Incidental Mutation 'IGL02699:Mansc1'
ID 304067
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mansc1
Ensembl Gene ENSMUSG00000032718
Gene Name MANSC domain containing 1
Synonyms 9130403P13Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock # IGL02699
Quality Score
Status
Chromosome 6
Chromosomal Location 134609207-134632488 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 134610354 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 287 (T287A)
Ref Sequence ENSEMBL: ENSMUSP00000038346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047443]
AlphaFold Q9CR33
Predicted Effect probably benign
Transcript: ENSMUST00000047443
AA Change: T287A

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000038346
Gene: ENSMUSG00000032718
AA Change: T287A

DomainStartEndE-ValueType
MANEC 23 116 3.87e-44 SMART
low complexity region 219 231 N/A INTRINSIC
low complexity region 260 271 N/A INTRINSIC
transmembrane domain 370 392 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204630
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 T C 10: 77,322,019 D198G probably benign Het
Casq1 T C 1: 172,219,696 probably benign Het
Cd109 T A 9: 78,671,989 probably benign Het
Col15a1 T G 4: 47,284,471 probably benign Het
Ctdp1 T C 18: 80,450,185 D365G probably benign Het
Daam1 T C 12: 71,988,943 F971L probably damaging Het
Dalrd3 T A 9: 108,570,889 probably benign Het
Dnaaf5 T C 5: 139,153,350 probably benign Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fbxo8 A G 8: 56,590,188 T236A possibly damaging Het
Ighv1-12 C A 12: 114,616,116 E29* probably null Het
Il17re A G 6: 113,468,919 D397G probably damaging Het
Ing5 A G 1: 93,816,442 N157D possibly damaging Het
Ipo11 T C 13: 106,889,397 E395G possibly damaging Het
Letm1 T C 5: 33,745,148 E599G possibly damaging Het
Med1 T C 11: 98,180,025 N131D possibly damaging Het
Olfr1085 A T 2: 86,658,347 I37N probably benign Het
Olfr1337 G T 4: 118,782,152 C144* probably null Het
Olfr1341 T C 4: 118,710,198 S264P probably benign Het
Olfr769 T G 10: 129,111,771 Y218S probably benign Het
Osm T C 11: 4,239,723 V169A possibly damaging Het
Phkg2 C T 7: 127,582,550 A278V probably benign Het
Plod2 T A 9: 92,607,142 M709K probably damaging Het
Pzp A T 6: 128,487,401 probably null Het
Ric1 T C 19: 29,522,557 L12P possibly damaging Het
Skor1 C A 9: 63,140,046 probably benign Het
Slc39a10 G A 1: 46,818,128 A696V probably damaging Het
Syncrip A G 9: 88,456,554 probably benign Het
Tex2 T C 11: 106,568,433 E57G possibly damaging Het
Tmc1 C T 19: 20,832,350 probably null Het
Tmem59 T C 4: 107,192,538 M140T probably benign Het
Ttn T C 2: 76,944,089 T2158A probably damaging Het
Other mutations in Mansc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00519:Mansc1 APN 6 134610806 missense possibly damaging 0.88
IGL01141:Mansc1 APN 6 134621785 missense probably benign 0.21
IGL01447:Mansc1 APN 6 134617326 missense probably damaging 0.96
IGL01582:Mansc1 APN 6 134621873 missense possibly damaging 0.95
IGL02121:Mansc1 APN 6 134621837 missense probably damaging 1.00
IGL02214:Mansc1 APN 6 134610360 missense probably benign 0.39
IGL02466:Mansc1 APN 6 134610851 missense probably damaging 1.00
R0266:Mansc1 UTSW 6 134610707 missense probably benign 0.08
R0730:Mansc1 UTSW 6 134617461 splice site probably benign
R0849:Mansc1 UTSW 6 134610707 missense probably benign 0.08
R2015:Mansc1 UTSW 6 134610311 missense possibly damaging 0.77
R3874:Mansc1 UTSW 6 134610183 missense possibly damaging 0.62
R4886:Mansc1 UTSW 6 134610662 missense probably benign 0.01
R5864:Mansc1 UTSW 6 134610853 critical splice acceptor site probably null
R5932:Mansc1 UTSW 6 134610515 missense possibly damaging 0.69
R7233:Mansc1 UTSW 6 134621843 missense probably damaging 0.98
R7576:Mansc1 UTSW 6 134610711 missense possibly damaging 0.87
R7858:Mansc1 UTSW 6 134610414 missense probably benign 0.23
R7981:Mansc1 UTSW 6 134610311 missense possibly damaging 0.77
R8775:Mansc1 UTSW 6 134610668 missense probably benign 0.10
R8775-TAIL:Mansc1 UTSW 6 134610668 missense probably benign 0.10
R9130:Mansc1 UTSW 6 134609988 missense probably damaging 1.00
Posted On 2015-04-16