Mutagenetix > Incidental Mutations

Incidental Mutation 'R0043:Man1a2'

16139

Institutional Source

Beutler Lab

Gene Symbol

Man1a2

Ensembl Gene

ENSMUSG00000008763

Gene Name

mannosidase, alpha, class 1A, member 2

Synonyms

Man1b

MMRRC Submission

038337-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0043 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

100562208-100685503 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100587880 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 448 (W448R)

Ref Sequence

ENSEMBL: ENSMUSP00000008907 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000008907
AA Change: W448R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000008907
Gene: ENSMUSG00000008763
AA Change: W448R

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

Meta Mutation Damage Score

0.3097

Coding Region Coverage

1x: 81.2%
3x: 72.1%
10x: 49.9%
20x: 30.2%

Validation Efficiency

90% (56/62)

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	T	A	1: 26,683,802	I766F	possibly damaging	Het
Accs	A	G	2: 93,841,885	Y213H	probably benign	Het
Adcy9	A	G	16: 4,289,015	L982P	probably benign	Het
Cntnap2	T	A	6: 46,483,983	V651E	probably benign	Het
Cstf3	A	T	2: 104,645,085		probably benign	Het
Dnah1	T	C	14: 31,274,405	D2658G	probably damaging	Het
Dsg4	T	C	18: 20,452,972	S240P	probably damaging	Het
Dync2h1	C	T	9: 7,005,574	M3765I	probably benign	Het
Fam160b2	A	T	14: 70,588,661	S304T	probably benign	Het
Fbxw7	T	C	3: 84,972,567		probably benign	Het
Gata4	T	C	14: 63,203,301		probably benign	Het
Hyal1	T	C	9: 107,579,320	L152P	probably benign	Het
Ifi207	T	A	1: 173,729,112	T694S	possibly damaging	Het
Kalrn	C	A	16: 34,054,906	G99W	probably damaging	Het
Mfsd6	A	T	1: 52,708,652	Y351*	probably null	Het
Miox	C	T	15: 89,336,274	L189F	possibly damaging	Het
Mki67	T	C	7: 135,700,581	D908G	probably benign	Het
Nav3	A	G	10: 109,767,518	S1057P	possibly damaging	Het
Rasgef1b	T	C	5: 99,243,194	Y102C	probably damaging	Het
Sbf1	A	G	15: 89,295,561	V1281A	probably benign	Het
Sfmbt1	T	A	14: 30,816,807	S794R	probably damaging	Het
Skint3	T	A	4: 112,277,623	V331E	probably damaging	Het
Spata6	A	T	4: 111,780,805	R277S	probably damaging	Het
Spink12	T	C	18: 44,107,696	C50R	probably damaging	Het
Trappc11	A	G	8: 47,505,575		probably benign	Het
Ube2u	G	T	4: 100,482,829	V66F	possibly damaging	Het
Usp42	A	C	5: 143,714,710	V1186G	probably benign	Het
Yme1l1	T	C	2: 23,187,803	I419T	probably damaging	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
IGL02441:Man1a2	APN	3	100591873	missense	probably benign	0.01
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

2013-01-08