Incidental Mutation 'IGL01317:Unc119'
ID 73900
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Unc119
Ensembl Gene ENSMUSG00000002058
Gene Name unc-119 lipid binding chaperone
Synonyms MRG4, Rtg4, Rg4, UNC119, HRG4, Unc119h
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01317
Quality Score
Status
Chromosome 11
Chromosomal Location 78234321-78239990 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 78238052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 12 (C12S)
Ref Sequence ENSEMBL: ENSMUSP00000098318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002127] [ENSMUST00000048073] [ENSMUST00000100755] [ENSMUST00000108295]
AlphaFold Q9Z2R6
Predicted Effect probably damaging
Transcript: ENSMUST00000002127
AA Change: C77S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000002127
Gene: ENSMUSG00000002058
AA Change: C77S

DomainStartEndE-ValueType
low complexity region 6 13 N/A INTRINSIC
low complexity region 29 54 N/A INTRINSIC
Pfam:GMP_PDE_delta 78 237 1.6e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000048073
SMART Domains Protein: ENSMUSP00000044871
Gene: ENSMUSG00000041958

DomainStartEndE-ValueType
Pfam:PIG-S 22 547 3.3e-144 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100755
AA Change: C12S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000098318
Gene: ENSMUSG00000002058
AA Change: C12S

DomainStartEndE-ValueType
Pfam:GMP_PDE_delta 13 172 1.6e-82 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108295
AA Change: C77S

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103930
Gene: ENSMUSG00000002058
AA Change: C77S

DomainStartEndE-ValueType
low complexity region 6 13 N/A INTRINSIC
low complexity region 29 54 N/A INTRINSIC
Pfam:GMP_PDE_delta 80 212 1.3e-60 PFAM
Pfam:GMP_PDE_delta 218 258 1.5e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125720
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149161
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154700
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155471
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is multifunctional, affecting trafficking of transducin in rod photoreceptors, interacting with src-type tyrosine kinases through SH2 and SH3 interacting domains, and aiding the uptake of bacteria through endocytosis. In addition, the encoded protein acts as a lipid-binding chaperone to help localize some myristoylated proteins correctly. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit retinal degeneration characterized by thinning of the outer nuclear layer of the retinal that is visible at 6 months and progresses rapidly after 17 to end-stage by 26 months. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A T 8: 25,362,597 (GRCm39) D609E probably damaging Het
Aldh3b1 T C 19: 3,968,104 (GRCm39) I352V probably benign Het
Apeh A T 9: 107,963,406 (GRCm39) S605R probably benign Het
Arhgap32 A G 9: 32,168,260 (GRCm39) K748E probably benign Het
Avpr1a T C 10: 122,285,472 (GRCm39) S255P probably benign Het
Cadps2 T A 6: 23,314,172 (GRCm39) D1124V possibly damaging Het
Cask C T X: 13,388,499 (GRCm39) E83K probably damaging Het
Cep170b A G 12: 112,704,078 (GRCm39) Y670C probably damaging Het
Chd3 A G 11: 69,244,037 (GRCm39) Y1343H probably damaging Het
Cit T A 5: 116,046,775 (GRCm39) V396D probably benign Het
Cldn18 T C 9: 99,578,135 (GRCm39) T203A probably benign Het
Dido1 A C 2: 180,313,550 (GRCm39) N907K probably benign Het
Dmbt1 T A 7: 130,642,921 (GRCm39) D246E probably damaging Het
Dph1 T C 11: 75,071,486 (GRCm39) H303R probably benign Het
Dspp T A 5: 104,321,914 (GRCm39) Y8N probably damaging Het
Efhc2 C T X: 17,071,198 (GRCm39) probably benign Het
Fam171a1 T A 2: 3,203,663 (GRCm39) V215E probably damaging Het
Fhip1a T C 3: 85,580,153 (GRCm39) D684G probably benign Het
Foxm1 T A 6: 128,344,316 (GRCm39) M22K probably damaging Het
Gdpd4 A C 7: 97,647,465 (GRCm39) M371L possibly damaging Het
Hdac9 T C 12: 34,479,488 (GRCm39) probably benign Het
Heatr1 T A 13: 12,413,908 (GRCm39) W162R probably damaging Het
Hydin A T 8: 111,053,078 (GRCm39) D250V probably damaging Het
Itga4 T A 2: 79,153,005 (GRCm39) C897* probably null Het
Itprid1 G T 6: 55,944,790 (GRCm39) A504S possibly damaging Het
Kcnd2 T C 6: 21,727,339 (GRCm39) *631Q probably null Het
Kcnn2 A G 18: 45,693,694 (GRCm39) probably null Het
Lama1 A T 17: 68,125,696 (GRCm39) E2951V probably damaging Het
Lyst A G 13: 13,845,455 (GRCm39) Q1944R probably benign Het
Mmp14 A G 14: 54,673,247 (GRCm39) T52A possibly damaging Het
Mrgpra1 A T 7: 46,985,372 (GRCm39) N102K probably benign Het
Mrpl28 G A 17: 26,344,489 (GRCm39) G205D probably damaging Het
Mtmr4 T C 11: 87,493,230 (GRCm39) probably benign Het
Oog2 A G 4: 143,921,837 (GRCm39) N249S probably benign Het
Or4f57 T A 2: 111,790,620 (GRCm39) H266L possibly damaging Het
Ppp6r2 T A 15: 89,170,131 (GRCm39) V882E possibly damaging Het
Qser1 A C 2: 104,617,324 (GRCm39) Y1073D probably damaging Het
Rbl2 C A 8: 91,826,685 (GRCm39) D480E probably damaging Het
Rfx7 G A 9: 72,525,818 (GRCm39) G1003S probably damaging Het
Rrh A C 3: 129,616,074 (GRCm39) F20V possibly damaging Het
Rwdd3 A G 3: 120,965,282 (GRCm39) I15T possibly damaging Het
Sestd1 A T 2: 77,022,889 (GRCm39) M493K possibly damaging Het
Slc17a8 T A 10: 89,456,666 (GRCm39) L32F probably benign Het
Slc29a4 A G 5: 142,691,285 (GRCm39) D55G probably benign Het
Tbc1d10a A T 11: 4,162,826 (GRCm39) Y223F probably benign Het
Tbx20 A G 9: 24,681,051 (GRCm39) V147A probably damaging Het
Tmem63c A T 12: 87,118,770 (GRCm39) probably benign Het
Tmtc2 C A 10: 105,249,646 (GRCm39) R29L probably damaging Het
Ttc21b T A 2: 66,018,700 (GRCm39) M1236L probably benign Het
Vcan A G 13: 89,839,787 (GRCm39) M1919T probably benign Het
Zmat4 C A 8: 24,392,185 (GRCm39) T47K probably benign Het
Other mutations in Unc119
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01155:Unc119 APN 11 78,239,435 (GRCm39) missense probably damaging 1.00
IGL03164:Unc119 APN 11 78,239,002 (GRCm39) missense probably damaging 1.00
R2166:Unc119 UTSW 11 78,238,161 (GRCm39) splice site probably null
R4298:Unc119 UTSW 11 78,238,948 (GRCm39) missense probably damaging 0.98
R5584:Unc119 UTSW 11 78,239,396 (GRCm39) missense probably damaging 1.00
R6594:Unc119 UTSW 11 78,238,046 (GRCm39) missense probably damaging 1.00
R7001:Unc119 UTSW 11 78,239,380 (GRCm39) missense probably damaging 0.99
R7322:Unc119 UTSW 11 78,239,449 (GRCm39) missense probably damaging 1.00
R7401:Unc119 UTSW 11 78,238,071 (GRCm39) missense probably benign 0.00
R7675:Unc119 UTSW 11 78,234,423 (GRCm39) missense probably damaging 1.00
R8700:Unc119 UTSW 11 78,238,137 (GRCm39) missense probably benign 0.22
Posted On 2013-10-07