Mutagenetix > Incidental Mutation

Incidental Mutation 'R0064:Man1a2'

34393

Institutional Source

Beutler Lab

Gene Symbol

Man1a2

Ensembl Gene

ENSMUSG00000008763

Gene Name

mannosidase, alpha, class 1A, member 2

Synonyms

Man1b

MMRRC Submission

038356-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0064 (G1)

Quality Score

176

Status

Validated

Chromosome

Chromosomal Location

100562208-100685503 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100591883 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 412 (S412T)

Ref Sequence

ENSEMBL: ENSMUSP00000008907 (fasta)

Gene Model

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

AlphaFold

P39098

Predicted Effect

possibly damaging
Transcript: ENSMUST00000008907
AA Change: S412T

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000008907
Gene: ENSMUSG00000008763
AA Change: S412T

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

0.0999

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (55/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	G	T	11: 110,144,872	L641M	probably damaging	Het
Abca9	A	C	11: 110,144,871	L641R	probably damaging	Het
Abhd18	A	G	3: 40,933,853	I377M	probably benign	Het
Arhgef17	C	A	7: 100,881,354	M1408I	probably benign	Het
Bcl2a1a	G	C	9: 88,957,463	G138A	probably damaging	Het
C4b	A	G	17: 34,738,856	L617P	probably damaging	Het
Ccdc25	T	A	14: 65,854,112	I60K	possibly damaging	Het
Cdk1	T	C	10: 69,345,077	D101G	probably benign	Het
Cdon	A	G	9: 35,489,227	H1079R	probably benign	Het
Cep126	A	T	9: 8,130,182		probably benign	Het
Cic	C	A	7: 25,287,141	S1299Y	probably damaging	Het
Cic	T	A	7: 25,287,140	S1299T	probably damaging	Het
Clstn1	G	A	4: 149,634,796	V361M	probably damaging	Het
Crlf3	A	G	11: 80,057,902	I239T	possibly damaging	Het
Cstf2t	T	A	19: 31,083,299	N78K	probably damaging	Het
Cul1	A	G	6: 47,502,415		probably benign	Het
D430041D05Rik	T	G	2: 104,249,157	T1194P	probably damaging	Het
Fbp2	A	T	13: 62,854,048	F118I	probably damaging	Het
Fbxw14	A	T	9: 109,287,592	Y16*	probably null	Het
Fgd3	T	G	13: 49,296,425	D116A	possibly damaging	Het
Gm7168	C	T	17: 13,949,859	T496I	probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Klhl5	T	A	5: 65,141,288	S137T	probably benign	Het
Knl1	T	A	2: 119,076,243	N1604K	probably benign	Het
Lpcat1	T	A	13: 73,514,466	N463K	probably damaging	Het
Lpl	A	G	8: 68,892,704	H120R	probably damaging	Het
Mcc	C	G	18: 44,519,516		probably benign	Het
Myo18a	G	T	11: 77,847,344	R1704L	probably damaging	Het
Nlrc3	G	T	16: 3,964,087	T486K	possibly damaging	Het
Nrip1	T	A	16: 76,294,670		probably benign	Het
Nutf2	A	G	8: 105,878,809	D92G	probably damaging	Het
Obscn	A	C	11: 59,027,466	V6260G	probably damaging	Het
Olfr320	G	A	11: 58,684,475	V201M	probably benign	Het
Olfr714	T	C	7: 107,074,280	F151L	probably benign	Het
Plce1	T	C	19: 38,780,784		probably null	Het
Pmpca	C	A	2: 26,395,507	D498E	probably benign	Het
Pnpla7	G	T	2: 24,997,227	E28*	probably null	Het
Polg	C	A	7: 79,461,884	W206C	probably damaging	Het
Ptprt	C	T	2: 161,927,791		probably benign	Het
Slc7a14	T	C	3: 31,227,060	D367G	probably damaging	Het
Spata31	T	C	13: 64,922,098	Y687H	probably damaging	Het
Sybu	T	A	15: 44,672,993	T646S	probably benign	Het
Thbs1	A	T	2: 118,123,914		probably null	Het
Tie1	A	G	4: 118,489,701	V2A	possibly damaging	Het
Tma16	A	T	8: 66,476,805	I179K	possibly damaging	Het
Tns3	G	A	11: 8,435,856	Q1381*	probably null	Het
Trank1	A	G	9: 111,343,195	D84G	probably damaging	Het
Ttc3	A	T	16: 94,422,247	H197L	possibly damaging	Het
Urb1	A	G	16: 90,779,140	F843L	probably benign	Het
Vmn1r24	T	G	6: 57,956,018	I172L	probably benign	Het
Vmn2r1	T	A	3: 64,104,788	I690N	possibly damaging	Het
Vmn2r111	T	A	17: 22,572,072	I82L	probably benign	Het
Zfp287	A	T	11: 62,714,938	L370H	possibly damaging	Het
Zfp608	A	T	18: 54,898,816	I684N	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
IGL02441:Man1a2	APN	3	100591873	missense	probably benign	0.01
R0043:Man1a2	UTSW	3	100587880	missense	probably damaging	1.00
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
R9621:Man1a2	UTSW	3	100684645	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ccactgcccATTACATTTCTTTATTCAAAGAC -3'
(R):5'- GACACGTATTTTGTTGTACTCCTACTTGACT -3'

Sequencing Primer
(F):5'- ATGTGTAGGCTCAAGCCATC -3'
(R):5'- CATGCCACTATGATTAACTGATCTG -3'

Posted On

2013-05-09