Incidental Mutation 'IGL03099:Snx10'
ID 418661
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 # IGL03099
Quality Score
Status
Chromosome 6
Chromosomal Location 51500882-51567659 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 51556840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 41 (M41K)
Ref Sequence ENSEMBL: ENSMUSP00000117914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049152] [ENSMUST00000114439] [ENSMUST00000137212] [ENSMUST00000140560] [ENSMUST00000149024] [ENSMUST00000179365]
AlphaFold Q9CWT3
Predicted Effect probably benign
Transcript: ENSMUST00000049152
AA Change: M41K

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000044165
Gene: ENSMUSG00000038301
AA Change: M41K

DomainStartEndE-ValueType
PX 8 124 7.99e-16 SMART
low complexity region 172 191 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114439
AA Change: M41K

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000110082
Gene: ENSMUSG00000038301
AA Change: M41K

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: M41K

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117914
Gene: ENSMUSG00000038301
AA Change: M41K

DomainStartEndE-ValueType
PX 8 124 7.99e-16 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000140560
AA Change: M41K

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000122639
Gene: ENSMUSG00000038301
AA Change: M41K

DomainStartEndE-ValueType
Pfam:PX 8 96 2.4e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149024
Predicted Effect probably benign
Transcript: ENSMUST00000179365
AA Change: M41K

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000136974
Gene: ENSMUSG00000038301
AA Change: M41K

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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akp3 C A 1: 87,055,328 (GRCm39) F458L probably benign Het
Alpi A G 1: 87,026,353 (GRCm39) L546P unknown Het
Arpc5l A G 2: 38,903,844 (GRCm39) Y111C probably damaging Het
Atp11a T C 8: 12,877,462 (GRCm39) F296S possibly damaging Het
Bbof1 C T 12: 84,473,539 (GRCm39) Q290* probably null Het
Brinp3 A T 1: 146,777,835 (GRCm39) T761S possibly damaging Het
Cyp2j6 A T 4: 96,424,328 (GRCm39) M143K possibly damaging Het
Daw1 T C 1: 83,157,088 (GRCm39) probably null Het
Dst A G 1: 34,314,862 (GRCm39) N6498D probably damaging Het
Fbxo15 T C 18: 84,999,338 (GRCm39) L380P possibly damaging Het
Glce A T 9: 61,967,344 (GRCm39) F602L probably benign Het
Gpatch1 A G 7: 34,996,948 (GRCm39) S417P possibly damaging Het
Hjurp T C 1: 88,194,011 (GRCm39) K223R probably benign Het
Hnrnpm C T 17: 33,888,146 (GRCm39) C113Y probably damaging Het
Igkv4-71 T C 6: 69,220,399 (GRCm39) M11V probably benign Het
Insr G T 8: 3,308,715 (GRCm39) T107K probably damaging Het
Mdm4 G A 1: 132,919,947 (GRCm39) T306M probably damaging Het
Nek11 T C 9: 105,164,852 (GRCm39) I425V probably benign Het
Otop3 T A 11: 115,230,408 (GRCm39) V95E probably damaging Het
Scn3a G A 2: 65,367,016 (GRCm39) A2V probably damaging Het
Sos2 T A 12: 69,663,133 (GRCm39) N588Y probably damaging Het
Srrm3 C A 5: 135,898,152 (GRCm39) probably benign Het
Tbc1d19 G T 5: 54,040,997 (GRCm39) probably benign Het
Vmn2r68 T A 7: 84,871,448 (GRCm39) K612* probably null Het
Other mutations in Snx10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02806:Snx10 APN 6 51,565,329 (GRCm39) missense probably damaging 1.00
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 2016-08-02