Incidental Mutation 'R0526:Man1c1'
ID 48905
Institutional Source Beutler Lab
Gene Symbol Man1c1
Ensembl Gene ENSMUSG00000037306
Gene Name mannosidase, alpha, class 1C, member 1
Synonyms
MMRRC Submission 038719-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R0526 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 134289001-134431601 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 134296379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 430 (Y430*)
Ref Sequence ENSEMBL: ENSMUSP00000050979 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038628] [ENSMUST00000054096]
AlphaFold Q6NXK9
Predicted Effect probably null
Transcript: ENSMUST00000038628
AA Change: Y430*
SMART Domains Protein: ENSMUSP00000037949
Gene: ENSMUSG00000037306
AA Change: Y430*

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 null
Transcript: ENSMUST00000054096
AA Change: Y430*
SMART Domains Protein: ENSMUSP00000050979
Gene: ENSMUSG00000037306
AA Change: Y430*

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185007
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 92.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik A T 4: 137,182,535 (GRCm39) N230I possibly damaging Het
4933427D14Rik G T 11: 72,060,609 (GRCm39) Q687K probably damaging Het
Actrt2 A G 4: 154,751,869 (GRCm39) L89P probably damaging Het
Adamts1 A C 16: 85,599,260 (GRCm39) S113R probably benign Het
Agxt2 G T 15: 10,373,948 (GRCm39) C118F probably damaging Het
Akap8 G A 17: 32,536,266 (GRCm39) T49I probably benign Het
Alk A T 17: 72,176,748 (GRCm39) W1519R probably damaging Het
Atf7ip T A 6: 136,536,803 (GRCm39) F12Y probably damaging Het
Atp13a5 A G 16: 29,167,558 (GRCm39) C131R probably damaging Het
Atp8b4 A G 2: 126,269,283 (GRCm39) L168P probably damaging Het
Blm G T 7: 80,155,641 (GRCm39) S346* probably null Het
Ccnt2 T G 1: 127,727,182 (GRCm39) C199G probably damaging Het
Cd151 A T 7: 141,050,504 (GRCm39) H219L probably damaging Het
Cd200r2 A T 16: 44,735,410 (GRCm39) R248S probably damaging Het
Cdh3 A G 8: 107,282,078 (GRCm39) D822G possibly damaging Het
Clec4b1 T C 6: 123,046,729 (GRCm39) probably null Het
Cluh C A 11: 74,556,812 (GRCm39) L951I probably benign Het
Cog7 A T 7: 121,562,494 (GRCm39) probably null Het
Col25a1 C A 3: 130,270,043 (GRCm39) P197Q probably damaging Het
Csde1 T A 3: 102,963,742 (GRCm39) S636R possibly damaging Het
Ect2l C A 10: 18,075,688 (GRCm39) C66F possibly damaging Het
Elac2 T C 11: 64,890,262 (GRCm39) M671T probably benign Het
Evi5 T C 5: 107,969,614 (GRCm39) N143S probably benign Het
Ext2 A G 2: 93,636,430 (GRCm39) V228A probably damaging Het
Fbxo38 A G 18: 62,639,051 (GRCm39) Y1084H probably damaging Het
Fcgr4 T A 1: 170,856,760 (GRCm39) L209Q probably damaging Het
Fgd3 C T 13: 49,450,000 (GRCm39) S83N probably benign Het
Gigyf2 T A 1: 87,349,215 (GRCm39) M664K probably benign Het
Il27ra A T 8: 84,766,128 (GRCm39) S219T probably benign Het
Itprid2 A G 2: 79,487,690 (GRCm39) D591G probably benign Het
Kif15 T C 9: 122,826,862 (GRCm39) V800A probably damaging Het
Lmo7 T A 14: 102,137,996 (GRCm39) D666E probably damaging Het
Lrp5 T C 19: 3,678,295 (GRCm39) D520G probably damaging Het
Lrriq3 T A 3: 154,893,934 (GRCm39) M545K probably benign Het
Lsm5 T A 6: 56,680,310 (GRCm39) D44V probably damaging Het
Map4 T A 9: 109,866,346 (GRCm39) probably null Het
Megf6 A G 4: 154,343,398 (GRCm39) K561R probably benign Het
Myo1e T C 9: 70,229,680 (GRCm39) Y173H probably damaging Het
Myo6 T A 9: 80,190,823 (GRCm39) S791R possibly damaging Het
Nol11 C A 11: 107,075,597 (GRCm39) E144* probably null Het
Ntng2 C T 2: 29,087,074 (GRCm39) R416Q probably damaging Het
Nxpe3 T A 16: 55,686,880 (GRCm39) I43F possibly damaging Het
Or4g17 T A 2: 111,209,837 (GRCm39) V164E possibly damaging Het
Or5t5 A T 2: 86,616,691 (GRCm39) T206S possibly damaging Het
Pkd1l2 T C 8: 117,808,999 (GRCm39) I64V probably damaging Het
Prf1 G A 10: 61,136,033 (GRCm39) R103H probably benign Het
Rest A G 5: 77,428,874 (GRCm39) D431G probably damaging Het
Serpina10 A T 12: 103,583,127 (GRCm39) L439Q probably damaging Het
Sgk3 T G 1: 9,951,804 (GRCm39) V176G probably damaging Het
Slc19a3 A G 1: 83,000,454 (GRCm39) S188P probably damaging Het
Sorbs1 A G 19: 40,338,392 (GRCm39) I336T probably damaging Het
Strip1 C T 3: 107,527,355 (GRCm39) probably null Het
Syt4 T C 18: 31,576,799 (GRCm39) E185G possibly damaging Het
Tcaf3 T A 6: 42,566,738 (GRCm39) I784F probably damaging Het
Tgfbr3l G T 8: 4,299,439 (GRCm39) R74L possibly damaging Het
Thoc7 A G 14: 13,949,282 (GRCm38) M194T probably benign Het
Thsd7b T C 1: 129,879,129 (GRCm39) Y989H probably damaging Het
Tmem156 C T 5: 65,233,161 (GRCm39) V134I probably benign Het
Tnks A T 8: 35,320,457 (GRCm39) V738E probably benign Het
Trpm6 A T 19: 18,770,240 (GRCm39) I342F probably damaging Het
Vmn2r69 A T 7: 85,060,711 (GRCm39) V291D probably damaging Het
Wdr59 GGGTGGTG GGGTG 8: 112,207,172 (GRCm39) probably benign Het
Wnk1 T C 6: 119,928,953 (GRCm39) T1292A probably damaging Het
Yes1 T A 5: 32,812,584 (GRCm39) C285S probably benign Het
Zbed6 T C 1: 133,586,472 (GRCm39) I288M probably damaging Het
Zbtb49 T C 5: 38,371,263 (GRCm39) N206S probably benign 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
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
R1915: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'- CATGGCACGTCCTGGTGATCTG -3'
(R):5'- TGTCGGCTCTGGGAATCTGACTC -3'

Sequencing Primer
(F):5'- ATCTGGGCTGCAAGCTCTC -3'
(R):5'- agccatctctccagtccc -3'
Posted On 2013-06-12