Incidental Mutation 'IGL02806:Snx10'
ID360414
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snx10
Ensembl Gene ENSMUSG00000038301
Gene Namesorting nexin 10
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02806
Quality Score
Status
Chromosome6
Chromosomal Location51523901-51590679 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 51588349 bp
ZygosityHeterozygous
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]
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
4932438A13Rik A G 3: 36,946,494 D1274G possibly damaging Het
Acot4 A G 12: 84,041,963 D195G probably damaging Het
Acsm1 G A 7: 119,636,638 D194N probably benign Het
Akr1b3 T C 6: 34,304,319 Y310C probably damaging Het
Aldh6a1 T C 12: 84,439,640 D168G probably damaging Het
Ankrd29 A C 18: 12,275,738 S166A probably benign Het
Ap1m2 T G 9: 21,305,683 D119A probably damaging Het
Atp1a3 T C 7: 24,981,872 K776R probably damaging Het
Cacna2d3 A C 14: 29,351,950 probably null Het
Ccdc51 T C 9: 109,092,248 M401T probably benign Het
Cchcr1 A G 17: 35,525,256 probably benign Het
Cspg4 T C 9: 56,890,259 S1336P possibly damaging Het
Ddx60 T A 8: 61,956,122 D397E probably benign Het
Duox2 T C 2: 122,284,666 H1110R probably damaging Het
Ephb3 C A 16: 21,222,281 D696E probably benign Het
Ermap T C 4: 119,188,916 K6E possibly damaging Het
Gm3095 A G 14: 3,964,519 D79G possibly damaging Het
Hnrnpab A G 11: 51,605,478 S126P probably benign Het
Hyou1 C A 9: 44,388,883 S823* probably null Het
Klhl31 T A 9: 77,655,774 V607E probably damaging Het
Klrc3 A T 6: 129,639,102 C209S possibly damaging Het
Lhx4 G A 1: 155,702,229 P389L probably benign Het
Lmntd2 T C 7: 141,212,039 T264A probably benign Het
Mkx T C 18: 6,937,025 D302G probably damaging Het
Ms4a4d T C 19: 11,556,246 S164P possibly damaging Het
Myo1e A G 9: 70,362,270 E651G probably benign Het
Myo5b G A 18: 74,617,080 probably null Het
Ncoa3 A G 2: 166,052,432 I298V probably benign Het
Nek1 G A 8: 61,044,086 M389I probably benign Het
Nid1 T A 13: 13,468,312 D278E probably benign Het
Nkx2-9 C T 12: 56,611,920 V170M probably damaging Het
Olfr610 T A 7: 103,506,003 K314N probably benign Het
Oxsr1 T C 9: 119,241,194 D511G possibly damaging Het
Pramef17 T A 4: 143,992,931 probably null Het
Rbm44 T C 1: 91,153,077 L329S possibly damaging Het
Setd7 A T 3: 51,550,267 N46K probably damaging Het
Sult2a3 T A 7: 14,122,932 E21V probably damaging Het
Tas2r135 T C 6: 42,406,448 F307S probably benign Het
Tmem131l T C 3: 83,928,816 probably benign Het
Tnfsf18 T G 1: 161,503,779 M166R possibly damaging Het
Toe1 C T 4: 116,806,330 V88M possibly damaging Het
Ttk T A 9: 83,862,487 C577* probably null Het
Ush2a T A 1: 188,810,357 Y3373* probably null Het
Vwa8 A G 14: 79,157,088 D1543G probably benign Het
Zfhx4 A T 3: 5,390,408 H1154L probably benign Het
Other mutations in Snx10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03099:Snx10 APN 6 51579860 missense possibly damaging 0.65
R1867:Snx10 UTSW 6 51575910 missense probably damaging 1.00
R2100:Snx10 UTSW 6 51588415 missense probably damaging 0.99
R4626:Snx10 UTSW 6 51588290 missense probably damaging 1.00
R4688:Snx10 UTSW 6 51579938 missense probably damaging 1.00
R5386:Snx10 UTSW 6 51575972 missense probably damaging 1.00
R8156:Snx10 UTSW 6 51562019 splice site probably benign
Posted On2015-12-18