Mutagenetix > Incidental Mutation

Incidental Mutation 'R5569:Pomgnt1'

435510

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

043126-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5569 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116007700-116017041 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116013164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 423 (S423P)

Ref Sequence

ENSEMBL: ENSMUSP00000102105 (fasta)

Gene Model

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

AlphaFold

Q91X88

Predicted Effect

probably damaging
Transcript: ENSMUST00000106494
AA Change: S434P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102103
Gene: ENSMUSG00000028700
AA Change: S434P

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

probably damaging
Transcript: ENSMUST00000106496
AA Change: S423P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102105
Gene: ENSMUSG00000028700
AA Change: S423P

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 damaging
Transcript: ENSMUST00000106498
AA Change: S456P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102107
Gene: ENSMUSG00000028700
AA Change: S456P

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 damaging
Transcript: ENSMUST00000120083
AA Change: S456P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112751
Gene: ENSMUSG00000028700
AA Change: S456P

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 damaging
Transcript: ENSMUST00000121052
AA Change: S456P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112911
Gene: ENSMUSG00000028700
AA Change: S456P

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: ENSMUST00000155718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151325

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135982

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147612

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 94.9%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	A	G	5: 121,764,143 (GRCm39)	S929P	probably damaging	Het
Ackr3	A	G	1: 90,142,563 (GRCm39)	T341A	probably benign	Het
Acox3	A	G	5: 35,760,377 (GRCm39)	Y431C	probably damaging	Het
Adamtsl2	G	A	2: 26,992,845 (GRCm39)	V653M	probably damaging	Het
Anks6	T	C	4: 47,045,007 (GRCm39)	K300E	probably damaging	Het
Ap5z1	A	T	5: 142,460,206 (GRCm39)	D495V	probably damaging	Het
Atm	A	T	9: 53,427,750 (GRCm39)	Y453*	probably null	Het
Atpaf2	A	T	11: 60,307,706 (GRCm39)	W11R	probably damaging	Het
Bhmt1b	A	C	18: 87,775,392 (GRCm39)	Y305S	probably damaging	Het
Capn1	T	A	19: 6,063,690 (GRCm39)	T129S	probably benign	Het
Catspere2	A	T	1: 177,939,162 (GRCm39)	K678N	possibly damaging	Het
Cdh17	A	G	4: 11,816,990 (GRCm39)	I800M	probably damaging	Het
Cfap206	C	T	4: 34,724,892 (GRCm39)	R69Q	probably damaging	Het
Cp	T	C	3: 20,033,041 (GRCm39)	Y623H	probably damaging	Het
Dcaf5	A	T	12: 80,386,975 (GRCm39)	Y384N	probably damaging	Het
Dhx9	A	T	1: 153,342,838 (GRCm39)	C555S	possibly damaging	Het
Dlg2	A	G	7: 91,617,388 (GRCm39)	T317A	probably benign	Het
Dsp	C	T	13: 38,376,628 (GRCm39)	T1471I	probably benign	Het
Ebf1	A	G	11: 44,883,228 (GRCm39)	M489V	possibly damaging	Het
Enpp3	T	C	10: 24,654,719 (GRCm39)	D230G	probably damaging	Het
Eri3	T	C	4: 117,506,553 (GRCm39)	M294T	possibly damaging	Het
Fat1	T	A	8: 45,492,873 (GRCm39)	V3842E	probably damaging	Het
Fermt1	T	A	2: 132,757,123 (GRCm39)	Y569F	possibly damaging	Het
Fscn1	A	G	5: 142,946,799 (GRCm39)	D199G	probably benign	Het
Glce	A	G	9: 61,977,485 (GRCm39)	V133A	probably benign	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Hk1	A	G	10: 62,122,220 (GRCm39)	S520P	probably benign	Het
Ighv12-3	A	G	12: 114,330,555 (GRCm39)	V7A	probably benign	Het
Ighv6-7	C	A	12: 114,419,476 (GRCm39)	A43S	probably damaging	Het
Inf2	A	G	12: 112,568,113 (GRCm39)	I222V	possibly damaging	Het
Kmo	T	A	1: 175,482,688 (GRCm39)	N337K	probably benign	Het
Mcf2l	C	T	8: 13,055,481 (GRCm39)	R611W	probably damaging	Het
Mipep	A	T	14: 61,040,383 (GRCm39)	H301L	probably damaging	Het
Mprip	A	T	11: 59,651,789 (GRCm39)	E1831V	probably damaging	Het
Mrgpra3	T	C	7: 47,239,759 (GRCm39)	T56A	probably benign	Het
Mtmr14	G	A	6: 113,217,246 (GRCm39)	V53I	probably damaging	Het
Mycbp2	A	T	14: 103,372,679 (GRCm39)	W4056R	probably damaging	Het
Myl2	A	T	5: 122,244,783 (GRCm39)	D151V	possibly damaging	Het
Myo5c	A	T	9: 75,180,792 (GRCm39)	D727V	probably damaging	Het
Or10s1	A	G	9: 39,985,593 (GRCm39)	M1V	probably null	Het
Or1e22	A	T	11: 73,377,518 (GRCm39)	I44N	probably damaging	Het
Or2ag12	A	T	7: 106,277,690 (GRCm39)	M1K	probably null	Het
Or56b1b	T	A	7: 108,164,772 (GRCm39)	M77L	probably benign	Het
Or9s18	A	G	13: 65,300,793 (GRCm39)	T252A	possibly damaging	Het
Pabpc1l	C	T	2: 163,885,474 (GRCm39)	T409I	probably benign	Het
Pcgf1	C	T	6: 83,056,686 (GRCm39)	R81*	probably null	Het
Pcgf2	A	G	11: 97,583,193 (GRCm39)		probably null	Het
Phf14	T	A	6: 11,934,015 (GRCm39)	N292K	probably damaging	Het
Plin4	T	C	17: 56,409,147 (GRCm39)	T1358A	probably benign	Het
Prep	G	A	10: 44,973,533 (GRCm39)	V214I	probably benign	Het
Ptger1	T	C	8: 84,394,961 (GRCm39)		probably null	Het
Pus7	C	T	5: 23,953,832 (GRCm39)	G415D	probably benign	Het
Rbm44	C	T	1: 91,096,460 (GRCm39)	P940S	probably damaging	Het
Ripor1	A	T	8: 106,344,147 (GRCm39)	D427V	probably damaging	Het
Rp1	A	G	1: 4,415,460 (GRCm39)	I1884T	probably damaging	Het
Rpl15-ps6	T	C	15: 52,341,624 (GRCm39)		noncoding transcript	Het
Serinc2	T	C	4: 130,172,272 (GRCm39)	R7G	probably benign	Het
Serpina6	A	C	12: 103,620,719 (GRCm39)	F10C	possibly damaging	Het
Skint5	T	A	4: 113,545,903 (GRCm39)		probably null	Het
Slc66a3	T	A	12: 17,045,629 (GRCm39)	I114F	possibly damaging	Het
Slc6a4	A	T	11: 76,914,081 (GRCm39)	I544F	possibly damaging	Het
Spdye4b	T	C	5: 143,188,176 (GRCm39)	M223T	probably benign	Het
Tbc1d17	A	T	7: 44,497,755 (GRCm39)	V39D	probably damaging	Het
Thbs3	T	A	3: 89,126,770 (GRCm39)	Y295N	probably damaging	Het
Themis	G	A	10: 28,657,887 (GRCm39)	E152K	possibly damaging	Het
Tmem131	A	T	1: 36,838,419 (GRCm39)	I1502N	probably benign	Het
Tmem43	T	A	6: 91,454,336 (GRCm39)	M41K	probably benign	Het
Tmprss6	A	C	15: 78,324,503 (GRCm39)	W771G	probably damaging	Het
Trp53tg5	T	C	2: 164,313,256 (GRCm39)	T140A	probably benign	Het
Uchl1	A	G	5: 66,844,216 (GRCm39)	E206G	probably damaging	Het
Vash2	A	G	1: 190,692,488 (GRCm39)	V229A	possibly damaging	Het
Vmn1r192	C	A	13: 22,371,384 (GRCm39)	A279S	possibly damaging	Het
Vmn1r32	T	C	6: 66,530,156 (GRCm39)	R207G	probably damaging	Het
Vmn2r14	T	A	5: 109,368,261 (GRCm39)	M244L	probably benign	Het
Vwa5b2	T	A	16: 20,414,089 (GRCm39)	H236Q	probably damaging	Het
Zfp652	C	T	11: 95,640,116 (GRCm39)	P14S	probably benign	Het
Zfp668	G	A	7: 127,466,995 (GRCm39)	R194*	probably null	Het
Zgrf1	G	T	3: 127,354,674 (GRCm39)	V98L	probably benign	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
R4717:Pomgnt1	UTSW	4	116,011,412 (GRCm39)	missense	possibly damaging	0.50
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
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'- CAGCCTGTACTGCATCTCTG -3'
(R):5'- AACATCCGGGATGATACACTCTC -3'

Sequencing Primer
(F):5'- GCATCTCTGCCTGGAATGAC -3'
(R):5'- GATGATACACTCTCGGCCC -3'

Posted On

2016-10-24