Incidental Mutation 'R2100:Snx10'
ID 230430
Institutional Source Beutler Lab
Gene Symbol Snx10
Ensembl Gene ENSMUSG00000038301
Gene Name sorting nexin 10
Synonyms 2410004M09Rik
MMRRC Submission 040104-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2100 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 51500882-51567659 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 51565395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 171 (Y171H)
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: Y171H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000044165
Gene: ENSMUSG00000038301
AA Change: Y171H

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: Y171H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110082
Gene: ENSMUSG00000038301
AA Change: Y171H

DomainStartEndE-ValueType
PX 8 124 7.99e-16 SMART
low complexity region 172 191 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000137212
AA Change: Y171H

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117914
Gene: ENSMUSG00000038301
AA Change: Y171H

DomainStartEndE-ValueType
PX 8 124 7.99e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000149024
Predicted Effect probably damaging
Transcript: ENSMUST00000179365
AA Change: Y171H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000136974
Gene: ENSMUSG00000038301
AA Change: Y171H

DomainStartEndE-ValueType
PX 8 124 7.99e-16 SMART
low complexity region 172 191 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 C T 17: 24,627,183 (GRCm39) R1295W probably damaging Het
Abca8b A T 11: 109,828,608 (GRCm39) I1430N probably damaging Het
Abcb1a A G 5: 8,763,202 (GRCm39) T577A probably damaging Het
Arl5b G A 2: 15,078,006 (GRCm39) M101I probably benign Het
C1qbp T A 11: 70,868,928 (GRCm39) N278I probably benign Het
Cdh1 A T 8: 107,386,300 (GRCm39) T408S possibly damaging Het
Cfap54 T A 10: 92,837,799 (GRCm39) I1034F possibly damaging Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Chil4 T C 3: 106,121,663 (GRCm39) K62R probably benign Het
Crebl2 A G 6: 134,828,166 (GRCm39) T113A probably benign Het
Cyp2c69 C A 19: 39,875,130 (GRCm39) V8L probably benign Het
Dpp6 A G 5: 27,869,742 (GRCm39) R447G probably damaging Het
Efcab6 A T 15: 83,777,168 (GRCm39) probably null Het
Emilin1 T G 5: 31,075,241 (GRCm39) V494G probably benign Het
Enoph1 A G 5: 100,211,645 (GRCm39) I181V probably null Het
F3 T C 3: 121,526,082 (GRCm39) V215A possibly damaging Het
Fads2b T C 2: 85,330,593 (GRCm39) N238S probably damaging Het
Fat3 G T 9: 16,288,726 (GRCm39) H266N possibly damaging Het
Frmd4a A G 2: 4,610,834 (GRCm39) T995A probably damaging Het
Garnl3 T C 2: 32,936,657 (GRCm39) T171A probably benign Het
Hspa4l T C 3: 40,727,090 (GRCm39) V476A possibly damaging Het
Impg2 A G 16: 56,051,748 (GRCm39) probably null Het
Kctd6 T C 14: 8,222,239 (GRCm38) L27P possibly damaging Het
Kmt2d G T 15: 98,744,361 (GRCm39) probably benign Het
Kremen1 AGGCGG AGGCGGCGG 11: 5,151,788 (GRCm39) probably benign Het
Lrig2 A G 3: 104,418,946 (GRCm39) L21P possibly damaging Het
Macf1 G A 4: 123,291,699 (GRCm39) Q3284* probably null Het
Mnt A G 11: 74,722,177 (GRCm39) E8G probably damaging Het
Nbeal1 A G 1: 60,344,430 (GRCm39) probably null Het
Nid2 C T 14: 19,828,946 (GRCm39) Q331* probably null Het
Nlrx1 A G 9: 44,173,905 (GRCm39) L432P probably damaging Het
Nop2 T A 6: 125,117,785 (GRCm39) D445E probably damaging Het
Nup62 T C 7: 44,478,921 (GRCm39) probably benign Het
Oas2 A G 5: 120,883,740 (GRCm39) probably null Het
Or5b121 A G 19: 13,507,798 (GRCm39) I298V probably benign Het
Or5p1 A T 7: 107,916,761 (GRCm39) Y220F probably benign Het
Or5w10 T A 2: 87,375,169 (GRCm39) T240S probably damaging Het
Or8k40 A T 2: 86,584,905 (GRCm39) M59K possibly damaging Het
Or9i14 A G 19: 13,792,600 (GRCm39) M118T possibly damaging Het
P3h3 T A 6: 124,822,005 (GRCm39) T623S probably damaging Het
Pkp3 T C 7: 140,663,205 (GRCm39) V350A probably damaging Het
Plekha3 T A 2: 76,523,007 (GRCm39) I225N probably benign Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rnf213 A T 11: 119,358,128 (GRCm39) K4292* probably null Het
Rtkn T C 6: 83,126,541 (GRCm39) probably null Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Stx12 A T 4: 132,587,913 (GRCm39) I173N possibly damaging Het
Thrb T A 14: 18,030,393 (GRCm38) M379K possibly damaging Het
Tmem132e T A 11: 82,335,357 (GRCm39) V813E probably damaging Het
Tnfsf12 T C 11: 69,578,175 (GRCm39) E134G probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tpbgl T A 7: 99,275,651 (GRCm39) I69F possibly damaging Het
Ythdc1 T A 5: 86,964,544 (GRCm39) S130T possibly damaging Het
Zbp1 A G 2: 173,051,037 (GRCm39) S278P probably damaging Het
Zfp30 A G 7: 29,492,951 (GRCm39) T483A probably benign Het
Zfp322a G A 13: 23,541,460 (GRCm39) S94L possibly damaging Het
Zfp646 T G 7: 127,481,359 (GRCm39) Y1179D probably damaging Het
Other mutations in Snx10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02806:Snx10 APN 6 51,565,329 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TCTTGCTTTCCGATAGCAGC -3'
(R):5'- GCATTCATTAATTCAGTGTGGAGG -3'

Sequencing Primer
(F):5'- TTCCGATAGCAGCCTCCAC -3'
(R):5'- TGTGAAGACCACTATGATGAGCTGTC -3'
Posted On 2014-09-18