Incidental Mutation 'R0849:Mansc1'
ID77064
Institutional Source Beutler Lab
Gene Symbol Mansc1
Ensembl Gene ENSMUSG00000032718
Gene NameMANSC domain containing 1
Synonyms9130403P13Rik
MMRRC Submission 039028-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #R0849 (G1)
Quality Score225
Status Not validated
Chromosome6
Chromosomal Location134609207-134632488 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 134610707 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 169 (D169G)
Ref Sequence ENSEMBL: ENSMUSP00000038346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047443]
Predicted Effect probably benign
Transcript: ENSMUST00000047443
AA Change: D169G

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000038346
Gene: ENSMUSG00000032718
AA Change: D169G

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
Meta Mutation Damage Score 0.4095 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.5%
  • 20x: 92.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1300017J02Rik A C 9: 103,263,057 Y488D possibly damaging Het
Arhgap5 T C 12: 52,519,623 F1126L probably benign Het
Arhgef11 G T 3: 87,735,896 A1472S probably benign Het
Armc9 G A 1: 86,257,270 R681K probably benign Het
Atxn2 T A 5: 121,747,421 probably null Het
B3gnt6 C A 7: 98,194,743 L3F probably benign Het
Cand2 A G 6: 115,792,391 T721A probably damaging Het
Cntn2 A T 1: 132,522,386 M590K probably benign Het
Cntn4 A T 6: 106,667,457 D622V probably damaging Het
Des T G 1: 75,360,628 S71A probably benign Het
Dnah5 C A 15: 28,263,599 R827S probably damaging Het
Dstn G A 2: 143,938,535 G52S probably benign Het
Eln T A 5: 134,707,981 R704* probably null Het
Fezf2 T A 14: 12,342,607 K419N probably damaging Het
Gm2381 G A 7: 42,819,948 Q251* probably null Het
Gm9268 A G 7: 43,024,718 Y400C probably damaging Het
Grin3a G A 4: 49,665,501 R1045* probably null Het
Herc2 T A 7: 56,206,578 H3921Q probably damaging Het
Hs3st2 A G 7: 121,501,032 E367G possibly damaging Het
Hydin G A 8: 110,598,984 R4675H probably damaging Het
Irf2bp1 T C 7: 19,004,734 S100P possibly damaging Het
Itga10 A G 3: 96,652,530 I500M possibly damaging Het
Kcnt2 T C 1: 140,507,762 V496A probably damaging Het
Mdn1 T A 4: 32,741,835 S3869T probably damaging Het
Mrgprb4 G A 7: 48,199,120 T20I probably benign Het
Nek4 A G 14: 30,957,296 E198G probably damaging Het
Olfr1120 G T 2: 87,358,265 V274L probably benign Het
Olfr1131 C A 2: 87,629,282 T273K possibly damaging Het
Olfr1380 G A 11: 49,564,302 C127Y probably damaging Het
Ppfia4 A T 1: 134,319,372 F537I probably benign Het
Rarb A G 14: 16,434,293 V295A probably damaging Het
Ryr1 A G 7: 29,040,679 S3941P probably damaging Het
Scnn1b A G 7: 121,912,475 N370S probably damaging Het
Stard9 C A 2: 120,673,636 S221R probably damaging Het
Sv2c C T 13: 95,989,811 G311D probably damaging Het
Tas2r109 T C 6: 132,980,893 I25V probably benign Het
Tbcel A C 9: 42,437,157 I305S probably damaging Het
Tmem35b A G 4: 127,126,197 probably null Het
Tmem38b T C 4: 53,840,765 L60S probably damaging Het
Tmtc4 A G 14: 122,945,554 I244T possibly damaging Het
Usp9y C A Y: 1,394,002 C576F probably damaging Het
Vcan A T 13: 89,704,953 N629K possibly damaging Het
Vmn2r22 T C 6: 123,637,404 Y409C 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
IGL02699:Mansc1 APN 6 134610354 missense probably benign 0.34
R0266:Mansc1 UTSW 6 134610707 missense probably benign 0.08
R0730:Mansc1 UTSW 6 134617461 splice site probably benign
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
Predicted Primers PCR Primer
(F):5'- AGAGCCTCCTTGAAAGGGCATTG -3'
(R):5'- AGGTATCGAGTCTGGGGACATAGC -3'

Sequencing Primer
(F):5'- AAGCTGCCTGATGTGTAACC -3'
(R):5'- CAGCGCTAATTCATCACTCC -3'
Posted On2013-10-16