Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02097:Man1a2'

279649

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02097

Quality Score

Status

Chromosome

Chromosomal Location

100469519-100592789 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100489447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 511 (K511E)

Ref Sequence

ENSEMBL: ENSMUSP00000008907 (fasta)

Gene Model

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

AlphaFold

P39098

Predicted Effect

possibly damaging
Transcript: ENSMUST00000008907
AA Change: K511E

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000008907
Gene: ENSMUSG00000008763
AA Change: K511E

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: 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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	T	5: 105,109,052 (GRCm39)	V415D	possibly damaging	Het
Adcy3	C	T	12: 4,262,118 (GRCm39)	A1056V	probably damaging	Het
Adcy5	G	A	16: 35,092,468 (GRCm39)	A610T	probably damaging	Het
Arhgap21	G	A	2: 20,884,813 (GRCm39)	T788I	probably benign	Het
Asic1	T	C	15: 99,592,567 (GRCm39)		probably benign	Het
Cdhr4	T	A	9: 107,870,199 (GRCm39)	M68K	probably benign	Het
Cdhr5	G	T	7: 140,849,894 (GRCm39)	T637K	probably damaging	Het
Corin	A	T	5: 72,529,489 (GRCm39)	C289S	probably damaging	Het
Cpne4	T	C	9: 104,563,701 (GRCm39)	V26A	probably damaging	Het
Csmd1	T	C	8: 16,261,773 (GRCm39)	D908G	probably null	Het
Cyp2c29	A	G	19: 39,296,064 (GRCm39)	D126G	probably damaging	Het
Ddx42	G	A	11: 106,129,986 (GRCm39)	S426N	probably benign	Het
Dnah1	C	T	14: 31,026,958 (GRCm39)	V689M	possibly damaging	Het
Dtwd1	A	G	2: 126,006,715 (GRCm39)	T246A	probably damaging	Het
Fbn1	A	T	2: 125,205,889 (GRCm39)	M1036K	probably damaging	Het
Fbxo10	T	C	4: 45,048,527 (GRCm39)	N536S	probably benign	Het
Gnal	G	A	18: 67,350,279 (GRCm39)		probably benign	Het
Gns	A	G	10: 121,226,598 (GRCm39)	T416A	probably benign	Het
Heatr5b	G	A	17: 79,124,943 (GRCm39)	T603I	probably damaging	Het
Hsp90b1	T	A	10: 86,527,548 (GRCm39)		probably benign	Het
Krt23	C	T	11: 99,383,836 (GRCm39)	G19R	probably benign	Het
Lama2	C	T	10: 27,014,956 (GRCm39)	R1584H	probably benign	Het
Lmbr1l	C	T	15: 98,815,772 (GRCm39)	V11M	probably damaging	Het
Mrgpra3	C	A	7: 47,239,204 (GRCm39)	V241F	possibly damaging	Het
Myh3	A	G	11: 66,973,750 (GRCm39)	D141G	probably benign	Het
Mylk2	G	A	2: 152,757,056 (GRCm39)	C277Y	probably damaging	Het
Myo3b	A	T	2: 70,069,173 (GRCm39)	T471S	probably damaging	Het
Naip1	A	G	13: 100,562,096 (GRCm39)	V1023A	probably benign	Het
Olfm5	T	A	7: 103,803,438 (GRCm39)	T342S	probably benign	Het
Or10g1	A	G	14: 52,647,511 (GRCm39)	F273L	probably benign	Het
Or2f1b	T	A	6: 42,739,394 (GRCm39)	M136K	probably damaging	Het
Pglyrp4	T	C	3: 90,642,910 (GRCm39)	F263L	probably benign	Het
Plekhh2	A	T	17: 84,906,608 (GRCm39)	T1148S	possibly damaging	Het
Prrc2b	T	C	2: 32,081,513 (GRCm39)		probably benign	Het
Rbm28	G	T	6: 29,138,617 (GRCm39)	D398E	possibly damaging	Het
Rnf220	A	G	4: 117,130,524 (GRCm39)	F234L	probably benign	Het
Sele	T	C	1: 163,880,662 (GRCm39)	S415P	probably benign	Het
Shpk	T	C	11: 73,094,821 (GRCm39)	L79P	probably damaging	Het
Slc35f4	C	T	14: 49,543,703 (GRCm39)	A148T	probably damaging	Het
Slc6a20a	G	A	9: 123,489,684 (GRCm39)	P120S	possibly damaging	Het
Slc8a2	A	G	7: 15,891,081 (GRCm39)	E701G	possibly damaging	Het
Slco1a1	T	A	6: 141,885,765 (GRCm39)	I87F	possibly damaging	Het
Srebf1	T	G	11: 60,093,650 (GRCm39)	D739A	probably damaging	Het
Thg1l	A	G	11: 45,841,055 (GRCm39)	Y175H	probably benign	Het
Traf3ip2	G	A	10: 39,530,475 (GRCm39)	V540M	probably damaging	Het
Wdr48	A	G	9: 119,753,329 (GRCm39)	D644G	probably damaging	Het
Zbtb1	A	T	12: 76,433,371 (GRCm39)	K452N	probably damaging	Het
Zfhx2	C	T	14: 55,300,351 (GRCm39)	G2467R	probably damaging	Het
Zfp334	A	T	2: 165,223,643 (GRCm39)	Y133*	probably null	Het

Other mutations in Man1a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01987:Man1a2	APN	3	100,551,873 (GRCm39)	missense	probably damaging	1.00
IGL02009:Man1a2	APN	3	100,591,978 (GRCm39)	missense	probably damaging	0.99
IGL02395:Man1a2	APN	3	100,551,853 (GRCm39)	splice site	probably null
IGL02441:Man1a2	APN	3	100,499,189 (GRCm39)	missense	probably benign	0.01
R0043:Man1a2	UTSW	3	100,495,196 (GRCm39)	missense	probably damaging	1.00
R0064:Man1a2	UTSW	3	100,499,199 (GRCm39)	missense	possibly damaging	0.95
R0217:Man1a2	UTSW	3	100,524,353 (GRCm39)	missense	possibly damaging	0.61
R0266:Man1a2	UTSW	3	100,489,350 (GRCm39)	missense	probably damaging	1.00
R0284:Man1a2	UTSW	3	100,592,102 (GRCm39)	missense	probably damaging	0.98
R0633:Man1a2	UTSW	3	100,591,891 (GRCm39)	missense	possibly damaging	0.80
R1074:Man1a2	UTSW	3	100,563,402 (GRCm39)	missense	possibly damaging	0.68
R2167:Man1a2	UTSW	3	100,499,216 (GRCm39)	missense	probably damaging	1.00
R2177:Man1a2	UTSW	3	100,539,847 (GRCm39)	missense	probably damaging	1.00
R3822:Man1a2	UTSW	3	100,539,913 (GRCm39)	missense	possibly damaging	0.48
R4361:Man1a2	UTSW	3	100,563,358 (GRCm39)	missense	probably benign
R4652:Man1a2	UTSW	3	100,539,877 (GRCm39)	missense	probably damaging	1.00
R4871:Man1a2	UTSW	3	100,524,372 (GRCm39)	missense	probably damaging	1.00
R5153:Man1a2	UTSW	3	100,563,579 (GRCm39)	missense	probably damaging	1.00
R5182:Man1a2	UTSW	3	100,554,333 (GRCm39)	missense	probably damaging	0.99
R5201:Man1a2	UTSW	3	100,524,328 (GRCm39)	missense	probably benign
R5251:Man1a2	UTSW	3	100,527,415 (GRCm39)	missense	probably damaging	1.00
R6135:Man1a2	UTSW	3	100,592,248 (GRCm39)	start gained	probably benign
R6793:Man1a2	UTSW	3	100,539,913 (GRCm39)	missense	possibly damaging	0.48
R6886:Man1a2	UTSW	3	100,563,387 (GRCm39)	missense	probably benign	0.00
R7209:Man1a2	UTSW	3	100,554,395 (GRCm39)	missense	unknown
R7224:Man1a2	UTSW	3	100,489,369 (GRCm39)	missense	possibly damaging	0.85
R7308:Man1a2	UTSW	3	100,527,421 (GRCm39)	missense	probably damaging	1.00
R7815:Man1a2	UTSW	3	100,563,495 (GRCm39)	missense	probably damaging	0.99
R7826:Man1a2	UTSW	3	100,489,455 (GRCm39)	missense	probably damaging	1.00
R8427:Man1a2	UTSW	3	100,592,001 (GRCm39)	missense	probably benign	0.18
R9621:Man1a2	UTSW	3	100,591,961 (GRCm39)	missense	probably benign	0.03

Posted On

2015-04-16