Het
Abhd16a A G 17: 35,101,340 S394G probably damaging Het
Adgrv1 T C 13: 81,182,783 Y71C probably damaging Het
Apol8 A G 15: 77,749,699 C226R probably benign Het
Armc4 C T 18: 7,127,291 R974Q possibly damaging Het
Bbs7 A G 3: 36,610,322 S45P probably benign Het
Cacna1b T C 2: 24,639,137 Y1575C probably damaging Het
Cckbr T A 7: 105,434,962 V301E probably damaging Het
Cwc27 A G 13: 104,807,737 Y79H probably damaging Het
Dchs1 T C 7: 105,757,591 T2236A probably benign Het
Ddx50 T C 10: 62,647,183 R36G probably benign Het
Extl3 T A 14: 65,075,966 Y589F probably benign Het
Gab2 T C 7: 97,304,223 V601A probably damaging Het
Hsd3b1 T A 3: 98,853,147 N176I probably benign Het
L3mbtl3 A T 10: 26,318,438 S420R unknown Het
Olfr1000 A G 2: 85,608,707 F68L probably benign Het
Olfr319 T C 11: 58,702,129 S143P probably damaging Het
Olfr589 T A 7: 103,154,854 K298* probably null Het
Polr2a T C 11: 69,741,848 D974G probably damaging Het
Ptges3l T C 11: 101,423,818 K13E possibly damaging Het
Ptprk A G 10: 28,595,865 probably benign Het
Rassf3 T C 10: 121,417,122 Y60C probably damaging Het
Rnf157 T C 11: 116,359,896 T160A probably damaging Het
Secisbp2l A G 2: 125,743,812 probably null Het
Setd2 A G 9: 110,549,318 T734A probably benign Het
Skint5 A G 4: 113,623,736 probably null Het
Slc38a9 A G 13: 112,695,418 probably benign Het
Snx17 T G 5: 31,197,082 probably benign Het
Tas2r113 A T 6: 132,893,854 M282L probably benign Het
Tbc1d31 A G 15: 57,942,370 N404D probably benign Het
Tmem63c A T 12: 87,077,208 I487F probably benign Het
Tpm3 A G 3: 90,088,435 M164V probably benign Het
Trafd1 G T 5: 121,375,154 N340K probably benign Het
Trpv4 T A 5: 114,622,682 K863* probably null Het
Ttn A T 2: 76,797,352 M13003K possibly damaging Het
Unc5b T C 10: 60,778,255 T272A probably benign Het
Vmn1r82 A C 7: 12,305,723 probably null Het
Zc3h7b A G 15: 81,792,004 N704D probably benign Het
Other mutations in Tulp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01952: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
IGL02973:Tulp1 APN 17 28358542 splice site probably benign
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 On2015-04-16