Mutagenetix > Incidental Mutations

Incidental Mutation 'R6135:Man1a2'

488280

Institutional Source

Beutler Lab

Gene Symbol

Man1a2

Ensembl Gene

ENSMUSG00000008763

Gene Name

mannosidase, alpha, class 1A, member 2

Synonyms

Man1b

MMRRC Submission

044282-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6135 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100562208-100685503 bp(-) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

G to A at 100684932 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143695 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008907] [ENSMUST00000130066] [ENSMUST00000196250]

Predicted Effect

probably benign
Transcript: ENSMUST00000008907

SMART Domains

Protein: ENSMUSP00000008907
Gene: ENSMUSG00000008763

Domain	Start	End	E-Value	Type
transmembrane domain	37	56	N/A	INTRINSIC
coiled coil region	101	153	N/A	INTRINSIC
low complexity region	155	170	N/A	INTRINSIC
Pfam:Glyco_hydro_47	187	626	2.8e-156	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119641

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123442

Predicted Effect

probably benign
Transcript: ENSMUST00000130066

SMART Domains

Protein: ENSMUSP00000116489
Gene: ENSMUSG00000008763

Domain	Start	End	E-Value	Type
coiled coil region	18	70	N/A	INTRINSIC
low complexity region	72	87	N/A	INTRINSIC
Pfam:Glyco_hydro_47	104	179	1.2e-23	PFAM
Pfam:Glyco_hydro_47	174	246	1.1e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146818

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195967

Predicted Effect

probably benign
Transcript: ENSMUST00000196250

SMART Domains

Protein: ENSMUSP00000143695
Gene: ENSMUSG00000008763

Domain	Start	End	E-Value	Type
transmembrane domain	38	57	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alpha-mannosidases function at different stages of N-glycan maturation in mammalian cells. See MAN2A1 (MIM 154582) for general information.[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutation of this gene results in respiratory distress and death within a few hours after birth. Lung development is delayed, the alveolar septum is thickened, and hemorrhage occurs in the alveolar region. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,254,216	E95G	probably damaging	Het
Abca4	C	T	3: 122,138,447	T250I	possibly damaging	Het
Ahi1	G	A	10: 20,969,121	R375H	probably benign	Het
Aimp1	T	C	3: 132,672,083	K174E	probably benign	Het
Aire	A	G	10: 78,042,967	L82P	probably damaging	Het
Akap13	T	A	7: 75,609,908	V760D	possibly damaging	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Carf	C	T	1: 60,147,963	S540F	probably damaging	Het
Ccdc171	T	A	4: 83,554,850	M172K	probably benign	Het
Chpt1	A	T	10: 88,482,283	V199E	possibly damaging	Het
Cldn16	G	A	16: 26,474,268	D65N	possibly damaging	Het
Cnga3	G	A	1: 37,232,237		probably benign	Het
Col14a1	A	G	15: 55,380,850	T440A	unknown	Het
Creb3l3	A	G	10: 81,085,718	I331T	probably benign	Het
Cul9	T	C	17: 46,521,453	T1410A	probably benign	Het
Dnm1	T	A	2: 32,333,063		probably null	Het
Fhl5	A	T	4: 25,214,716	Y20*	probably null	Het
Fignl1	T	C	11: 11,802,557	D166G	probably benign	Het
Ghr	T	C	15: 3,325,965	I279V	probably benign	Het
Gm1979	T	G	5: 26,000,300	S180R	probably damaging	Het
Hydin	T	C	8: 110,462,660	V1232A	possibly damaging	Het
Ifnar1	A	G	16: 91,501,620		probably null	Het
Inpp5d	A	G	1: 87,620,397		probably null	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Kcnh2	T	A	5: 24,321,793	S1002C	probably damaging	Het
Krt83	T	A	15: 101,487,534	E319V	probably damaging	Het
Lbp	A	G	2: 158,317,549	I201V	probably benign	Het
Myh8	A	G	11: 67,297,500	T996A	possibly damaging	Het
Nat10	A	G	2: 103,743,316	L319P	probably damaging	Het
Nelfa	A	G	5: 33,899,276		probably null	Het
Olfr1447	A	C	19: 12,901,439	Y114D	probably damaging	Het
Pcdha11	T	A	18: 37,005,817	N166K	probably damaging	Het
Pcdha6	C	A	18: 36,969,216	N487K	probably damaging	Het
Pcsk2	A	G	2: 143,573,540	D91G	possibly damaging	Het
Pigp	A	G	16: 94,370,206	F22L	probably benign	Het
Pnpla8	A	C	12: 44,282,887	N74T	probably benign	Het
Ppargc1b	T	C	18: 61,315,909	K114R	probably damaging	Het
Ppfia2	A	G	10: 106,857,569	D645G	probably damaging	Het
Rnf213	G	A	11: 119,442,028	V2688I	probably benign	Het
Rnf43	A	G	11: 87,732,125	H557R	probably damaging	Het
Rp1l1	C	T	14: 64,030,096	P1044S	probably damaging	Het
Rrp9	G	A	9: 106,483,022	D210N	probably damaging	Het
Scin	G	T	12: 40,079,808	Q329K	possibly damaging	Het
Scn7a	T	A	2: 66,703,900	H477L	probably benign	Het
Slc26a8	A	T	17: 28,669,940	M195K	probably benign	Het
Spata13	A	G	14: 60,756,428	K1110E	probably damaging	Het
Spata24	T	A	18: 35,660,450	E103V	probably damaging	Het
Srek1	T	C	13: 103,774,386	N25S	probably damaging	Het
Strada	T	C	11: 106,173,314	Y59C	probably damaging	Het
Tnrc6c	T	C	11: 117,736,005	W1143R	probably damaging	Het
Trip12	A	T	1: 84,760,838	D765E	probably benign	Het
Ttbk2	G	A	2: 120,750,317	R444C	probably damaging	Het
Ush2a	T	A	1: 188,912,106	I4555N	possibly damaging	Het
Vcan	C	T	13: 89,689,926	E2500K	probably benign	Het
Vps16	A	G	2: 130,438,653	Y200C	possibly damaging	Het
Wdfy4	T	A	14: 32,971,711	H2719L	probably damaging	Het
Zfhx2	T	C	14: 55,074,196	D347G	possibly damaging	Het
Zfp653	G	A	9: 22,058,262	T236I	probably damaging	Het
Zscan4-ps1	A	T	7: 11,065,986	H325Q	probably benign	Het

Other mutations in Man1a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01987:Man1a2	APN	3	100644557	missense	probably damaging	1.00
IGL02009:Man1a2	APN	3	100684662	missense	probably damaging	0.99
IGL02097:Man1a2	APN	3	100582131	missense	possibly damaging	0.68
IGL02395:Man1a2	APN	3	100644537	splice site	probably null
IGL02441:Man1a2	APN	3	100591873	missense	probably benign	0.01
R0043:Man1a2	UTSW	3	100587880	missense	probably damaging	1.00
R0064:Man1a2	UTSW	3	100591883	missense	possibly damaging	0.95
R0217:Man1a2	UTSW	3	100617037	missense	possibly damaging	0.61
R0266:Man1a2	UTSW	3	100582034	missense	probably damaging	1.00
R0284:Man1a2	UTSW	3	100684786	missense	probably damaging	0.98
R0633:Man1a2	UTSW	3	100684575	missense	possibly damaging	0.80
R1074:Man1a2	UTSW	3	100656086	missense	possibly damaging	0.68
R2167:Man1a2	UTSW	3	100591900	missense	probably damaging	1.00
R2177:Man1a2	UTSW	3	100632531	missense	probably damaging	1.00
R3822:Man1a2	UTSW	3	100632597	missense	possibly damaging	0.48
R4361:Man1a2	UTSW	3	100656042	missense	probably benign
R4652:Man1a2	UTSW	3	100632561	missense	probably damaging	1.00
R4871:Man1a2	UTSW	3	100617056	missense	probably damaging	1.00
R5153:Man1a2	UTSW	3	100656263	missense	probably damaging	1.00
R5182:Man1a2	UTSW	3	100647017	missense	probably damaging	0.99
R5201:Man1a2	UTSW	3	100617012	missense	probably benign
R5251:Man1a2	UTSW	3	100620099	missense	probably damaging	1.00
R6793:Man1a2	UTSW	3	100632597	missense	possibly damaging	0.48
R6886:Man1a2	UTSW	3	100656071	missense	probably benign	0.00
R7209:Man1a2	UTSW	3	100647079	missense	unknown
R7224:Man1a2	UTSW	3	100582053	missense	possibly damaging	0.85
R7308:Man1a2	UTSW	3	100620105	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-10-10