Incidental Mutation 'R7156:Snx17'
ID 557293
Institutional Source Beutler Lab
Gene Symbol Snx17
Ensembl Gene ENSMUSG00000029146
Gene Name sorting nexin 17
Synonyms D5Ertd260e, 5830447M19Rik, b2b1625.1Clo
MMRRC Submission 045257-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.331) question?
Stock # R7156 (G1)
Quality Score 213.009
Status Validated
Chromosome 5
Chromosomal Location 31350634-31356244 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 31354692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 318 (M318K)
Ref Sequence ENSEMBL: ENSMUSP00000031029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031029] [ENSMUST00000031562] [ENSMUST00000077693] [ENSMUST00000114590] [ENSMUST00000114603] [ENSMUST00000166769] [ENSMUST00000200730] [ENSMUST00000201154] [ENSMUST00000201231] [ENSMUST00000201535] [ENSMUST00000201679] [ENSMUST00000201968] [ENSMUST00000202124] [ENSMUST00000202758] [ENSMUST00000202929]
AlphaFold Q8BVL3
Predicted Effect probably damaging
Transcript: ENSMUST00000031029
AA Change: M318K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031029
Gene: ENSMUSG00000029146
AA Change: M318K

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 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 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 probably benign
Transcript: ENSMUST00000201968
SMART Domains Protein: ENSMUSP00000144517
Gene: ENSMUSG00000043059

DomainStartEndE-ValueType
low complexity region 80 92 N/A INTRINSIC
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 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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (81/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik T C 7: 40,643,282 (GRCm39) I317T possibly damaging Het
Acsl5 G A 19: 55,257,260 (GRCm39) probably null Het
Ahrr G A 13: 74,378,035 (GRCm39) T136I probably damaging Het
AI597479 G A 1: 43,150,261 (GRCm39) D124N probably damaging Het
Arap2 G T 5: 62,761,914 (GRCm39) A1604D probably damaging Het
Bcl6 G A 16: 23,784,976 (GRCm39) R675* probably null Het
Cadps2 T C 6: 23,688,955 (GRCm39) N118S probably benign Het
Caskin1 T A 17: 24,719,657 (GRCm39) probably null Het
Cc2d1a C T 8: 84,862,389 (GRCm39) V684M possibly damaging Het
Ccdc91 T C 6: 147,435,676 (GRCm39) S87P possibly damaging Het
Cdr2l A G 11: 115,281,792 (GRCm39) Q99R probably benign Het
Celsr3 T C 9: 108,715,203 (GRCm39) L2066P possibly damaging Het
Cep95 A C 11: 106,700,050 (GRCm39) L313F possibly damaging Het
Chst10 G A 1: 38,913,088 (GRCm39) T63M probably damaging Het
Clrn2 G A 5: 45,611,258 (GRCm39) G36R probably damaging Het
Cnn2 T G 10: 79,830,349 (GRCm39) Y273* probably null Het
Crtap T C 9: 114,207,164 (GRCm39) T365A probably benign Het
D630045J12Rik T C 6: 38,171,964 (GRCm39) T735A possibly damaging Het
Disp2 C T 2: 118,622,292 (GRCm39) A1008V probably damaging Het
Dmrt3 A G 19: 25,588,317 (GRCm39) D52G probably damaging Het
Dmrta1 T G 4: 89,576,700 (GRCm39) L52R probably damaging Het
Dmrta2 A G 4: 109,839,185 (GRCm39) T311A probably damaging Het
Dnm1 T A 2: 32,230,479 (GRCm39) N112Y probably damaging Het
Dysf T C 6: 84,064,858 (GRCm39) probably null Het
Ep400 A G 5: 110,833,229 (GRCm39) F2034L unknown Het
F12 G A 13: 55,566,310 (GRCm39) A494V probably damaging Het
Fbp2 A T 13: 62,989,675 (GRCm39) F210L probably benign Het
Fbxo31 T A 8: 122,281,060 (GRCm39) Q362L possibly damaging Het
Fkbp4 C T 6: 128,412,787 (GRCm39) A95T probably benign Het
Frmd6 T G 12: 70,923,983 (GRCm39) C80W probably damaging Het
Fsip2 A G 2: 82,813,085 (GRCm39) I3135V probably benign Het
Garre1 G T 7: 33,945,133 (GRCm39) N582K possibly damaging Het
Guca2b T A 4: 119,514,887 (GRCm39) E34V probably damaging Het
Hdlbp G A 1: 93,341,637 (GRCm39) T974I probably damaging Het
Hsdl2 T A 4: 59,617,653 (GRCm39) M460K possibly damaging Het
Ift172 C T 5: 31,429,419 (GRCm39) V581M probably damaging Het
Ift74 A G 4: 94,549,189 (GRCm39) K313R possibly damaging Het
Ints4 T A 7: 97,184,493 (GRCm39) probably null Het
Iqca1l C T 5: 24,757,648 (GRCm39) E150K probably benign Het
Kif21b A C 1: 136,075,562 (GRCm39) T230P probably damaging Het
Kit A T 5: 75,776,034 (GRCm39) Y272F probably benign Het
Krt77 G A 15: 101,773,931 (GRCm39) T241M probably benign Het
Lce1j T A 3: 92,696,491 (GRCm39) S96C unknown Het
Marveld3 T A 8: 110,674,820 (GRCm39) D332V probably damaging Het
Matr3 G T 18: 35,705,974 (GRCm39) V300F probably damaging Het
Mical1 T A 10: 41,361,253 (GRCm39) probably null Het
Mslnl T A 17: 25,962,184 (GRCm39) V194E probably benign Het
Mug1 C A 6: 121,857,864 (GRCm39) T1119K probably damaging Het
Mug1 C T 6: 121,861,302 (GRCm39) P1308S probably damaging Het
Neb C A 2: 52,195,295 (GRCm39) probably null Het
Neo1 T A 9: 58,810,206 (GRCm39) T1082S probably damaging Het
Nkx6-2 C T 7: 139,162,045 (GRCm39) probably null Het
Or10g6 T C 9: 39,934,526 (GRCm39) I279T probably benign Het
Or8k27 T A 2: 86,275,652 (GRCm39) I225L probably damaging Het
Orc1 A T 4: 108,452,656 (GRCm39) E177V probably benign Het
Parp1 G A 1: 180,426,629 (GRCm39) V924I possibly damaging Het
Pax2 A T 19: 44,777,298 (GRCm39) I165F probably benign Het
Pnma2 C T 14: 67,153,980 (GRCm39) P135S probably benign Het
Ranbp17 A G 11: 33,247,420 (GRCm39) I718T probably damaging Het
Rbm25 T A 12: 83,710,965 (GRCm39) D359E unknown Het
Rgs3 T C 4: 62,535,363 (GRCm39) L194P probably damaging Het
Serpinb6b A G 13: 33,155,598 (GRCm39) I104V probably benign Het
Smg9 A G 7: 24,120,286 (GRCm39) D420G probably benign Het
Smpd1 C T 7: 105,203,693 (GRCm39) probably benign Het
Spata31e5 A T 1: 28,815,848 (GRCm39) M728K possibly damaging Het
Stard10 G A 7: 100,995,258 (GRCm39) D337N probably damaging Het
Tex14 A G 11: 87,375,545 (GRCm39) T103A probably damaging Het
Tle1 A G 4: 72,088,953 (GRCm39) S97P probably benign Het
Tnfrsf8 T A 4: 145,041,654 (GRCm39) M1L unknown Het
Traf3ip2 T C 10: 39,502,173 (GRCm39) L107P possibly damaging Het
Trpc7 A T 13: 56,937,579 (GRCm39) S626T possibly damaging Het
Ubl7 T A 9: 57,837,039 (GRCm39) I350N probably damaging Het
Ubr3 T A 2: 69,851,967 (GRCm39) I1878N probably damaging Het
Usp24 G T 4: 106,245,116 (GRCm39) probably null Het
Vcan A T 13: 89,837,229 (GRCm39) S2772T possibly damaging Het
Vmn2r79 T C 7: 86,686,851 (GRCm39) V744A probably damaging Het
Wbp2nl T C 15: 82,189,903 (GRCm39) S32P probably damaging Het
Wwc1 A G 11: 35,788,201 (GRCm39) probably null Het
Zfp629 C T 7: 127,211,463 (GRCm39) W115* probably null Het
Other mutations in Snx17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00771:Snx17 APN 5 31,354,679 (GRCm39) missense probably damaging 0.99
IGL01406:Snx17 APN 5 31,353,338 (GRCm39) missense probably damaging 1.00
IGL01955:Snx17 APN 5 31,354,426 (GRCm39) unclassified probably benign
IGL02724:Snx17 APN 5 31,354,390 (GRCm39) missense probably damaging 1.00
IGL03032:Snx17 APN 5 31,353,355 (GRCm39) missense probably benign 0.03
IGL03277:Snx17 APN 5 31,353,084 (GRCm39) unclassified probably benign
R0542:Snx17 UTSW 5 31,353,895 (GRCm39) critical splice donor site probably null
R1188:Snx17 UTSW 5 31,353,166 (GRCm39) missense probably benign 0.18
R4597:Snx17 UTSW 5 31,355,857 (GRCm39) unclassified probably benign
R4983:Snx17 UTSW 5 31,353,138 (GRCm39) missense possibly damaging 0.80
R7583:Snx17 UTSW 5 31,353,877 (GRCm39) missense possibly damaging 0.61
R7711:Snx17 UTSW 5 31,352,804 (GRCm39) missense probably damaging 0.97
R7712:Snx17 UTSW 5 31,352,804 (GRCm39) missense probably damaging 0.97
R8114:Snx17 UTSW 5 31,355,046 (GRCm39) missense probably benign 0.00
R8893:Snx17 UTSW 5 31,353,887 (GRCm39) missense probably damaging 1.00
R9120:Snx17 UTSW 5 31,355,026 (GRCm39) missense probably damaging 1.00
R9527:Snx17 UTSW 5 31,353,826 (GRCm39) missense probably damaging 1.00
R9562:Snx17 UTSW 5 31,355,088 (GRCm39) missense probably damaging 1.00
R9565:Snx17 UTSW 5 31,355,088 (GRCm39) missense probably damaging 1.00
Z1176:Snx17 UTSW 5 31,354,337 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGGGTTACGAGCTCTGAGC -3'
(R):5'- TGCACCAGCCTCAAGATGTG -3'

Sequencing Primer
(F):5'- GTCTTGTAACTAACCACACCTGG -3'
(R):5'- CCAGTCACAAAAGAAAGCCAGGTG -3'
Posted On 2019-06-26