Incidental Mutation 'R1915:Man1c1'
ID 214758
Institutional Source Beutler Lab
Gene Symbol Man1c1
Ensembl Gene ENSMUSG00000037306
Gene Name mannosidase, alpha, class 1C, member 1
Synonyms
MMRRC Submission 039933-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R1915 (G1)
Quality Score 194
Status Validated
Chromosome 4
Chromosomal Location 134289001-134431601 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 134430749 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Arginine at position 11 (P11R)
Ref Sequence ENSEMBL: ENSMUSP00000050979 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038628] [ENSMUST00000054096]
AlphaFold Q6NXK9
Predicted Effect probably damaging
Transcript: ENSMUST00000038628
AA Change: P11R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037949
Gene: ENSMUSG00000037306
AA Change: P11R

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
low complexity region 80 91 N/A INTRINSIC
Pfam:Glyco_hydro_47 176 612 9.9e-147 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000054096
AA Change: P11R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000050979
Gene: ENSMUSG00000037306
AA Change: P11R

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
low complexity region 80 91 N/A INTRINSIC
Pfam:Glyco_hydro_47 176 612 1.1e-147 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176606
Meta Mutation Damage Score 0.3035 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.4%
Validation Efficiency 100% (85/85)
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,103,036 (GRCm39) R852G probably benign Het
Adam2 C A 14: 66,275,006 (GRCm39) V576F possibly damaging Het
Afmid T C 11: 117,726,625 (GRCm39) F250L possibly damaging Het
Apc2 A T 10: 80,151,701 (GRCm39) I2252L probably benign Het
Bcar1 A G 8: 112,442,030 (GRCm39) V270A probably damaging Het
Btnl7-ps T A 17: 34,760,619 (GRCm39) noncoding transcript Het
Cdkn2aip T C 8: 48,164,961 (GRCm39) T251A probably benign Het
Cdx1 A G 18: 61,152,970 (GRCm39) V212A probably benign Het
Cep95 C T 11: 106,705,464 (GRCm39) T483I probably damaging Het
Cfap100 T C 6: 90,389,329 (GRCm39) probably benign Het
Cfap54 A G 10: 92,720,564 (GRCm39) V2630A unknown Het
Chia1 T A 3: 106,035,875 (GRCm39) N238K probably benign Het
Cldn23 T A 8: 36,293,099 (GRCm39) I130F possibly damaging Het
Cntrl T C 2: 35,052,873 (GRCm39) M1126T probably benign Het
Col28a1 A G 6: 8,176,333 (GRCm39) F8S probably benign Het
Cpeb3 C T 19: 37,031,665 (GRCm39) R579Q probably damaging Het
Creld2 G A 15: 88,704,834 (GRCm39) W103* probably null Het
Dbh A G 2: 27,058,234 (GRCm39) D134G probably damaging Het
Dcbld1 G T 10: 52,193,131 (GRCm39) C292F probably damaging Het
Dlgap5 T C 14: 47,645,230 (GRCm39) K304E probably benign Het
Dnajc2 A G 5: 21,986,317 (GRCm39) probably null Het
Eps8l2 G A 7: 140,941,765 (GRCm39) V650M probably damaging Het
Erlin1 T C 19: 44,047,504 (GRCm39) Y139C probably damaging Het
Exoc3 A G 13: 74,321,413 (GRCm39) probably null Het
F5 C A 1: 164,010,486 (GRCm39) R406S probably damaging Het
Fahd1 A T 17: 25,068,622 (GRCm39) W152R possibly damaging Het
Farp2 T A 1: 93,456,424 (GRCm39) S36T probably benign Het
Foxs1 A G 2: 152,774,760 (GRCm39) C98R probably damaging Het
Gal3st4 T A 5: 138,263,672 (GRCm39) K442N probably benign Het
Gm10644 G A 8: 84,660,479 (GRCm39) probably benign Het
Gm8674 A T 13: 50,054,889 (GRCm39) noncoding transcript Het
Gpr88 G T 3: 116,046,073 (GRCm39) S79R possibly damaging Het
Heatr9 T G 11: 83,409,035 (GRCm39) I171L possibly damaging Het
Hectd4 A G 5: 121,460,357 (GRCm39) T2209A probably benign Het
Hsh2d A G 8: 72,947,365 (GRCm39) T21A probably damaging Het
Irf4 A T 13: 30,945,445 (GRCm39) Q397L probably benign Het
Itgae T A 11: 73,009,469 (GRCm39) probably benign Het
Jrkl A T 9: 13,245,609 (GRCm39) D17E possibly damaging Het
Kcna4 T C 2: 107,127,123 (GRCm39) V619A probably benign Het
Kcnh6 T A 11: 105,908,270 (GRCm39) Y295* probably null Het
Kif1b G A 4: 149,351,673 (GRCm39) T263I probably damaging Het
Large2 G T 2: 92,196,170 (GRCm39) probably benign Het
Lcp1 T A 14: 75,436,737 (GRCm39) Y28N possibly damaging Het
Mccc2 T C 13: 100,085,038 (GRCm39) probably null Het
Mlh3 T C 12: 85,308,442 (GRCm39) Y1115C probably benign Het
Mlst8 C T 17: 24,696,264 (GRCm39) W155* probably null Het
Myh10 T C 11: 68,681,034 (GRCm39) L1025P probably damaging Het
Myof T A 19: 37,966,141 (GRCm39) N393I probably damaging Het
Nalcn C T 14: 123,540,181 (GRCm39) V1140I probably benign Het
Ncald C T 15: 37,397,324 (GRCm39) A119T probably benign Het
Nipbl T C 15: 8,373,114 (GRCm39) E1044G possibly damaging Het
Nup58 T C 14: 60,475,980 (GRCm39) K279R probably benign Het
Oas1a A T 5: 121,043,876 (GRCm39) N85K possibly damaging Het
Or11g1 C T 14: 50,651,798 (GRCm39) P266S probably damaging Het
Or8b12i T C 9: 20,082,324 (GRCm39) Y181C probably benign Het
Or8k30 A G 2: 86,339,343 (GRCm39) D180G probably damaging Het
Pou2f2 C T 7: 24,799,581 (GRCm39) A92T possibly damaging Het
Ppp1r16a T C 15: 76,577,268 (GRCm39) L212P probably damaging Het
Pram1 A T 17: 33,860,131 (GRCm39) I233F probably benign Het
Ptbp3 A T 4: 59,517,635 (GRCm39) L84Q probably damaging Het
Ptgr2 A T 12: 84,349,096 (GRCm39) Q145L probably benign Het
Ptpn23 A T 9: 110,215,575 (GRCm39) D1396E probably damaging Het
Pudp T C 18: 50,701,278 (GRCm39) N152D probably benign Het
Rbm20 T A 19: 53,852,518 (GRCm39) L1166Q probably damaging Het
Rictor T G 15: 6,789,053 (GRCm39) I223R probably damaging Het
Ripor1 A T 8: 106,343,518 (GRCm39) E270D probably damaging Het
Rorc T C 3: 94,298,480 (GRCm39) C322R probably damaging Het
Rpgrip1l T C 8: 91,959,552 (GRCm39) D1116G probably benign Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Sptan1 C G 2: 29,901,048 (GRCm39) Q1425E probably benign Het
Srd5a3 G A 5: 76,295,552 (GRCm39) V81I probably benign Het
Stk36 T A 1: 74,673,346 (GRCm39) S1080T probably benign Het
Sugp2 T A 8: 70,706,310 (GRCm39) I790K probably damaging Het
Syde2 T G 3: 145,720,071 (GRCm39) Y764* probably null Het
Tmem130 A G 5: 144,674,666 (GRCm39) F353S probably damaging Het
Tmem131 T A 1: 36,835,347 (GRCm39) K1591N probably damaging Het
Urb2 C A 8: 124,756,537 (GRCm39) T748K possibly damaging Het
Uri1 A T 7: 37,661,103 (GRCm39) I480K probably damaging Het
Zcchc3 A C 2: 152,255,601 (GRCm39) V366G probably benign Het
Zfp292 G A 4: 34,805,100 (GRCm39) S2648F possibly damaging Het
Zfp54 T C 17: 21,654,414 (GRCm39) Y303H probably benign Het
Zfp729b A G 13: 67,741,339 (GRCm39) F319L probably damaging Het
Zfp934 G A 13: 62,665,769 (GRCm39) H291Y probably damaging Het
Other mutations in Man1c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Man1c1 APN 4 134,291,843 (GRCm39) missense probably damaging 1.00
IGL02237:Man1c1 APN 4 134,311,609 (GRCm39) critical splice donor site probably null
R0201:Man1c1 UTSW 4 134,367,709 (GRCm39) splice site probably null
R0390:Man1c1 UTSW 4 134,305,626 (GRCm39) missense probably damaging 1.00
R0526:Man1c1 UTSW 4 134,296,379 (GRCm39) nonsense probably null
R1108:Man1c1 UTSW 4 134,291,924 (GRCm39) missense probably damaging 1.00
R1518:Man1c1 UTSW 4 134,308,100 (GRCm39) missense probably benign 0.01
R1756:Man1c1 UTSW 4 134,430,749 (GRCm39) missense probably damaging 1.00
R1866:Man1c1 UTSW 4 134,430,749 (GRCm39) missense probably damaging 1.00
R1914:Man1c1 UTSW 4 134,430,749 (GRCm39) missense probably damaging 1.00
R2171:Man1c1 UTSW 4 134,430,749 (GRCm39) missense probably damaging 1.00
R2172:Man1c1 UTSW 4 134,430,749 (GRCm39) missense probably damaging 1.00
R2937:Man1c1 UTSW 4 134,430,263 (GRCm39) missense possibly damaging 0.72
R2938:Man1c1 UTSW 4 134,430,263 (GRCm39) missense possibly damaging 0.72
R2971:Man1c1 UTSW 4 134,430,749 (GRCm39) missense probably damaging 1.00
R3806:Man1c1 UTSW 4 134,430,662 (GRCm39) missense probably damaging 1.00
R3977:Man1c1 UTSW 4 134,430,749 (GRCm39) missense probably damaging 1.00
R3979:Man1c1 UTSW 4 134,430,749 (GRCm39) missense probably damaging 1.00
R4037:Man1c1 UTSW 4 134,320,650 (GRCm39) missense probably damaging 1.00
R4065:Man1c1 UTSW 4 134,430,749 (GRCm39) missense probably damaging 1.00
R4066:Man1c1 UTSW 4 134,430,749 (GRCm39) missense probably damaging 1.00
R4067:Man1c1 UTSW 4 134,430,749 (GRCm39) missense probably damaging 1.00
R4209:Man1c1 UTSW 4 134,430,749 (GRCm39) missense probably damaging 1.00
R4210:Man1c1 UTSW 4 134,430,749 (GRCm39) missense probably damaging 1.00
R4211:Man1c1 UTSW 4 134,430,749 (GRCm39) missense probably damaging 1.00
R4290:Man1c1 UTSW 4 134,291,096 (GRCm39) missense probably damaging 1.00
R4431:Man1c1 UTSW 4 134,430,329 (GRCm39) missense probably damaging 1.00
R4694:Man1c1 UTSW 4 134,430,500 (GRCm39) missense probably benign 0.27
R4766:Man1c1 UTSW 4 134,430,749 (GRCm39) missense probably damaging 1.00
R5226:Man1c1 UTSW 4 134,305,680 (GRCm39) missense probably damaging 1.00
R5637:Man1c1 UTSW 4 134,318,735 (GRCm39) missense probably damaging 1.00
R5677:Man1c1 UTSW 4 134,296,371 (GRCm39) missense probably damaging 1.00
R5939:Man1c1 UTSW 4 134,293,147 (GRCm39) missense probably damaging 0.99
R7251:Man1c1 UTSW 4 134,308,147 (GRCm39) missense probably damaging 1.00
R7577:Man1c1 UTSW 4 134,291,814 (GRCm39) critical splice donor site probably null
R8551:Man1c1 UTSW 4 134,430,326 (GRCm39) nonsense probably null
R8745:Man1c1 UTSW 4 134,303,295 (GRCm39) missense probably damaging 0.96
R9116:Man1c1 UTSW 4 134,311,705 (GRCm39) missense possibly damaging 0.91
R9272:Man1c1 UTSW 4 134,291,118 (GRCm39) missense probably damaging 1.00
R9406:Man1c1 UTSW 4 134,303,318 (GRCm39) missense probably damaging 1.00
X0019:Man1c1 UTSW 4 134,303,318 (GRCm39) missense probably damaging 1.00
X0062:Man1c1 UTSW 4 134,430,683 (GRCm39) missense possibly damaging 0.74
X0063:Man1c1 UTSW 4 134,303,288 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTTTCCTACGGAGAACACC -3'
(R):5'- AAACTCCCTGAACTTCGGGC -3'

Sequencing Primer
(F):5'- TCCTGCTCTGACACCGAGTG -3'
(R):5'- TGAACTTCGGGCGGGTC -3'
Posted On 2014-07-14