Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03001:Pomt1'

407326

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pomt1

Ensembl Gene

ENSMUSG00000039254

Gene Name

protein-O-mannosyltransferase 1

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

IGL03001

Quality Score

Status

Chromosome

Chromosomal Location

32236590-32255005 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 32244326 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 286 (M286I)

Ref Sequence

ENSEMBL: ENSMUSP00000038722 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036473] [ENSMUST00000123740] [ENSMUST00000146485]

Predicted Effect

probably benign
Transcript: ENSMUST00000036473
AA Change: M286I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000038722
Gene: ENSMUSG00000039254
AA Change: M286I

Domain	Start	End	E-Value	Type
Pfam:PMT	42	289	2.8e-96	PFAM
MIR	318	381	7.45e-8	SMART
MIR	392	449	1.65e-9	SMART
MIR	456	513	6.2e-5	SMART
Pfam:PMT_4TMC	542	740	3.9e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123740

SMART Domains

Protein: ENSMUSP00000116543
Gene: ENSMUSG00000039254

Domain	Start	End	E-Value	Type
Pfam:PMT	20	233	1.3e-84	PFAM
Pfam:PMT_2	64	229	3.2e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129163

Predicted Effect

probably benign
Transcript: ENSMUST00000132516

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132853

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138000

Predicted Effect

probably benign
Transcript: ENSMUST00000146485

SMART Domains

Protein: ENSMUSP00000116117
Gene: ENSMUSG00000039254

Domain	Start	End	E-Value	Type
Pfam:PMT	44	227	9e-73	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154684

Predicted Effect

probably benign
Transcript: ENSMUST00000192998

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutation of this gene with one allele results in embryonic lethality with disruption of Reichert's membrane. Heterozygous mutation with a second allele results in ectasia in kidney and liver veins and an increased neutrophil count. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830010M20Rik	T	C	5: 107,497,842	I9T	probably damaging	Het
Acan	A	C	7: 79,111,294	D1918A	probably damaging	Het
Ahcy	C	A	2: 155,064,828	D182Y	probably damaging	Het
Aldob	T	G	4: 49,542,844	D110A	probably damaging	Het
Alkbh8	A	T	9: 3,344,602	M53L	probably benign	Het
Aqr	T	C	2: 114,146,919	D363G	probably benign	Het
Asxl3	A	G	18: 22,517,398	R815G	probably damaging	Het
Atf4	T	A	15: 80,256,657	W83R	probably damaging	Het
Baz1a	A	T	12: 54,923,111	M587K	possibly damaging	Het
Cactin	T	A	10: 81,325,734	I700N	probably damaging	Het
Catsperg2	T	C	7: 29,725,079	S95G	probably benign	Het
Cbwd1	T	C	19: 24,922,638	K301E	probably benign	Het
Cd1d1	C	T	3: 86,998,161	S175N	probably benign	Het
Chd4	C	A	6: 125,101,566	A217E	possibly damaging	Het
Cnbd2	T	C	2: 156,333,634		probably null	Het
Cntnap5c	G	A	17: 58,055,639	C329Y	probably damaging	Het
Col12a1	C	T	9: 79,633,673	G2391R	probably damaging	Het
Col5a3	T	A	9: 20,807,744	D238V	unknown	Het
Cuedc1	T	C	11: 88,182,489	V160A	probably benign	Het
Depdc5	T	C	5: 32,945,090	V342A	possibly damaging	Het
Dnah6	T	C	6: 73,149,140	D1338G	probably benign	Het
Dpyd	T	C	3: 118,917,242	V433A	probably benign	Het
Epb41l5	T	C	1: 119,617,644	H179R	probably damaging	Het
Fbf1	T	C	11: 116,165,886		probably benign	Het
Flnb	T	C	14: 7,934,680	S2251P	probably damaging	Het
Fsip2	A	T	2: 82,990,624		probably benign	Het
Grin2b	C	T	6: 135,739,115	V735M	probably damaging	Het
Itpr3	T	G	17: 27,089,612		probably benign	Het
Lingo4	C	T	3: 94,402,396	R214C	probably damaging	Het
Lrp1b	C	T	2: 40,927,889	R2329H	probably damaging	Het
Lrrc47	T	C	4: 154,015,993	L342P	probably damaging	Het
Mmp15	T	C	8: 95,368,217	S240P	probably damaging	Het
Ndufaf4	T	A	4: 24,901,747	N95K	probably benign	Het
Nms	C	T	1: 38,941,912	P60S	probably benign	Het
Npas3	A	T	12: 53,501,192	Y77F	probably damaging	Het
Olfr1158	T	A	2: 87,990,149	Y13N	probably benign	Het
Olfr1173	T	A	2: 88,274,845	D68V	probably damaging	Het
Olfr1412	T	A	1: 92,588,551	S74T	probably damaging	Het
Olfr320	T	G	11: 58,683,876	M1R	probably null	Het
Olfr561	G	T	7: 102,775,253	C243F	probably damaging	Het
Olfr926	A	G	9: 38,878,078	M301V	probably benign	Het
Picalm	T	C	7: 90,182,246	V429A	probably benign	Het
Pkhd1l1	T	A	15: 44,558,004	I3056N	probably damaging	Het
Popdc2	A	T	16: 38,369,519	Y176F	probably benign	Het
Psg21	A	T	7: 18,652,485	M192K	probably benign	Het
Psma1	C	A	7: 114,266,439	A219S	probably benign	Het
Rad21l	T	G	2: 151,668,469	H22P	probably damaging	Het
Rnf213	A	G	11: 119,479,941	T4791A	probably damaging	Het
Sdk2	A	G	11: 113,821,626	V1609A	probably benign	Het
Sema3e	T	A	5: 14,241,043	S606T	probably benign	Het
Slc16a4	A	T	3: 107,311,542	R486S	possibly damaging	Het
Slc17a3	T	C	13: 23,856,784	L331P	probably damaging	Het
Slc38a11	A	T	2: 65,353,815	V164D	probably damaging	Het
Slc38a6	A	G	12: 73,337,053	I173V	probably benign	Het
Synpo2	T	C	3: 123,079,955	T1121A	probably benign	Het
Tfcp2	T	C	15: 100,528,421	D83G	possibly damaging	Het
Thnsl1	A	G	2: 21,211,644	T70A	probably damaging	Het
Tnfrsf21	A	G	17: 43,087,895	I631V	probably damaging	Het
Tor2a	C	A	2: 32,757,317	H6Q	possibly damaging	Het
Ttn	T	C	2: 76,734,923	N19993S	probably benign	Het
Vps53	T	C	11: 76,138,324	E119G	probably damaging	Het
Zkscan6	T	C	11: 65,814,669	W69R	probably damaging	Het
Zswim8	T	C	14: 20,714,391	S610P	probably damaging	Het

Other mutations in Pomt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Pomt1	APN	2	32241772	missense	probably benign
IGL01926:Pomt1	APN	2	32243472	missense	probably benign	0.23
IGL02237:Pomt1	APN	2	32245677	missense	probably benign	0.18
IGL02281:Pomt1	APN	2	32248646	missense	possibly damaging	0.95
IGL03216:Pomt1	APN	2	32242943	missense	probably damaging	0.99
IGL03343:Pomt1	APN	2	32253712	splice site	probably benign
R0049:Pomt1	UTSW	2	32252011	missense	possibly damaging	0.88
R0049:Pomt1	UTSW	2	32252011	missense	possibly damaging	0.88
R0975:Pomt1	UTSW	2	32253895	critical splice donor site	probably null
R1199:Pomt1	UTSW	2	32250492	missense	probably benign
R1414:Pomt1	UTSW	2	32243610	splice site	probably benign
R1421:Pomt1	UTSW	2	32236753	unclassified	probably benign
R1806:Pomt1	UTSW	2	32241668	missense	probably damaging	1.00
R2173:Pomt1	UTSW	2	32250900	missense	probably damaging	1.00
R2209:Pomt1	UTSW	2	32250862	missense	possibly damaging	0.90
R2302:Pomt1	UTSW	2	32243659	missense	probably benign	0.00
R3084:Pomt1	UTSW	2	32244240	missense	probably benign	0.02
R3774:Pomt1	UTSW	2	32244250	missense	possibly damaging	0.93
R3933:Pomt1	UTSW	2	32245619	missense	probably benign	0.00
R4177:Pomt1	UTSW	2	32248677	missense	probably damaging	0.99
R4626:Pomt1	UTSW	2	32254412	missense	possibly damaging	0.84
R4645:Pomt1	UTSW	2	32242876	intron	probably benign
R4864:Pomt1	UTSW	2	32251992	missense	probably benign	0.02
R4911:Pomt1	UTSW	2	32241679	missense	probably damaging	0.97
R5143:Pomt1	UTSW	2	32254329	missense	probably benign	0.23
R5288:Pomt1	UTSW	2	32244299	nonsense	probably null
R5385:Pomt1	UTSW	2	32244299	nonsense	probably null
R5718:Pomt1	UTSW	2	32248692	missense	possibly damaging	0.91
R5735:Pomt1	UTSW	2	32243505	missense	probably damaging	1.00
R5754:Pomt1	UTSW	2	32247590	missense	probably damaging	0.99
R5817:Pomt1	UTSW	2	32248679	missense	probably damaging	0.97
R6304:Pomt1	UTSW	2	32250790	missense	probably damaging	1.00
R6477:Pomt1	UTSW	2	32248716	splice site	probably null
R6793:Pomt1	UTSW	2	32242949	missense	probably damaging	1.00
R6918:Pomt1	UTSW	2	32252861	splice site	probably null
R7114:Pomt1	UTSW	2	32253836	missense	probably benign	0.41

Posted On

2016-08-02