Mutagenetix > Incidental Mutation

Incidental Mutation 'R7098:Man1b1'

550611

Institutional Source

Beutler Lab

Gene Symbol

Man1b1

Ensembl Gene

ENSMUSG00000036646

Gene Name

mannosidase, alpha, class 1B, member 1

Synonyms

E430019H13Rik, LOC227619, MANA-ER

MMRRC Submission

045190-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7098 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25222742-25242225 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25228196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 155 (D155E)

Ref Sequence

ENSEMBL: ENSMUSP00000114989 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042390] [ENSMUST00000136245]

AlphaFold

A2AJ15

Predicted Effect

probably benign
Transcript: ENSMUST00000042390
AA Change: D138E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000036996
Gene: ENSMUSG00000036646
AA Change: D138E

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
low complexity region	29	42	N/A	INTRINSIC
transmembrane domain	49	71	N/A	INTRINSIC
Pfam:Glyco_hydro_47	215	654	9.5e-167	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131826

Predicted Effect

probably damaging
Transcript: ENSMUST00000136245
AA Change: D155E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114989
Gene: ENSMUSG00000036646
AA Change: D155E

Domain	Start	End	E-Value	Type
transmembrane domain	68	87	N/A	INTRINSIC
PDB:1X9D\|A	145	238	9e-21	PDB
SCOP:d1fo3a_	217	237	1e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149464

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152245

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157546

Meta Mutation Damage Score

0.0635

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (78/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme functions in N-glycan biosynthesis, and is a class I alpha-1,2-mannosidase that specifically converts Man9GlcNAc to Man8GlcNAc isomer B. It is required for N-glycan trimming to Man5-6GlcNAc2 in the endoplasmic-reticulum-associated degradation pathway. Mutations in this gene cause autosomal-recessive intellectual disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Dec 2011]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	A	5: 138,644,784 (GRCm39)	M223K	probably benign	Het
Abce1	T	C	8: 80,412,678 (GRCm39)	T550A	probably benign	Het
Acoxl	C	T	2: 127,696,835 (GRCm39)	Q28*	probably null	Het
Adam8	T	C	7: 139,559,412 (GRCm39)	K820R	possibly damaging	Het
Adamts3	G	T	5: 90,009,354 (GRCm39)	A103D	probably damaging	Het
Apba2	T	A	7: 64,386,696 (GRCm39)	V441D	probably damaging	Het
Arap2	A	G	5: 62,833,293 (GRCm39)		probably null	Het
Arhgef10l	T	A	4: 140,308,222 (GRCm39)	M44L	probably benign	Het
Asb4	T	C	6: 5,398,499 (GRCm39)	C155R	probably damaging	Het
Bpifb6	A	T	2: 153,748,810 (GRCm39)	K269*	probably null	Het
Cc2d2a	A	T	5: 43,840,481 (GRCm39)	T161S	probably benign	Het
Ccdc15	T	A	9: 37,255,256 (GRCm39)	Q98L	probably damaging	Het
Col19a1	A	G	1: 24,565,555 (GRCm39)	S259P	unknown	Het
Col5a2	A	T	1: 45,419,227 (GRCm39)	D1284E	possibly damaging	Het
Cyp2c70	T	C	19: 40,168,931 (GRCm39)	T119A	probably benign	Het
Dennd6b	C	T	15: 89,072,890 (GRCm39)	C188Y	probably damaging	Het
Dhx8	T	A	11: 101,628,594 (GRCm39)		probably null	Het
Dhx9	T	C	1: 153,340,768 (GRCm39)	K624R	probably benign	Het
Dpys	C	T	15: 39,656,727 (GRCm39)	V447M	probably damaging	Het
E130308A19Rik	T	C	4: 59,753,004 (GRCm39)	S706P	possibly damaging	Het
Esrrb	A	G	12: 86,517,189 (GRCm39)	D107G	probably benign	Het
Frmd4a	T	C	2: 4,577,244 (GRCm39)	S367P	probably damaging	Het
Garin2	G	A	12: 78,766,408 (GRCm39)		probably null	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gm136	T	C	4: 34,746,628 (GRCm39)	I128V	probably benign	Het
Gm6525	T	A	3: 84,082,309 (GRCm39)	C77S	possibly damaging	Het
Grid2ip	T	C	5: 143,343,346 (GRCm39)	F14S	probably damaging	Het
Hdhd3	C	T	4: 62,418,152 (GRCm39)	R8H	probably damaging	Het
Kdelr1	C	A	7: 45,523,480 (GRCm39)	A69D	possibly damaging	Het
Krtap16-3	T	A	16: 88,759,560 (GRCm39)	Y51F	unknown	Het
Lrrc40	T	A	3: 157,747,276 (GRCm39)	N129K	probably benign	Het
Mcm5	T	C	8: 75,847,529 (GRCm39)	V442A	probably damaging	Het
Mfsd14a	C	T	3: 116,435,361 (GRCm39)	A235T	probably benign	Het
Mmp1a	C	A	9: 7,475,938 (GRCm39)	T401K	probably benign	Het
Mpig6b	C	T	17: 35,283,320 (GRCm39)	R196Q	unknown	Het
Mroh1	C	T	15: 76,292,657 (GRCm39)	Q262*	probably null	Het
Msh3	A	T	13: 92,410,619 (GRCm39)	D656E	possibly damaging	Het
Muc4	A	T	16: 32,577,465 (GRCm39)	T252S		Het
Myh15	C	T	16: 48,997,420 (GRCm39)	A1746V	possibly damaging	Het
Myh8	C	A	11: 67,169,879 (GRCm39)	T66K	probably benign	Het
Nemf	A	T	12: 69,359,241 (GRCm39)	Y999N	probably damaging	Het
Neurod1	T	C	2: 79,285,029 (GRCm39)	N118S	probably damaging	Het
Nlrp1b	T	A	11: 71,109,100 (GRCm39)	I134L	possibly damaging	Het
Nsun7	A	T	5: 66,418,326 (GRCm39)	I19F	probably damaging	Het
Ofcc1	A	G	13: 40,157,442 (GRCm39)		probably null	Het
P2rx7	A	G	5: 122,811,856 (GRCm39)	E389G	probably damaging	Het
Pam	C	T	1: 97,826,072 (GRCm39)	R194H	probably benign	Het
Pcnt	A	G	10: 76,220,673 (GRCm39)	S2052P	probably benign	Het
Pfkfb4	T	A	9: 108,828,222 (GRCm39)	Y86N	probably benign	Het
Plcd3	T	A	11: 102,968,689 (GRCm39)	D334V	probably damaging	Het
Ppard	T	C	17: 28,517,787 (GRCm39)	V285A	possibly damaging	Het
Prune2	A	G	19: 17,097,966 (GRCm39)	S1157G	probably benign	Het
Psg21	A	T	7: 18,386,470 (GRCm39)	L172H	probably damaging	Het
Psme4	C	A	11: 30,800,661 (GRCm39)	T1417K	probably damaging	Het
Ptprc	T	C	1: 138,027,423 (GRCm39)	D336G	probably benign	Het
Ralgapa1	A	T	12: 55,837,095 (GRCm39)		probably null	Het
Rap1gap	C	A	4: 137,443,393 (GRCm39)		probably null	Het
Scap	T	C	9: 110,201,310 (GRCm39)	S100P	possibly damaging	Het
Scpep1	T	C	11: 88,820,011 (GRCm39)	I426V	possibly damaging	Het
Sdk1	T	C	5: 142,082,625 (GRCm39)	I1341T	probably damaging	Het
Sfmbt2	T	A	2: 10,584,000 (GRCm39)	Y786N	probably benign	Het
Sh3tc1	A	T	5: 35,859,358 (GRCm39)		probably null	Het
Slc5a5	T	A	8: 71,341,182 (GRCm39)	I386F	probably damaging	Het
Smarca4	T	G	9: 21,546,116 (GRCm39)	M98R	probably benign	Het
St18	G	A	1: 6,898,066 (GRCm39)	D623N	probably damaging	Het
Sult2a1	A	T	7: 13,549,978 (GRCm39)		probably null	Het
Tgfb2	C	T	1: 186,362,834 (GRCm39)	R330H	probably damaging	Het
Thoc3	A	G	13: 54,614,119 (GRCm39)	I168T	probably damaging	Het
Tmem126a	C	T	7: 90,100,062 (GRCm39)	M160I	possibly damaging	Het
Tmem200b	C	T	4: 131,649,704 (GRCm39)	P208L	probably benign	Het
Tnrc6c	T	C	11: 117,604,952 (GRCm39)	V29A	probably benign	Het
Tsc1	C	T	2: 28,565,744 (GRCm39)	S465F	probably benign	Het
Ttll5	A	G	12: 85,964,447 (GRCm39)		probably null	Het
Unc13d	G	T	11: 115,954,552 (GRCm39)	L1019I	probably damaging	Het
Vmn2r102	A	T	17: 19,914,670 (GRCm39)	H745L	probably damaging	Het
Wars2	T	G	3: 99,123,957 (GRCm39)	S273A	probably damaging	Het
Xrcc6	C	A	15: 81,919,955 (GRCm39)	S498*	probably null	Het
Ybx1	A	T	4: 119,140,050 (GRCm39)	N92K	possibly damaging	Het

Other mutations in Man1b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:Man1b1	APN	2	25,233,337 (GRCm39)	missense	possibly damaging	0.53
IGL01338:Man1b1	APN	2	25,228,239 (GRCm39)	missense	probably benign	0.01
IGL01934:Man1b1	APN	2	25,235,523 (GRCm39)	missense	probably benign	0.00
IGL03063:Man1b1	APN	2	25,224,416 (GRCm39)	missense	possibly damaging	0.48
IGL03067:Man1b1	APN	2	25,239,344 (GRCm39)	missense	probably benign
canebrake	UTSW	2	25,233,365 (GRCm39)	missense	probably damaging	1.00
sugarcane	UTSW	2	25,233,263 (GRCm39)	missense	probably damaging	1.00
PIT4520001:Man1b1	UTSW	2	25,233,282 (GRCm39)	missense	probably damaging	1.00
R0731:Man1b1	UTSW	2	25,228,167 (GRCm39)	missense	possibly damaging	0.87
R1716:Man1b1	UTSW	2	25,235,032 (GRCm39)	missense	probably benign	0.14
R4470:Man1b1	UTSW	2	25,222,867 (GRCm39)	intron	probably benign
R4472:Man1b1	UTSW	2	25,222,867 (GRCm39)	intron	probably benign
R4838:Man1b1	UTSW	2	25,235,487 (GRCm39)	missense	possibly damaging	0.79
R4953:Man1b1	UTSW	2	25,228,196 (GRCm39)	missense	probably damaging	0.99
R5162:Man1b1	UTSW	2	25,233,365 (GRCm39)	missense	probably damaging	1.00
R5861:Man1b1	UTSW	2	25,238,066 (GRCm39)	missense	probably benign	0.01
R6608:Man1b1	UTSW	2	25,233,263 (GRCm39)	missense	probably damaging	1.00
R7215:Man1b1	UTSW	2	25,240,402 (GRCm39)	missense	probably benign	0.00
Z1176:Man1b1	UTSW	2	25,234,995 (GRCm39)	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- AAGGCTAGCACAGTACTTCAC -3'
(R):5'- AGAACACTGTCTGTTTCAAATGGG -3'

Sequencing Primer
(F):5'- CACTGCACTCTTTGGGTATGGATAC -3'
(R):5'- TGTCTGTTTCAAATGGGAAATATGAC -3'

Posted On

2019-05-15