Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02441:Man1a2'

293962

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Man1a2

Ensembl Gene

ENSMUSG00000008763

Gene Name

mannosidase, alpha, class 1A, member 2

Synonyms

Man1b

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02441

Quality Score

Status

Chromosome

Chromosomal Location

100562208-100685503 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100591873 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 415 (T415I)

Ref Sequence

ENSEMBL: ENSMUSP00000008907 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008907]

Predicted Effect

probably benign
Transcript: ENSMUST00000008907
AA Change: T415I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000008907
Gene: ENSMUSG00000008763
AA Change: T415I

Domain	Start	End	E-Value	Type
transmembrane domain	37	56	N/A	INTRINSIC
coiled coil region	101	153	N/A	INTRINSIC
low complexity region	155	170	N/A	INTRINSIC
Pfam:Glyco_hydro_47	187	626	2.8e-156	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133642

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197836

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alpha-mannosidases function at different stages of N-glycan maturation in mammalian cells. See MAN2A1 (MIM 154582) for general information.[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutation of this gene results in respiratory distress and death within a few hours after birth. Lung development is delayed, the alveolar septum is thickened, and hemorrhage occurs in the alveolar region. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg8	C	T	7: 97,380,297	R179C	probably benign	Het
Als2	A	G	1: 59,215,472	M242T	probably damaging	Het
Atad1	C	T	19: 32,706,948	V17I	probably benign	Het
Bag4	A	G	8: 25,768,108	V397A	probably damaging	Het
Brd7	A	G	8: 88,343,590	V396A	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cdhr4	T	A	9: 107,993,267	I123N	possibly damaging	Het
Cep68	A	G	11: 20,239,186	F609L	probably benign	Het
Clec3b	C	A	9: 123,151,113	P24T	possibly damaging	Het
Ctsg	T	A	14: 56,102,412	T9S	probably benign	Het
Dalrd3	A	T	9: 108,571,526		probably benign	Het
Dock6	A	T	9: 21,841,926	V286E	possibly damaging	Het
Dpep2	G	A	8: 105,985,091	A568V	probably benign	Het
Dph5	A	C	3: 115,926,741	Q192P	possibly damaging	Het
Eppin	T	A	2: 164,591,778	R37*	probably null	Het
Esyt1	A	G	10: 128,512,424	L865P	possibly damaging	Het
Exoc6b	A	G	6: 85,005,008	L102P	probably damaging	Het
Foxo6	A	G	4: 120,268,035	I521T	possibly damaging	Het
Guca1a	A	T	17: 47,394,653		probably benign	Het
Hpx	A	G	7: 105,592,223	F327S	probably damaging	Het
Hspa12b	A	G	2: 131,138,595	M145V	probably null	Het
Hspa4	A	T	11: 53,270,982	S448T	probably benign	Het
Kbtbd6	T	C	14: 79,453,319	Y422H	probably benign	Het
Lama4	A	T	10: 39,061,445	D677V	probably benign	Het
Ldb1	C	T	19: 46,035,756	E111K	probably damaging	Het
Macf1	A	G	4: 123,387,236	S3823P	probably damaging	Het
Map3k2	T	C	18: 32,200,046		probably benign	Het
Morn5	T	A	2: 36,055,026	Y87*	probably null	Het
Mpp3	T	C	11: 102,009,675	D326G	probably benign	Het
Mrgprx1	T	C	7: 48,021,588	H137R	probably benign	Het
Nav2	C	A	7: 49,452,512	P292T	probably damaging	Het
Nlrp2	C	A	7: 5,335,567		probably null	Het
Noxo1	G	A	17: 24,699,056	S112N	probably damaging	Het
Nudt9	G	T	5: 104,065,019	K319N	probably benign	Het
Olfr885	A	T	9: 38,061,937	I206L	probably benign	Het
Osbpl7	C	A	11: 97,067,702	Q728K	probably damaging	Het
Pcsk1	A	T	13: 75,132,163	E702D	probably benign	Het
Piezo2	T	C	18: 63,072,862	D1492G	probably damaging	Het
Plekhg1	A	G	10: 3,958,103	K1007E	possibly damaging	Het
Ppp6r3	G	A	19: 3,464,693	P141S	probably benign	Het
Prrt3	T	C	6: 113,497,016	T354A	probably damaging	Het
Ptk2	C	A	15: 73,320,826	W181L	probably benign	Het
Rif1	T	A	2: 52,105,515	H915Q	probably benign	Het
Selenbp2	G	T	3: 94,704,064	V361L	probably benign	Het
Slamf7	A	G	1: 171,641,057	L89P	probably damaging	Het
Slc6a21	G	A	7: 45,288,081	V599M	probably damaging	Het
Sltm	G	T	9: 70,587,185	S921I	probably damaging	Het
Smc4	C	A	3: 69,006,211	A44E	probably damaging	Het
Tdrd5	A	T	1: 156,259,943		probably benign	Het
Tead2	T	A	7: 45,217,421	I68N	probably damaging	Het
Tnks1bp1	T	A	2: 85,071,799	S1680T	probably damaging	Het
Topbp1	T	C	9: 103,320,239	V386A	possibly damaging	Het
Tpx2	C	A	2: 152,882,287	P328T	possibly damaging	Het
Ttn	T	A	2: 76,745,988	I24854F	probably damaging	Het
Zbtb11	G	A	16: 55,974,189	R43H	possibly damaging	Het
Zfp609	A	G	9: 65,703,329	L784S	possibly damaging	Het
Zfp703	T	C	8: 26,980,008	S567P	probably damaging	Het
Zfp750	A	G	11: 121,513,629	I140T	probably benign	Het

Other mutations in Man1a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01987:Man1a2	APN	3	100644557	missense	probably damaging	1.00
IGL02009:Man1a2	APN	3	100684662	missense	probably damaging	0.99
IGL02097:Man1a2	APN	3	100582131	missense	possibly damaging	0.68
IGL02395:Man1a2	APN	3	100644537	splice site	probably null
R0043:Man1a2	UTSW	3	100587880	missense	probably damaging	1.00
R0064:Man1a2	UTSW	3	100591883	missense	possibly damaging	0.95
R0217:Man1a2	UTSW	3	100617037	missense	possibly damaging	0.61
R0266:Man1a2	UTSW	3	100582034	missense	probably damaging	1.00
R0284:Man1a2	UTSW	3	100684786	missense	probably damaging	0.98
R0633:Man1a2	UTSW	3	100684575	missense	possibly damaging	0.80
R1074:Man1a2	UTSW	3	100656086	missense	possibly damaging	0.68
R2167:Man1a2	UTSW	3	100591900	missense	probably damaging	1.00
R2177:Man1a2	UTSW	3	100632531	missense	probably damaging	1.00
R3822:Man1a2	UTSW	3	100632597	missense	possibly damaging	0.48
R4361:Man1a2	UTSW	3	100656042	missense	probably benign
R4652:Man1a2	UTSW	3	100632561	missense	probably damaging	1.00
R4871:Man1a2	UTSW	3	100617056	missense	probably damaging	1.00
R5153:Man1a2	UTSW	3	100656263	missense	probably damaging	1.00
R5182:Man1a2	UTSW	3	100647017	missense	probably damaging	0.99
R5201:Man1a2	UTSW	3	100617012	missense	probably benign
R5251:Man1a2	UTSW	3	100620099	missense	probably damaging	1.00
R6135:Man1a2	UTSW	3	100684932	start gained	probably benign
R6793:Man1a2	UTSW	3	100632597	missense	possibly damaging	0.48
R6886:Man1a2	UTSW	3	100656071	missense	probably benign	0.00
R7209:Man1a2	UTSW	3	100647079	missense	unknown
R7224:Man1a2	UTSW	3	100582053	missense	possibly damaging	0.85
R7308:Man1a2	UTSW	3	100620105	missense	probably damaging	1.00
R7815:Man1a2	UTSW	3	100656179	missense	probably damaging	0.99
R7826:Man1a2	UTSW	3	100582139	missense	probably damaging	1.00
R8427:Man1a2	UTSW	3	100684685	missense	probably benign	0.18

Posted On

2015-04-16