Incidental Mutation 'R5932:Mansc1'
ID 461925
Institutional Source Beutler Lab
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 # R5932 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 134586170-134609451 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 134587478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 233 (R233L)
Ref Sequence ENSEMBL: ENSMUSP00000038346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047443]
AlphaFold Q9CR33
Predicted Effect possibly damaging
Transcript: ENSMUST00000047443
AA Change: R233L

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000038346
Gene: ENSMUSG00000032718
AA Change: R233L

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T A 19: 31,870,518 (GRCm39) S7T possibly damaging Het
Aatk C T 11: 119,912,359 (GRCm39) G29S probably damaging Het
Akap1 A G 11: 88,722,585 (GRCm39) L890P probably damaging Het
Akap13 T A 7: 75,259,932 (GRCm39) M49K probably damaging Het
Ankrd17 A T 5: 90,413,295 (GRCm39) N1206K probably damaging Het
Bbs7 G A 3: 36,636,847 (GRCm39) T480I probably benign Het
Bbs9 A G 9: 22,723,627 (GRCm39) E769G probably damaging Het
Bpgm T A 6: 34,464,860 (GRCm39) S192R probably damaging Het
Brinp1 C A 4: 68,711,178 (GRCm39) K343N probably benign Het
Cabyr T G 18: 12,887,407 (GRCm39) V185G probably damaging Het
Cadm1 C A 9: 47,710,749 (GRCm39) D217E probably damaging Het
Camk1g T A 1: 193,036,347 (GRCm39) E171V probably benign Het
Casz1 T A 4: 149,023,570 (GRCm39) M825K possibly damaging Het
Ccdc27 A G 4: 154,111,231 (GRCm39) V627A probably benign Het
Ccdc40 T G 11: 119,141,838 (GRCm39) I808R probably damaging Het
Cdh23 G A 10: 60,228,763 (GRCm39) R1140C probably damaging Het
Celsr1 A G 15: 85,916,905 (GRCm39) V356A probably damaging Het
Cep126 T A 9: 8,103,509 (GRCm39) D167V probably damaging Het
Chmp4b C T 2: 154,533,201 (GRCm39) T147I probably benign Het
Clstn3 A T 6: 124,415,291 (GRCm39) M728K probably benign Het
Col7a1 A T 9: 108,809,279 (GRCm39) E2618V unknown Het
Cplane1 T A 15: 8,274,079 (GRCm39) probably null Het
Crls1 T A 2: 132,706,087 (GRCm39) Y170* probably null Het
Dennd2b G A 7: 109,169,223 (GRCm39) T24M probably damaging Het
Epas1 T G 17: 87,135,074 (GRCm39) I569S possibly damaging Het
Fhl3 T C 4: 124,599,520 (GRCm39) Y32H probably damaging Het
Fibp G A 19: 5,514,453 (GRCm39) G333D probably benign Het
Frmd4a C T 2: 4,534,650 (GRCm39) T156I probably damaging Het
Gcn1 T C 5: 115,730,435 (GRCm39) L873P possibly damaging Het
Gpr141b C A 13: 19,913,646 (GRCm39) noncoding transcript Het
Hectd3 G A 4: 116,859,470 (GRCm39) R698H possibly damaging Het
Il17a T C 1: 20,803,977 (GRCm39) V124A probably damaging Het
Kif14 A T 1: 136,444,128 (GRCm39) E1373D probably benign Het
Klra4 C T 6: 130,030,016 (GRCm39) V190M possibly damaging Het
Kmt2a T C 9: 44,731,944 (GRCm39) probably benign Het
L3mbtl1 GGCCG GG 2: 162,809,256 (GRCm39) probably benign Het
Lamb2 T C 9: 108,357,810 (GRCm39) I111T probably damaging Het
Lrch3 A T 16: 32,796,106 (GRCm39) D204V probably damaging Het
Mkrn3 A G 7: 62,068,655 (GRCm39) C379R probably damaging Het
Ncoa3 T A 2: 165,912,045 (GRCm39) probably null Het
Neu3 A T 7: 99,462,525 (GRCm39) C399* probably null Het
Or10ad1 T G 15: 98,105,296 (GRCm39) *323S probably null Het
Or52e8 G A 7: 104,624,862 (GRCm39) T114M probably damaging Het
Pcare T C 17: 72,058,748 (GRCm39) R310G probably damaging Het
Pde5a T C 3: 122,634,693 (GRCm39) F713L probably benign Het
Pdk1 T A 2: 71,713,760 (GRCm39) probably null Het
Plin4 A G 17: 56,413,356 (GRCm39) V423A possibly damaging Het
Pstpip1 T A 9: 56,033,214 (GRCm39) Y249N probably damaging Het
Ptprf A T 4: 118,068,964 (GRCm39) C1673S probably benign Het
Pum1 A G 4: 130,457,677 (GRCm39) T230A probably benign Het
Qsox1 A T 1: 155,665,079 (GRCm39) D287E probably benign Het
Rad51ap2 A G 12: 11,508,387 (GRCm39) N770D probably damaging Het
Rtp3 T A 9: 110,815,760 (GRCm39) I202F probably benign Het
Slc26a4 C T 12: 31,585,248 (GRCm39) probably null Het
Spmip7 A G 11: 11,438,513 (GRCm39) probably benign Het
Sptbn1 C G 11: 30,086,136 (GRCm39) V1191L probably damaging Het
Tead2 T C 7: 44,882,323 (GRCm39) Y121H probably benign Het
Thsd7b T C 1: 129,358,575 (GRCm39) L3P probably benign Het
Trim24 T C 6: 37,934,010 (GRCm39) I651T probably damaging Het
Usp2 A G 9: 44,003,630 (GRCm39) I481V probably benign Het
Vps13d C A 4: 144,771,611 (GRCm39) V4056F possibly damaging Het
Yeats2 A G 16: 20,011,913 (GRCm39) E496G probably benign Het
Zap70 A G 1: 36,820,227 (GRCm39) K503E probably damaging Het
Zbtb46 A G 2: 181,053,713 (GRCm39) L333P probably benign Het
Zfc3h1 A T 10: 115,236,815 (GRCm39) T430S probably benign Het
Zfp618 C T 4: 63,036,803 (GRCm39) R368* probably null 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
IGL02699:Mansc1 APN 6 134,587,317 (GRCm39) missense probably benign 0.34
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
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
Predicted Primers PCR Primer
(F):5'- GCCTGAAAGGTGTTAGTCAAAGC -3'
(R):5'- TGTCTTGGAGTGACAGATCTTCTC -3'

Sequencing Primer
(F):5'- AAGCTGCCTGATGTGTAACC -3'
(R):5'- AGATCTTCTCTGAAGTCCACAGC -3'
Posted On 2017-02-28