Mutagenetix > Incidental Mutation

Incidental Mutation 'R5921:Man1a'

461588

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

044118-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.825) question?

Stock #

R5921 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53780881-53952705 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53783606 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 632 (I632T)

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: I632T

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000003843
Gene: ENSMUSG00000003746
AA Change: I632T

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: I632T

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101110
Gene: ENSMUSG00000003746
AA Change: I632T

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

possibly damaging
Transcript: ENSMUST00000220088
AA Change: I723T

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)

Meta Mutation Damage Score

0.5323

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.7%

Validation Efficiency

95% (70/74)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	G	A	5: 35,969,555 (GRCm39)	V223M	probably damaging	Het
Adamts7	T	C	9: 90,070,747 (GRCm39)	S623P	probably benign	Het
Aqp7	G	T	4: 41,036,093 (GRCm39)	N48K	probably benign	Het
Asic4	A	G	1: 75,428,017 (GRCm39)	N181S	probably benign	Het
Blvra	A	T	2: 126,929,283 (GRCm39)		probably benign	Het
Bmf	C	A	2: 118,363,034 (GRCm39)		probably benign	Het
Bnc2	A	T	4: 84,211,292 (GRCm39)	I454N	possibly damaging	Het
Catsperg1	A	T	7: 28,889,948 (GRCm39)	L700H	possibly damaging	Het
Ccdc14	T	C	16: 34,526,761 (GRCm39)	V222A	probably damaging	Het
Cfap97d2	G	T	8: 13,784,840 (GRCm39)	A34S	probably damaging	Het
Clstn3	A	T	6: 124,408,539 (GRCm39)		probably benign	Het
Col15a1	A	T	4: 47,300,602 (GRCm39)	I1066F	probably damaging	Het
Dcdc2c	T	C	12: 28,574,774 (GRCm39)	E116G	possibly damaging	Het
Dop1a	G	A	9: 86,383,975 (GRCm39)	S310N	probably damaging	Het
Dync1h1	T	A	12: 110,584,802 (GRCm39)	V735E	probably damaging	Het
Eva1a	T	C	6: 82,069,140 (GRCm39)	Y156H	probably damaging	Het
Fbxw26	A	G	9: 109,575,086 (GRCm39)	I13T	probably damaging	Het
Fermt2	A	T	14: 45,702,203 (GRCm39)	L527Q	probably damaging	Het
Fxyd4	G	A	6: 117,913,099 (GRCm39)		probably benign	Het
Gal	A	G	19: 3,460,100 (GRCm39)	S124P	probably damaging	Het
Glmp	T	C	3: 88,233,283 (GRCm39)	S56P	probably benign	Het
Gm5600	T	C	7: 113,307,413 (GRCm39)		noncoding transcript	Het
Golga2	A	G	2: 32,187,767 (GRCm39)	N194S	probably benign	Het
Gon4l	T	C	3: 88,817,254 (GRCm39)		probably benign	Het
Gtf2ird2	T	A	5: 134,246,426 (GRCm39)	Y895N	probably damaging	Het
Hsd3b1	C	A	3: 98,765,215 (GRCm39)	M22I	probably benign	Het
Ipo13	A	C	4: 117,769,286 (GRCm39)	L169V	probably benign	Het
Kif13a	G	T	13: 46,978,776 (GRCm39)	T208K	probably damaging	Het
Klhl5	G	T	5: 65,320,299 (GRCm39)	A618S	probably damaging	Het
Lrig2	A	T	3: 104,370,070 (GRCm39)	L496*	probably null	Het
Macf1	A	G	4: 123,420,504 (GRCm39)	I250T	probably benign	Het
Nav2	A	G	7: 48,954,324 (GRCm39)		probably benign	Het
Nek8	A	G	11: 78,063,885 (GRCm39)	M40T	probably damaging	Het
Oas3	T	C	5: 120,908,046 (GRCm39)	D298G	probably damaging	Het
Ociad1	A	G	5: 73,467,725 (GRCm39)	D167G	probably benign	Het
Or14j4	A	T	17: 37,921,110 (GRCm39)	C177*	probably null	Het
Or8s5	T	C	15: 98,238,310 (GRCm39)	T187A	probably benign	Het
Or9s13	T	A	1: 92,548,344 (GRCm39)	S239T	probably benign	Het
Pafah2	G	T	4: 134,145,380 (GRCm39)	V255L	probably benign	Het
Pde10a	A	G	17: 9,149,369 (GRCm39)	Y407C	probably damaging	Het
Pirb	A	C	7: 3,719,693 (GRCm39)	Y484*	probably null	Het
Prl8a6	A	G	13: 27,621,171 (GRCm39)	S20P	probably damaging	Het
R3hdm4	A	T	10: 79,749,453 (GRCm39)	V52E	probably damaging	Het
Rab3ip	A	G	10: 116,775,152 (GRCm39)	Y69H	probably damaging	Het
Rxrg	T	C	1: 167,466,808 (GRCm39)	M330T	possibly damaging	Het
Sema4g	G	T	19: 44,987,143 (GRCm39)	G460V	probably benign	Het
Sidt1	T	C	16: 44,094,098 (GRCm39)		probably benign	Het
Slc12a2	T	A	18: 58,065,595 (GRCm39)	D943E	probably benign	Het
Slc12a4	T	C	8: 106,671,876 (GRCm39)		probably null	Het
Slc4a3	T	G	1: 75,534,088 (GRCm39)		probably null	Het
Slc4a8	C	T	15: 100,712,328 (GRCm39)		probably benign	Het
Srcap	T	A	7: 127,158,005 (GRCm39)		probably benign	Het
Stk39	A	G	2: 68,196,449 (GRCm39)	S327P	probably damaging	Het
Tbc1d5	G	A	17: 51,270,721 (GRCm39)	T170M	probably damaging	Het
Trim13	T	A	14: 61,842,538 (GRCm39)	F185Y	probably benign	Het
Ttc17	A	G	2: 94,209,193 (GRCm39)	V87A	probably damaging	Het
Ttn	A	T	2: 76,551,207 (GRCm39)	M31395K	possibly damaging	Het
Usp34	T	A	11: 23,414,686 (GRCm39)	D2876E	probably damaging	Het
Uvssa	T	C	5: 33,547,096 (GRCm39)	S221P	probably benign	Het
Vmn2r93	T	A	17: 18,546,030 (GRCm39)	L634Q	probably damaging	Het
Vmp1	C	T	11: 86,477,336 (GRCm39)	A355T	probably benign	Het
Xpo5	A	T	17: 46,532,347 (GRCm39)	M461L	probably benign	Het
Zfp759	T	A	13: 67,288,558 (GRCm39)	F703Y	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
R1876:Man1a	UTSW	10	53,795,268 (GRCm39)	missense	probably damaging	1.00
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
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'- GACGTTTGCCAATCAATAAGAGTTC -3'
(R):5'- TGGTTCTCATAGTCTAGCACCC -3'

Sequencing Primer
(F):5'- GAGTTCATCATATGTCTGATTACCAG -3'
(R):5'- CAACACCATGTTAAGGTCTATGGGTG -3'

Posted On

2017-02-28