Incidental Mutation 'R2145:Sned1'
ID 233685
Institutional Source Beutler Lab
Gene Symbol Sned1
Ensembl Gene ENSMUSG00000047793
Gene Name sushi, nidogen and EGF-like domains 1
Synonyms D430044C15Rik, 6720455I24Rik, Snep
MMRRC Submission 040148-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R2145 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 93163563-93228787 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 93199406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 495 (F495L)
Ref Sequence ENSEMBL: ENSMUSP00000050832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062202]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000062202
AA Change: F495L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000050832
Gene: ENSMUSG00000047793
AA Change: F495L

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
NIDO 103 260 2.98e-54 SMART
EGF 271 309 3.79e-6 SMART
EGF_CA 311 347 2.42e-13 SMART
EGF 352 385 1.02e-6 SMART
EGF_CA 387 423 1.91e-11 SMART
EGF 432 465 2.96e-8 SMART
EGF 471 500 6.02e0 SMART
EGF 544 577 3.54e-6 SMART
EGF 583 616 6.06e-5 SMART
EGF_CA 619 655 2.33e-6 SMART
EGF 660 693 1.77e-6 SMART
CCP 698 751 2.5e-11 SMART
EGF_CA 753 789 1.66e-11 SMART
EGF_CA 791 827 1.38e-8 SMART
EGF_CA 829 865 1.92e-7 SMART
EGF 870 903 2.35e-2 SMART
FN3 906 991 1.7e-4 SMART
FN3 1005 1084 1.38e-4 SMART
FN3 1104 1185 1.6e-9 SMART
EGF 1309 1342 6.16e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172289
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185062
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 97% (101/104)
Allele List at MGI
Other mutations in this stock
Total: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A G 7: 119,953,701 (GRCm39) N535S probably benign Het
Abcc6 A T 7: 45,648,165 (GRCm39) L717Q probably benign Het
Abraxas2 C A 7: 132,484,790 (GRCm39) Q278K probably benign Het
Acap2 A T 16: 30,924,342 (GRCm39) D637E probably benign Het
AI661453 A G 17: 47,777,023 (GRCm39) probably benign Het
Aoah A T 13: 21,024,266 (GRCm39) E74V probably damaging Het
Aoc1l1 A T 6: 48,953,629 (GRCm39) D518V probably damaging Het
Appl1 A G 14: 26,671,576 (GRCm39) L292S possibly damaging Het
Astl T A 2: 127,189,109 (GRCm39) V166E probably damaging Het
Bbs1 T G 19: 4,953,735 (GRCm39) K143Q possibly damaging Het
Bbx T C 16: 50,094,907 (GRCm39) probably benign Het
Birc6 A T 17: 74,967,408 (GRCm39) Q4103L possibly damaging Het
C1qtnf2 T G 11: 43,381,811 (GRCm39) F178V probably damaging Het
Camta2 A G 11: 70,562,401 (GRCm39) F999L probably benign Het
Cfap68 T C 9: 50,676,174 (GRCm39) Y32C probably damaging Het
Clcn7 A G 17: 25,363,425 (GRCm39) I34V probably benign Het
Cntn5 G T 9: 9,748,420 (GRCm39) P487Q probably damaging Het
Ctu2 T A 8: 123,205,891 (GRCm39) I213K probably benign Het
Des C A 1: 75,340,108 (GRCm39) probably benign Het
Dgcr8 A T 16: 18,098,094 (GRCm39) D432E probably benign Het
Dlgap5 G A 14: 47,633,380 (GRCm39) R549* probably null Het
Dmac2l A G 12: 69,787,828 (GRCm39) Q88R probably damaging Het
Dmxl2 T C 9: 54,323,194 (GRCm39) T1397A probably damaging Het
Dnmt1 T A 9: 20,848,451 (GRCm39) probably benign Het
Dstyk T A 1: 132,391,113 (GRCm39) M838K probably damaging Het
Dtwd1 C A 2: 126,001,904 (GRCm39) T208N probably damaging Het
Dvl1 G A 4: 155,932,273 (GRCm39) V28I possibly damaging Het
Dync1i2 T A 2: 71,044,907 (GRCm39) probably benign Het
Fer1l6 T A 15: 58,499,383 (GRCm39) M1251K probably benign Het
Fmod T C 1: 133,968,256 (GRCm39) Y99H probably benign Het
Fn1 A T 1: 71,645,163 (GRCm39) V1552D probably damaging Het
Fnip2 A T 3: 79,407,739 (GRCm39) S281T probably damaging Het
Glb1 A G 9: 114,293,233 (GRCm39) H536R probably benign Het
Glis2 T A 16: 4,431,506 (GRCm39) S344R possibly damaging Het
Gm4847 A T 1: 166,462,472 (GRCm39) S339R probably benign Het
Gpr155 A G 2: 73,187,002 (GRCm39) S44P probably benign Het
Gprin1 G A 13: 54,886,445 (GRCm39) P610S probably damaging Het
Gvin3 T A 7: 106,202,215 (GRCm39) H343L possibly damaging Het
H2-Ob A T 17: 34,461,554 (GRCm39) M98L probably benign Het
H3c6 T C 13: 23,746,530 (GRCm39) T4A probably benign Het
Hmcn2 T C 2: 31,223,943 (GRCm39) probably benign Het
Ikbke C A 1: 131,201,211 (GRCm39) V176L probably damaging Het
Il13 T C 11: 53,523,351 (GRCm39) T85A possibly damaging Het
Inpp5k A T 11: 75,538,017 (GRCm39) probably null Het
Irgm2 T C 11: 58,111,355 (GRCm39) S361P possibly damaging Het
Itga11 C T 9: 62,639,486 (GRCm39) probably benign Het
Kalrn G T 16: 33,829,632 (GRCm39) probably benign Het
Kcng1 C A 2: 168,110,952 (GRCm39) G71C probably damaging Het
Kcnq5 T A 1: 21,575,573 (GRCm39) D291V probably damaging Het
Klhl7 A T 5: 24,305,861 (GRCm39) M37L probably benign Het
Letm1 A AG 5: 33,926,859 (GRCm39) probably null Het
Lhx6 C T 2: 35,977,478 (GRCm39) V325I probably benign Het
Lipc A G 9: 70,841,817 (GRCm39) I9T possibly damaging Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Mast1 C A 8: 85,648,107 (GRCm39) G458V probably damaging Het
Mga T C 2: 119,794,638 (GRCm39) V2565A possibly damaging Het
Mpzl2 C G 9: 44,955,471 (GRCm39) D127E probably benign Het
Mrtfb T C 16: 13,230,450 (GRCm39) I1045T probably damaging Het
Myh3 T A 11: 66,981,882 (GRCm39) C793S probably benign Het
Nomo1 T C 7: 45,715,928 (GRCm39) L765P probably damaging Het
Nup210 A G 6: 91,005,858 (GRCm39) I1335T possibly damaging Het
Or52b3 T C 7: 102,204,267 (GRCm39) probably null Het
Oxr1 T A 15: 41,683,340 (GRCm39) S254R probably damaging Het
Pan3 A G 5: 147,466,908 (GRCm39) I592V possibly damaging Het
Pask C T 1: 93,249,019 (GRCm39) A794T probably benign Het
Pex2 T C 3: 5,626,650 (GRCm39) E53G probably damaging Het
Pfkfb2 T C 1: 130,626,460 (GRCm39) T438A probably benign Het
Phactr4 T C 4: 132,098,095 (GRCm39) E391G probably damaging Het
Pira2 A T 7: 3,847,344 (GRCm39) L115Q probably damaging Het
Pkhd1l1 A T 15: 44,376,273 (GRCm39) probably null Het
Pnlip A G 19: 58,664,876 (GRCm39) S235G probably benign Het
Prkd1 A G 12: 50,536,694 (GRCm39) V130A possibly damaging Het
Ptpn13 A G 5: 103,703,999 (GRCm39) T1344A probably benign Het
Ptprc T C 1: 138,001,419 (GRCm39) Y780C probably damaging Het
Pxn T A 5: 115,690,815 (GRCm39) probably benign Het
Rap1gap2 G A 11: 74,316,802 (GRCm39) T245M probably damaging Het
Rc3h1 G T 1: 160,757,827 (GRCm39) K48N probably damaging Het
Rfwd3 T C 8: 112,009,245 (GRCm39) I444V probably benign Het
Rictor C T 15: 6,794,588 (GRCm39) R293C probably damaging Het
Rif1 T A 2: 52,001,412 (GRCm39) I1622N possibly damaging Het
Rnf213 T C 11: 119,306,019 (GRCm39) V609A probably benign Het
Scgb1b2 G T 7: 30,991,188 (GRCm39) probably benign Het
Serac1 A T 17: 6,101,060 (GRCm39) I448N probably damaging Het
Sh3kbp1 C A X: 158,607,492 (GRCm39) T200K probably benign Het
Socs7 T C 11: 97,263,950 (GRCm39) F281L probably benign Het
Spta1 C T 1: 174,040,180 (GRCm39) L1214F probably benign Het
Ssu72 A G 4: 155,789,900 (GRCm39) E21G probably damaging Het
Syngr4 A G 7: 45,536,464 (GRCm39) V186A probably benign Het
Tars3 G A 7: 65,305,539 (GRCm39) M254I possibly damaging Het
Tmem130 C A 5: 144,680,595 (GRCm39) V270L probably benign Het
Trim66 A T 7: 109,074,320 (GRCm39) I647N probably damaging Het
Tspyl2 A T X: 151,121,890 (GRCm39) D572E probably benign Het
Unc45b G A 11: 82,808,580 (GRCm39) R222H probably benign Het
Uxs1 T C 1: 43,866,783 (GRCm39) Y29C probably damaging Het
Virma T A 4: 11,548,726 (GRCm39) probably benign Het
Vmn1r202 C T 13: 22,685,953 (GRCm39) G155S possibly damaging Het
Vmn2r24 T A 6: 123,755,972 (GRCm39) F15I probably benign Het
Wdr64 A G 1: 175,594,661 (GRCm39) T471A probably benign Het
Zfa-ps T A 10: 52,419,373 (GRCm39) noncoding transcript Het
Zfp260 A G 7: 29,804,765 (GRCm39) K222E probably damaging Het
Zfp300 A G X: 20,948,190 (GRCm39) S525P possibly damaging Het
Zfp821 A G 8: 110,450,979 (GRCm39) D324G probably damaging Het
Zfp934 T C 13: 62,665,648 (GRCm39) D331G probably damaging Het
Zscan29 T C 2: 121,000,587 (GRCm39) R7G probably damaging Het
Other mutations in Sned1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00785:Sned1 APN 1 93,201,891 (GRCm39) splice site probably benign
IGL00955:Sned1 APN 1 93,202,125 (GRCm39) missense probably damaging 1.00
IGL01367:Sned1 APN 1 93,210,936 (GRCm39) missense probably benign 0.32
IGL02116:Sned1 APN 1 93,209,447 (GRCm39) nonsense probably null
IGL02195:Sned1 APN 1 93,201,882 (GRCm39) missense probably benign 0.03
IGL02390:Sned1 APN 1 93,189,386 (GRCm39) missense probably benign
IGL02423:Sned1 APN 1 93,211,322 (GRCm39) missense probably benign
IGL02451:Sned1 APN 1 93,163,930 (GRCm39) splice site probably benign
IGL02567:Sned1 APN 1 93,202,069 (GRCm39) missense probably damaging 0.96
IGL03184:Sned1 APN 1 93,202,390 (GRCm39) missense probably benign 0.01
IGL03328:Sned1 APN 1 93,217,089 (GRCm39) missense probably benign
Bulger UTSW 1 93,199,385 (GRCm39) nonsense probably null
farina UTSW 1 93,209,374 (GRCm39) missense probably damaging 1.00
Millet UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
triticale UTSW 1 93,281,654 (GRCm39) missense
R0257:Sned1 UTSW 1 93,192,819 (GRCm39) missense possibly damaging 0.75
R0372:Sned1 UTSW 1 93,213,673 (GRCm39) splice site probably benign
R0525:Sned1 UTSW 1 93,199,696 (GRCm39) splice site probably null
R0727:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R0759:Sned1 UTSW 1 93,200,286 (GRCm39) missense probably damaging 1.00
R0965:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R0968:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R0969:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1006:Sned1 UTSW 1 93,184,114 (GRCm39) missense probably damaging 1.00
R1068:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1069:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1070:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1112:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1113:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1114:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1115:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1118:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1119:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1144:Sned1 UTSW 1 93,208,298 (GRCm39) missense probably damaging 0.98
R1228:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1230:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1231:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1313:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1313:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1340:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1382:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1383:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1394:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1395:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1397:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1414:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1430:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1432:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1473:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1503:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1563:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1565:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1689:Sned1 UTSW 1 93,211,094 (GRCm39) missense probably damaging 0.99
R1695:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1734:Sned1 UTSW 1 93,187,490 (GRCm39) missense probably damaging 1.00
R1764:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1767:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1896:Sned1 UTSW 1 93,192,769 (GRCm39) missense probably benign 0.16
R1916:Sned1 UTSW 1 93,201,884 (GRCm39) missense probably null 1.00
R1945:Sned1 UTSW 1 93,198,960 (GRCm39) missense probably benign 0.01
R1972:Sned1 UTSW 1 93,192,795 (GRCm39) missense probably damaging 1.00
R1973:Sned1 UTSW 1 93,192,795 (GRCm39) missense probably damaging 1.00
R2143:Sned1 UTSW 1 93,199,406 (GRCm39) missense probably damaging 1.00
R2144:Sned1 UTSW 1 93,199,406 (GRCm39) missense probably damaging 1.00
R2153:Sned1 UTSW 1 93,202,379 (GRCm39) missense probably benign 0.01
R2273:Sned1 UTSW 1 93,209,364 (GRCm39) splice site probably null
R2274:Sned1 UTSW 1 93,209,364 (GRCm39) splice site probably null
R2275:Sned1 UTSW 1 93,209,364 (GRCm39) splice site probably null
R2340:Sned1 UTSW 1 93,184,174 (GRCm39) missense probably damaging 0.98
R3237:Sned1 UTSW 1 93,186,725 (GRCm39) missense probably benign 0.21
R3747:Sned1 UTSW 1 93,189,473 (GRCm39) missense probably damaging 1.00
R3879:Sned1 UTSW 1 93,192,752 (GRCm39) splice site probably benign
R4281:Sned1 UTSW 1 93,213,577 (GRCm39) nonsense probably null
R4282:Sned1 UTSW 1 93,213,577 (GRCm39) nonsense probably null
R4356:Sned1 UTSW 1 93,193,113 (GRCm39) splice site probably null
R4358:Sned1 UTSW 1 93,202,381 (GRCm39) missense probably benign 0.01
R4677:Sned1 UTSW 1 93,224,019 (GRCm39) unclassified probably benign
R5291:Sned1 UTSW 1 93,223,446 (GRCm39) missense possibly damaging 0.80
R5340:Sned1 UTSW 1 93,210,479 (GRCm39) missense probably benign 0.09
R5542:Sned1 UTSW 1 93,199,324 (GRCm39) missense probably benign
R5582:Sned1 UTSW 1 93,210,083 (GRCm39) missense probably damaging 1.00
R5874:Sned1 UTSW 1 93,193,067 (GRCm39) missense probably damaging 1.00
R6159:Sned1 UTSW 1 93,210,659 (GRCm39) missense probably benign 0.00
R6175:Sned1 UTSW 1 93,203,196 (GRCm39) splice site probably null
R6445:Sned1 UTSW 1 93,211,318 (GRCm39) missense possibly damaging 0.89
R6631:Sned1 UTSW 1 93,209,374 (GRCm39) missense probably damaging 1.00
R7018:Sned1 UTSW 1 93,212,143 (GRCm39) missense probably damaging 1.00
R7035:Sned1 UTSW 1 93,189,852 (GRCm39) missense probably damaging 1.00
R7047:Sned1 UTSW 1 93,213,540 (GRCm39) missense possibly damaging 0.51
R7347:Sned1 UTSW 1 93,209,458 (GRCm39) missense probably damaging 1.00
R7427:Sned1 UTSW 1 93,217,080 (GRCm39) missense probably benign 0.11
R7581:Sned1 UTSW 1 93,184,267 (GRCm39) missense probably benign 0.00
R7679:Sned1 UTSW 1 93,163,760 (GRCm39) missense unknown
R7899:Sned1 UTSW 1 93,201,804 (GRCm39) missense probably benign 0.04
R8093:Sned1 UTSW 1 93,202,387 (GRCm39) missense possibly damaging 0.82
R8124:Sned1 UTSW 1 93,210,711 (GRCm39) critical splice donor site probably null
R8489:Sned1 UTSW 1 93,210,978 (GRCm39) nonsense probably null
R9012:Sned1 UTSW 1 93,212,320 (GRCm39) missense probably damaging 0.99
R9290:Sned1 UTSW 1 93,199,385 (GRCm39) nonsense probably null
R9560:Sned1 UTSW 1 93,202,110 (GRCm39) missense probably damaging 1.00
R9775:Sned1 UTSW 1 93,199,604 (GRCm39) missense probably damaging 0.99
X0025:Sned1 UTSW 1 93,189,409 (GRCm39) missense probably damaging 1.00
Z1176:Sned1 UTSW 1 93,186,764 (GRCm39) missense probably damaging 1.00
Z1177:Sned1 UTSW 1 93,213,542 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- CAGGGTTGACCAGGGTTAGG -3'
(R):5'- GTAGCCTCCATCTGGACACTG -3'

Sequencing Primer
(F):5'- GAAAAGGGGGCCACATTCTTTCAC -3'
(R):5'- ACACTGCGTGTTCATGTTGCAG -3'
Posted On 2014-10-01