Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01314:Man2c1'

73792

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Man2c1

Ensembl Gene

ENSMUSG00000032295

Gene Name

mannosidase, alpha, class 2C, member 1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01314

Quality Score

Status

Chromosome

Chromosomal Location

57130690-57142722 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57141819 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 867 (H867L)

Ref Sequence

ENSEMBL: ENSMUSP00000124020 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034836] [ENSMUST00000034842] [ENSMUST00000159130] [ENSMUST00000160147] [ENSMUST00000160584] [ENSMUST00000161182] [ENSMUST00000161338] [ENSMUST00000161663] [ENSMUST00000186410] [ENSMUST00000190245]

AlphaFold

Q91W89

Predicted Effect

probably benign
Transcript: ENSMUST00000034836
AA Change: H964L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034836
Gene: ENSMUSG00000032295
AA Change: H964L

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000159711

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159843

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159954

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160042

Predicted Effect

probably benign
Transcript: ENSMUST00000160147
AA Change: H966L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125478
Gene: ENSMUSG00000032295
AA Change: H966L

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000160280

Predicted Effect

probably benign
Transcript: ENSMUST00000160426

SMART Domains

Protein: ENSMUSP00000124005
Gene: ENSMUSG00000032295

Domain	Start	End	E-Value	Type
Alpha-mann_mid	24	77	4.48e-1	SMART
low complexity region	87	97	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160584

SMART Domains

Protein: ENSMUSP00000123840
Gene: ENSMUSG00000032295

Domain	Start	End	E-Value	Type
low complexity region	187	195	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161182
AA Change: H867L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124020
Gene: ENSMUSG00000032295
AA Change: H867L

Domain	Start	End	E-Value	Type
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: ENSMUST00000162634

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161875

Predicted Effect

probably benign
Transcript: ENSMUST00000161338

Predicted Effect

probably benign
Transcript: ENSMUST00000161663

SMART Domains

Protein: ENSMUSP00000124124
Gene: ENSMUSG00000032295

Domain	Start	End	E-Value	Type
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: ENSMUST00000186410

SMART Domains

Protein: ENSMUSP00000141048
Gene: ENSMUSG00000032298

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430F08Rik	A	C	10: 100,573,611	D313E	probably damaging	Het
Adamts12	C	T	15: 11,071,853	A161V	probably benign	Het
Bptf	A	T	11: 107,054,853	V2520E	probably damaging	Het
C87436	T	C	6: 86,457,855	F395S	probably damaging	Het
Capn1	T	C	19: 5,989,984		probably benign	Het
Ceacam5	T	A	7: 17,747,256	Y309*	probably null	Het
Clasp2	A	G	9: 113,906,127	D1011G	possibly damaging	Het
Csmd3	A	G	15: 47,849,755	Y1608H	probably damaging	Het
Dcaf1	T	C	9: 106,834,191	I77T	probably benign	Het
Dcdc2a	T	C	13: 25,102,604	L170P	probably damaging	Het
Ddx28	A	G	8: 106,010,580	F282S	probably damaging	Het
Egf	A	G	3: 129,686,260	I497T	probably benign	Het
Emsy	A	G	7: 98,593,455	V1159A	probably benign	Het
Fam46c	T	C	3: 100,473,174	K89E	probably benign	Het
Hk3	C	A	13: 55,007,063		probably benign	Het
Htt	A	G	5: 34,878,856	D2049G	probably benign	Het
Inpp5d	C	A	1: 87,683,750	S45*	probably null	Het
Irf8	A	G	8: 120,753,380	Y119C	probably damaging	Het
Klk1b4	T	C	7: 44,211,176		probably null	Het
Macf1	A	G	4: 123,486,720	S1273P	probably damaging	Het
Mgat4e	T	C	1: 134,541,449	T286A	probably damaging	Het
Mug2	T	C	6: 122,081,279	F1267L	possibly damaging	Het
Necab1	T	A	4: 15,005,079	E128D	probably damaging	Het
Olfr1331	G	A	4: 118,869,131	V117I	probably benign	Het
Pds5a	A	G	5: 65,615,294	V1322A	probably benign	Het
Poc1b	C	T	10: 99,129,641	T144I	probably damaging	Het
Prcc	T	A	3: 87,870,080	N196Y	probably damaging	Het
Psma5	G	A	3: 108,279,795	V237M	possibly damaging	Het
Rap1gds1	A	G	3: 139,050,561	L11P	probably damaging	Het
Rapgef3	A	G	15: 97,748,223	F132S	probably damaging	Het
Rgs13	T	G	1: 144,171,441	D14A	probably benign	Het
Stxbp4	A	G	11: 90,621,649		probably benign	Het
Tcerg1	C	A	18: 42,573,309	A1017D	probably damaging	Het
Tmem79	T	C	3: 88,332,576	I276V	possibly damaging	Het
Tmem94	C	A	11: 115,790,009	H113N	probably damaging	Het
Vil1	G	A	1: 74,428,238	D715N	probably damaging	Het
Vmn2r96	A	G	17: 18,582,964	T187A	probably benign	Het
Zfhx4	T	A	3: 5,413,094	S3590T	probably damaging	Het

Other mutations in Man2c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01408:Man2c1	APN	9	57141600	missense	probably damaging	1.00
IGL01618:Man2c1	APN	9	57141556	unclassified	probably benign
IGL01750:Man2c1	APN	9	57140780	critical splice donor site	probably null
IGL01796:Man2c1	APN	9	57137960	missense	possibly damaging	0.52
IGL02661:Man2c1	APN	9	57137482	missense	probably damaging	1.00
IGL03166:Man2c1	APN	9	57139098	missense	probably damaging	1.00
IGL03176:Man2c1	APN	9	57140746	missense	probably benign	0.05
IGL03209:Man2c1	APN	9	57141830	missense	probably benign	0.00
R0014:Man2c1	UTSW	9	57139701	missense	probably benign	0.00
R0329:Man2c1	UTSW	9	57141183	missense	probably benign	0.40
R0432:Man2c1	UTSW	9	57135597	missense	probably damaging	1.00
R1448:Man2c1	UTSW	9	57135219	missense	probably benign	0.23
R1616:Man2c1	UTSW	9	57135509	missense	probably benign	0.00
R1838:Man2c1	UTSW	9	57137337	missense	probably benign	0.07
R2511:Man2c1	UTSW	9	57141388	splice site	probably null
R3751:Man2c1	UTSW	9	57140774	missense	probably damaging	1.00
R3771:Man2c1	UTSW	9	57140377	unclassified	probably benign
R3772:Man2c1	UTSW	9	57140377	unclassified	probably benign
R4110:Man2c1	UTSW	9	57136771	missense	probably damaging	0.98
R4116:Man2c1	UTSW	9	57140305	critical splice donor site	probably null
R4167:Man2c1	UTSW	9	57138026	missense	probably benign	0.15
R4169:Man2c1	UTSW	9	57138026	missense	probably benign	0.15
R4170:Man2c1	UTSW	9	57138026	missense	probably benign	0.15
R4405:Man2c1	UTSW	9	57139083	missense	probably damaging	0.98
R4551:Man2c1	UTSW	9	57131161	missense	probably damaging	1.00
R4618:Man2c1	UTSW	9	57142155	splice site	probably null
R4798:Man2c1	UTSW	9	57141185	nonsense	probably null
R4903:Man2c1	UTSW	9	57138956	missense	probably benign	0.08
R5030:Man2c1	UTSW	9	57140639	missense	probably benign	0.00
R5079:Man2c1	UTSW	9	57136716	missense	probably damaging	1.00
R5086:Man2c1	UTSW	9	57131640	missense	probably damaging	0.96
R6430:Man2c1	UTSW	9	57131233	missense	possibly damaging	0.91
R6695:Man2c1	UTSW	9	57141591	missense	probably benign	0.03
R6743:Man2c1	UTSW	9	57135565	missense	probably benign	0.41
R7011:Man2c1	UTSW	9	57137833	missense	probably damaging	1.00
R7493:Man2c1	UTSW	9	57141128	missense	probably damaging	0.98
R7513:Man2c1	UTSW	9	57139399	missense	probably benign	0.44
R7527:Man2c1	UTSW	9	57137816	nonsense	probably null
R7540:Man2c1	UTSW	9	57140275	missense	probably damaging	1.00
R7760:Man2c1	UTSW	9	57139363	missense	probably benign	0.23
R7868:Man2c1	UTSW	9	57137986	missense	probably damaging	0.99
R8261:Man2c1	UTSW	9	57139658	missense	probably benign	0.17
R8397:Man2c1	UTSW	9	57135499	missense	probably benign	0.01
R8429:Man2c1	UTSW	9	57131161	missense	probably damaging	1.00
R8519:Man2c1	UTSW	9	57136777	missense	probably benign	0.12
R8530:Man2c1	UTSW	9	57131638	missense	probably damaging	1.00
R8544:Man2c1	UTSW	9	57131041	splice site	probably null
R8925:Man2c1	UTSW	9	57141172	nonsense	probably null
R8927:Man2c1	UTSW	9	57141172	nonsense	probably null
R8960:Man2c1	UTSW	9	57137995	missense	probably damaging	1.00
R9171:Man2c1	UTSW	9	57137033	nonsense	probably null
R9326:Man2c1	UTSW	9	57135620	missense	probably damaging	1.00
R9414:Man2c1	UTSW	9	57136746	missense	possibly damaging	0.95

Posted On

2013-10-07