Incidental Mutation 'IGL02423:Sned1'
ID292777
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sned1
Ensembl Gene ENSMUSG00000047793
Gene Namesushi, nidogen and EGF-like domains 1
Synonyms6720455I24Rik, D430044C15Rik, Snep
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.089) question?
Stock #IGL02423
Quality Score
Status
Chromosome1
Chromosomal Location93235841-93301065 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 93283600 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 1074 (T1074A)
Ref Sequence ENSEMBL: ENSMUSP00000050832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062202]
Predicted Effect probably benign
Transcript: ENSMUST00000062202
AA Change: T1074A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000050832
Gene: ENSMUSG00000047793
AA Change: T1074A

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: T283A
SMART Domains Protein: ENSMUSP00000132455
Gene: ENSMUSG00000047793
AA Change: T283A

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: ENSMUST00000168122
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172289
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Abca6 A G 11: 110,219,006 probably benign Het
Adarb2 A T 13: 8,569,720 R81W probably damaging Het
Adgrf4 T C 17: 42,672,576 I72V probably benign Het
Banp A G 8: 122,007,091 I360V probably benign Het
Bmp8a C A 4: 123,316,427 G289C possibly damaging Het
Car3 A T 3: 14,866,851 H94L probably damaging Het
Ccdc137 G A 11: 120,460,101 R108H possibly damaging Het
Cdk14 T C 5: 4,888,905 N411S probably benign Het
Col4a2 A G 8: 11,433,800 M907V probably benign Het
Cyp4f17 T A 17: 32,506,949 W19R possibly damaging Het
Dmxl2 A G 9: 54,393,748 S2360P possibly damaging Het
Eif2d T G 1: 131,153,360 probably benign Het
Epx A G 11: 87,871,318 I369T possibly damaging Het
Fcgbp A G 7: 28,089,953 E648G probably benign Het
Fer1l4 G A 2: 156,052,907 P14L probably benign Het
Folr1 A G 7: 101,858,525 F236S probably benign Het
Foxj2 T G 6: 122,842,773 M540R possibly damaging Het
Gm14025 T C 2: 129,048,048 E42G probably benign Het
Gtf2h1 A G 7: 46,815,400 T420A probably benign Het
H2-T3 T A 17: 36,187,356 T222S probably damaging Het
Ice1 A T 13: 70,592,599 M2163K probably damaging Het
Inppl1 A G 7: 101,832,243 V244A probably benign Het
Kansl3 A T 1: 36,351,969 V373D probably damaging Het
Kdm3a A G 6: 71,614,003 probably benign Het
Krtap1-3 A T 11: 99,590,854 C156S unknown Het
Mab21l3 T C 3: 101,818,729 D317G probably damaging Het
Nox3 T C 17: 3,682,916 H240R probably damaging Het
Nxn A T 11: 76,274,032 S218T probably benign Het
Olfr190 A T 16: 59,074,267 I271K probably benign Het
Olfr781 G A 10: 129,333,528 V216I probably benign Het
Pcdhb13 T C 18: 37,444,339 V590A possibly damaging Het
Pim3 T C 15: 88,863,531 V200A probably benign Het
Plekha3 T C 2: 76,680,180 F20L probably damaging Het
Pmp22 G T 11: 63,158,292 R120S possibly damaging Het
Ppp1r9a A C 6: 4,906,537 D364A probably benign Het
Psd A G 19: 46,314,504 F155L possibly damaging Het
Rbm22 T C 18: 60,571,819 probably benign Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Ryr2 A T 13: 11,745,198 F1556I probably damaging Het
Scap G A 9: 110,378,617 A465T probably benign Het
Sdf2 A G 11: 78,251,018 S60G probably damaging Het
Sema3a T C 5: 13,565,809 I400T probably damaging Het
Ski T C 4: 155,159,734 D478G probably damaging Het
Slc12a7 A T 13: 73,763,763 probably benign Het
Slc9a3r1 A G 11: 115,163,713 probably null Het
Srebf2 A G 15: 82,175,097 T239A probably damaging Het
Stk4 C T 2: 164,086,499 H84Y probably benign Het
Syne1 G T 10: 5,368,295 Q444K probably benign Het
Tecpr1 T A 5: 144,203,487 I817F possibly damaging Het
Tep1 G T 14: 50,844,620 Q1159K possibly damaging Het
Tmem39b G A 4: 129,678,649 H387Y probably damaging Het
Tpp1 T C 7: 105,749,700 H174R probably damaging Het
Ttn C T 2: 76,705,273 V35134I probably benign Het
Usp34 A G 11: 23,354,900 I378V probably benign Het
Vmn2r1 T A 3: 64,090,244 H440Q probably benign Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Zcchc7 T A 4: 44,931,244 D144E possibly damaging Het
Zic4 C A 9: 91,384,175 H284N probably damaging Het
Zkscan6 A G 11: 65,828,294 H380R probably benign Het
Other mutations in Sned1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00785:Sned1 APN 1 93274169 splice site probably benign
IGL00955:Sned1 APN 1 93274403 missense probably damaging 1.00
IGL01367:Sned1 APN 1 93283214 missense probably benign 0.32
IGL02116:Sned1 APN 1 93281725 nonsense probably null
IGL02195:Sned1 APN 1 93274160 missense probably benign 0.03
IGL02390:Sned1 APN 1 93261664 missense probably benign
IGL02451:Sned1 APN 1 93236208 splice site probably benign
IGL02567:Sned1 APN 1 93274347 missense probably damaging 0.96
IGL03184:Sned1 APN 1 93274668 missense probably benign 0.01
IGL03328:Sned1 APN 1 93289367 missense probably benign
R0257:Sned1 UTSW 1 93265097 missense possibly damaging 0.75
R0372:Sned1 UTSW 1 93285951 splice site probably benign
R0525:Sned1 UTSW 1 93271974 splice site probably null
R0727:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R0759:Sned1 UTSW 1 93272564 missense probably damaging 1.00
R0965:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R0968:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R0969:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R1006:Sned1 UTSW 1 93256392 missense probably damaging 1.00
R1068:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R1069:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R1070:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R1112:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R1113:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R1114:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R1115:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R1118:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R1119:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R1144:Sned1 UTSW 1 93280576 missense probably damaging 0.98
R1228:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R1230:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R1231:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R1313:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R1313:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R1340:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R1382:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R1383:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R1394:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R1395:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R1397:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R1414:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R1430:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R1432:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R1473:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R1503:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R1563:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R1565:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R1689:Sned1 UTSW 1 93283372 missense probably damaging 0.99
R1695:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R1734:Sned1 UTSW 1 93259768 missense probably damaging 1.00
R1764:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R1767:Sned1 UTSW 1 93281654 missense possibly damaging 0.89
R1896:Sned1 UTSW 1 93265047 missense probably benign 0.16
R1916:Sned1 UTSW 1 93274162 missense probably null 1.00
R1945:Sned1 UTSW 1 93271238 missense probably benign 0.01
R1972:Sned1 UTSW 1 93265073 missense probably damaging 1.00
R1973:Sned1 UTSW 1 93265073 missense probably damaging 1.00
R2143:Sned1 UTSW 1 93271684 missense probably damaging 1.00
R2144:Sned1 UTSW 1 93271684 missense probably damaging 1.00
R2145:Sned1 UTSW 1 93271684 missense probably damaging 1.00
R2153:Sned1 UTSW 1 93274657 missense probably benign 0.01
R2273:Sned1 UTSW 1 93281642 splice site probably null
R2274:Sned1 UTSW 1 93281642 splice site probably null
R2275:Sned1 UTSW 1 93281642 splice site probably null
R2340:Sned1 UTSW 1 93256452 missense probably damaging 0.98
R3237:Sned1 UTSW 1 93259003 missense probably benign 0.21
R3747:Sned1 UTSW 1 93261751 missense probably damaging 1.00
R3879:Sned1 UTSW 1 93265030 splice site probably benign
R4281:Sned1 UTSW 1 93285855 nonsense probably null
R4282:Sned1 UTSW 1 93285855 nonsense probably null
R4356:Sned1 UTSW 1 93265391 splice site probably null
R4358:Sned1 UTSW 1 93274659 missense probably benign 0.01
R4677:Sned1 UTSW 1 93296297 unclassified probably benign
R5291:Sned1 UTSW 1 93295724 missense possibly damaging 0.80
R5340:Sned1 UTSW 1 93282757 missense probably benign 0.09
R5542:Sned1 UTSW 1 93271602 missense probably benign
R5582:Sned1 UTSW 1 93282361 missense probably damaging 1.00
R5874:Sned1 UTSW 1 93265345 missense probably damaging 1.00
R6159:Sned1 UTSW 1 93282937 missense probably benign 0.00
R6175:Sned1 UTSW 1 93275474 splice site probably null
R6445:Sned1 UTSW 1 93283596 missense possibly damaging 0.89
R6631:Sned1 UTSW 1 93281652 missense probably damaging 1.00
R7018:Sned1 UTSW 1 93284421 missense probably damaging 1.00
R7035:Sned1 UTSW 1 93262130 missense probably damaging 1.00
R7047:Sned1 UTSW 1 93285818 missense possibly damaging 0.51
R7347:Sned1 UTSW 1 93281736 missense probably damaging 1.00
R7427:Sned1 UTSW 1 93289358 missense probably benign 0.11
R7581:Sned1 UTSW 1 93256545 missense probably benign 0.00
R7679:Sned1 UTSW 1 93236038 missense unknown
R7899:Sned1 UTSW 1 93274082 missense probably benign 0.04
R7982:Sned1 UTSW 1 93274082 missense probably benign 0.04
X0025:Sned1 UTSW 1 93261687 missense probably damaging 1.00
Z1176:Sned1 UTSW 1 93259042 missense probably damaging 1.00
Z1177:Sned1 UTSW 1 93285820 missense probably damaging 0.96
Posted On2015-04-16