Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01618:Man2c1'

92476

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 #

IGL01618

Quality Score

Status

Chromosome

Chromosomal Location

57130690-57142722 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 57141556 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139917 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034836] [ENSMUST00000034842] [ENSMUST00000159130] [ENSMUST00000160147] [ENSMUST00000160584] [ENSMUST00000161182] [ENSMUST00000161663] [ENSMUST00000162915] [ENSMUST00000190245] [ENSMUST00000161338] [ENSMUST00000186410]

AlphaFold

Q91W89

Predicted Effect

probably benign
Transcript: ENSMUST00000034836

SMART Domains

Protein: ENSMUSP00000034836
Gene: ENSMUSG00000032295

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

SMART Domains

Protein: ENSMUSP00000125478
Gene: ENSMUSG00000032295

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

SMART Domains

Protein: ENSMUSP00000124020
Gene: ENSMUSG00000032295

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: 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: ENSMUST00000162915

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

Predicted Effect

probably benign
Transcript: ENSMUST00000161338

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

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	C	T	19: 55,272,833	A74V	probably benign	Het
Adh4	C	T	3: 138,429,027		probably benign	Het
Aldh1a3	G	A	7: 66,409,230	T239I	probably damaging	Het
Anxa9	A	G	3: 95,300,536		probably null	Het
Atp5k	C	A	5: 108,434,033	K28N	probably damaging	Het
C9	T	G	15: 6,459,668	Y169D	probably benign	Het
Cbwd1	T	C	19: 24,940,776	E210G	possibly damaging	Het
Chat	T	A	14: 32,446,892		probably null	Het
Csmd3	C	T	15: 48,011,083	E706K	probably benign	Het
Ctbs	A	G	3: 146,455,112	K145E	probably benign	Het
Dennd5a	A	G	7: 109,934,095	M156T	probably damaging	Het
Dhx29	A	G	13: 112,965,222	Y1275C	probably damaging	Het
Dpp10	A	T	1: 123,367,867	F517Y	probably benign	Het
Dst	G	A	1: 34,188,909	W1536*	probably null	Het
Galc	T	C	12: 98,252,081	T171A	possibly damaging	Het
Gsap	T	C	5: 21,226,248	I190T	probably damaging	Het
Hars2	A	T	18: 36,789,577	R388*	probably null	Het
Igsf21	C	T	4: 140,107,364	G66S	possibly damaging	Het
Itgbl1	T	A	14: 123,827,799	S122T	possibly damaging	Het
Jhy	G	T	9: 40,960,964	T83K	possibly damaging	Het
Kcne4	A	T	1: 78,817,808	M58L	possibly damaging	Het
Lamc3	T	A	2: 31,912,107	I509N	probably damaging	Het
Lpar6	T	C	14: 73,239,066	S156P	probably damaging	Het
March11	T	C	15: 26,409,199	I328T	possibly damaging	Het
Mc3r	T	A	2: 172,249,370	C171S	probably benign	Het
Muc4	A	T	16: 32,756,627	Q2167L	unknown	Het
Myom1	T	C	17: 71,099,993	V1135A	possibly damaging	Het
Nectin1	C	T	9: 43,791,258	R101*	probably null	Het
Nxpe4	T	C	9: 48,394,140	S277P	possibly damaging	Het
Olfr1152	A	C	2: 87,868,144	D51A	probably damaging	Het
Olfr1459	T	A	19: 13,146,250	K136N	probably benign	Het
Olfr395	T	C	11: 73,907,477	N5S	probably damaging	Het
Olfr437	T	A	6: 43,167,703	V215E	probably damaging	Het
Olfr584	G	A	7: 103,086,375	V281I	probably benign	Het
Pappa2	G	T	1: 158,857,378	N730K	probably damaging	Het
Prepl	A	G	17: 85,066,281	V586A	probably damaging	Het
Prrc2a	T	C	17: 35,149,553	Y2098C	probably damaging	Het
Rdh16	G	A	10: 127,801,307	C37Y	probably damaging	Het
Rnd1	A	T	15: 98,673,865	M100K	probably benign	Het
Sema3c	A	G	5: 17,672,506	N204D	probably damaging	Het
Susd4	A	G	1: 182,858,461		probably null	Het
Taar7f	G	T	10: 24,050,341	A278S	possibly damaging	Het
Tle4	T	A	19: 14,544,814	M122L	probably benign	Het
Trim9	C	T	12: 70,248,351	V662I	probably benign	Het
Vmn2r10	C	A	5: 109,002,479	C233F	probably damaging	Het
Vmn2r98	A	C	17: 19,065,259	T114P	possibly damaging	Het
Zfyve21	C	T	12: 111,827,813		probably benign	Het

Other mutations in Man2c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01314:Man2c1	APN	9	57141819	missense	probably benign
IGL01408:Man2c1	APN	9	57141600	missense	probably damaging	1.00
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

2013-12-09