Incidental Mutation 'R1764:Sned1'
ID 193242
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 039796-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R1764 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 93163563-93228787 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 93209376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 830 (V830M)
Ref Sequence ENSEMBL: ENSMUSP00000050832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062202]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000062202
AA Change: V830M

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000050832
Gene: ENSMUSG00000047793
AA Change: V830M

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 unknown
Transcript: ENSMUST00000163688
AA Change: V39M
SMART Domains Protein: ENSMUSP00000132455
Gene: ENSMUSG00000047793
AA Change: V39M

DomainStartEndE-ValueType
EGF_CA 1 37 6.7e-7 SMART
EGF_CA 39 75 1.92e-7 SMART
EGF 80 113 2.35e-2 SMART
FN3 116 201 1.7e-4 SMART
FN3 215 294 1.38e-4 SMART
FN3 314 395 1.6e-9 SMART
EGF 487 520 6.16e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172289
Meta Mutation Damage Score 0.1152 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 92.2%
Validation Efficiency 94% (94/100)
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A G 5: 109,884,655 (GRCm39) V401A probably benign Het
Abca7 G T 10: 79,844,784 (GRCm39) W1502L probably damaging Het
Adcy7 A G 8: 89,035,468 (GRCm39) E124G probably benign Het
Aif1l G A 2: 31,855,118 (GRCm39) E66K probably benign Het
Aldh8a1 A T 10: 21,271,392 (GRCm39) M373L probably benign Het
Alg6 T C 4: 99,629,815 (GRCm39) Y131H probably benign Het
Arhgef6 T C X: 56,383,922 (GRCm39) M5V probably benign Het
Arrdc4 A T 7: 68,391,622 (GRCm39) I215K probably damaging Het
Asb4 A G 6: 5,390,798 (GRCm39) probably null Het
Astn1 T C 1: 158,331,821 (GRCm39) I305T probably benign Het
Atp5f1b T A 10: 127,919,949 (GRCm39) probably benign Het
Atp8a1 C A 5: 67,788,910 (GRCm39) M1044I probably benign Het
Atp9b C T 18: 80,952,806 (GRCm39) probably null Het
Brd10 T A 19: 29,696,560 (GRCm39) T978S possibly damaging Het
Btaf1 A G 19: 36,928,518 (GRCm39) H113R probably benign Het
C87436 G T 6: 86,430,594 (GRCm39) C338F possibly damaging Het
Casz1 T C 4: 149,027,357 (GRCm39) probably benign Het
Cbr3 T A 16: 93,487,370 (GRCm39) H184Q probably damaging Het
Cct8l1 T C 5: 25,722,097 (GRCm39) S271P possibly damaging Het
Cdc34 A G 10: 79,521,174 (GRCm39) K77R probably benign Het
Cdc34 G T 10: 79,521,172 (GRCm39) probably null Het
Cdh20 A G 1: 104,862,070 (GRCm39) probably benign Het
Celsr3 A G 9: 108,706,157 (GRCm39) E880G probably damaging Het
Cers1 T G 8: 70,774,141 (GRCm39) probably null Het
Cntn5 T C 9: 9,673,988 (GRCm39) I705V probably benign Het
Dennd4c T A 4: 86,721,247 (GRCm39) D636E probably damaging Het
Dnah11 T C 12: 118,154,560 (GRCm39) E240G probably benign Het
Dnah2 T C 11: 69,314,369 (GRCm39) Y4100C probably damaging Het
Dpysl3 T C 18: 43,496,583 (GRCm39) E151G probably damaging Het
Efcab9 T G 11: 32,474,457 (GRCm39) T9P possibly damaging Het
Eif4g2 A T 7: 110,673,694 (GRCm39) F725Y probably damaging Het
Epha6 T A 16: 59,596,091 (GRCm39) I867F probably null Het
Erbin T C 13: 103,979,959 (GRCm39) probably benign Het
Evi5l A G 8: 4,253,560 (GRCm39) E468G probably damaging Het
Filip1l C T 16: 57,390,401 (GRCm39) R330W probably damaging Het
Fmo3 C T 1: 162,786,142 (GRCm39) V283M possibly damaging Het
Gabarapl1 A T 6: 129,510,481 (GRCm39) K24N possibly damaging Het
Gigyf1 C T 5: 137,520,770 (GRCm39) probably benign Het
Gm5581 T A 6: 131,158,362 (GRCm39) noncoding transcript Het
Gon4l G T 3: 88,799,906 (GRCm39) K850N probably damaging Het
Igf2bp3 C T 6: 49,085,980 (GRCm39) R233H probably damaging Het
Iqcf4 G A 9: 106,445,893 (GRCm39) R85C probably benign Het
Kalrn C T 16: 34,033,243 (GRCm39) R473Q probably damaging Het
Lmod2 T A 6: 24,603,376 (GRCm39) V117E probably damaging Het
Mapk11 A G 15: 89,028,594 (GRCm39) probably null Het
Mcm3 G A 1: 20,876,103 (GRCm39) R664C probably damaging Het
Mex3d A G 10: 80,222,770 (GRCm39) M162T probably benign Het
Mrgprb3 A G 7: 48,292,771 (GRCm39) I260T probably benign Het
Ncor2 G T 5: 125,105,679 (GRCm39) A1637D possibly damaging Het
Nedd4 T A 9: 72,638,189 (GRCm39) D441E probably damaging Het
Nek5 A T 8: 22,599,928 (GRCm39) C194S probably damaging Het
Nos1ap T C 1: 170,146,447 (GRCm39) D369G possibly damaging Het
Ntrk1 G T 3: 87,687,391 (GRCm39) T681K probably damaging Het
Or13a24 T C 7: 140,154,383 (GRCm39) W106R probably damaging Het
Or4f14 A G 2: 111,742,526 (GRCm39) F250L possibly damaging Het
Otogl C T 10: 107,735,322 (GRCm39) W154* probably null Het
Pcdh20 T C 14: 88,706,620 (GRCm39) T227A possibly damaging Het
Pcdhb17 T C 18: 37,620,324 (GRCm39) S705P probably damaging Het
Piezo2 T C 18: 63,257,713 (GRCm39) H335R possibly damaging Het
Pkn2 T C 3: 142,499,615 (GRCm39) Q954R probably damaging Het
Pramel23 C A 4: 143,424,840 (GRCm39) C201F probably benign Het
Prkcq G A 2: 11,237,442 (GRCm39) V74M probably damaging Het
Prkrip1 A T 5: 136,218,489 (GRCm39) probably null Het
Pttg1ip2 A T 5: 5,528,943 (GRCm39) I24N possibly damaging Het
Rb1cc1 A G 1: 6,284,904 (GRCm39) probably benign Het
Rbm5 A T 9: 107,644,763 (GRCm39) Y11* probably null Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Ryr3 C A 2: 112,690,805 (GRCm39) V1082L probably damaging Het
Scart2 A G 7: 139,877,178 (GRCm39) E831G probably benign Het
Sel1l3 C A 5: 53,327,789 (GRCm39) E497* probably null Het
Serpina6 A T 12: 103,620,182 (GRCm39) I189N probably damaging Het
Serpinb11 A T 1: 107,304,532 (GRCm39) T166S probably benign Het
Skint7 T C 4: 111,839,270 (GRCm39) L188S probably benign Het
Slc25a45 C T 19: 5,934,958 (GRCm39) A269V probably damaging Het
Sltm A G 9: 70,469,082 (GRCm39) T114A probably benign Het
Spen C A 4: 141,200,261 (GRCm39) V2766L probably damaging Het
Srgap2 T A 1: 131,247,275 (GRCm39) I445F possibly damaging Het
Stox2 A T 8: 47,647,051 (GRCm39) Y200* probably null Het
Strada C A 11: 106,055,010 (GRCm39) R384L probably damaging Het
Tctn2 G A 5: 124,757,094 (GRCm39) noncoding transcript Het
Tgfbr3l G T 8: 4,299,282 (GRCm39) R461L probably benign Het
Tmem65 A G 15: 58,661,998 (GRCm39) probably benign Het
Tpst1 G T 5: 130,143,343 (GRCm39) V294F possibly damaging Het
Trim23 A G 13: 104,335,126 (GRCm39) Y384C probably damaging Het
Ube3b C G 5: 114,542,678 (GRCm39) L512V possibly damaging Het
Ubxn4 T A 1: 128,183,916 (GRCm39) V92E probably damaging Het
Vmn2r57 A T 7: 41,050,067 (GRCm39) C561S probably damaging Het
Vwa8 A G 14: 79,145,635 (GRCm39) D104G probably damaging Het
Wdr25 T A 12: 108,992,364 (GRCm39) L73* probably null Het
Wnt9a G A 11: 59,221,728 (GRCm39) A209T probably benign Het
Zcchc17 A C 4: 130,223,388 (GRCm39) C133G probably damaging Het
Zdhhc18 T A 4: 133,335,987 (GRCm39) M375L probably benign Het
Zfhx3 T C 8: 109,678,276 (GRCm39) F3109L probably benign Het
Zfp202 T A 9: 40,121,762 (GRCm39) D286E probably benign Het
Zzef1 T C 11: 72,784,158 (GRCm39) L2021P probably benign 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
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
R2145: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'- CCATCCTCTTGCTGGACAAGCTAC -3'
(R):5'- TCCTGAAAAGCCTGACCAAGTGTG -3'

Sequencing Primer
(F):5'- TTGCTGGACAAGCTACTCAGAG -3'
(R):5'- GCCTATCCAGGGACAACAGAG -3'
Posted On 2014-05-23