Incidental Mutation 'IGL03176:Man2c1'
ID 412002
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Man2c1
Ensembl Gene ENSMUSG00000032295
Gene Name mannosidase, alpha, class 2C, member 1
Synonyms 1110025H24Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03176
Quality Score
Status
Chromosome 9
Chromosomal Location 57037953-57049497 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57048030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 739 (N739D)
Ref Sequence ENSEMBL: ENSMUSP00000124020 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034836] [ENSMUST00000034842] [ENSMUST00000159130] [ENSMUST00000160147] [ENSMUST00000161182] [ENSMUST00000161663] [ENSMUST00000160584] [ENSMUST00000161338] [ENSMUST00000162915] [ENSMUST00000186410] [ENSMUST00000190245]
AlphaFold Q91W89
Predicted Effect probably benign
Transcript: ENSMUST00000034836
AA Change: N836D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000034836
Gene: ENSMUSG00000032295
AA Change: N836D

DomainStartEndE-ValueType
low complexity region 187 195 N/A INTRINSIC
Pfam:Glyco_hydro_38 251 510 4.3e-89 PFAM
Alpha-mann_mid 516 593 1.37e-26 SMART
low complexity region 603 613 N/A INTRINSIC
Pfam:Glyco_hydro_38C 619 1029 1.3e-84 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000034842
SMART Domains Protein: ENSMUSP00000034842
Gene: ENSMUSG00000032298

DomainStartEndE-ValueType
Fapy_DNA_glyco 2 124 2.9e-16 SMART
H2TH 139 224 9.35e-2 SMART
Pfam:Neil1-DNA_bind 252 290 2.2e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159101
SMART Domains Protein: ENSMUSP00000124304
Gene: ENSMUSG00000032295

DomainStartEndE-ValueType
Alpha-mann_mid 21 100 1.22e-32 SMART
low complexity region 110 120 N/A INTRINSIC
low complexity region 164 180 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159130
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159402
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159496
Predicted Effect probably benign
Transcript: ENSMUST00000160147
AA Change: N838D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000125478
Gene: ENSMUSG00000032295
AA Change: N838D

DomainStartEndE-ValueType
low complexity region 187 195 N/A INTRINSIC
Pfam:Glyco_hydro_38 251 510 2.8e-86 PFAM
Alpha-mann_mid 516 595 1.22e-32 SMART
low complexity region 605 615 N/A INTRINSIC
Pfam:Glyco_hydro_38C 621 1031 1.2e-84 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161182
AA Change: N739D

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000124020
Gene: ENSMUSG00000032295
AA Change: N739D

DomainStartEndE-ValueType
Pfam:Glyco_hydro_38 175 411 9.4e-67 PFAM
Alpha-mann_mid 417 496 1.22e-32 SMART
low complexity region 506 516 N/A INTRINSIC
Pfam:Glyco_hydro_38C 522 932 1.1e-84 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160042
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161875
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159711
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159954
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160280
Predicted Effect probably benign
Transcript: ENSMUST00000161663
SMART Domains Protein: ENSMUSP00000124124
Gene: ENSMUSG00000032295

DomainStartEndE-ValueType
low complexity region 187 195 N/A INTRINSIC
Pfam:Glyco_hydro_38 302 551 1.8e-81 PFAM
Alpha-mann_mid 557 636 1.22e-32 SMART
low complexity region 646 656 N/A INTRINSIC
Pfam:Glyco_hydro_38C 662 866 1.2e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160584
SMART Domains Protein: ENSMUSP00000123840
Gene: ENSMUSG00000032295

DomainStartEndE-ValueType
low complexity region 187 195 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161338
Predicted Effect probably benign
Transcript: ENSMUST00000160426
SMART Domains Protein: ENSMUSP00000124005
Gene: ENSMUSG00000032295

DomainStartEndE-ValueType
Alpha-mann_mid 24 77 4.48e-1 SMART
low complexity region 87 97 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162634
Predicted Effect probably benign
Transcript: ENSMUST00000162915
Predicted Effect probably benign
Transcript: ENSMUST00000186410
SMART Domains Protein: ENSMUSP00000141048
Gene: ENSMUSG00000032298

DomainStartEndE-ValueType
Fapy_DNA_glyco 2 124 2.9e-16 SMART
H2TH 139 224 9.35e-2 SMART
Pfam:Neil1-DNA_bind 252 290 2.1e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190245
SMART Domains Protein: ENSMUSP00000139917
Gene: ENSMUSG00000032298

DomainStartEndE-ValueType
Fapy_DNA_glyco 2 124 2.9e-16 SMART
H2TH 139 224 9.35e-2 SMART
Pfam:Neil1-DNA_bind 252 290 2.1e-29 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Germ line null mutants display neuronal and glia degeneration, glycogen accumulation, and liver and kidney damage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam23 C A 1: 63,602,575 (GRCm39) P579Q probably damaging Het
Adam6a A G 12: 113,509,822 (GRCm39) T732A probably benign Het
Ahnak T A 19: 8,985,530 (GRCm39) N2271K possibly damaging Het
Ahnak T C 19: 8,979,813 (GRCm39) S366P probably damaging Het
Akr1a1 A G 4: 116,496,272 (GRCm39) L213S probably damaging Het
Ammecr1l T A 18: 31,905,102 (GRCm39) D114E possibly damaging Het
Casq2 G T 3: 102,033,970 (GRCm39) V167L possibly damaging Het
Cd164l2 T C 4: 132,951,565 (GRCm39) I172T possibly damaging Het
Clec4g C T 8: 3,768,441 (GRCm39) V97M possibly damaging Het
Dnah8 T A 17: 30,913,011 (GRCm39) N1068K probably benign Het
Epyc A G 10: 97,485,562 (GRCm39) M1V probably null Het
Eya3 A G 4: 132,439,233 (GRCm39) E437G possibly damaging Het
Fbln1 C T 15: 85,128,507 (GRCm39) T568I possibly damaging Het
Fcrl1 A T 3: 87,298,564 (GRCm39) N353I probably damaging Het
Gm10272 A T 10: 77,542,467 (GRCm39) H3L probably null Het
Gm15130 A G 2: 110,978,846 (GRCm39) S32P unknown Het
Gm20379 C A 13: 92,442,529 (GRCm39) probably benign Het
Igf2r A T 17: 12,935,559 (GRCm39) Y644N probably damaging Het
Krtap4-9 T C 11: 99,676,106 (GRCm39) probably benign Het
Mcm5 C T 8: 75,836,481 (GRCm39) T49M possibly damaging Het
Otof C T 5: 30,562,520 (GRCm39) probably null Het
Ptgr2 C T 12: 84,354,668 (GRCm39) T283I probably damaging Het
Rhox4c G T X: 36,662,181 (GRCm39) G15V probably benign Het
Rnd1 A T 15: 98,568,569 (GRCm39) L203H probably damaging Het
Rnf186 A G 4: 138,695,231 (GRCm39) N257S probably benign Het
Rsf1 T C 7: 97,328,357 (GRCm39) probably benign Het
Ryr2 G A 13: 11,756,909 (GRCm39) Q1582* probably null Het
Sntg2 G A 12: 30,317,022 (GRCm39) probably benign Het
Spata31d1c A G 13: 65,184,825 (GRCm39) D789G probably benign Het
Strc A C 2: 121,202,661 (GRCm39) L1168R probably damaging Het
Tmtc3 A T 10: 100,301,993 (GRCm39) S319T possibly damaging Het
Vmn1r88 A T 7: 12,911,779 (GRCm39) D45V probably damaging Het
Vps13d A T 4: 144,801,533 (GRCm39) F3531I probably benign Het
Other mutations in Man2c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01314:Man2c1 APN 9 57,049,103 (GRCm39) missense probably benign
IGL01408:Man2c1 APN 9 57,048,884 (GRCm39) missense probably damaging 1.00
IGL01618:Man2c1 APN 9 57,048,840 (GRCm39) unclassified probably benign
IGL01750:Man2c1 APN 9 57,048,064 (GRCm39) critical splice donor site probably null
IGL01796:Man2c1 APN 9 57,045,244 (GRCm39) missense possibly damaging 0.52
IGL02661:Man2c1 APN 9 57,044,766 (GRCm39) missense probably damaging 1.00
IGL03166:Man2c1 APN 9 57,046,382 (GRCm39) missense probably damaging 1.00
IGL03209:Man2c1 APN 9 57,049,114 (GRCm39) missense probably benign 0.00
R0014:Man2c1 UTSW 9 57,046,985 (GRCm39) missense probably benign 0.00
R0329:Man2c1 UTSW 9 57,048,467 (GRCm39) missense probably benign 0.40
R0432:Man2c1 UTSW 9 57,042,881 (GRCm39) missense probably damaging 1.00
R1448:Man2c1 UTSW 9 57,042,503 (GRCm39) missense probably benign 0.23
R1616:Man2c1 UTSW 9 57,042,793 (GRCm39) missense probably benign 0.00
R1838:Man2c1 UTSW 9 57,044,621 (GRCm39) missense probably benign 0.07
R2511:Man2c1 UTSW 9 57,048,672 (GRCm39) splice site probably null
R3751:Man2c1 UTSW 9 57,048,058 (GRCm39) missense probably damaging 1.00
R3771:Man2c1 UTSW 9 57,047,661 (GRCm39) unclassified probably benign
R3772:Man2c1 UTSW 9 57,047,661 (GRCm39) unclassified probably benign
R4110:Man2c1 UTSW 9 57,044,055 (GRCm39) missense probably damaging 0.98
R4116:Man2c1 UTSW 9 57,047,589 (GRCm39) critical splice donor site probably null
R4167:Man2c1 UTSW 9 57,045,310 (GRCm39) missense probably benign 0.15
R4169:Man2c1 UTSW 9 57,045,310 (GRCm39) missense probably benign 0.15
R4170:Man2c1 UTSW 9 57,045,310 (GRCm39) missense probably benign 0.15
R4405:Man2c1 UTSW 9 57,046,367 (GRCm39) missense probably damaging 0.98
R4551:Man2c1 UTSW 9 57,038,445 (GRCm39) missense probably damaging 1.00
R4618:Man2c1 UTSW 9 57,049,439 (GRCm39) splice site probably null
R4798:Man2c1 UTSW 9 57,048,469 (GRCm39) nonsense probably null
R4903:Man2c1 UTSW 9 57,046,240 (GRCm39) missense probably benign 0.08
R5030:Man2c1 UTSW 9 57,047,923 (GRCm39) missense probably benign 0.00
R5079:Man2c1 UTSW 9 57,044,000 (GRCm39) missense probably damaging 1.00
R5086:Man2c1 UTSW 9 57,038,924 (GRCm39) missense probably damaging 0.96
R6430:Man2c1 UTSW 9 57,038,517 (GRCm39) missense possibly damaging 0.91
R6695:Man2c1 UTSW 9 57,048,875 (GRCm39) missense probably benign 0.03
R6743:Man2c1 UTSW 9 57,042,849 (GRCm39) missense probably benign 0.41
R7011:Man2c1 UTSW 9 57,045,117 (GRCm39) missense probably damaging 1.00
R7493:Man2c1 UTSW 9 57,048,412 (GRCm39) missense probably damaging 0.98
R7513:Man2c1 UTSW 9 57,046,683 (GRCm39) missense probably benign 0.44
R7527:Man2c1 UTSW 9 57,045,100 (GRCm39) nonsense probably null
R7540:Man2c1 UTSW 9 57,047,559 (GRCm39) missense probably damaging 1.00
R7760:Man2c1 UTSW 9 57,046,647 (GRCm39) missense probably benign 0.23
R7868:Man2c1 UTSW 9 57,045,270 (GRCm39) missense probably damaging 0.99
R8261:Man2c1 UTSW 9 57,046,942 (GRCm39) missense probably benign 0.17
R8397:Man2c1 UTSW 9 57,042,783 (GRCm39) missense probably benign 0.01
R8429:Man2c1 UTSW 9 57,038,445 (GRCm39) missense probably damaging 1.00
R8519:Man2c1 UTSW 9 57,044,061 (GRCm39) missense probably benign 0.12
R8530:Man2c1 UTSW 9 57,038,922 (GRCm39) missense probably damaging 1.00
R8544:Man2c1 UTSW 9 57,038,325 (GRCm39) splice site probably null
R8925:Man2c1 UTSW 9 57,048,456 (GRCm39) nonsense probably null
R8927:Man2c1 UTSW 9 57,048,456 (GRCm39) nonsense probably null
R8960:Man2c1 UTSW 9 57,045,279 (GRCm39) missense probably damaging 1.00
R9171:Man2c1 UTSW 9 57,044,317 (GRCm39) nonsense probably null
R9326:Man2c1 UTSW 9 57,042,904 (GRCm39) missense probably damaging 1.00
R9414:Man2c1 UTSW 9 57,044,030 (GRCm39) missense possibly damaging 0.95
Posted On 2016-08-02