Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01796:Man2c1'

155347

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 #

IGL01796

Quality Score

Status

Chromosome

Chromosomal Location

57130690-57142722 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 57137960 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 451 (T451I)

Ref Sequence

ENSEMBL: ENSMUSP00000125478 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034836] [ENSMUST00000159130] [ENSMUST00000160147] [ENSMUST00000161663] [ENSMUST00000161182] [ENSMUST00000161393] [ENSMUST00000190245] [ENSMUST00000160584] [ENSMUST00000162915] [ENSMUST00000161338]

AlphaFold

Q91W89

Predicted Effect

probably benign
Transcript: ENSMUST00000034836
AA Change: T451I

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000034836
Gene: ENSMUSG00000032295
AA Change: T451I

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: 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

possibly damaging
Transcript: ENSMUST00000160147
AA Change: T451I

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125478
Gene: ENSMUSG00000032295
AA Change: T451I

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: ENSMUST00000161663
AA Change: T492I

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000124124
Gene: ENSMUSG00000032295
AA Change: T492I

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: ENSMUST00000161182
AA Change: T352I

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124020
Gene: ENSMUSG00000032295
AA Change: T352I

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: ENSMUST00000161875

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162340

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161696

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162634

Predicted Effect

probably benign
Transcript: ENSMUST00000161393

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: 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: ENSMUST00000162915

Predicted Effect

probably benign
Transcript: ENSMUST00000161338

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	C	5: 125,513,209	Y511H	probably damaging	Het
Abca7	T	G	10: 80,013,909	Y1948D	probably damaging	Het
Adgrl2	C	A	3: 148,858,975	G319V	probably damaging	Het
Adgrv1	T	A	13: 81,567,342	D909V	probably benign	Het
Anapc16	T	C	10: 59,988,757	E119G	possibly damaging	Het
C1qtnf12	T	C	4: 155,966,429	V285A	possibly damaging	Het
Cbr1	A	C	16: 93,608,231	N89T	probably damaging	Het
Cdh23	T	A	10: 60,311,137	Q2778L	probably benign	Het
Clca4c-ps	A	G	3: 144,889,579		noncoding transcript	Het
Cst9	T	C	2: 148,835,349	F47L	probably damaging	Het
Dqx1	T	C	6: 83,066,427		probably benign	Het
Dus4l	T	C	12: 31,642,795	S150G	probably benign	Het
E2f2	A	T	4: 136,180,417	K142*	probably null	Het
Eif2ak4	T	A	2: 118,446,304	H169Q	probably benign	Het
Fmo9	C	T	1: 166,663,335	A525T	probably benign	Het
Gm42878	T	C	5: 121,545,184	D6G	probably benign	Het
Igfals	A	G	17: 24,880,082	Y49C	probably damaging	Het
Iltifb	T	C	10: 118,290,164	N176S	possibly damaging	Het
Ipo7	T	C	7: 110,029,848		probably benign	Het
Itga1	T	C	13: 114,985,121	E784G	probably damaging	Het
Jcad	G	T	18: 4,672,855	E206*	probably null	Het
Kif24	A	T	4: 41,392,978		probably benign	Het
Lrrc2	T	A	9: 110,980,818		probably null	Het
Ltbp1	A	G	17: 75,227,245		probably benign	Het
Manba	T	A	3: 135,542,389	N346K	probably damaging	Het
Nell1	T	C	7: 50,176,216		probably benign	Het
Nfat5	T	C	8: 107,367,641	V744A	probably damaging	Het
Nms	T	C	1: 38,946,111	M98T	possibly damaging	Het
Nos1	A	T	5: 117,938,274	K1120*	probably null	Het
Olfr741	C	A	14: 50,485,541	Q28K	probably benign	Het
Plekho1	C	T	3: 95,990,835	R172H	probably damaging	Het
Pot1b	A	T	17: 55,669,750	C391S	possibly damaging	Het
Scn1a	G	A	2: 66,332,301		probably benign	Het
Sgce	T	G	6: 4,711,326	N149H	probably damaging	Het
Slc45a1	A	G	4: 150,643,969	W126R	probably damaging	Het
Slc9a1	G	A	4: 133,420,093		probably benign	Het
Tmem131l	T	A	3: 83,938,055	K423*	probably null	Het
Tnrc18	C	T	5: 142,764,887	E1444K	possibly damaging	Het
Tpp1	T	C	7: 105,747,650		probably benign	Het
Trip12	A	C	1: 84,728,278	S610R	probably benign	Het
Ushbp1	G	T	8: 71,387,432	A525E	probably benign	Het
Vmn2r106	A	T	17: 20,268,052	M695K	possibly damaging	Het
Vmn2r118	A	G	17: 55,608,585	I455T	probably benign	Het
Zbtb41	T	C	1: 139,442,883	F686S	probably damaging	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
IGL01618:Man2c1	APN	9	57141556	unclassified	probably benign
IGL01750:Man2c1	APN	9	57140780	critical splice donor site	probably null
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

2014-02-04