Incidental Mutation 'R1945:Sned1'
ID 216539
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 039963-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R1945 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 93163563-93228787 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93198960 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 457 (E457G)
Ref Sequence ENSEMBL: ENSMUSP00000050832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062202]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000062202
AA Change: E457G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000050832
Gene: ENSMUSG00000047793
AA Change: E457G

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A G 16: 4,653,549 (GRCm39) I33V unknown Het
Abca1 ACGTCTTCACCAGGTAATC AC 4: 53,061,509 (GRCm39) probably null Het
Amotl2 T C 9: 102,597,753 (GRCm39) S171P probably benign Het
Armh4 T A 14: 50,005,940 (GRCm39) E585V probably damaging Het
Atf6 A T 1: 170,682,710 (GRCm39) V34E probably benign Het
Atrip T A 9: 108,900,935 (GRCm39) I135F probably damaging Het
Bglap A G 3: 88,290,971 (GRCm39) Y87H probably damaging Het
Camk2n1 G A 4: 138,184,094 (GRCm39) V78I possibly damaging Het
Ccdc92b A G 11: 74,520,835 (GRCm39) I46V probably benign Het
Cdc14b T C 13: 64,367,704 (GRCm39) Y208C probably damaging Het
Cdc42bpb C T 12: 111,265,567 (GRCm39) R1455Q probably damaging Het
Cep170 C A 1: 176,621,100 (GRCm39) G26* probably null Het
Cfap46 A G 7: 139,259,819 (GRCm39) F217S probably damaging Het
Col11a2 A T 17: 34,278,142 (GRCm39) D691V probably damaging Het
Col7a1 G A 9: 108,789,078 (GRCm39) V798I unknown Het
Coq8b CGCA CGCAGCA 7: 26,933,405 (GRCm39) probably benign Het
Coq8b GCA GCAACA 7: 26,933,406 (GRCm39) probably benign Het
Dcaf5 T C 12: 80,385,468 (GRCm39) D886G probably benign Het
Ern1 A G 11: 106,312,776 (GRCm39) S202P probably damaging Het
Etaa1 A G 11: 17,897,233 (GRCm39) C295R probably damaging Het
Ghdc C T 11: 100,660,031 (GRCm39) A239T probably benign Het
Grik4 T C 9: 42,432,300 (GRCm39) D899G possibly damaging Het
Hacd2 C A 16: 34,922,354 (GRCm39) T181K possibly damaging Het
Havcr2 T C 11: 46,345,877 (GRCm39) L17P unknown Het
Herc3 T C 6: 58,864,424 (GRCm39) V686A probably damaging Het
Hyal3 T C 9: 107,462,671 (GRCm39) L235P probably damaging Het
Itgb4 C T 11: 115,884,279 (GRCm39) Q988* probably null Het
Itprid2 T C 2: 79,492,996 (GRCm39) V1181A probably benign Het
Krt32 T A 11: 99,975,670 (GRCm39) probably null Het
Krt33a T C 11: 99,903,535 (GRCm39) N199S probably benign Het
Lama1 T A 17: 68,052,848 (GRCm39) S394T probably benign Het
Lamp1 T C 8: 13,222,545 (GRCm39) V243A probably benign Het
Loxhd1 A G 18: 77,492,504 (GRCm39) Y1315C probably damaging Het
Macf1 A T 4: 123,384,453 (GRCm39) L1148* probably null Het
Mill2 A G 7: 18,575,419 (GRCm39) H42R probably benign Het
Myo15a T C 11: 60,392,909 (GRCm39) F2194L probably damaging Het
Myo15b A T 11: 115,769,224 (GRCm39) I1472F probably damaging Het
Nasp T C 4: 116,479,965 (GRCm39) S36G possibly damaging Het
Nav2 A G 7: 49,114,620 (GRCm39) Y868C probably damaging Het
Niban1 T C 1: 151,571,979 (GRCm39) I308T probably damaging Het
Nono T C X: 100,485,429 (GRCm39) probably null Het
Npc1l1 T A 11: 6,164,588 (GRCm39) I1154F possibly damaging Het
Npc1l1 C T 11: 6,175,199 (GRCm39) W592* probably null Het
Nsg2 T C 11: 32,005,068 (GRCm39) V90A probably damaging Het
Odf4 T C 11: 68,812,983 (GRCm39) N225S possibly damaging Het
Oosp2 C T 19: 11,626,959 (GRCm39) probably null Het
Or1j12 T C 2: 36,343,043 (GRCm39) W149R probably damaging Het
Or4c123 T C 2: 89,127,128 (GRCm39) Y162C probably damaging Het
Pcdhb4 A T 18: 37,441,921 (GRCm39) R410S probably damaging Het
Pde6c T A 19: 38,145,967 (GRCm39) D418E probably damaging Het
Pik3ap1 A T 19: 41,262,776 (GRCm39) S799T probably benign Het
Pitx2 A G 3: 129,012,185 (GRCm39) N198S probably damaging Het
Psmb3 T C 11: 97,601,981 (GRCm39) F117S probably benign Het
Ptprq A T 10: 107,418,249 (GRCm39) M1709K probably benign Het
Recql5 G A 11: 115,819,123 (GRCm39) R148* probably null Het
Reep3 A G 10: 66,871,678 (GRCm39) S97P probably damaging Het
Rnase12 T A 14: 51,294,463 (GRCm39) Q72L possibly damaging Het
Scd3 T C 19: 44,224,219 (GRCm39) Y151H probably benign Het
Scn10a A T 9: 119,520,520 (GRCm39) S127T possibly damaging Het
Scn7a A T 2: 66,506,324 (GRCm39) W1522R probably damaging Het
Senp7 A G 16: 55,944,309 (GRCm39) H211R probably damaging Het
Septin10 C T 10: 59,016,841 (GRCm39) probably null Het
Serpinb6d T C 13: 33,851,663 (GRCm39) V140A possibly damaging Het
Spag17 A C 3: 99,847,298 (GRCm39) M76L probably benign Het
Spata31e2 C A 1: 26,721,395 (GRCm39) V1262F probably benign Het
Spata31e3 C T 13: 50,399,527 (GRCm39) G933E probably damaging Het
Sspo A T 6: 48,466,707 (GRCm39) E105V possibly damaging Het
Stoml3 T A 3: 53,412,866 (GRCm39) D173E possibly damaging Het
Sun3 T C 11: 8,988,296 (GRCm39) I9V probably benign Het
Svil T C 18: 5,117,059 (GRCm39) W2165R probably damaging Het
Tbl2 T A 5: 135,186,454 (GRCm39) S184T possibly damaging Het
Tdrd7 A T 4: 45,965,474 (GRCm39) T31S probably benign Het
Tmeff1 A G 4: 48,614,960 (GRCm39) N139S possibly damaging Het
Trip13 T C 13: 74,076,043 (GRCm39) R199G probably damaging Het
Tshb G T 3: 102,684,831 (GRCm39) Y124* probably null Het
Ttn T C 2: 76,560,366 (GRCm39) E29345G probably damaging Het
Usp33 T A 3: 152,085,223 (GRCm39) S620T probably benign Het
Vipr1 G A 9: 121,497,540 (GRCm39) G353R probably damaging Het
Vipr1 G T 9: 121,497,541 (GRCm39) G353V probably damaging Het
Vps13c A T 9: 67,793,558 (GRCm39) D437V probably damaging Het
Ylpm1 T A 12: 85,062,192 (GRCm39) S240T probably damaging Het
Zfp772 A G 7: 7,206,629 (GRCm39) I354T probably benign Het
Zfp959 T A 17: 56,204,231 (GRCm39) Y86* probably null 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
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'- AGCTGTGGGAACTCACATGG -3'
(R):5'- TGGGTGAAAGAATGTGGCCC -3'

Sequencing Primer
(F):5'- GTGGGAACTCACATGGGGACC -3'
(R):5'- GTGAAAGAATGTGGCCCCCTTTTC -3'
Posted On 2014-08-01