Incidental Mutation 'R2914:Snx29'
ID 254819
Institutional Source Beutler Lab
Gene Symbol Snx29
Ensembl Gene ENSMUSG00000071669
Gene Name sorting nexin 29
Synonyms Rundc2a, Gm11170, LOC385605, LOC381035, 4933437K13Rik
MMRRC Submission 040501-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2914 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 11140772-11573336 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 11265317 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 516 (R516W)
Ref Sequence ENSEMBL: ENSMUSP00000138025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096273] [ENSMUST00000122168] [ENSMUST00000150993] [ENSMUST00000180792]
AlphaFold Q9D3S3
Predicted Effect probably damaging
Transcript: ENSMUST00000096273
AA Change: R174W

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000093993
Gene: ENSMUSG00000071669
AA Change: R174W

DomainStartEndE-ValueType
low complexity region 103 120 N/A INTRINSIC
coiled coil region 125 206 N/A INTRINSIC
PX 319 422 3.13e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000122168
AA Change: R159W

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113595
Gene: ENSMUSG00000071669
AA Change: R159W

DomainStartEndE-ValueType
low complexity region 88 105 N/A INTRINSIC
coiled coil region 110 191 N/A INTRINSIC
Blast:PX 301 326 1e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134941
Predicted Effect probably damaging
Transcript: ENSMUST00000150993
AA Change: R72W

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117896
Gene: ENSMUSG00000071669
AA Change: R72W

DomainStartEndE-ValueType
low complexity region 1 18 N/A INTRINSIC
coiled coil region 23 104 N/A INTRINSIC
Blast:PX 217 245 3e-8 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151478
Predicted Effect probably damaging
Transcript: ENSMUST00000180792
AA Change: R516W

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138025
Gene: ENSMUSG00000071669
AA Change: R516W

DomainStartEndE-ValueType
low complexity region 64 74 N/A INTRINSIC
RUN 115 178 7.89e-26 SMART
internal_repeat_1 192 211 2.63e-5 PROSPERO
internal_repeat_1 203 222 2.63e-5 PROSPERO
low complexity region 252 262 N/A INTRINSIC
low complexity region 270 275 N/A INTRINSIC
low complexity region 314 323 N/A INTRINSIC
low complexity region 445 462 N/A INTRINSIC
coiled coil region 467 548 N/A INTRINSIC
PX 661 764 3.13e-9 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (41/41)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf3 A G 5: 30,401,992 (GRCm39) S679P probably damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cryl1 T C 14: 57,513,375 (GRCm39) E282G probably benign Het
Dbn1 A G 13: 55,630,234 (GRCm39) F45L probably damaging Het
Dclre1b T C 3: 103,715,430 (GRCm39) M105V probably damaging Het
Defb12 T C 8: 19,164,830 (GRCm39) N3D probably benign Het
Eprs1 G A 1: 185,111,939 (GRCm39) probably null Het
Fa2h T C 8: 112,120,281 (GRCm39) D35G probably damaging Het
Fdxacb1 C T 9: 50,679,699 (GRCm39) A39V probably benign Het
Fras1 G A 5: 96,881,774 (GRCm39) R2502K probably benign Het
Grm1 A G 10: 10,955,601 (GRCm39) S228P probably benign Het
Il27ra T A 8: 84,758,242 (GRCm39) probably benign Het
Lrrtm1 A T 6: 77,221,962 (GRCm39) Q473L probably damaging Het
Macf1 T A 4: 123,369,704 (GRCm39) I121F probably damaging Het
Mael A T 1: 166,054,179 (GRCm39) F188I probably damaging Het
Mapk4 C T 18: 74,068,236 (GRCm39) A232T probably benign Het
Mrpl9 C A 3: 94,351,108 (GRCm39) T96K probably damaging Het
Musk C A 4: 58,366,938 (GRCm39) L511I probably damaging Het
Mutyh G A 4: 116,672,826 (GRCm39) D60N probably damaging Het
Nckap5 A T 1: 125,954,274 (GRCm39) probably null Het
Nktr T C 9: 121,578,670 (GRCm39) probably benign Het
Otud7b C A 3: 96,063,272 (GRCm39) A837E probably benign Het
Pigb A T 9: 72,947,060 (GRCm39) probably null Het
Pip4k2b G T 11: 97,613,260 (GRCm39) N245K probably benign Het
Ptprd T A 4: 75,865,338 (GRCm39) D1464V probably damaging Het
Rab22a A G 2: 173,537,074 (GRCm39) N98S probably benign Het
Rictor G T 15: 6,799,476 (GRCm39) probably null Het
Rims1 T C 1: 22,844,711 (GRCm39) E32G probably damaging Het
Slx4ip A G 2: 136,909,511 (GRCm39) probably null Het
Snx19 G A 9: 30,344,828 (GRCm39) probably benign Het
Tcof1 T C 18: 60,949,156 (GRCm39) D1253G possibly damaging Het
Tmod1 A T 4: 46,092,259 (GRCm39) N203I probably damaging Het
Tmprss15 T C 16: 78,759,078 (GRCm39) N880S probably benign Het
Ttn A T 2: 76,599,979 (GRCm39) I19065N probably damaging Het
Txk T C 5: 72,881,794 (GRCm39) N154S probably damaging Het
Utp20 A G 10: 88,590,337 (GRCm39) probably null Het
Vmn1r65 T A 7: 6,012,040 (GRCm39) I65F possibly damaging Het
Yes1 T C 5: 32,797,926 (GRCm39) S82P probably benign Het
Other mutations in Snx29
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00733:Snx29 APN 16 11,221,366 (GRCm39) missense probably damaging 0.97
IGL02207:Snx29 APN 16 11,556,216 (GRCm39) missense probably damaging 1.00
PIT1430001:Snx29 UTSW 16 11,221,488 (GRCm39) missense probably benign 0.00
PIT4810001:Snx29 UTSW 16 11,218,845 (GRCm39) missense probably damaging 1.00
R0240:Snx29 UTSW 16 11,478,417 (GRCm39) missense probably damaging 1.00
R0240:Snx29 UTSW 16 11,478,417 (GRCm39) missense probably damaging 1.00
R0276:Snx29 UTSW 16 11,556,237 (GRCm39) missense probably benign 0.01
R0506:Snx29 UTSW 16 11,213,167 (GRCm39) missense probably benign 0.15
R0621:Snx29 UTSW 16 11,223,651 (GRCm39) splice site probably null
R0975:Snx29 UTSW 16 11,165,735 (GRCm39) missense possibly damaging 0.66
R1225:Snx29 UTSW 16 11,238,550 (GRCm39) intron probably benign
R1406:Snx29 UTSW 16 11,217,657 (GRCm39) missense probably benign 0.38
R1406:Snx29 UTSW 16 11,217,657 (GRCm39) missense probably benign 0.38
R1452:Snx29 UTSW 16 11,449,335 (GRCm39) missense probably damaging 1.00
R1515:Snx29 UTSW 16 11,217,701 (GRCm39) critical splice donor site probably null
R1874:Snx29 UTSW 16 11,185,545 (GRCm39) missense probably benign 0.01
R1953:Snx29 UTSW 16 11,217,647 (GRCm39) nonsense probably null
R1978:Snx29 UTSW 16 11,185,588 (GRCm39) missense probably benign 0.23
R2054:Snx29 UTSW 16 11,449,356 (GRCm39) missense probably damaging 1.00
R2105:Snx29 UTSW 16 11,328,898 (GRCm39) missense possibly damaging 0.72
R2128:Snx29 UTSW 16 11,218,835 (GRCm39) missense probably damaging 0.98
R2152:Snx29 UTSW 16 11,218,707 (GRCm39) missense possibly damaging 0.95
R2912:Snx29 UTSW 16 11,265,317 (GRCm39) missense probably damaging 0.99
R2913:Snx29 UTSW 16 11,265,317 (GRCm39) missense probably damaging 0.99
R4468:Snx29 UTSW 16 11,238,565 (GRCm39) splice site probably null
R4469:Snx29 UTSW 16 11,238,565 (GRCm39) splice site probably null
R4612:Snx29 UTSW 16 11,265,359 (GRCm39) missense probably damaging 0.99
R4744:Snx29 UTSW 16 11,167,773 (GRCm39) nonsense probably null
R4798:Snx29 UTSW 16 11,238,600 (GRCm39) missense probably damaging 1.00
R5000:Snx29 UTSW 16 11,221,371 (GRCm39) missense probably damaging 0.99
R5165:Snx29 UTSW 16 11,238,639 (GRCm39) missense probably damaging 0.98
R5207:Snx29 UTSW 16 11,556,227 (GRCm39) missense probably damaging 1.00
R5235:Snx29 UTSW 16 11,231,110 (GRCm39) missense possibly damaging 0.94
R5274:Snx29 UTSW 16 11,556,268 (GRCm39) missense probably damaging 1.00
R5277:Snx29 UTSW 16 11,217,688 (GRCm39) missense possibly damaging 0.82
R5462:Snx29 UTSW 16 11,328,876 (GRCm39) missense possibly damaging 0.89
R5655:Snx29 UTSW 16 11,573,185 (GRCm39) missense probably damaging 1.00
R6036:Snx29 UTSW 16 11,556,301 (GRCm39) splice site probably null
R6036:Snx29 UTSW 16 11,556,301 (GRCm39) splice site probably null
R6326:Snx29 UTSW 16 11,221,430 (GRCm39) missense probably benign
R6576:Snx29 UTSW 16 11,532,920 (GRCm39) critical splice donor site probably null
R7406:Snx29 UTSW 16 11,573,180 (GRCm39) missense probably damaging 1.00
R7552:Snx29 UTSW 16 11,238,649 (GRCm39) critical splice donor site probably null
R7555:Snx29 UTSW 16 11,218,806 (GRCm39) missense probably benign 0.02
R7736:Snx29 UTSW 16 11,185,588 (GRCm39) missense probably benign 0.23
R7962:Snx29 UTSW 16 11,231,221 (GRCm39) critical splice donor site probably null
R8101:Snx29 UTSW 16 11,389,580 (GRCm39) missense probably benign 0.16
R8415:Snx29 UTSW 16 11,265,291 (GRCm39) missense probably damaging 1.00
R8549:Snx29 UTSW 16 11,532,920 (GRCm39) critical splice donor site probably null
R9010:Snx29 UTSW 16 11,449,391 (GRCm39) missense probably benign 0.00
R9091:Snx29 UTSW 16 11,213,155 (GRCm39) missense probably benign 0.33
R9099:Snx29 UTSW 16 11,478,435 (GRCm39) missense probably damaging 1.00
R9176:Snx29 UTSW 16 11,236,728 (GRCm39) missense probably benign
R9258:Snx29 UTSW 16 11,532,799 (GRCm39) missense possibly damaging 0.78
R9270:Snx29 UTSW 16 11,213,155 (GRCm39) missense probably benign 0.33
R9672:Snx29 UTSW 16 11,478,515 (GRCm39) missense probably benign 0.00
R9778:Snx29 UTSW 16 11,223,609 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- ATTGAGTTGGTGCAGAGCC -3'
(R):5'- CACAACTGTAGCTTCCTTTGG -3'

Sequencing Primer
(F):5'- CCTGTGGGCAGTGATGAGC -3'
(R):5'- GCTGGCACATGCTTGCAATC -3'
Posted On 2014-12-29