Mutagenetix > Incidental Mutation

Incidental Mutation 'R4717:Pomgnt1'

354112

Institutional Source

Beutler Lab

Gene Symbol

Pomgnt1

Ensembl Gene

ENSMUSG00000028700

Gene Name

protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase

Synonyms

0610016I07Rik, 4930467B06Rik

MMRRC Submission

041984-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4717 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116007700-116017041 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116011412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 259 (D259G)

Ref Sequence

ENSEMBL: ENSMUSP00000102105 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106494] [ENSMUST00000106496] [ENSMUST00000106498] [ENSMUST00000120083] [ENSMUST00000121052]

AlphaFold

Q91X88

Predicted Effect

probably benign
Transcript: ENSMUST00000106494
AA Change: D270G

PolyPhen 2 Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102103
Gene: ENSMUSG00000028700
AA Change: D270G

Domain	Start	End	E-Value	Type
transmembrane domain	20	37	N/A	INTRINSIC
low complexity region	60	75	N/A	INTRINSIC
PDB:2YOQ\|C	106	195	6e-10	PDB
Pfam:GNT-I	271	591	3e-52	PFAM
low complexity region	623	636	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106496
AA Change: D259G

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102105
Gene: ENSMUSG00000028700
AA Change: D259G

Domain	Start	End	E-Value	Type
low complexity region	82	97	N/A	INTRINSIC
PDB:2YOP\|C	129	217	5e-10	PDB
Pfam:GNT-I	260	580	2.9e-52	PFAM
low complexity region	612	625	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106498
AA Change: D292G

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102107
Gene: ENSMUSG00000028700
AA Change: D292G

Domain	Start	End	E-Value	Type
low complexity region	82	97	N/A	INTRINSIC
PDB:2YOQ\|C	129	217	6e-10	PDB
Pfam:GNT-I	293	613	3.2e-52	PFAM
low complexity region	645	658	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120083
AA Change: D292G

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112751
Gene: ENSMUSG00000028700
AA Change: D292G

Domain	Start	End	E-Value	Type
low complexity region	82	97	N/A	INTRINSIC
Pfam:ILEI	129	220	8.9e-28	PFAM
Pfam:GNT-I	293	612	1.9e-51	PFAM
low complexity region	645	658	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121052
AA Change: D292G

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112911
Gene: ENSMUSG00000028700
AA Change: D292G

Domain	Start	End	E-Value	Type
low complexity region	82	97	N/A	INTRINSIC
PDB:2YOQ\|C	129	217	6e-10	PDB
Pfam:GNT-I	293	613	3.2e-52	PFAM
low complexity region	645	658	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127426

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133838

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147612

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151325

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135982

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]
PHENOTYPE: Surviving homozygous null mice display a mild dystrophy despite a reduced muscle mass and myofiber number, impaired muscle regeneration and low proliferative activity of satellite cells. Mice homozygous for a gene trap allele show reduced fertility and multiple defects in muscle, eye and brain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	C	10: 29,097,783 (GRCm39)	L60P	probably damaging	Het
Acsf2	T	G	11: 94,450,372 (GRCm39)	M512L	probably benign	Het
Ahrr	T	A	13: 74,363,885 (GRCm39)	H312L	probably benign	Het
Akr1c18	T	C	13: 4,186,717 (GRCm39)	M244V	probably benign	Het
Aldh3b2	A	G	19: 4,031,128 (GRCm39)	Y459C	probably damaging	Het
Arhgap29	A	T	3: 121,803,607 (GRCm39)	I796L	possibly damaging	Het
Arrdc4	T	A	7: 68,391,406 (GRCm39)	D287V	probably damaging	Het
Astn2	A	T	4: 65,562,991 (GRCm39)	I930N	possibly damaging	Het
Bace2	T	A	16: 97,238,073 (GRCm39)	L508Q	probably damaging	Het
Baz2a	G	T	10: 127,960,811 (GRCm39)	C1537F	possibly damaging	Het
Cad	A	G	5: 31,224,030 (GRCm39)		probably null	Het
Capn5	A	T	7: 97,773,126 (GRCm39)	I626N	probably benign	Het
Car8	A	T	4: 8,169,685 (GRCm39)	N274K	probably damaging	Het
Casp14	T	C	10: 78,550,958 (GRCm39)	I76V	probably benign	Het
Ccdc88c	A	G	12: 100,882,925 (GRCm39)	V1649A	probably benign	Het
Cemip	A	T	7: 83,596,488 (GRCm39)	I1092N	probably damaging	Het
Clspn	A	G	4: 126,453,849 (GRCm39)	N91D	probably damaging	Het
Cpxm2	A	G	7: 131,656,574 (GRCm39)	Y563H	possibly damaging	Het
Csnk1g2	T	C	10: 80,473,749 (GRCm39)	V72A	probably benign	Het
Cyp46a1	T	C	12: 108,318,285 (GRCm39)		probably null	Het
Cyp4x1	T	C	4: 114,978,902 (GRCm39)	H206R	probably benign	Het
Dapk1	T	A	13: 60,874,476 (GRCm39)		probably null	Het
Ddx1	A	G	12: 13,290,888 (GRCm39)	W76R	probably damaging	Het
Dhx29	G	A	13: 113,083,469 (GRCm39)	R508H	unknown	Het
Dnah2	T	C	11: 69,320,183 (GRCm39)	D3962G	probably benign	Het
Dnajc14	T	A	10: 128,642,113 (GRCm39)	C12S	possibly damaging	Het
Dock1	T	C	7: 134,449,899 (GRCm39)	I804T	probably damaging	Het
Efs	G	T	14: 55,157,801 (GRCm39)	S170Y	probably damaging	Het
Eml4	G	T	17: 83,755,654 (GRCm39)	W295C	probably benign	Het
Fkbp15	A	G	4: 62,226,306 (GRCm39)	S748P	probably damaging	Het
Ghr	T	G	15: 3,349,235 (GRCm39)	I648L	possibly damaging	Het
Gigyf1	T	A	5: 137,523,494 (GRCm39)	I942N	probably damaging	Het
Gpam	T	A	19: 55,064,046 (GRCm39)	E682D	probably benign	Het
Gsr	A	T	8: 34,183,886 (GRCm39)	K383*	probably null	Het
Hapln1	C	A	13: 89,753,579 (GRCm39)	S248R	probably benign	Het
Haus2	G	T	2: 120,449,583 (GRCm39)	R209L	probably benign	Het
Hhatl	A	G	9: 121,618,943 (GRCm39)	F63S	probably damaging	Het
Hmcn1	A	G	1: 150,494,816 (GRCm39)	M4091T	probably benign	Het
Hspb7	A	G	4: 141,149,896 (GRCm39)	D94G	probably damaging	Het
Irf6	T	A	1: 192,849,742 (GRCm39)		probably null	Het
Itgb2	T	A	10: 77,381,878 (GRCm39)	L60*	probably null	Het
Jmjd1c	C	T	10: 66,993,830 (GRCm39)	Q104*	probably null	Het
Kcnh1	A	G	1: 191,959,025 (GRCm39)	D193G	probably damaging	Het
Klhl25	G	T	7: 75,516,528 (GRCm39)	C478F	probably damaging	Het
Klhl3	T	C	13: 58,178,330 (GRCm39)	D267G	probably damaging	Het
L3mbtl4	T	G	17: 68,762,708 (GRCm39)	H80Q	probably null	Het
Lhcgr	C	A	17: 89,049,895 (GRCm39)	V544F	probably benign	Het
Mfsd4a	T	C	1: 131,985,633 (GRCm39)	N168D	probably benign	Het
Mmp3	A	G	9: 7,449,881 (GRCm39)	Q255R	possibly damaging	Het
Mrgprb3	C	A	7: 48,293,000 (GRCm39)	G184C	probably benign	Het
Mtpap	C	T	18: 4,396,394 (GRCm39)	A562V	possibly damaging	Het
Nid1	T	C	13: 13,681,086 (GRCm39)	V1072A	probably benign	Het
Nsf	T	G	11: 103,714,595 (GRCm39)	K728T	probably damaging	Het
Or10ak7	T	C	4: 118,791,626 (GRCm39)	N140D	probably benign	Het
Or12j3	T	C	7: 139,953,328 (GRCm39)	N65S	probably damaging	Het
Or1e17	T	A	11: 73,831,641 (GRCm39)	S190T	possibly damaging	Het
Or2a5	T	C	6: 42,874,158 (GRCm39)	Y258H	probably damaging	Het
Or4k15b	A	T	14: 50,272,821 (GRCm39)	V13E	probably damaging	Het
Pcsk5	A	T	19: 17,502,631 (GRCm39)	C894S	probably damaging	Het
Pde2a	A	G	7: 101,143,879 (GRCm39)	D166G	probably benign	Het
Pfpl	G	A	19: 12,406,618 (GRCm39)	E290K	probably benign	Het
Pi4kb	A	C	3: 94,906,162 (GRCm39)	I570L	probably damaging	Het
Plxnb2	A	T	15: 89,041,622 (GRCm39)	C1727*	probably null	Het
Poln	A	T	5: 34,286,792 (GRCm39)	D125E	possibly damaging	Het
Prx	A	T	7: 27,216,152 (GRCm39)	M218L	probably benign	Het
Pxn	A	T	5: 115,690,001 (GRCm39)	Q342L	probably damaging	Het
Rhpn2	A	G	7: 35,033,775 (GRCm39)	D3G	possibly damaging	Het
Rnase2b	C	T	14: 51,400,174 (GRCm39)	T85I	possibly damaging	Het
Rnaseh2b	C	A	14: 62,591,075 (GRCm39)	T142K	probably damaging	Het
Sacs	T	C	14: 61,450,304 (GRCm39)	S4117P	probably damaging	Het
Sdk2	T	C	11: 113,745,195 (GRCm39)	N700S	probably damaging	Het
Sec62	A	C	3: 30,864,020 (GRCm39)	K101Q	unknown	Het
Sel1l2	A	C	2: 140,071,943 (GRCm39)	L659R	possibly damaging	Het
Septin11	A	G	5: 93,304,815 (GRCm39)	I211V	possibly damaging	Het
Slc25a42	C	T	8: 70,642,107 (GRCm39)	E112K	probably damaging	Het
Spem2	T	C	11: 69,708,609 (GRCm39)	N119D	probably benign	Het
Themis	G	A	10: 28,665,748 (GRCm39)	E604K	probably benign	Het
Tie1	T	C	4: 118,343,414 (GRCm39)	K150E	probably damaging	Het
Top6bl	A	G	19: 4,675,901 (GRCm39)		probably benign	Het
Ubap2	G	A	4: 41,218,333 (GRCm39)	T258I	possibly damaging	Het
Ushbp1	C	T	8: 71,838,313 (GRCm39)	A664T	probably damaging	Het
Vmn1r1	T	C	1: 181,984,774 (GRCm39)	N297S	possibly damaging	Het
Vmn1r173	A	C	7: 23,402,637 (GRCm39)	I291L	probably damaging	Het
Yy1	A	G	12: 108,759,972 (GRCm39)	I212V	possibly damaging	Het
Zfp442	A	T	2: 150,250,149 (GRCm39)	F527L	probably damaging	Het
Zyg11b	T	A	4: 108,099,069 (GRCm39)	H632L	probably damaging	Het

Other mutations in Pomgnt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00534:Pomgnt1	APN	4	116,009,958 (GRCm39)	missense	probably damaging	1.00
IGL02001:Pomgnt1	APN	4	116,010,105 (GRCm39)	nonsense	probably null
IGL02582:Pomgnt1	APN	4	116,015,747 (GRCm39)	missense	probably damaging	1.00
pomegranate	UTSW	4	116,012,087 (GRCm39)	missense	probably damaging	1.00
R0206:Pomgnt1	UTSW	4	116,015,757 (GRCm39)	critical splice donor site	probably null
R0688:Pomgnt1	UTSW	4	116,013,086 (GRCm39)	missense	probably damaging	1.00
R0890:Pomgnt1	UTSW	4	116,009,382 (GRCm39)	missense	probably benign	0.25
R0927:Pomgnt1	UTSW	4	116,009,048 (GRCm39)	missense	probably damaging	1.00
R1942:Pomgnt1	UTSW	4	116,012,472 (GRCm39)	splice site	probably null
R1983:Pomgnt1	UTSW	4	116,009,117 (GRCm39)	missense	probably benign	0.12
R1983:Pomgnt1	UTSW	4	116,009,066 (GRCm39)	missense	probably damaging	1.00
R2034:Pomgnt1	UTSW	4	116,015,124 (GRCm39)	missense	possibly damaging	0.87
R3721:Pomgnt1	UTSW	4	116,010,740 (GRCm39)	splice site	probably benign
R3774:Pomgnt1	UTSW	4	116,011,325 (GRCm39)	missense	probably damaging	1.00
R3775:Pomgnt1	UTSW	4	116,011,325 (GRCm39)	missense	probably damaging	1.00
R3815:Pomgnt1	UTSW	4	116,011,139 (GRCm39)	critical splice donor site	probably null
R3816:Pomgnt1	UTSW	4	116,011,139 (GRCm39)	critical splice donor site	probably null
R3817:Pomgnt1	UTSW	4	116,011,139 (GRCm39)	critical splice donor site	probably null
R3818:Pomgnt1	UTSW	4	116,011,139 (GRCm39)	critical splice donor site	probably null
R4447:Pomgnt1	UTSW	4	116,010,120 (GRCm39)	missense	possibly damaging	0.75
R4583:Pomgnt1	UTSW	4	116,015,691 (GRCm39)	missense	probably benign	0.03
R4616:Pomgnt1	UTSW	4	116,012,087 (GRCm39)	missense	probably damaging	1.00
R4690:Pomgnt1	UTSW	4	116,012,707 (GRCm39)	missense	probably damaging	1.00
R4719:Pomgnt1	UTSW	4	116,012,972 (GRCm39)	missense	probably damaging	1.00
R4747:Pomgnt1	UTSW	4	116,013,396 (GRCm39)	missense	probably damaging	1.00
R5108:Pomgnt1	UTSW	4	116,013,453 (GRCm39)	intron	probably benign
R5569:Pomgnt1	UTSW	4	116,013,164 (GRCm39)	missense	probably damaging	1.00
R5821:Pomgnt1	UTSW	4	116,012,933 (GRCm39)	missense	probably benign	0.16
R5937:Pomgnt1	UTSW	4	116,011,110 (GRCm39)	missense	probably benign	0.01
R6052:Pomgnt1	UTSW	4	116,008,799 (GRCm39)	missense	possibly damaging	0.91
R6745:Pomgnt1	UTSW	4	116,011,080 (GRCm39)	missense	probably damaging	0.97
R6949:Pomgnt1	UTSW	4	116,011,351 (GRCm39)	missense	probably damaging	0.97
R7503:Pomgnt1	UTSW	4	116,009,949 (GRCm39)	missense	possibly damaging	0.76
R7876:Pomgnt1	UTSW	4	116,015,106 (GRCm39)	missense	probably damaging	1.00
R8464:Pomgnt1	UTSW	4	116,009,348 (GRCm39)	missense	probably damaging	1.00
R9415:Pomgnt1	UTSW	4	116,013,378 (GRCm39)	missense	probably damaging	1.00
T0722:Pomgnt1	UTSW	4	115,994,624 (GRCm39)	unclassified	probably benign
T0975:Pomgnt1	UTSW	4	115,994,624 (GRCm39)	unclassified	probably benign
Z1177:Pomgnt1	UTSW	4	116,009,906 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- CAGAGAATGGACATTTGGATCCTC -3'
(R):5'- AGCCCTGGAAACACAGTCTG -3'

Sequencing Primer
(F):5'- TGGACATTTGGATCCTCAATGAG -3'
(R):5'- TGGAAACACAGTCTGTCCCAAC -3'

Posted On

2015-10-21