Mutagenetix > Incidental Mutation

Incidental Mutation 'R7061:Man1a'

548277

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

045384-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.825) question?

Stock #

R7061 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53780881-53952705 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53796331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 454 (S454P)

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: S454P

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

SMART Domains

Protein: ENSMUSP00000003843
Gene: ENSMUSG00000003746
AA Change: S454P

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: S454P

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

SMART Domains

Protein: ENSMUSP00000101110
Gene: ENSMUSG00000003746
AA Change: S454P

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

probably damaging
Transcript: ENSMUST00000220088
AA Change: S545P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Meta Mutation Damage Score

0.8379

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (68/69)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aard	G	A	15: 51,903,617 (GRCm39)	M13I	probably benign	Het
Abcb5	A	C	12: 118,841,509 (GRCm39)	Y979D	probably damaging	Het
Adgrb1	G	C	15: 74,441,730 (GRCm39)	V4L	probably benign	Het
Ap3b2	C	T	7: 81,110,757 (GRCm39)	R1006Q	unknown	Het
Bpifa6	A	T	2: 153,834,236 (GRCm39)	T343S	probably benign	Het
Celsr3	T	A	9: 108,724,793 (GRCm39)	C2957*	probably null	Het
Chd6	G	A	2: 160,867,885 (GRCm39)	Q428*	probably null	Het
Col5a1	C	A	2: 27,915,690 (GRCm39)	C191*	probably null	Het
Cpox	A	G	16: 58,491,223 (GRCm39)	I145V	possibly damaging	Het
Csnk2a1	C	T	2: 152,116,091 (GRCm39)	R268C	probably benign	Het
Dclk2	A	G	3: 86,739,038 (GRCm39)		probably null	Het
Dennd5a	T	C	7: 109,504,386 (GRCm39)	E909G	probably benign	Het
Depdc1a	T	A	3: 159,228,489 (GRCm39)	S414T	possibly damaging	Het
Dock5	A	G	14: 68,007,703 (GRCm39)	F1502S	probably damaging	Het
Dop1b	G	T	16: 93,558,951 (GRCm39)	A448S	probably benign	Het
Dsg1c	C	A	18: 20,410,066 (GRCm39)	N511K	probably benign	Het
Epc2	G	T	2: 49,425,334 (GRCm39)	R108L	probably damaging	Het
Erp44	T	A	4: 48,219,375 (GRCm39)	I147F	probably benign	Het
Evc	T	C	5: 37,476,446 (GRCm39)	T368A	possibly damaging	Het
Fbxo41	G	T	6: 85,452,448 (GRCm39)	R738S	probably benign	Het
Fli1	T	C	9: 32,335,518 (GRCm39)	T305A	probably damaging	Het
Grk5	A	G	19: 61,034,530 (GRCm39)	T93A	probably benign	Het
Grm2	A	T	9: 106,528,424 (GRCm39)	N153K	probably damaging	Het
Helz	A	G	11: 107,540,003 (GRCm39)	T1007A	possibly damaging	Het
Helz2	A	G	2: 180,882,307 (GRCm39)	L162P	probably damaging	Het
Hmgcr	T	A	13: 96,802,656 (GRCm39)	Q81L	possibly damaging	Het
Hnrnpu	T	C	1: 178,163,691 (GRCm39)	K218E	unknown	Het
Hydin	A	T	8: 111,329,920 (GRCm39)	I4885F	possibly damaging	Het
Ibsp	A	G	5: 104,457,768 (GRCm39)		probably null	Het
Igfals	T	C	17: 25,099,281 (GRCm39)	L124P	probably damaging	Het
Il24	T	A	1: 130,811,108 (GRCm39)	H142L	possibly damaging	Het
Iqca1l	A	G	5: 24,750,063 (GRCm39)	M660T	probably benign	Het
Kcnh2	A	T	5: 24,536,920 (GRCm39)	H221Q	probably benign	Het
Meiosin	A	T	7: 18,834,053 (GRCm39)		probably benign	Het
Mfsd4b1	C	T	10: 39,879,382 (GRCm39)	V172M	possibly damaging	Het
Mical2	T	A	7: 111,946,008 (GRCm39)	I763K	probably benign	Het
Mybpc3	A	G	2: 90,955,749 (GRCm39)	I594M	possibly damaging	Het
Neo1	T	A	9: 58,897,724 (GRCm39)	R77S	possibly damaging	Het
Nlrp6	A	G	7: 140,502,780 (GRCm39)	I265M	probably benign	Het
Or52n5	T	C	7: 104,587,883 (GRCm39)	L50P	probably damaging	Het
Or5bw2	A	G	7: 6,573,782 (GRCm39)	Y264C	probably damaging	Het
Or8b9	T	A	9: 37,766,942 (GRCm39)	V276D	possibly damaging	Het
Pcdhgb5	C	A	18: 37,864,976 (GRCm39)	P257Q	probably benign	Het
Phactr1	A	G	13: 43,286,457 (GRCm39)	D586G	probably damaging	Het
Pkn3	T	A	2: 29,973,548 (GRCm39)		probably null	Het
Prob1	A	T	18: 35,787,553 (GRCm39)	S234T	probably benign	Het
Rab14	A	T	2: 35,073,429 (GRCm39)	L131*	probably null	Het
Rab5c	G	A	11: 100,610,789 (GRCm39)	R40C	probably damaging	Het
Rhebl1	A	G	15: 98,777,164 (GRCm39)	L103P	probably damaging	Het
Rnf10	G	T	5: 115,395,149 (GRCm39)	F146L	probably damaging	Het
Rrbp1	T	C	2: 143,831,087 (GRCm39)	K360R	possibly damaging	Het
Slc6a9	C	T	4: 117,725,261 (GRCm39)	T575I	probably benign	Het
Smo	A	G	6: 29,760,229 (GRCm39)	H776R	probably damaging	Het
Speer1f	T	C	5: 11,469,071 (GRCm39)	V74A	possibly damaging	Het
Tns2	A	G	15: 102,012,914 (GRCm39)	M1V	probably null	Het
Ttn	C	A	2: 76,725,036 (GRCm39)		probably benign	Het
Ugt3a1	A	T	15: 9,306,240 (GRCm39)	M130L	probably benign	Het
Urb2	C	T	8: 124,755,036 (GRCm39)	H248Y	probably benign	Het
Vit	A	T	17: 78,932,585 (GRCm39)	N564I	probably damaging	Het
Vmn1r60	A	T	7: 5,547,310 (GRCm39)	Y263*	probably null	Het
Vmn2r16	A	T	5: 109,511,620 (GRCm39)	Y609F	probably damaging	Het
Xpo7	T	C	14: 70,908,512 (GRCm39)	I876V	probably benign	Het
Zfp442	A	G	2: 150,249,937 (GRCm39)	I655T	probably benign	Het
Zfp574	T	A	7: 24,779,622 (GRCm39)	C215S	possibly damaging	Het
Zfp608	T	C	18: 55,121,069 (GRCm39)	T173A	probably benign	Het
Zfp69	A	T	4: 120,788,598 (GRCm39)	V239D	possibly 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
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
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'- CAAGTGCGGGCAATTTCAGC -3'
(R):5'- TCCTAACCAGATGAATAAGTGGAGG -3'

Sequencing Primer
(F):5'- GCAATTTCAGCTCCGAGTTCAAGG -3'
(R):5'- TTGCTGTGAAAGGCAATCCC -3'

Posted On

2019-05-13