Mutagenetix > Incidental Mutation

Incidental Mutation 'R0046:Man1a'

43723

Institutional Source

Beutler Lab

Gene Symbol

Man1a

Ensembl Gene

ENSMUSG00000003746

Gene Name

mannosidase 1, alpha

Synonyms

mannosyl-oligosaccharide alpha-1,2-mannosidase, PCR1

MMRRC Submission

038340-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.776) question?

Stock #

R0046 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53904785-54076609 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53919187 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 657 (Y657H)

Ref Sequence

ENSEMBL: ENSMUSP00000151568 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003843] [ENSMUST00000105470] [ENSMUST00000218317] [ENSMUST00000220088]

AlphaFold

P45700

Predicted Effect

probably damaging
Transcript: ENSMUST00000003843
AA Change: Y566H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000003843
Gene: ENSMUSG00000003746
AA Change: Y566H

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
transmembrane domain	44	66	N/A	INTRINSIC
coiled coil region	116	151	N/A	INTRINSIC
Pfam:Glyco_hydro_47	204	642	4.6e-150	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000105470
AA Change: Y566H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101110
Gene: ENSMUSG00000003746
AA Change: Y566H

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
transmembrane domain	44	66	N/A	INTRINSIC
coiled coil region	116	151	N/A	INTRINSIC
Pfam:Glyco_hydro_47	204	642	4.5e-153	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000218317

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219234

Predicted Effect

probably damaging
Transcript: ENSMUST00000220088
AA Change: Y657H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.9714

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.7%
20x: 93.3%

Validation Efficiency

100% (83/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a class I mammalian Golgi 1,2-mannosidase which is a type II transmembrane protein. This protein catalyzes the hydrolysis of three terminal mannose residues from peptide-bound Man(9)-GlcNAc(2) oligosaccharides and belongs to family 47 of glycosyl hydrolases. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	A	T	4: 56,743,877	K135*	probably null	Het
Adamts16	A	G	13: 70,763,460	S871P	probably benign	Het
Adcy10	A	T	1: 165,539,834	I558F	probably damaging	Het
Adsl	T	G	15: 80,962,788		probably null	Het
Aldob	T	C	4: 49,543,842	I47V	possibly damaging	Het
Alkbh8	A	G	9: 3,343,247	E46G	probably damaging	Het
Ankrd33b	G	A	15: 31,367,337	P19L	probably damaging	Het
Apoa5	T	C	9: 46,269,998	L124S	probably damaging	Het
Atp1a4	A	T	1: 172,240,097	L533Q	probably benign	Het
Atp7b	T	C	8: 22,059,995	T9A	probably benign	Het
Auh	G	A	13: 52,929,385		probably benign	Het
B3gnt3	T	C	8: 71,692,923	Y267C	probably damaging	Het
BC051142	T	C	17: 34,460,121		probably null	Het
Card11	T	C	5: 140,908,524	T117A	possibly damaging	Het
Ccdc39	A	G	3: 33,844,152	F15L	possibly damaging	Het
Chtf18	C	T	17: 25,723,460	R468Q	probably benign	Het
Cntnap5c	T	G	17: 58,359,300	D1108E	probably benign	Het
Col14a1	G	A	15: 55,408,963		probably benign	Het
Col6a6	C	T	9: 105,748,848		probably benign	Het
Col9a3	G	A	2: 180,609,487	A317T	possibly damaging	Het
Cpt1c	A	T	7: 44,959,832		probably benign	Het
Cpt2	A	G	4: 107,904,362		probably null	Het
Crebrf	T	A	17: 26,763,334	L565M	probably damaging	Het
Cyp2d41-ps	T	A	15: 82,782,035		noncoding transcript	Het
Dhx9	C	T	1: 153,472,707	V291M	probably benign	Het
Dmxl1	T	A	18: 49,878,082	V1102E	probably benign	Het
Dnah7a	A	T	1: 53,456,874		probably null	Het
Dock4	G	A	12: 40,737,360		probably benign	Het
Dpp3	G	T	19: 4,914,643	N545K	probably damaging	Het
Elmo2	T	A	2: 165,298,726	N275I	probably damaging	Het
Farp1	A	G	14: 121,255,513	K509R	probably benign	Het
Fat3	T	C	9: 15,965,979	Y3446C	possibly damaging	Het
Fgd2	T	A	17: 29,374,990		probably benign	Het
Flg	T	A	3: 93,277,721		probably benign	Het
Gas2l2	A	T	11: 83,421,910	W859R	probably damaging	Het
Gatm	T	C	2: 122,600,744	D254G	probably damaging	Het
Gjd4	T	A	18: 9,280,998	I27F	probably damaging	Het
Gsdmc2	C	A	15: 63,827,755		probably benign	Het
Haus5	C	T	7: 30,654,180	V591I	probably benign	Het
Kcnab3	G	A	11: 69,330,227		probably null	Het
Khdrbs2	A	G	1: 32,619,202	D281G	possibly damaging	Het
Krt86	A	T	15: 101,477,402	M393L	probably benign	Het
Limk1	T	C	5: 134,672,761	Y96C	probably damaging	Het
Lrp2bp	T	A	8: 46,013,155	Y100*	probably null	Het
Mamstr	T	G	7: 45,641,770		probably benign	Het
Marf1	G	A	16: 14,111,727	P1672S	possibly damaging	Het
Mboat7	T	C	7: 3,683,818	Y341C	probably damaging	Het
Nhsl1	A	T	10: 18,525,669	N881I	probably damaging	Het
Nox3	T	C	17: 3,682,961	Y225C	probably benign	Het
Nrp1	C	T	8: 128,500,608		probably benign	Het
Olfr1080	A	G	2: 86,553,632	F164S	probably damaging	Het
Olfr1214	C	T	2: 88,987,349	M284I	probably benign	Het
Olfr1260	C	T	2: 89,978,507	T243I	probably damaging	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr742	T	A	14: 50,516,139	*312K	probably null	Het
Pcdhb13	A	T	18: 37,444,257	M563L	probably benign	Het
Pclo	C	T	5: 14,540,479	T931M	unknown	Het
Peli2	C	T	14: 48,121,202	P16S	possibly damaging	Het
Pfas	G	T	11: 68,990,467	R1025S	probably benign	Het
Pik3c2a	A	T	7: 116,354,072	I1196N	probably damaging	Het
Pmfbp1	A	T	8: 109,535,985		probably benign	Het
Prg4	T	C	1: 150,456,086	T279A	possibly damaging	Het
Psma1	A	T	7: 114,267,205		probably benign	Het
Rab11fip1	A	G	8: 27,153,121	L550P	probably damaging	Het
Rgs12	T	A	5: 34,965,320	I149N	probably damaging	Het
Rmnd5a	T	C	6: 71,399,231	H195R	probably damaging	Het
Rnf17	T	C	14: 56,471,373	L750P	probably damaging	Het
Rtcb	T	C	10: 85,957,656	N18D	probably benign	Het
Seh1l	T	C	18: 67,792,016		probably null	Het
Sis	T	G	3: 72,932,094	N813T	probably benign	Het
Sptbn2	T	C	19: 4,745,377		probably benign	Het
Stag3	C	T	5: 138,283,023		probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Taok3	C	T	5: 117,272,229	Q829*	probably null	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Ttn	A	G	2: 76,951,542		probably benign	Het
Unc79	A	G	12: 103,125,681	E1756G	probably damaging	Het
Usp35	A	T	7: 97,313,597		probably null	Het
Vmn2r111	A	G	17: 22,548,009	F836L	probably benign	Het
Vmn2r77	A	G	7: 86,801,938	D344G	possibly damaging	Het
Zbtb40	A	G	4: 136,987,278	C1067R	probably damaging	Het

Other mutations in Man1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01111:Man1a	APN	10	53977013	splice site	probably benign
IGL01146:Man1a	APN	10	53907519	missense	possibly damaging	0.90
IGL01412:Man1a	APN	10	54074714	missense	probably benign	0.00
IGL02009:Man1a	APN	10	53925525	missense	probably damaging	1.00
IGL02026:Man1a	APN	10	54014473	missense	probably damaging	1.00
IGL02745:Man1a	APN	10	53977110	missense	probably damaging	0.99
IGL02851:Man1a	APN	10	53919244	missense	probably damaging	1.00
IGL02929:Man1a	APN	10	53925435	missense	probably benign	0.00
R0046:Man1a	UTSW	10	53919187	missense	probably damaging	1.00
R0101:Man1a	UTSW	10	54075024	start codon destroyed	probably null
R0200:Man1a	UTSW	10	54074498	missense	probably damaging	0.96
R0463:Man1a	UTSW	10	54074498	missense	probably damaging	0.96
R0947:Man1a	UTSW	10	53933523	nonsense	probably null
R1219:Man1a	UTSW	10	53919153	splice site	probably benign
R1876:Man1a	UTSW	10	53919172	missense	probably damaging	1.00
R2142:Man1a	UTSW	10	53934998	missense	probably damaging	1.00
R2219:Man1a	UTSW	10	53977049	missense	probably damaging	0.99
R3117:Man1a	UTSW	10	54030794	missense	probably damaging	0.97
R3119:Man1a	UTSW	10	54030794	missense	probably damaging	0.97
R4727:Man1a	UTSW	10	53907572	splice site	probably null
R4942:Man1a	UTSW	10	53933490	critical splice donor site	probably null
R5493:Man1a	UTSW	10	54074480	missense	probably benign	0.25
R5921:Man1a	UTSW	10	53907510	missense	probably damaging	0.97
R5965:Man1a	UTSW	10	53933490	critical splice donor site	probably benign
R6084:Man1a	UTSW	10	53919211	missense	probably damaging	1.00
R6199:Man1a	UTSW	10	54014456	missense	possibly damaging	0.70
R6362:Man1a	UTSW	10	54074795	missense	probably benign	0.25
R6543:Man1a	UTSW	10	53934981	nonsense	probably null
R6711:Man1a	UTSW	10	53933492	missense	probably benign	0.00
R6982:Man1a	UTSW	10	54074723	missense	possibly damaging	0.92
R7061:Man1a	UTSW	10	53920235	missense	probably damaging	1.00
R7063:Man1a	UTSW	10	54030744	missense	probably damaging	1.00
R7220:Man1a	UTSW	10	53920235	missense	possibly damaging	0.95
R7361:Man1a	UTSW	10	53908009	missense	probably damaging	1.00
R7392:Man1a	UTSW	10	53919187	missense	probably damaging	1.00
R7566:Man1a	UTSW	10	53919234	missense	possibly damaging	0.93
R7864:Man1a	UTSW	10	54030747	missense	possibly damaging	0.88
R8338:Man1a	UTSW	10	53925547	critical splice acceptor site	probably null
R9294:Man1a	UTSW	10	53933491	critical splice donor site	probably null
R9590:Man1a	UTSW	10	53907964	missense	probably damaging	1.00
R9629:Man1a	UTSW	10	53920062	missense	probably damaging	1.00
Z1176:Man1a	UTSW	10	53919315	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATCTAGAAGCTGTCCAGCATCCC -3'
(R):5'- TCAAGGTCCTACCCTTGTTCAGGAG -3'

Sequencing Primer
(F):5'- TCGACACAGTGAATTAGCCG -3'
(R):5'- CAGGAGGTAACCCTTGTTAACTG -3'

Posted On

2013-05-29