Incidental Mutation 'R4465:Snx25'
ID 330307
Institutional Source Beutler Lab
Gene Symbol Snx25
Ensembl Gene ENSMUSG00000038291
Gene Name sorting nexin 25
Synonyms LOC382008, SBBI31
MMRRC Submission 041580-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4465 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 46486298-46605196 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46521266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 373 (S373P)
Ref Sequence ENSEMBL: ENSMUSP00000106007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041582] [ENSMUST00000110377] [ENSMUST00000110378] [ENSMUST00000170416]
AlphaFold Q3ZT31
Predicted Effect possibly damaging
Transcript: ENSMUST00000041582
AA Change: S227P

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000035785
Gene: ENSMUSG00000038291
AA Change: S227P

DomainStartEndE-ValueType
Pfam:PXA 1 163 9e-32 PFAM
RGS 287 401 6.62e-10 SMART
low complexity region 421 438 N/A INTRINSIC
PX 512 624 1.38e-10 SMART
low complexity region 658 663 N/A INTRINSIC
low complexity region 664 676 N/A INTRINSIC
Pfam:Nexin_C 701 808 1.7e-35 PFAM
low complexity region 812 828 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110377
SMART Domains Protein: ENSMUSP00000106006
Gene: ENSMUSG00000038291

DomainStartEndE-ValueType
Pfam:PXA 1 138 5.8e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110378
AA Change: S373P

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000106007
Gene: ENSMUSG00000038291
AA Change: S373P

DomainStartEndE-ValueType
low complexity region 17 31 N/A INTRINSIC
transmembrane domain 44 66 N/A INTRINSIC
transmembrane domain 78 100 N/A INTRINSIC
Pfam:PXA 145 306 8.7e-30 PFAM
RGS 433 547 6.62e-10 SMART
low complexity region 567 584 N/A INTRINSIC
PX 658 770 1.38e-10 SMART
low complexity region 804 809 N/A INTRINSIC
low complexity region 810 822 N/A INTRINSIC
Pfam:Nexin_C 847 953 1e-28 PFAM
low complexity region 958 974 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000144244
AA Change: S46P
Predicted Effect possibly damaging
Transcript: ENSMUST00000170416
AA Change: S227P

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000127640
Gene: ENSMUSG00000038291
AA Change: S227P

DomainStartEndE-ValueType
Pfam:PXA 1 163 9e-32 PFAM
RGS 287 401 6.62e-10 SMART
low complexity region 421 438 N/A INTRINSIC
PX 512 624 1.38e-10 SMART
low complexity region 658 663 N/A INTRINSIC
low complexity region 664 676 N/A INTRINSIC
Pfam:Nexin_C 701 808 1.7e-35 PFAM
low complexity region 812 828 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176410
Predicted Effect probably benign
Transcript: ENSMUST00000177186
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
Acsbg2 A G 17: 57,168,580 (GRCm39) Y180H probably damaging Het
Adgrb3 G T 1: 25,133,447 (GRCm39) T1213K probably damaging Het
Atrn A G 2: 130,802,388 (GRCm39) T510A probably benign Het
Clasp1 C A 1: 118,488,808 (GRCm39) T857N probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Col12a1 C A 9: 79,580,192 (GRCm39) V1562F possibly damaging Het
Cyp4f40 T A 17: 32,890,186 (GRCm39) D285E probably benign Het
Dis3 G A 14: 99,321,550 (GRCm39) S599L possibly damaging Het
Dnah11 T C 12: 117,951,186 (GRCm39) T3041A probably benign Het
Erbin T C 13: 103,981,393 (GRCm39) N511D probably benign Het
F11 T A 8: 45,694,511 (GRCm39) I617F probably damaging Het
Gm11541 A T 11: 94,595,048 (GRCm39) C7S unknown Het
Klk12 A T 7: 43,422,807 (GRCm39) R245W probably damaging Het
Lao1 C A 4: 118,822,504 (GRCm39) S141R probably benign Het
Lrrk2 A G 15: 91,632,023 (GRCm39) K1316E probably damaging Het
Map3k6 A G 4: 132,973,644 (GRCm39) Y445C possibly damaging Het
Mup6 T C 4: 60,004,000 (GRCm39) I31T probably damaging Het
Ndnf T A 6: 65,681,180 (GRCm39) D486E probably benign Het
Or2a54 T C 6: 43,092,852 (GRCm39) Y59H probably damaging Het
Or8h7 A T 2: 86,721,494 (GRCm39) N8K probably benign Het
Or8k37 A T 2: 86,469,478 (GRCm39) N191K probably benign Het
Rab19 T C 6: 39,365,060 (GRCm39) S107P probably damaging Het
Slc22a29 A T 19: 8,140,088 (GRCm39) L439* probably null Het
Slc5a1 A G 5: 33,303,860 (GRCm39) E225G possibly damaging Het
Slx4 A G 16: 3,806,919 (GRCm39) V508A possibly damaging Het
Stag2 A G X: 41,322,749 (GRCm39) S400G probably benign Homo
Tas2r107 A G 6: 131,636,972 (GRCm39) Y26H probably benign Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Zdhhc22 G A 12: 87,034,997 (GRCm39) L152F probably benign Het
Zfpm2 T G 15: 40,959,557 (GRCm39) M80R probably benign Het
Other mutations in Snx25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Snx25 APN 8 46,491,513 (GRCm39) missense probably damaging 1.00
IGL01432:Snx25 APN 8 46,558,197 (GRCm39) missense probably damaging 0.96
IGL01600:Snx25 APN 8 46,569,347 (GRCm39) missense probably benign 0.00
IGL02150:Snx25 APN 8 46,569,318 (GRCm39) missense possibly damaging 0.89
IGL02386:Snx25 APN 8 46,494,386 (GRCm39) missense possibly damaging 0.93
IGL02691:Snx25 APN 8 46,558,302 (GRCm39) missense possibly damaging 0.88
IGL03338:Snx25 APN 8 46,498,247 (GRCm39) missense probably benign 0.04
IGL03377:Snx25 APN 8 46,533,338 (GRCm39) unclassified probably benign
duo UTSW 8 46,577,119 (GRCm39) start codon destroyed probably null 0.88
R0047:Snx25 UTSW 8 46,494,402 (GRCm39) missense probably damaging 0.99
R0047:Snx25 UTSW 8 46,494,402 (GRCm39) missense probably damaging 0.99
R0048:Snx25 UTSW 8 46,558,146 (GRCm39) splice site probably benign
R0048:Snx25 UTSW 8 46,558,146 (GRCm39) splice site probably benign
R0056:Snx25 UTSW 8 46,491,550 (GRCm39) missense probably damaging 1.00
R0546:Snx25 UTSW 8 46,556,667 (GRCm39) missense probably benign 0.00
R0791:Snx25 UTSW 8 46,577,119 (GRCm39) start codon destroyed probably null 0.88
R1165:Snx25 UTSW 8 46,488,752 (GRCm39) missense probably damaging 0.99
R1255:Snx25 UTSW 8 46,569,275 (GRCm39) missense probably benign 0.13
R1262:Snx25 UTSW 8 46,558,328 (GRCm39) missense probably damaging 0.98
R1522:Snx25 UTSW 8 46,577,119 (GRCm39) start codon destroyed probably null 0.88
R1652:Snx25 UTSW 8 46,502,510 (GRCm39) missense probably damaging 0.99
R1710:Snx25 UTSW 8 46,569,244 (GRCm39) missense possibly damaging 0.69
R1829:Snx25 UTSW 8 46,488,669 (GRCm39) missense possibly damaging 0.82
R2090:Snx25 UTSW 8 46,509,150 (GRCm39) missense probably damaging 1.00
R2158:Snx25 UTSW 8 46,494,444 (GRCm39) missense probably damaging 1.00
R2906:Snx25 UTSW 8 46,502,560 (GRCm39) splice site probably null
R4244:Snx25 UTSW 8 46,558,291 (GRCm39) missense probably damaging 0.98
R4394:Snx25 UTSW 8 46,488,715 (GRCm39) missense probably damaging 1.00
R4586:Snx25 UTSW 8 46,569,474 (GRCm39) intron probably benign
R4663:Snx25 UTSW 8 46,488,616 (GRCm39) missense probably damaging 1.00
R4961:Snx25 UTSW 8 46,521,229 (GRCm39) missense probably damaging 0.99
R5104:Snx25 UTSW 8 46,521,203 (GRCm39) makesense probably null
R5634:Snx25 UTSW 8 46,494,428 (GRCm39) missense possibly damaging 0.94
R6128:Snx25 UTSW 8 46,558,240 (GRCm39) missense probably benign 0.01
R6344:Snx25 UTSW 8 46,488,675 (GRCm39) nonsense probably null
R6382:Snx25 UTSW 8 46,509,028 (GRCm39) missense probably benign
R6523:Snx25 UTSW 8 46,508,892 (GRCm39) missense probably damaging 0.96
R6798:Snx25 UTSW 8 46,486,810 (GRCm39) missense probably damaging 0.98
R7143:Snx25 UTSW 8 46,488,752 (GRCm39) missense possibly damaging 0.92
R7147:Snx25 UTSW 8 46,558,233 (GRCm39) missense probably damaging 0.98
R7519:Snx25 UTSW 8 46,569,309 (GRCm39) missense probably damaging 1.00
R7723:Snx25 UTSW 8 46,491,516 (GRCm39) missense probably damaging 1.00
R9084:Snx25 UTSW 8 46,521,203 (GRCm39) makesense probably null
R9519:Snx25 UTSW 8 46,486,783 (GRCm39) missense probably damaging 1.00
RF002:Snx25 UTSW 8 46,569,218 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- ATTTACCTTTTGGCTCTGAGGC -3'
(R):5'- ACACATGCCTGTAATAATACATGCC -3'

Sequencing Primer
(F):5'- GCTCTGAGGCCCTTCCC -3'
(R):5'- AGGTGCAGGCCTTTAATCAC -3'
Posted On 2015-07-21