Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02119:Maneal'

280507

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 #

IGL02119

Quality Score

Status

Chromosome

Chromosomal Location

124749032-124755964 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 124752960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 229 (I229N)

Ref Sequence

ENSEMBL: ENSMUSP00000066000 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064444] [ENSMUST00000102628] [ENSMUST00000144851]

AlphaFold

Q6P1J0

Predicted Effect

probably benign
Transcript: ENSMUST00000064444
AA Change: I229N

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000066000
Gene: ENSMUSG00000042763
AA Change: I229N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000102628

SMART Domains

Protein: ENSMUSP00000099688
Gene: ENSMUSG00000028889

Domain	Start	End	E-Value	Type
low complexity region	32	63	N/A	INTRINSIC
Pfam:Sua5_yciO_yrdC	76	256	1.3e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144851

SMART Domains

Protein: ENSMUSP00000114150
Gene: ENSMUSG00000028889

Domain	Start	End	E-Value	Type
Pfam:Sua5_yciO_yrdC	1	103	2.5e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173434

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,158,344 (GRCm39)		probably null	Het
Acsbg2	T	C	17: 57,175,459 (GRCm39)		probably benign	Het
Ap3b1	T	C	13: 94,598,911 (GRCm39)	V495A	probably benign	Het
Astn1	T	C	1: 158,338,724 (GRCm39)		probably benign	Het
Bora	A	G	14: 99,290,974 (GRCm39)	D94G	probably damaging	Het
Bpifb9b	G	T	2: 154,155,544 (GRCm39)	V348L	possibly damaging	Het
Cd160	A	T	3: 96,716,139 (GRCm39)	I17N	possibly damaging	Het
Cyp2d11	A	C	15: 82,274,265 (GRCm39)	I372S	probably damaging	Het
Dennd2c	T	A	3: 103,044,559 (GRCm39)	V380D	probably damaging	Het
Fat4	C	T	3: 39,037,088 (GRCm39)	A3580V	probably benign	Het
Filip1	A	G	9: 79,725,548 (GRCm39)	S1024P	probably benign	Het
Flnc	G	A	6: 29,447,511 (GRCm39)	E1105K	probably damaging	Het
Gbp4	T	A	5: 105,268,908 (GRCm39)	E415V	probably benign	Het
Gdap1l1	T	A	2: 163,295,588 (GRCm39)	F224Y	probably damaging	Het
Gm11146	A	T	16: 77,385,498 (GRCm39)		probably null	Het
Gsn	G	T	2: 35,192,507 (GRCm39)	R485L	probably damaging	Het
Havcr1	A	G	11: 46,666,320 (GRCm39)	Y261C	probably damaging	Het
Med24	A	T	11: 98,619,661 (GRCm39)	M27K	probably benign	Het
Nipsnap2	T	A	5: 129,825,056 (GRCm39)		probably benign	Het
Noa1	T	A	5: 77,455,426 (GRCm39)	Q430L	probably benign	Het
Or1l4	C	A	2: 37,091,281 (GRCm39)	S9R	possibly damaging	Het
Or5d47	T	A	2: 87,804,754 (GRCm39)	N85I	probably benign	Het
Or7g12	T	C	9: 18,899,908 (GRCm39)	V208A	probably benign	Het
Or8h9	T	C	2: 86,789,527 (GRCm39)	I92V	probably benign	Het
Pde3a	T	A	6: 141,405,529 (GRCm39)	S460R	probably damaging	Het
Pdzd8	T	C	19: 59,288,922 (GRCm39)	Q826R	possibly damaging	Het
Pfkfb4	C	T	9: 108,854,178 (GRCm39)	R351W	probably damaging	Het
Pikfyve	T	A	1: 65,311,730 (GRCm39)	I1989N	probably damaging	Het
Poldip2	T	A	11: 78,408,734 (GRCm39)	F200I	probably damaging	Het
Prodh2	T	C	7: 30,205,929 (GRCm39)	V208A	probably damaging	Het
Ranbp10	T	C	8: 106,553,635 (GRCm39)	D89G	probably damaging	Het
Rbm33	T	A	5: 28,544,015 (GRCm39)	S90R	probably damaging	Het
Slc44a4	A	C	17: 35,147,637 (GRCm39)	D441A	probably damaging	Het
Slc4a10	A	T	2: 62,059,014 (GRCm39)	I174F	probably damaging	Het
Smim17	T	C	7: 6,430,160 (GRCm39)		probably benign	Het
Tln1	T	C	4: 43,546,760 (GRCm39)	E872G	probably damaging	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Top2b	T	C	14: 16,406,733 (GRCm38)	L625S	probably damaging	Het
Vmn2r59	A	G	7: 41,695,593 (GRCm39)	V273A	probably benign	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Whrn	T	G	4: 63,353,724 (GRCm39)	K348Q	probably damaging	Het
Zc3h14	T	C	12: 98,730,154 (GRCm39)	V399A	probably benign	Het

Other mutations in Maneal

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01973:Maneal	APN	4	124,752,948 (GRCm39)	missense	probably benign	0.00
IGL02183:Maneal	APN	4	124,754,209 (GRCm39)	missense	probably benign	0.25
IGL02338:Maneal	APN	4	124,754,276 (GRCm39)	splice site	probably benign
IGL02450:Maneal	APN	4	124,750,928 (GRCm39)	missense	probably benign	0.37
IGL02485:Maneal	APN	4	124,750,563 (GRCm39)	missense	probably damaging	1.00
BB009:Maneal	UTSW	4	124,755,638 (GRCm39)	missense	probably damaging	1.00
BB019:Maneal	UTSW	4	124,755,638 (GRCm39)	missense	probably damaging	1.00
R1481:Maneal	UTSW	4	124,755,650 (GRCm39)	missense	probably damaging	0.99
R5568:Maneal	UTSW	4	124,750,937 (GRCm39)	missense	possibly damaging	0.96
R5909:Maneal	UTSW	4	124,750,966 (GRCm39)	nonsense	probably null
R6459:Maneal	UTSW	4	124,750,635 (GRCm39)	missense	possibly damaging	0.72
R6493:Maneal	UTSW	4	124,750,964 (GRCm39)	missense	probably damaging	1.00
R7121:Maneal	UTSW	4	124,750,905 (GRCm39)	missense	probably benign	0.00
R7199:Maneal	UTSW	4	124,750,983 (GRCm39)	missense	possibly damaging	0.62
R7329:Maneal	UTSW	4	124,750,512 (GRCm39)	missense	probably benign	0.04
R7406:Maneal	UTSW	4	124,754,161 (GRCm39)	missense	possibly damaging	0.93
R7456:Maneal	UTSW	4	124,750,767 (GRCm39)	missense	probably damaging	1.00
R7932:Maneal	UTSW	4	124,755,638 (GRCm39)	missense	probably damaging	1.00
R8795:Maneal	UTSW	4	124,750,483 (GRCm39)	nonsense	probably null
R9151:Maneal	UTSW	4	124,755,542 (GRCm39)	missense	probably benign	0.25

Posted On

2015-04-16