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
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # IGL02699
Quality Score
Status
Chromosome 6
Chromosomal Location 134586170-134609451 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 134587317 bp (GRCm39)
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: 77,157,853 (GRCm39) D198G probably benign Het
Casq1 T C 1: 172,047,263 (GRCm39) probably benign Het
Cd109 T A 9: 78,579,271 (GRCm39) probably benign Het
Col15a1 T G 4: 47,284,471 (GRCm39) probably benign Het
Ctdp1 T C 18: 80,493,400 (GRCm39) D365G probably benign Het
Daam1 T C 12: 72,035,717 (GRCm39) F971L probably damaging Het
Dalrd3 T A 9: 108,448,088 (GRCm39) probably benign Het
Dnaaf5 T C 5: 139,139,105 (GRCm39) probably benign Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Fbxo8 A G 8: 57,043,223 (GRCm39) T236A possibly damaging Het
Ighv1-12 C A 12: 114,579,736 (GRCm39) E29* probably null Het
Il17re A G 6: 113,445,880 (GRCm39) D397G probably damaging Het
Ing5 A G 1: 93,744,164 (GRCm39) N157D possibly damaging Het
Ipo11 T C 13: 107,025,905 (GRCm39) E395G possibly damaging Het
Letm1 T C 5: 33,902,492 (GRCm39) E599G possibly damaging Het
Med1 T C 11: 98,070,851 (GRCm39) N131D possibly damaging Het
Or10ak13 G T 4: 118,639,349 (GRCm39) C144* probably null Het
Or13p3 T C 4: 118,567,395 (GRCm39) S264P probably benign Het
Or6c2b T G 10: 128,947,640 (GRCm39) Y218S probably benign Het
Or8k38 A T 2: 86,488,691 (GRCm39) I37N probably benign Het
Osm T C 11: 4,189,723 (GRCm39) V169A possibly damaging Het
Phkg2 C T 7: 127,181,722 (GRCm39) A278V probably benign Het
Plod2 T A 9: 92,489,195 (GRCm39) M709K probably damaging Het
Pzp A T 6: 128,464,364 (GRCm39) probably null Het
Ric1 T C 19: 29,499,957 (GRCm39) L12P possibly damaging Het
Skor1 C A 9: 63,047,328 (GRCm39) probably benign Het
Slc39a10 G A 1: 46,857,288 (GRCm39) A696V probably damaging Het
Syncrip A G 9: 88,338,607 (GRCm39) probably benign Het
Tex2 T C 11: 106,459,259 (GRCm39) E57G possibly damaging Het
Tmc1 C T 19: 20,809,714 (GRCm39) probably null Het
Tmem59 T C 4: 107,049,735 (GRCm39) M140T probably benign Het
Ttn T C 2: 76,774,433 (GRCm39) T2158A probably damaging Het
Other mutations in Mansc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00519:Mansc1 APN 6 134,587,769 (GRCm39) missense possibly damaging 0.88
IGL01141:Mansc1 APN 6 134,598,748 (GRCm39) missense probably benign 0.21
IGL01447:Mansc1 APN 6 134,594,289 (GRCm39) missense probably damaging 0.96
IGL01582:Mansc1 APN 6 134,598,836 (GRCm39) missense possibly damaging 0.95
IGL02121:Mansc1 APN 6 134,598,800 (GRCm39) missense probably damaging 1.00
IGL02214:Mansc1 APN 6 134,587,323 (GRCm39) missense probably benign 0.39
IGL02466:Mansc1 APN 6 134,587,814 (GRCm39) missense probably damaging 1.00
R0266:Mansc1 UTSW 6 134,587,670 (GRCm39) missense probably benign 0.08
R0730:Mansc1 UTSW 6 134,594,424 (GRCm39) splice site probably benign
R0849:Mansc1 UTSW 6 134,587,670 (GRCm39) missense probably benign 0.08
R2015:Mansc1 UTSW 6 134,587,274 (GRCm39) missense possibly damaging 0.77
R3874:Mansc1 UTSW 6 134,587,146 (GRCm39) missense possibly damaging 0.62
R4886:Mansc1 UTSW 6 134,587,625 (GRCm39) missense probably benign 0.01
R5864:Mansc1 UTSW 6 134,587,816 (GRCm39) critical splice acceptor site probably null
R5932:Mansc1 UTSW 6 134,587,478 (GRCm39) missense possibly damaging 0.69
R7233:Mansc1 UTSW 6 134,598,806 (GRCm39) missense probably damaging 0.98
R7576:Mansc1 UTSW 6 134,587,674 (GRCm39) missense possibly damaging 0.87
R7858:Mansc1 UTSW 6 134,587,377 (GRCm39) missense probably benign 0.23
R7981:Mansc1 UTSW 6 134,587,274 (GRCm39) missense possibly damaging 0.77
R8775:Mansc1 UTSW 6 134,587,631 (GRCm39) missense probably benign 0.10
R8775-TAIL:Mansc1 UTSW 6 134,587,631 (GRCm39) missense probably benign 0.10
R9130:Mansc1 UTSW 6 134,586,951 (GRCm39) missense probably damaging 1.00
R9761:Mansc1 UTSW 6 134,587,004 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16