Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02183:Maneal'

284322

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Maneal

Ensembl Gene

ENSMUSG00000042763

Gene Name

mannosidase, endo-alpha-like

Synonyms

LOC215090

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02183

Quality Score

Status

Chromosome

Chromosomal Location

124855239-124862171 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 124860416 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 198 (T198I)

Ref Sequence

ENSEMBL: ENSMUSP00000066000 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064444]

AlphaFold

Q6P1J0

Predicted Effect

probably benign
Transcript: ENSMUST00000064444
AA Change: T198I

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000066000
Gene: ENSMUSG00000042763
AA Change: T198I

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	31	46	N/A	INTRINSIC
low complexity region	55	79	N/A	INTRINSIC
Pfam:Glyco_hydro_99	95	445	8.7e-160	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	G	A	1: 37,625,378	P480S	possibly damaging	Het
Ace2	T	A	X: 164,177,469		probably benign	Het
Acsm4	A	T	7: 119,693,852		probably null	Het
Apcdd1	T	C	18: 62,951,854	M374T	probably damaging	Het
Arid4b	A	G	13: 14,169,990	E551G	possibly damaging	Het
Bag4	A	T	8: 25,768,030	L423Q	probably damaging	Het
Celf1	C	T	2: 91,001,486	P96S	probably damaging	Het
Cry2	G	A	2: 92,413,039	R486W	probably damaging	Het
Csn1s1	G	A	5: 87,677,618	S228N	possibly damaging	Het
Ctnnd2	A	G	15: 31,020,740	Y1124C	probably damaging	Het
Cyp2j7	T	C	4: 96,230,147		probably benign	Het
Dock7	A	T	4: 98,958,991	C1695S	possibly damaging	Het
Elmo3	T	C	8: 105,308,323	L415P	probably benign	Het
Entpd5	A	G	12: 84,380,380		probably benign	Het
Gm7534	A	G	4: 134,201,980	L338S	probably benign	Het
Gpatch11	T	C	17: 78,842,231		probably null	Het
Gprin3	C	A	6: 59,353,162	R720I	possibly damaging	Het
Gria4	T	G	9: 4,502,460	T358P	probably damaging	Het
Hcn2	T	C	10: 79,724,813		probably null	Het
Hivep3	A	G	4: 120,132,024	T1891A	probably benign	Het
Hmgcr	A	G	13: 96,663,127	V153A	probably damaging	Het
Ifnar1	T	C	16: 91,505,146	V503A	possibly damaging	Het
Igf2r	G	A	17: 12,698,516		probably benign	Het
Ighg2b	A	G	12: 113,307,829	S35P	unknown	Het
Jmy	T	C	13: 93,499,242	D22G	possibly damaging	Het
Kdm5b	T	C	1: 134,624,931	I1215T	probably benign	Het
Krt84	T	C	15: 101,532,356	I134V	unknown	Het
Magi3	T	A	3: 104,085,347	M270L	probably benign	Het
Map7d3	A	G	X: 56,822,231		probably benign	Het
Myh7	T	A	14: 54,974,731	T1519S	probably benign	Het
Myo5a	T	C	9: 75,167,236		probably benign	Het
Naip5	T	C	13: 100,221,642	S1029G	probably benign	Het
Olfr1162	T	C	2: 88,049,989	T212A	possibly damaging	Het
Olfr1205	A	T	2: 88,832,028	I304F	probably benign	Het
Olfr125	G	T	17: 37,835,413	C138F	probably damaging	Het
Olfr1279	T	A	2: 111,306,418	V71E	probably damaging	Het
Olfr178	T	A	16: 58,889,821	Q133L	probably benign	Het
Pald1	A	T	10: 61,347,141		probably benign	Het
Pan2	T	A	10: 128,309,075	H230Q	possibly damaging	Het
Pcdh9	T	C	14: 93,886,284	I817V	probably benign	Het
Piezo2	A	G	18: 63,020,634	S2547P	probably benign	Het
Ppargc1b	T	A	18: 61,309,096		probably null	Het
Prdm6	T	C	18: 53,464,677		probably benign	Het
Prr5l	A	T	2: 101,772,120		probably benign	Het
Rab3gap2	T	A	1: 185,271,468	L1020*	probably null	Het
Rhbdf1	T	C	11: 32,210,543	H669R	probably damaging	Het
Rnf150	A	T	8: 83,003,605	I255F	probably damaging	Het
Rnf17	T	A	14: 56,507,868	D1360E	probably null	Het
Sag	T	C	1: 87,828,475		probably null	Het
Scn2a	C	T	2: 65,671,603	T90I	probably benign	Het
Scn9a	T	A	2: 66,484,611		probably benign	Het
Serpinb13	T	C	1: 106,998,910	M212T	probably damaging	Het
Slc39a14	C	T	14: 70,306,685	G484E	possibly damaging	Het
Slco1a1	A	T	6: 141,921,943		probably benign	Het
Slitrk3	A	T	3: 73,049,979	Y487N	probably damaging	Het
Stkld1	T	C	2: 26,946,659	M279T	probably benign	Het
Tmem161b	T	C	13: 84,272,254	Y125H	probably damaging	Het
Tmem71	A	G	15: 66,555,025		probably benign	Het
Ubxn7	T	C	16: 32,369,383	F142L	probably damaging	Het
Vmn2r22	A	G	6: 123,638,004	L209P	probably damaging	Het
Wdr73	A	T	7: 80,893,760	W136R	probably damaging	Het
Wif1	C	T	10: 121,075,276	R107C	probably damaging	Het
Ythdf2	G	T	4: 132,205,574	L92M	probably benign	Het
Zfp53	T	A	17: 21,500,250	I34N	possibly damaging	Het

Other mutations in Maneal

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01973:Maneal	APN	4	124859155	missense	probably benign	0.00
IGL02119:Maneal	APN	4	124859167	missense	probably benign	0.01
IGL02338:Maneal	APN	4	124860483	splice site	probably benign
IGL02450:Maneal	APN	4	124857135	missense	probably benign	0.37
IGL02485:Maneal	APN	4	124856770	missense	probably damaging	1.00
BB009:Maneal	UTSW	4	124861845	missense	probably damaging	1.00
BB019:Maneal	UTSW	4	124861845	missense	probably damaging	1.00
R1481:Maneal	UTSW	4	124861857	missense	probably damaging	0.99
R5568:Maneal	UTSW	4	124857144	missense	possibly damaging	0.96
R5909:Maneal	UTSW	4	124857173	nonsense	probably null
R6459:Maneal	UTSW	4	124856842	missense	possibly damaging	0.72
R6493:Maneal	UTSW	4	124857171	missense	probably damaging	1.00
R7121:Maneal	UTSW	4	124857112	missense	probably benign	0.00
R7199:Maneal	UTSW	4	124857190	missense	possibly damaging	0.62
R7329:Maneal	UTSW	4	124856719	missense	probably benign	0.04
R7406:Maneal	UTSW	4	124860368	missense	possibly damaging	0.93
R7456:Maneal	UTSW	4	124856974	missense	probably damaging	1.00
R7932:Maneal	UTSW	4	124861845	missense	probably damaging	1.00
R8795:Maneal	UTSW	4	124856690	nonsense	probably null
R9151:Maneal	UTSW	4	124861749	missense	probably benign	0.25

Posted On

2015-04-16