Incidental Mutation 'IGL01955:Snx17'
ID181434
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snx17
Ensembl Gene ENSMUSG00000029146
Gene Namesorting nexin 17
SynonymsD5Ertd260e, b2b1625.1Clo, 5830447M19Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.775) question?
Stock #IGL01955
Quality Score
Status
Chromosome5
Chromosomal Location31193227-31199143 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to G at 31197082 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143817 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031029] [ENSMUST00000031562] [ENSMUST00000077693] [ENSMUST00000114590] [ENSMUST00000114603] [ENSMUST00000166769] [ENSMUST00000200730] [ENSMUST00000201154] [ENSMUST00000201231] [ENSMUST00000201535] [ENSMUST00000201679] [ENSMUST00000201968] [ENSMUST00000202124] [ENSMUST00000202758] [ENSMUST00000202929]
Predicted Effect probably benign
Transcript: ENSMUST00000031029
SMART Domains Protein: ENSMUSP00000031029
Gene: ENSMUSG00000029146

DomainStartEndE-ValueType
PX 1 105 3.42e-24 SMART
B41 113 274 4.05e-2 SMART
low complexity region 324 342 N/A INTRINSIC
low complexity region 428 441 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000031562
SMART Domains Protein: ENSMUSP00000031562
Gene: ENSMUSG00000043059

DomainStartEndE-ValueType
low complexity region 35 55 N/A INTRINSIC
low complexity region 100 117 N/A INTRINSIC
low complexity region 121 144 N/A INTRINSIC
ZnF_C2H2 148 170 1.33e-1 SMART
ZnF_C2H2 176 198 2.86e-1 SMART
ZnF_C2H2 204 226 1.06e-4 SMART
low complexity region 227 238 N/A INTRINSIC
low complexity region 340 354 N/A INTRINSIC
ZnF_C2H2 358 380 1.03e-2 SMART
ZnF_C2H2 386 408 5.42e-2 SMART
ZnF_C2H2 414 436 2.91e-2 SMART
ZnF_C2H2 442 464 1.38e-3 SMART
ZnF_C2H2 470 492 5.06e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000077693
SMART Domains Protein: ENSMUSP00000076875
Gene: ENSMUSG00000029145

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
coiled coil region 29 60 N/A INTRINSIC
coiled coil region 93 122 N/A INTRINSIC
Pfam:IF-2B 219 510 3.4e-97 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114590
SMART Domains Protein: ENSMUSP00000110238
Gene: ENSMUSG00000043059

DomainStartEndE-ValueType
low complexity region 37 57 N/A INTRINSIC
low complexity region 102 119 N/A INTRINSIC
low complexity region 123 146 N/A INTRINSIC
ZnF_C2H2 150 172 1.33e-1 SMART
ZnF_C2H2 178 200 2.86e-1 SMART
ZnF_C2H2 206 228 1.06e-4 SMART
low complexity region 229 240 N/A INTRINSIC
low complexity region 342 356 N/A INTRINSIC
ZnF_C2H2 360 382 1.03e-2 SMART
ZnF_C2H2 388 410 5.42e-2 SMART
ZnF_C2H2 416 438 2.91e-2 SMART
ZnF_C2H2 444 466 1.38e-3 SMART
ZnF_C2H2 472 494 5.06e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114603
SMART Domains Protein: ENSMUSP00000110250
Gene: ENSMUSG00000029145

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
coiled coil region 49 80 N/A INTRINSIC
coiled coil region 113 142 N/A INTRINSIC
Pfam:IF-2B 239 530 3.8e-97 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166769
SMART Domains Protein: ENSMUSP00000130880
Gene: ENSMUSG00000029145

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
coiled coil region 49 80 N/A INTRINSIC
coiled coil region 113 142 N/A INTRINSIC
Pfam:IF-2B 239 530 3.8e-97 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200730
SMART Domains Protein: ENSMUSP00000144504
Gene: ENSMUSG00000029146

DomainStartEndE-ValueType
PX 1 87 2.3e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200983
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200992
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201078
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201119
Predicted Effect probably benign
Transcript: ENSMUST00000201154
SMART Domains Protein: ENSMUSP00000143802
Gene: ENSMUSG00000029145

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
coiled coil region 49 80 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000201231
SMART Domains Protein: ENSMUSP00000144172
Gene: ENSMUSG00000043059

DomainStartEndE-ValueType
low complexity region 35 55 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201343
Predicted Effect probably benign
Transcript: ENSMUST00000201535
SMART Domains Protein: ENSMUSP00000144643
Gene: ENSMUSG00000029146

DomainStartEndE-ValueType
Blast:PX 1 23 3e-7 BLAST
PDB:3LUI|C 1 23 3e-8 PDB
low complexity region 24 35 N/A INTRINSIC
Blast:B41 36 169 5e-92 BLAST
PDB:4GXB|A 36 169 4e-90 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000201679
SMART Domains Protein: ENSMUSP00000144688
Gene: ENSMUSG00000029146

DomainStartEndE-ValueType
Pfam:PX 6 67 2.7e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201835
Predicted Effect probably benign
Transcript: ENSMUST00000201968
SMART Domains Protein: ENSMUSP00000144517
Gene: ENSMUSG00000043059

DomainStartEndE-ValueType
low complexity region 80 92 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202032
Predicted Effect probably benign
Transcript: ENSMUST00000202124
SMART Domains Protein: ENSMUSP00000144168
Gene: ENSMUSG00000029146

DomainStartEndE-ValueType
Blast:PX 1 31 6e-8 BLAST
PDB:3LUI|C 1 31 4e-9 PDB
low complexity region 41 54 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202318
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202323
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202743
Predicted Effect probably benign
Transcript: ENSMUST00000202758
SMART Domains Protein: ENSMUSP00000144361
Gene: ENSMUSG00000029145

DomainStartEndE-ValueType
coiled coil region 71 102 N/A INTRINSIC
coiled coil region 135 164 N/A INTRINSIC
Pfam:IF-2B 261 552 2.3e-97 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000202929
SMART Domains Protein: ENSMUSP00000143817
Gene: ENSMUSG00000043059

DomainStartEndE-ValueType
low complexity region 50 67 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, but contains a B41 domain. This protein interacts with the cytoplasmic domain of P-selectin, and may function in the intracellular trafficking of P-selectin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for an ENU_induced mutation exhibit double outlet right ventricle (DORV)/overriding aorta (Ao) and atrioventricular septal defect (AVSD). Noncardiac phenotypes include anopthalmia and duplex kidneys. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik G T 7: 29,573,995 noncoding transcript Het
Abcc1 T A 16: 14,410,795 I302N probably damaging Het
Abhd16a A G 17: 35,101,340 S394G probably damaging Het
Adgrv1 T C 13: 81,182,783 Y71C probably damaging Het
Apol8 A G 15: 77,749,699 C226R probably benign Het
Armc4 C T 18: 7,127,291 R974Q possibly damaging Het
Bbs7 A G 3: 36,610,322 S45P probably benign Het
Cacna1b T C 2: 24,639,137 Y1575C probably damaging Het
Cckbr T A 7: 105,434,962 V301E probably damaging Het
Cwc27 A G 13: 104,807,737 Y79H probably damaging Het
Dchs1 T C 7: 105,757,591 T2236A probably benign Het
Ddx50 T C 10: 62,647,183 R36G probably benign Het
Extl3 T A 14: 65,075,966 Y589F probably benign Het
Gab2 T C 7: 97,304,223 V601A probably damaging Het
Hsd3b1 T A 3: 98,853,147 N176I probably benign Het
L3mbtl3 A T 10: 26,318,438 S420R unknown Het
Olfr1000 A G 2: 85,608,707 F68L probably benign Het
Olfr319 T C 11: 58,702,129 S143P probably damaging Het
Olfr589 T A 7: 103,154,854 K298* probably null Het
Polr2a T C 11: 69,741,848 D974G probably damaging Het
Ptges3l T C 11: 101,423,818 K13E possibly damaging Het
Ptprk A G 10: 28,595,865 probably benign Het
Rassf3 T C 10: 121,417,122 Y60C probably damaging Het
Rnf157 T C 11: 116,359,896 T160A probably damaging Het
Secisbp2l A G 2: 125,743,812 probably null Het
Setd2 A G 9: 110,549,318 T734A probably benign Het
Skint5 A G 4: 113,623,736 probably null Het
Slc38a9 A G 13: 112,695,418 probably benign Het
Tas2r113 A T 6: 132,893,854 M282L probably benign Het
Tbc1d31 A G 15: 57,942,370 N404D probably benign Het
Tmem63c A T 12: 87,077,208 I487F probably benign Het
Tpm3 A G 3: 90,088,435 M164V probably benign Het
Trafd1 G T 5: 121,375,154 N340K probably benign Het
Trpv4 T A 5: 114,622,682 K863* probably null Het
Ttn A T 2: 76,797,352 M13003K possibly damaging Het
Tulp1 G A 17: 28,356,424 T103M probably damaging Het
Unc5b T C 10: 60,778,255 T272A probably benign Het
Vmn1r82 A C 7: 12,305,723 probably null Het
Zc3h7b A G 15: 81,792,004 N704D probably benign Het
Other mutations in Snx17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00771:Snx17 APN 5 31197335 missense probably damaging 0.99
IGL01406:Snx17 APN 5 31195994 missense probably damaging 1.00
IGL02724:Snx17 APN 5 31197046 missense probably damaging 1.00
IGL03032:Snx17 APN 5 31196011 missense probably benign 0.03
IGL03277:Snx17 APN 5 31195740 unclassified probably benign
R0542:Snx17 UTSW 5 31196551 critical splice donor site probably null
R1188:Snx17 UTSW 5 31195822 missense probably benign 0.18
R4597:Snx17 UTSW 5 31198513 unclassified probably benign
R4983:Snx17 UTSW 5 31195794 missense possibly damaging 0.80
R7156:Snx17 UTSW 5 31197348 missense probably damaging 1.00
R7583:Snx17 UTSW 5 31196533 missense possibly damaging 0.61
R7711:Snx17 UTSW 5 31195460 missense probably damaging 0.97
R7712:Snx17 UTSW 5 31195460 missense probably damaging 0.97
Z1176:Snx17 UTSW 5 31196993 missense probably damaging 1.00
Posted On2014-05-07