Incidental Mutation 'IGL01633:Tulp3'
ID 93626
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tulp3
Ensembl Gene ENSMUSG00000001521
Gene Name tubby-like protein 3
Synonyms 2310022L06Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01633
Quality Score
Status
Chromosome 6
Chromosomal Location 128298124-128332814 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 128302923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 299 (Y299N)
Ref Sequence ENSEMBL: ENSMUSP00000001562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001562]
AlphaFold O88413
Predicted Effect probably damaging
Transcript: ENSMUST00000001562
AA Change: Y299N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001562
Gene: ENSMUSG00000001521
AA Change: Y299N

DomainStartEndE-ValueType
Pfam:Tub_N 30 84 1.7e-23 PFAM
Pfam:Tub_N 76 198 5.5e-16 PFAM
Pfam:Tub 213 454 1e-87 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128708
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 gene family of bipartite transcription factors. Members of this family have been identified in plants, vertebrates, and invertebrates, and they share a conserved N-terminal transcription activation region and a conserved C-terminal DNA and phosphatidylinositol-phosphate binding region. The encoded protein binds to phosphoinositides in the plasma membrane via its C-terminal region and probably functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis, for instance, induced by G-protein-coupled-receptor signaling. It plays an important role in neuronal development and function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Homozygous mutant mice exhibit failed neural tube closure followed by neuroepithelial apoptosis and ultimately embryonic death around E14.5. Heterozygotes are largely phenotypically normal, however some exhibit neuroepithelial apoptosis and die as embryos. [provided by MGI curators]
Allele List at MGI

All alleles(35) : Targeted, other(3) Gene trapped(31) Chemically induced(1)
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T A 2: 25,334,406 (GRCm39) S1868T possibly damaging Het
Abca3 G A 17: 24,616,327 (GRCm39) W923* probably null Het
Abca8b A G 11: 109,827,580 (GRCm39) M1476T probably damaging Het
Abi3bp T C 16: 56,498,163 (GRCm39) F729S probably damaging Het
Acacb T C 5: 114,356,919 (GRCm39) probably benign Het
Aldh3a2 A G 11: 61,139,731 (GRCm39) L467P probably benign Het
Appl1 T C 14: 26,684,795 (GRCm39) T85A probably damaging Het
Aspm T A 1: 139,408,574 (GRCm39) I2487N possibly damaging Het
Bcl2a1c G A 9: 114,159,290 (GRCm39) V23I probably benign Het
C2cd2 T A 16: 97,676,323 (GRCm39) probably benign Het
Carmil3 A T 14: 55,731,684 (GRCm39) H170L possibly damaging Het
Ccdc141 C T 2: 76,919,593 (GRCm39) V305I probably benign Het
Ccdc174 G A 6: 91,857,343 (GRCm39) probably null Het
Cep126 T G 9: 8,103,320 (GRCm39) Q230P possibly damaging Het
Chrm1 T C 19: 8,655,859 (GRCm39) I188T probably benign Het
Depdc5 T C 5: 33,081,544 (GRCm39) S569P probably damaging Het
Drc1 G A 5: 30,503,007 (GRCm39) E177K probably damaging Het
Duox1 A G 2: 122,164,279 (GRCm39) E913G probably benign Het
Fbxw9 T C 8: 85,791,055 (GRCm39) S241P probably damaging Het
Fez2 C A 17: 78,712,147 (GRCm39) probably benign Het
Fga G T 3: 82,937,606 (GRCm39) R161L possibly damaging Het
Fn3krp G T 11: 121,320,533 (GRCm39) G293* probably null Het
Gfra1 C T 19: 58,255,479 (GRCm39) E318K probably benign Het
Gli3 C T 13: 15,823,219 (GRCm39) P314S probably damaging Het
Gm5114 A T 7: 39,057,490 (GRCm39) S710T probably benign Het
Gpr141 T C 13: 19,936,769 (GRCm39) D2G probably benign Het
Inppl1 G A 7: 101,483,041 (GRCm39) Q63* probably null Het
Lrrc73 T A 17: 46,566,657 (GRCm39) V169E possibly damaging Het
Lsm11 C T 11: 45,824,615 (GRCm39) R304Q probably benign Het
Macf1 T C 4: 123,395,964 (GRCm39) D788G probably damaging Het
Nbas T A 12: 13,533,898 (GRCm39) D1844E probably damaging Het
Nt5c A G 11: 115,382,161 (GRCm39) F73L probably damaging Het
Osmr A T 15: 6,854,085 (GRCm39) I541N probably damaging Het
Phrf1 A G 7: 140,840,413 (GRCm39) I1203V probably benign Het
Pram1 C A 17: 33,861,109 (GRCm39) P510Q possibly damaging Het
Prepl A G 17: 85,379,444 (GRCm39) Y415H probably benign Het
Prss27 A T 17: 24,264,650 (GRCm39) H271L probably damaging Het
Ptpn18 A G 1: 34,510,989 (GRCm39) S287G probably benign Het
Ptprq T C 10: 107,535,584 (GRCm39) probably benign Het
Sars2 A G 7: 28,446,974 (GRCm39) K218E probably benign Het
Senp6 G T 9: 79,999,676 (GRCm39) S31I probably damaging Het
Shld2 G T 14: 33,971,136 (GRCm39) T31K probably damaging Het
Skint6 C A 4: 113,095,246 (GRCm39) V138F probably damaging Het
Slc4a8 C A 15: 100,685,128 (GRCm39) H168N probably damaging Het
Tbx15 T G 3: 99,220,358 (GRCm39) I150S probably damaging Het
Tbxas1 A G 6: 38,959,125 (GRCm39) N103D probably benign Het
Tmc5 A G 7: 118,222,809 (GRCm39) N170D probably damaging Het
Tmem108 A T 9: 103,361,950 (GRCm39) N545K probably benign Het
Trub1 A G 19: 57,441,616 (GRCm39) K80E possibly damaging Het
Other mutations in Tulp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01025:Tulp3 APN 6 128,302,847 (GRCm39) missense probably damaging 0.99
IGL01327:Tulp3 APN 6 128,304,597 (GRCm39) missense probably damaging 1.00
IGL01382:Tulp3 APN 6 128,302,033 (GRCm39) missense probably damaging 1.00
IGL02228:Tulp3 APN 6 128,311,448 (GRCm39) missense probably damaging 1.00
IGL02372:Tulp3 APN 6 128,304,561 (GRCm39) missense possibly damaging 0.92
D4043:Tulp3 UTSW 6 128,301,113 (GRCm39) missense probably benign 0.06
R0243:Tulp3 UTSW 6 128,302,921 (GRCm39) nonsense probably null
R1181:Tulp3 UTSW 6 128,302,915 (GRCm39) missense possibly damaging 0.47
R1673:Tulp3 UTSW 6 128,310,906 (GRCm39) splice site probably null
R1749:Tulp3 UTSW 6 128,314,722 (GRCm39) missense probably damaging 1.00
R1984:Tulp3 UTSW 6 128,303,769 (GRCm39) missense probably benign 0.02
R1985:Tulp3 UTSW 6 128,303,769 (GRCm39) missense probably benign 0.02
R2568:Tulp3 UTSW 6 128,304,601 (GRCm39) missense probably benign 0.00
R4660:Tulp3 UTSW 6 128,300,017 (GRCm39) utr 3 prime probably benign
R4779:Tulp3 UTSW 6 128,300,083 (GRCm39) missense probably damaging 1.00
R5001:Tulp3 UTSW 6 128,302,031 (GRCm39) missense probably damaging 1.00
R6192:Tulp3 UTSW 6 128,332,703 (GRCm39) splice site probably null
R6242:Tulp3 UTSW 6 128,300,050 (GRCm39) missense probably damaging 1.00
R7464:Tulp3 UTSW 6 128,303,792 (GRCm39) missense probably benign 0.00
R7782:Tulp3 UTSW 6 128,301,943 (GRCm39) missense possibly damaging 0.69
R7883:Tulp3 UTSW 6 128,303,807 (GRCm39) missense probably damaging 1.00
R8027:Tulp3 UTSW 6 128,311,436 (GRCm39) missense probably benign 0.00
R8235:Tulp3 UTSW 6 128,304,640 (GRCm39) missense probably benign 0.00
R8919:Tulp3 UTSW 6 128,310,966 (GRCm39) missense probably benign 0.12
Posted On 2013-12-09