Incidental Mutation 'IGL01952:Tulp1'
ID 279197
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 # IGL01952
Quality Score
Status
Chromosome 17
Chromosomal Location 28570489-28584190 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 28575398 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9Z273
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
SMART Domains Protein: ENSMUSP00000116844
Gene: ENSMUSG00000037446
AA Change: T57M

DomainStartEndE-ValueType
Pfam:Tub 5 214 8.8e-76 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140250
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142143
Meta Mutation Damage Score 0.8814 question?
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Astl T C 2: 127,184,398 (GRCm39) probably null Het
Bod1l C T 5: 41,974,297 (GRCm39) C2339Y possibly damaging Het
Celsr1 T A 15: 85,847,424 (GRCm39) I1438F probably benign Het
Dbr1 T A 9: 99,464,465 (GRCm39) N297K possibly damaging Het
Dmxl1 A G 18: 50,023,721 (GRCm39) H1668R probably benign Het
Dnai3 T C 3: 145,802,918 (GRCm39) H91R probably damaging Het
Dnajb11 A G 16: 22,684,250 (GRCm39) E91G probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Grin2d C A 7: 45,511,704 (GRCm39) R247L probably benign Het
Gzf1 G A 2: 148,525,981 (GRCm39) A151T probably benign Het
Hacl1 C T 14: 31,363,079 (GRCm39) probably benign Het
Hivep2 C A 10: 14,018,075 (GRCm39) T1854K possibly damaging Het
Htr1d T C 4: 136,170,872 (GRCm39) V367A probably benign Het
Ifi208 T C 1: 173,506,597 (GRCm39) S127P possibly damaging Het
Ifngr2 C T 16: 91,356,876 (GRCm39) P137S probably damaging Het
Lcn9 T C 2: 25,714,550 (GRCm39) L138P probably damaging Het
Mdn1 T C 4: 32,723,657 (GRCm39) V2531A possibly damaging Het
Meioc A T 11: 102,563,011 (GRCm39) I70F possibly damaging Het
Mideas G A 12: 84,220,040 (GRCm39) P305S probably benign Het
Mlph A C 1: 90,861,193 (GRCm39) D276A probably benign Het
Myh1 T A 11: 67,111,218 (GRCm39) probably null Het
Nlrp9a G A 7: 26,257,444 (GRCm39) S265N probably benign Het
Ofcc1 G A 13: 40,434,337 (GRCm39) A22V probably damaging Het
Or11j4 T A 14: 50,630,860 (GRCm39) F216I probably benign Het
Pisd C A 5: 32,896,476 (GRCm39) probably null Het
Prlr A G 15: 10,328,428 (GRCm39) D301G possibly damaging Het
Ptk2 T C 15: 73,101,780 (GRCm39) E810G probably damaging Het
Slco1b2 T G 6: 141,616,956 (GRCm39) F430V probably benign Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Supt6 T C 11: 78,116,586 (GRCm39) K646R probably benign Het
Tmem260 C T 14: 48,709,933 (GRCm39) A52V probably damaging Het
Tmpo G A 10: 90,999,104 (GRCm39) R228C probably benign Het
Vwa5b1 G A 4: 138,308,528 (GRCm39) P770S probably benign Het
Zfp639 A G 3: 32,569,496 (GRCm39) Y18C probably damaging Het
Other mutations in Tulp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02973:Tulp1 APN 17 28,577,516 (GRCm39) splice site probably benign
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 2015-04-16