Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01973:Maneal'

182574

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 #

IGL01973

Quality Score

Status

Chromosome

Chromosomal Location

124749032-124755964 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124752948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 233 (D233G)

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: D233G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000066000
Gene: ENSMUSG00000042763
AA Change: D233G

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004P03Rik	A	G	12: 17,061,172 (GRCm39)	W59R	probably damaging	Het
Adam17	C	T	12: 21,399,944 (GRCm39)	R154K	probably damaging	Het
Ajm1	G	T	2: 25,469,584 (GRCm39)	S109*	probably null	Het
Atp9b	A	T	18: 80,801,518 (GRCm39)	F791I	probably benign	Het
Atr	T	G	9: 95,753,727 (GRCm39)	S776R	probably damaging	Het
AW554918	A	T	18: 25,553,056 (GRCm39)	T487S	probably damaging	Het
Bckdhb	T	A	9: 83,873,789 (GRCm39)	F217Y	probably benign	Het
Cacna1i	G	A	15: 80,266,234 (GRCm39)	A1574T	probably damaging	Het
Ccdc150	G	A	1: 54,339,647 (GRCm39)		probably null	Het
Clca4c-ps	A	T	3: 144,585,593 (GRCm39)		noncoding transcript	Het
Clec4a1	T	C	6: 122,907,680 (GRCm39)	S123P	probably damaging	Het
Col6a4	T	C	9: 105,940,093 (GRCm39)	Y1279C	probably damaging	Het
Cox8c	T	A	12: 102,865,626 (GRCm39)	M1K	probably null	Het
Crat	G	T	2: 30,295,493 (GRCm39)	S370Y	probably damaging	Het
Cts7	A	T	13: 61,503,414 (GRCm39)	D183E	probably benign	Het
Cyp1a2	C	A	9: 57,589,678 (GRCm39)	W45C	probably damaging	Het
Eml5	T	A	12: 98,829,539 (GRCm39)	I492L	probably benign	Het
Fbxl4	T	G	4: 22,422,766 (GRCm39)	L456R	probably damaging	Het
Flt1	G	T	5: 147,620,699 (GRCm39)	H148Q	probably benign	Het
Galnt3	T	C	2: 65,914,606 (GRCm39)	M604V	probably benign	Het
Gatb	T	C	3: 85,518,731 (GRCm39)	V279A	probably damaging	Het
Heatr1	C	A	13: 12,444,680 (GRCm39)	H1543Q	probably benign	Het
Ighg2b	C	T	12: 113,271,305 (GRCm39)	V83I	unknown	Het
Jcad	A	G	18: 4,675,514 (GRCm39)	Q1092R	probably benign	Het
Kirrel3	A	G	9: 34,927,764 (GRCm39)	E6G	probably damaging	Het
Klhl22	A	G	16: 17,610,575 (GRCm39)	S609G	probably benign	Het
Kntc1	A	G	5: 123,904,021 (GRCm39)	Y346C	probably damaging	Het
Mcm3ap	T	C	10: 76,306,951 (GRCm39)	S355P	probably benign	Het
Mtus2	C	T	5: 148,240,286 (GRCm39)		probably benign	Het
Muc4	A	G	16: 32,575,383 (GRCm39)	T1380A	probably benign	Het
Nedd4	T	A	9: 72,644,216 (GRCm39)	M661K	possibly damaging	Het
Nomo1	T	C	7: 45,732,651 (GRCm39)		probably benign	Het
Ntmt2	A	G	1: 163,544,689 (GRCm39)	I98T	probably benign	Het
Ntsr2	T	A	12: 16,706,775 (GRCm39)	W268R	probably benign	Het
Nup188	A	C	2: 30,229,862 (GRCm39)	Q1360P	possibly damaging	Het
Or2c1	A	T	16: 3,657,641 (GRCm39)	Q268L	probably damaging	Het
Or6k6	A	G	1: 173,945,099 (GRCm39)	F161S	probably damaging	Het
Pabpc1	A	T	15: 36,599,519 (GRCm39)	V392E	probably benign	Het
Pcdhb11	C	A	18: 37,556,565 (GRCm39)	R632S	probably damaging	Het
Phf11	A	G	14: 59,488,578 (GRCm39)	V73A	probably benign	Het
Pnpla6	T	A	8: 3,567,619 (GRCm39)	M87K	probably damaging	Het
Prkd1	C	T	12: 50,413,162 (GRCm39)	G670R	probably damaging	Het
Raf1	G	A	6: 115,653,530 (GRCm39)		probably benign	Het
Rapgef2	T	A	3: 78,999,116 (GRCm39)		probably null	Het
Rnf215	A	T	11: 4,086,615 (GRCm39)	H164L	probably damaging	Het
Slc24a3	T	C	2: 145,086,947 (GRCm39)	V19A	probably benign	Het
Tbc1d16	A	T	11: 119,047,533 (GRCm39)	V396E	probably benign	Het
Tecpr1	T	C	5: 144,134,806 (GRCm39)		probably benign	Het
Thap12	T	A	7: 98,365,706 (GRCm39)	Y625N	possibly damaging	Het
Tshz2	A	T	2: 169,726,603 (GRCm39)	M400L	probably damaging	Het
Ttc28	A	G	5: 111,372,101 (GRCm39)	Y850C	possibly damaging	Het
Ugt1a7c	A	G	1: 88,022,856 (GRCm39)	D5G	probably benign	Het
Vmn2r10	C	T	5: 109,143,543 (GRCm39)	M802I	probably damaging	Het
Washc4	T	C	10: 83,391,973 (GRCm39)	Y220H	probably damaging	Het
Zfhx3	T	A	8: 109,673,825 (GRCm39)	M1625K	probably damaging	Het
Zfp677	T	A	17: 21,617,169 (GRCm39)	N75K	probably damaging	Het
Zzz3	T	C	3: 152,134,007 (GRCm39)	V355A	probably benign	Het

Other mutations in Maneal

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02119:Maneal	APN	4	124,752,960 (GRCm39)	missense	probably benign	0.01
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

2014-05-07