Incidental Mutation 'IGL02806:Snx10'
ID 360414
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snx10
Ensembl Gene ENSMUSG00000038301
Gene Name sorting nexin 10
Synonyms 2410004M09Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02806
Quality Score
Status
Chromosome 6
Chromosomal Location 51500882-51567659 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 51565329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 149 (F149I)
Ref Sequence ENSEMBL: ENSMUSP00000136974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049152] [ENSMUST00000114439] [ENSMUST00000137212] [ENSMUST00000149024] [ENSMUST00000179365]
AlphaFold Q9CWT3
Predicted Effect probably damaging
Transcript: ENSMUST00000049152
AA Change: F149I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044165
Gene: ENSMUSG00000038301
AA Change: F149I

DomainStartEndE-ValueType
PX 8 124 7.99e-16 SMART
low complexity region 172 191 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114439
AA Change: F149I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110082
Gene: ENSMUSG00000038301
AA Change: F149I

DomainStartEndE-ValueType
PX 8 124 7.99e-16 SMART
low complexity region 172 191 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000137212
AA Change: F149I

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117914
Gene: ENSMUSG00000038301
AA Change: F149I

DomainStartEndE-ValueType
PX 8 124 7.99e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000149024
Predicted Effect probably damaging
Transcript: ENSMUST00000179365
AA Change: F149I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136974
Gene: ENSMUSG00000038301
AA Change: F149I

DomainStartEndE-ValueType
PX 8 124 7.99e-16 SMART
low complexity region 172 191 N/A INTRINSIC
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 sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene may play a role in regulating endosome homeostasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a hypomorphic allele show postnatal growth retardation, failure of tooth eruption, impaired skeleton development, and osteopetrorickets associated with failed osteoclast activity, high stomach pH, low calcium availability, impaired bone mineralization, and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot4 A G 12: 84,088,737 (GRCm39) D195G probably damaging Het
Acsm1 G A 7: 119,235,861 (GRCm39) D194N probably benign Het
Akr1b1 T C 6: 34,281,254 (GRCm39) Y310C probably damaging Het
Aldh6a1 T C 12: 84,486,414 (GRCm39) D168G probably damaging Het
Ankrd29 A C 18: 12,408,795 (GRCm39) S166A probably benign Het
Ap1m2 T G 9: 21,216,979 (GRCm39) D119A probably damaging Het
Atp1a3 T C 7: 24,681,297 (GRCm39) K776R probably damaging Het
Bltp1 A G 3: 37,000,643 (GRCm39) D1274G possibly damaging Het
Cacna2d3 A C 14: 29,073,907 (GRCm39) probably null Het
Ccdc51 T C 9: 108,921,316 (GRCm39) M401T probably benign Het
Cchcr1 A G 17: 35,836,153 (GRCm39) probably benign Het
Cspg4 T C 9: 56,797,543 (GRCm39) S1336P possibly damaging Het
Ddx60 T A 8: 62,409,156 (GRCm39) D397E probably benign Het
Duox2 T C 2: 122,115,147 (GRCm39) H1110R probably damaging Het
Ephb3 C A 16: 21,041,031 (GRCm39) D696E probably benign Het
Ermap T C 4: 119,046,113 (GRCm39) K6E possibly damaging Het
Gm3095 A G 14: 15,170,388 (GRCm39) D79G possibly damaging Het
Hnrnpab A G 11: 51,496,305 (GRCm39) S126P probably benign Het
Hyou1 C A 9: 44,300,180 (GRCm39) S823* probably null Het
Klhl31 T A 9: 77,563,056 (GRCm39) V607E probably damaging Het
Klrc3 A T 6: 129,616,065 (GRCm39) C209S possibly damaging Het
Lhx4 G A 1: 155,577,975 (GRCm39) P389L probably benign Het
Lmntd2 T C 7: 140,791,952 (GRCm39) T264A probably benign Het
Mkx T C 18: 6,937,025 (GRCm39) D302G probably damaging Het
Ms4a4d T C 19: 11,533,610 (GRCm39) S164P possibly damaging Het
Myo1e A G 9: 70,269,552 (GRCm39) E651G probably benign Het
Myo5b G A 18: 74,750,151 (GRCm39) probably null Het
Ncoa3 A G 2: 165,894,352 (GRCm39) I298V probably benign Het
Nek1 G A 8: 61,497,120 (GRCm39) M389I probably benign Het
Nid1 T A 13: 13,642,897 (GRCm39) D278E probably benign Het
Nkx2-9 C T 12: 56,658,705 (GRCm39) V170M probably damaging Het
Or51ag1 T A 7: 103,155,210 (GRCm39) K314N probably benign Het
Oxsr1 T C 9: 119,070,260 (GRCm39) D511G possibly damaging Het
Pramel14 T A 4: 143,719,501 (GRCm39) probably null Het
Rbm44 T C 1: 91,080,799 (GRCm39) L329S possibly damaging Het
Setd7 A T 3: 51,457,688 (GRCm39) N46K probably damaging Het
Sult2a3 T A 7: 13,856,857 (GRCm39) E21V probably damaging Het
Tas2r135 T C 6: 42,383,382 (GRCm39) F307S probably benign Het
Tmem131l T C 3: 83,836,123 (GRCm39) probably benign Het
Tnfsf18 T G 1: 161,331,348 (GRCm39) M166R possibly damaging Het
Toe1 C T 4: 116,663,527 (GRCm39) V88M possibly damaging Het
Ttk T A 9: 83,744,540 (GRCm39) C577* probably null Het
Ush2a T A 1: 188,542,554 (GRCm39) Y3373* probably null Het
Vwa8 A G 14: 79,394,528 (GRCm39) D1543G probably benign Het
Zfhx4 A T 3: 5,455,468 (GRCm39) H1154L probably benign Het
Other mutations in Snx10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03099:Snx10 APN 6 51,556,840 (GRCm39) missense possibly damaging 0.65
BB002:Snx10 UTSW 6 51,557,301 (GRCm39) missense probably benign 0.03
BB012:Snx10 UTSW 6 51,557,301 (GRCm39) missense probably benign 0.03
R1867:Snx10 UTSW 6 51,552,890 (GRCm39) missense probably damaging 1.00
R2100:Snx10 UTSW 6 51,565,395 (GRCm39) missense probably damaging 0.99
R4626:Snx10 UTSW 6 51,565,270 (GRCm39) missense probably damaging 1.00
R4688:Snx10 UTSW 6 51,556,918 (GRCm39) missense probably damaging 1.00
R5386:Snx10 UTSW 6 51,552,952 (GRCm39) missense probably damaging 1.00
R7925:Snx10 UTSW 6 51,557,301 (GRCm39) missense probably benign 0.03
R8156:Snx10 UTSW 6 51,538,999 (GRCm39) splice site probably benign
R9460:Snx10 UTSW 6 51,565,888 (GRCm39) missense probably damaging 0.97
Posted On 2015-12-18