Incidental Mutation 'R6175:Sned1'
ID 501827
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 044317-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R6175 (G1)
Quality Score 219.009
Status Validated
Chromosome 1
Chromosomal Location 93163563-93228787 bp(+) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) A to G at 93203196 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000050832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062202]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000062202
SMART Domains Protein: ENSMUSP00000050832
Gene: ENSMUSG00000047793

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.2%
Validation Efficiency 97% (85/88)
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,902,448 (GRCm39) K623E probably damaging Het
A530064D06Rik T A 17: 48,460,016 (GRCm39) S227C possibly damaging Het
Adam30 A T 3: 98,070,266 (GRCm39) I700F probably damaging Het
Adam5 A T 8: 25,276,167 (GRCm39) M500K probably benign Het
Adgb A T 10: 10,274,687 (GRCm39) S755T possibly damaging Het
Adgrv1 C T 13: 81,534,124 (GRCm39) G5819D probably damaging Het
Ank3 T A 10: 69,763,557 (GRCm39) Y17N probably damaging Het
Ano2 A T 6: 125,969,918 (GRCm39) M745L probably benign Het
Arap2 A G 5: 62,872,074 (GRCm39) probably null Het
Atg2a A T 19: 6,291,759 (GRCm39) probably benign Het
AU021092 G T 16: 5,038,312 (GRCm39) probably null Het
Bbs1 A T 19: 4,940,749 (GRCm39) L578Q probably damaging Het
Brd9 A T 13: 74,108,433 (GRCm39) E589D probably damaging Het
Calr4 A G 4: 109,101,442 (GRCm39) D108G probably benign Het
Ccdc82 A G 9: 13,272,798 (GRCm39) D429G probably damaging Het
Cdh22 G T 2: 164,988,550 (GRCm39) N268K probably damaging Het
Ceacam12 G A 7: 17,801,312 (GRCm39) G97D probably damaging Het
Clcn1 A G 6: 42,291,096 (GRCm39) D990G probably damaging Het
Cyp2c40 T C 19: 39,801,004 (GRCm39) T84A probably benign Het
Dnah7a G A 1: 53,472,181 (GRCm39) P3529S probably damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Efna3 GAGCAGCAGCAGCAGCAGCAGC GAGCAGCAGCAGCAGCAGC 3: 89,230,105 (GRCm39) probably benign Het
Ehd2 G A 7: 15,697,389 (GRCm39) Q4* probably null Het
Eml5 A G 12: 98,760,715 (GRCm39) V1726A possibly damaging Het
Esam A G 9: 37,439,544 (GRCm39) T10A probably benign Het
Fbxl6 A G 15: 76,422,633 (GRCm39) L95P probably benign Het
Fbxw18 T A 9: 109,505,947 (GRCm39) L441F probably damaging Het
Fbxw4 A G 19: 45,624,766 (GRCm39) S73P probably benign Het
Fndc1 T A 17: 7,991,479 (GRCm39) H739L unknown Het
Foxp1 G A 6: 98,943,037 (GRCm39) T237I probably damaging Het
Greb1 A T 12: 16,724,771 (GRCm39) I1801N probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hoxa13 G T 6: 52,236,908 (GRCm39) N281K probably damaging Het
Hspg2 A G 4: 137,296,829 (GRCm39) T4328A probably damaging Het
Htr2a C G 14: 74,882,474 (GRCm39) Y153* probably null Het
Iglv1 C A 16: 18,903,844 (GRCm39) A92S probably damaging Het
Itih1 A G 14: 30,653,152 (GRCm39) S759P probably damaging Het
Kctd1 G T 18: 15,102,688 (GRCm39) S831* probably null Het
Kif20a T A 18: 34,761,199 (GRCm39) S265T probably damaging Het
Kif22 T A 7: 126,630,228 (GRCm39) E436V possibly damaging Het
Kif27 A G 13: 58,459,051 (GRCm39) W927R probably damaging Het
Lcorl G A 5: 45,933,832 (GRCm39) P66L probably damaging Het
Lct A G 1: 128,255,451 (GRCm39) L197P probably damaging Het
Lefty1 T C 1: 180,762,714 (GRCm39) S14P unknown Het
Lnp1 A G 16: 56,737,855 (GRCm39) S78P possibly damaging Het
Map3k19 A T 1: 127,750,569 (GRCm39) H927Q probably benign Het
Meiosin C A 7: 18,834,814 (GRCm39) probably benign Het
Mta3 A G 17: 84,099,222 (GRCm39) T430A probably benign Het
Muc2 G T 7: 141,282,875 (GRCm39) C627F probably damaging Het
Myh13 A G 11: 67,245,588 (GRCm39) D1076G probably benign Het
Nck2 T A 1: 43,572,729 (GRCm39) M1K probably null Het
Nipal1 A G 5: 72,820,898 (GRCm39) N131S probably damaging Het
Nlrp9c T C 7: 26,077,426 (GRCm39) probably null Het
Nr2f2 A G 7: 70,007,946 (GRCm39) S179P probably damaging Het
Or1j16 A G 2: 36,530,063 (GRCm39) D4G probably benign Het
Or1j21 A T 2: 36,683,980 (GRCm39) H244L probably damaging Het
Or9g19 A T 2: 85,600,652 (GRCm39) N169I probably benign Het
Oxt G T 2: 130,418,163 (GRCm39) probably benign Het
Pank2 T A 2: 131,122,181 (GRCm39) Y235* probably null Het
Pear1 A G 3: 87,659,440 (GRCm39) L798P possibly damaging Het
Pex14 T C 4: 149,046,156 (GRCm39) H258R probably benign Het
Pmpcb A G 5: 21,962,031 (GRCm39) I487V probably benign Het
Ppie T C 4: 123,031,362 (GRCm39) E44G probably benign Het
Ppp1r9a A T 6: 4,905,639 (GRCm39) R65* probably null Het
Ralgapb T C 2: 158,288,075 (GRCm39) S371P probably damaging Het
Ros1 T C 10: 51,977,881 (GRCm39) H1455R probably benign Het
Sacs C A 14: 61,450,275 (GRCm39) T4107K possibly damaging Het
Sec24a G A 11: 51,622,718 (GRCm39) T386M probably damaging Het
Slc10a4 A T 5: 73,169,593 (GRCm39) Y207F possibly damaging Het
Slc30a10 T C 1: 185,187,508 (GRCm39) L83P probably damaging Het
Slc38a9 T A 13: 112,840,093 (GRCm39) L324* probably null Het
Slc7a9 A T 7: 35,165,277 (GRCm39) Q474L probably damaging Het
Smc5 C A 19: 23,191,534 (GRCm39) V875L possibly damaging Het
Snap91 T C 9: 86,707,053 (GRCm39) R246G probably damaging Het
Spink14 G A 18: 44,164,938 (GRCm39) G85E probably benign Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
St13 A G 15: 81,283,506 (GRCm39) probably null Het
Stk10 A G 11: 32,553,761 (GRCm39) M593V possibly damaging Het
Tafa1 A G 6: 96,092,721 (GRCm39) H35R probably benign Het
Tex21 C A 12: 76,245,707 (GRCm39) A530S probably benign Het
Tln2 T A 9: 67,131,363 (GRCm39) K1394N probably damaging Het
Trhr2 C A 8: 123,084,118 (GRCm39) R294L probably damaging Het
Unc79 A T 12: 103,149,708 (GRCm39) I2408F probably damaging Het
Wdr24 T C 17: 26,045,552 (GRCm39) L429P probably damaging Het
Wwp2 T A 8: 108,210,039 (GRCm39) I139N possibly damaging Het
Zfp111 G A 7: 23,897,554 (GRCm39) R686C unknown Het
Zfp268 A T 4: 145,350,811 (GRCm39) probably benign Het
Zyg11a A G 4: 108,046,878 (GRCm39) V532A 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
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
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
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'- ACCAAGTGGACCTCCTGATG -3'
(R):5'- TTGCTCTGAGGACGAAAGC -3'

Sequencing Primer
(F):5'- GACCTCCTGATGCTGGTG -3'
(R):5'- AGGACGAAAGCCCTGCCTAG -3'
Posted On 2017-12-04