Mutagenetix > Incidental Mutations

Incidental Mutation 'R6084:Man1a'

482405

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

044243-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.713) question?

Stock #

R6084 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53904785-54076609 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53919211 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 649 (W649R)

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: W558R

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

SMART Domains

Protein: ENSMUSP00000003843
Gene: ENSMUSG00000003746
AA Change: W558R

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: W558R

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

SMART Domains

Protein: ENSMUSP00000101110
Gene: ENSMUSG00000003746
AA Change: W558R

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: W649R

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	T	C	5: 62,670,954	D958G	possibly damaging	Het
Bag4	T	C	8: 25,771,231	T161A	probably benign	Het
Bora	A	T	14: 99,062,294	Q234L	possibly damaging	Het
Cacna2d2	T	C	9: 107,497,521		probably null	Het
Cass4	G	T	2: 172,426,912	A307S	probably benign	Het
Cbln4	A	T	2: 172,042,096	V68E	probably damaging	Het
Cc2d2a	T	A	5: 43,668,673	N2K	probably benign	Het
Ccnf	T	A	17: 24,231,837	D389V	probably damaging	Het
Cdipt	T	C	7: 126,979,601	S161P	probably benign	Het
Ceacam19	T	C	7: 19,882,887	I161V	probably benign	Het
Cfap65	A	G	1: 74,920,405	I862T	probably damaging	Het
Cfi	T	A	3: 129,858,370	L230Q	probably benign	Het
Chac2	G	A	11: 30,986,159	R30W	probably damaging	Het
Cmc2	G	A	8: 116,889,827		probably benign	Het
Col1a2	A	T	6: 4,505,840	M1L	probably benign	Het
Cox8a	C	A	19: 7,217,418	R32L	possibly damaging	Het
Cubn	T	A	2: 13,430,897	N1083Y	probably damaging	Het
D430042O09Rik	G	A	7: 125,814,865	G394R	probably benign	Het
D630003M21Rik	T	C	2: 158,217,584	D132G	probably damaging	Het
Dedd2	G	A	7: 25,211,290	P154S	probably benign	Het
Dnaaf3	T	C	7: 4,524,213	D358G	probably benign	Het
Dysf	T	A	6: 84,019,604	F29L	probably damaging	Het
Dysf	T	C	6: 84,112,119	L888P	probably damaging	Het
Ebf4	A	G	2: 130,309,723	D277G	probably damaging	Het
Ecm2	T	A	13: 49,515,094	L91*	probably null	Het
Foxs1	T	C	2: 152,932,842	D97G	possibly damaging	Het
Frs2	A	C	10: 117,076,809		probably null	Het
Gm6768	A	G	12: 119,261,651		noncoding transcript	Het
Grp	A	T	18: 65,879,937	D58V	probably damaging	Het
Hif1a	T	G	12: 73,941,842	F537C	probably damaging	Het
Icam4	G	A	9: 21,029,539	S29N	probably benign	Het
Itfg1	T	C	8: 85,726,170	E523G	probably benign	Het
Jph2	T	C	2: 163,375,680	K359E	probably damaging	Het
Kcnq2	A	T	2: 181,087,656	V490E	possibly damaging	Het
Klhl18	C	T	9: 110,428,727	M548I	possibly damaging	Het
Lpin3	A	G	2: 160,895,801	Y197C	probably benign	Het
Lrp1	T	C	10: 127,560,553	N2381D	probably benign	Het
Map4	T	C	9: 110,064,292	L542P	probably damaging	Het
Mboat2	A	T	12: 24,878,285	H52L	probably damaging	Het
Mok	C	G	12: 110,814,946	S91T	probably benign	Het
Mtmr11	G	T	3: 96,168,084	R360L	probably damaging	Het
Myt1l	G	A	12: 29,832,332	G509R	unknown	Het
Olfr1288	A	T	2: 111,479,389	N202Y	probably damaging	Het
Olfr341	A	G	2: 36,479,512	V206A	probably benign	Het
Olfr544	T	C	7: 102,484,389	T244A	probably damaging	Het
Olfr67	C	T	7: 103,787,955	M107I	probably benign	Het
Olfr836	A	G	9: 19,121,327	D121G	probably damaging	Het
Olfr867	A	T	9: 20,054,883	H75Q	possibly damaging	Het
Padi3	G	T	4: 140,795,843	T292N	probably damaging	Het
Pard6g	A	C	18: 80,117,205	T178P	possibly damaging	Het
Pkd1l2	A	T	8: 117,013,987	Y2124N	probably damaging	Het
Plxdc1	G	A	11: 97,928,463	T398I	probably damaging	Het
Prickle2	A	T	6: 92,416,848	C225*	probably null	Het
Prmt2	G	A	10: 76,210,444	T317I	probably benign	Het
Psg22	T	G	7: 18,719,780	N172K	probably benign	Het
Ptpn9	C	T	9: 57,033,163	R196*	probably null	Het
Rap1b	C	T	10: 117,824,611	V14I	probably damaging	Het
Rapgef4	T	A	2: 72,196,278		probably null	Het
Rlf	A	T	4: 121,149,215	M856K	possibly damaging	Het
Rnf149	A	G	1: 39,577,174	L34P	probably benign	Het
Rock1	T	C	18: 10,101,007	E636G	probably benign	Het
Rsad2	A	T	12: 26,454,123	Y136N	probably damaging	Het
Ryr3	T	C	2: 112,908,493	H563R	probably damaging	Het
Slc18b1	A	G	10: 23,804,212	M102V	probably benign	Het
Slc34a2	T	A	5: 53,067,647	C377S	possibly damaging	Het
Slco1c1	T	C	6: 141,546,770	V293A	probably benign	Het
Spidr	A	T	16: 16,140,024	S80T	possibly damaging	Het
Syne1	C	T	10: 5,348,994	E1031K	probably damaging	Het
Synj2	G	A	17: 6,017,614	V121I	probably damaging	Het
Synj2	A	T	17: 6,038,098	T1430S	probably damaging	Het
Tecpr2	G	T	12: 110,929,109	K343N	probably damaging	Het
Tmem132d	T	A	5: 127,784,100	I986F	probably benign	Het
Trib1	G	A	15: 59,654,475	R298H	probably damaging	Het
Ttll10	T	A	4: 156,045,357	D283V	probably benign	Het
Ttn	T	A	2: 76,814,779	K673*	probably null	Het
Ubqlnl	T	A	7: 104,148,698	M531L	probably benign	Het
Vmn2r120	A	T	17: 57,525,721	W153R	probably benign	Het
Vmn2r2	A	C	3: 64,117,046	S705A	probably benign	Het
Vmn2r32	T	A	7: 7,464,210	D773V	probably benign	Het
Vmn2r54	T	A	7: 12,632,278	Q243L	probably damaging	Het
Wdr24	C	A	17: 25,824,530	R109S	probably damaging	Het
Zfp113	T	C	5: 138,145,668	M107V	probably benign	Het
Zfp426	G	T	9: 20,470,627	Q341K	possibly damaging	Het
Zfp616	A	T	11: 74,083,846	K314*	probably null	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
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
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
Z1176:Man1a	UTSW	10	53919315	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGAGCGGAATGACCTTGATAAAG -3'
(R):5'- GTATGGTGTGTCTAACTAGCCC -3'

Posted On

2017-07-14