Mutagenetix > Incidental Mutation

Incidental Mutation 'R1876:Man1a'

211244

Institutional Source

Beutler Lab

Gene Symbol

Man1a

Ensembl Gene

ENSMUSG00000003746

Gene Name

mannosidase 1, alpha

Synonyms

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

MMRRC Submission

039898-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.825) question?

Stock #

R1876 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53780881-53952705 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53795268 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 571 (W571R)

Ref Sequence

ENSEMBL: ENSMUSP00000101110 (fasta)

Gene Model

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

AlphaFold

P45700

Predicted Effect

probably damaging
Transcript: ENSMUST00000003843
AA Change: W571R

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

SMART Domains

Protein: ENSMUSP00000003843
Gene: ENSMUSG00000003746
AA Change: W571R

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: W571R

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

SMART Domains

Protein: ENSMUSP00000101110
Gene: ENSMUSG00000003746
AA Change: W571R

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: W662R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Meta Mutation Damage Score

0.9531

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.2%

Validation Efficiency

99% (82/83)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	A	5: 77,025,396 (GRCm39)	C961F	probably damaging	Het
Abca16	A	C	7: 120,032,608 (GRCm39)	D209A	probably damaging	Het
Adamts14	T	C	10: 61,036,151 (GRCm39)	I1047V	probably benign	Het
Ak1	A	G	2: 32,520,282 (GRCm39)	K27E	probably damaging	Het
Akap9	T	A	5: 4,011,809 (GRCm39)	D837E	probably benign	Het
Arfgef3	T	C	10: 18,473,104 (GRCm39)	Y1653C	probably damaging	Het
Atad2	T	G	15: 57,970,264 (GRCm39)	I446L	probably benign	Het
Atp8b3	T	G	10: 80,365,912 (GRCm39)	T313P	possibly damaging	Het
Btg4	T	C	9: 51,028,489 (GRCm39)	L72S	probably damaging	Het
Canx	A	G	11: 50,195,186 (GRCm39)	I294T	probably damaging	Het
Casp1	G	A	9: 5,303,663 (GRCm39)	E250K	probably benign	Het
Chchd10	T	A	10: 75,772,166 (GRCm39)	S46T	probably benign	Het
Col12a1	G	T	9: 79,585,563 (GRCm39)	Y1271*	probably null	Het
Col3a1	G	A	1: 45,381,395 (GRCm39)		probably null	Het
Ctc1	A	T	11: 68,922,390 (GRCm39)	T872S	probably benign	Het
Cx3cl1	T	C	8: 95,507,048 (GRCm39)	F351S	probably damaging	Het
Cyb5r4	T	A	9: 86,937,867 (GRCm39)	H295Q	probably damaging	Het
Cyp2j7	T	C	4: 96,105,656 (GRCm39)	T285A	probably benign	Het
Dip2a	G	A	10: 76,153,925 (GRCm39)	T135M	probably damaging	Het
Eif1ad18	T	G	12: 88,050,810 (GRCm39)	I115S	probably damaging	Het
Fgf10	A	G	13: 118,925,695 (GRCm39)	E158G	probably damaging	Het
Ftcd	G	T	10: 76,417,403 (GRCm39)	A281S	probably benign	Het
Gpat4	A	T	8: 23,669,486 (GRCm39)	M333K	possibly damaging	Het
Gpcpd1	A	G	2: 132,376,673 (GRCm39)	L541P	probably damaging	Het
Grk5	T	C	19: 61,071,663 (GRCm39)	Y408H	probably damaging	Het
Hcrtr2	A	G	9: 76,153,627 (GRCm39)		probably null	Het
Hsd17b13	T	A	5: 104,116,633 (GRCm39)	N127I	probably damaging	Het
Hspa4	T	G	11: 53,174,983 (GRCm39)	D158A	probably benign	Het
Ice2	G	A	9: 69,322,857 (GRCm39)	A451T	possibly damaging	Het
Inpp5e	A	T	2: 26,298,169 (GRCm39)	I144K	possibly damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lrrc49	T	C	9: 60,495,060 (GRCm39)	I652V	possibly damaging	Het
Mecom	A	G	3: 30,047,807 (GRCm39)	S32P	probably damaging	Het
Mrpl40	A	G	16: 18,691,224 (GRCm39)	I162T	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mtmr12	T	C	15: 12,257,716 (GRCm39)	W265R	probably damaging	Het
Mup21	C	T	4: 62,067,663 (GRCm39)	V79I	probably benign	Het
Myh11	G	A	16: 14,086,967 (GRCm39)		probably benign	Het
Myom3	T	A	4: 135,506,711 (GRCm39)	F495I	probably benign	Het
Ncoa7	A	T	10: 30,574,122 (GRCm39)		probably benign	Het
Nisch	T	C	14: 30,895,594 (GRCm39)	Y45C	probably damaging	Het
Nkain2	T	A	10: 32,766,435 (GRCm39)		probably benign	Het
Or1ak2	A	T	2: 36,827,775 (GRCm39)	I215F	possibly damaging	Het
Or4k1	A	G	14: 50,377,629 (GRCm39)	S156P	probably damaging	Het
Pdcl	A	C	2: 37,245,708 (GRCm39)	H98Q	probably damaging	Het
Pink1	A	G	4: 138,043,013 (GRCm39)	V427A	probably damaging	Het
Plce1	T	C	19: 38,769,067 (GRCm39)	S2242P	probably damaging	Het
Plrg1	C	A	3: 82,976,375 (GRCm39)		probably benign	Het
Plxnc1	A	G	10: 94,702,803 (GRCm39)	F586S	possibly damaging	Het
Pnpla7	G	A	2: 24,930,985 (GRCm39)	V867M	possibly damaging	Het
Ppfia3	T	A	7: 45,001,631 (GRCm39)	D427V	possibly damaging	Het
Ppp6r3	A	T	19: 3,521,971 (GRCm39)		probably benign	Het
Pros1	A	T	16: 62,723,881 (GRCm39)	S210C	probably damaging	Het
Ptk2b	A	G	14: 66,395,841 (GRCm39)	S839P	probably benign	Het
Ptpre	T	C	7: 135,280,046 (GRCm39)	V570A	possibly damaging	Het
Rbm48	C	T	5: 3,645,259 (GRCm39)	A142T	probably damaging	Het
Safb2	T	C	17: 56,883,909 (GRCm39)		probably null	Het
Scnn1a	A	G	6: 125,315,801 (GRCm39)	E384G	probably benign	Het
Sec23ip	A	G	7: 128,354,575 (GRCm39)	Y277C	probably benign	Het
Slc25a29	G	A	12: 108,793,637 (GRCm39)	T42M	probably damaging	Het
Slc6a4	A	T	11: 76,905,990 (GRCm39)	T264S	probably benign	Het
Srgap3	A	G	6: 112,752,527 (GRCm39)	M319T	probably damaging	Het
Strn4	T	A	7: 16,572,207 (GRCm39)	I640N	probably damaging	Het
Tacc2	A	G	7: 130,225,475 (GRCm39)	D739G	probably benign	Het
Tigd4	T	A	3: 84,501,242 (GRCm39)	L53*	probably null	Het
Tlr6	T	A	5: 65,112,763 (GRCm39)	D48V	probably damaging	Het
Tmem125	T	C	4: 118,399,101 (GRCm39)	D110G	probably damaging	Het
Tmem198	A	G	1: 75,461,567 (GRCm39)	D341G	probably damaging	Het
Tnfaip3	A	G	10: 18,880,682 (GRCm39)	F462L	possibly damaging	Het
Tnrc6a	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	7: 122,761,669 (GRCm39)		probably benign	Het
Ush2a	T	A	1: 188,410,486 (GRCm39)	I2378N	possibly damaging	Het
Usp47	A	G	7: 111,654,127 (GRCm39)	T108A	probably damaging	Het
Vmn1r236	T	A	17: 21,506,900 (GRCm39)	I6K	probably benign	Het
Vmn2r65	A	T	7: 84,595,505 (GRCm39)	V393D	probably damaging	Het

Other mutations in Man1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01111:Man1a	APN	10	53,853,109 (GRCm39)	splice site	probably benign
IGL01146:Man1a	APN	10	53,783,615 (GRCm39)	missense	possibly damaging	0.90
IGL01412:Man1a	APN	10	53,950,810 (GRCm39)	missense	probably benign	0.00
IGL02009:Man1a	APN	10	53,801,621 (GRCm39)	missense	probably damaging	1.00
IGL02026:Man1a	APN	10	53,890,569 (GRCm39)	missense	probably damaging	1.00
IGL02745:Man1a	APN	10	53,853,206 (GRCm39)	missense	probably damaging	0.99
IGL02851:Man1a	APN	10	53,795,340 (GRCm39)	missense	probably damaging	1.00
IGL02929:Man1a	APN	10	53,801,531 (GRCm39)	missense	probably benign	0.00
R0046:Man1a	UTSW	10	53,795,283 (GRCm39)	missense	probably damaging	1.00
R0046:Man1a	UTSW	10	53,795,283 (GRCm39)	missense	probably damaging	1.00
R0101:Man1a	UTSW	10	53,951,120 (GRCm39)	start codon destroyed	probably null
R0200:Man1a	UTSW	10	53,950,594 (GRCm39)	missense	probably damaging	0.96
R0463:Man1a	UTSW	10	53,950,594 (GRCm39)	missense	probably damaging	0.96
R0947:Man1a	UTSW	10	53,809,619 (GRCm39)	nonsense	probably null
R1219:Man1a	UTSW	10	53,795,249 (GRCm39)	splice site	probably benign
R2142:Man1a	UTSW	10	53,811,094 (GRCm39)	missense	probably damaging	1.00
R2219:Man1a	UTSW	10	53,853,145 (GRCm39)	missense	probably damaging	0.99
R3117:Man1a	UTSW	10	53,906,890 (GRCm39)	missense	probably damaging	0.97
R3119:Man1a	UTSW	10	53,906,890 (GRCm39)	missense	probably damaging	0.97
R4727:Man1a	UTSW	10	53,783,668 (GRCm39)	splice site	probably null
R4942:Man1a	UTSW	10	53,809,586 (GRCm39)	critical splice donor site	probably null
R5493:Man1a	UTSW	10	53,950,576 (GRCm39)	missense	probably benign	0.25
R5921:Man1a	UTSW	10	53,783,606 (GRCm39)	missense	probably damaging	0.97
R5965:Man1a	UTSW	10	53,809,586 (GRCm39)	critical splice donor site	probably benign
R6084:Man1a	UTSW	10	53,795,307 (GRCm39)	missense	probably damaging	1.00
R6199:Man1a	UTSW	10	53,890,552 (GRCm39)	missense	possibly damaging	0.70
R6362:Man1a	UTSW	10	53,950,891 (GRCm39)	missense	probably benign	0.25
R6543:Man1a	UTSW	10	53,811,077 (GRCm39)	nonsense	probably null
R6711:Man1a	UTSW	10	53,809,588 (GRCm39)	missense	probably benign	0.00
R6982:Man1a	UTSW	10	53,950,819 (GRCm39)	missense	possibly damaging	0.92
R7061:Man1a	UTSW	10	53,796,331 (GRCm39)	missense	probably damaging	1.00
R7063:Man1a	UTSW	10	53,906,840 (GRCm39)	missense	probably damaging	1.00
R7220:Man1a	UTSW	10	53,796,331 (GRCm39)	missense	possibly damaging	0.95
R7361:Man1a	UTSW	10	53,784,105 (GRCm39)	missense	probably damaging	1.00
R7392:Man1a	UTSW	10	53,795,283 (GRCm39)	missense	probably damaging	1.00
R7566:Man1a	UTSW	10	53,795,330 (GRCm39)	missense	possibly damaging	0.93
R7864:Man1a	UTSW	10	53,906,843 (GRCm39)	missense	possibly damaging	0.88
R8338:Man1a	UTSW	10	53,801,643 (GRCm39)	critical splice acceptor site	probably null
R9294:Man1a	UTSW	10	53,809,587 (GRCm39)	critical splice donor site	probably null
R9590:Man1a	UTSW	10	53,784,060 (GRCm39)	missense	probably damaging	1.00
R9629:Man1a	UTSW	10	53,796,158 (GRCm39)	missense	probably damaging	1.00
Z1176:Man1a	UTSW	10	53,795,411 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACAGTGAATTAGCCGGAAAC -3'
(R):5'- CCCTTAATCACACTGGGGTTTC -3'

Sequencing Primer
(F):5'- AAACGGGCAGCCCTGAG -3'
(R):5'- GTTCAGGAGGTAACCCTTGTTAAC -3'

Posted On

2014-06-30