Mutagenetix > Incidental Mutation

Incidental Mutation 'T0975:Pomgnt1'

262135

Institutional Source

Beutler Lab

Gene Symbol

Pomgnt1

Ensembl Gene

ENSMUSG00000028700

Gene Name

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

Synonyms

0610016I07Rik, 4930467B06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

T0975 (G3) of strain 714

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116007700-116017041 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 115994624 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030469] [ENSMUST00000120083] [ENSMUST00000121052]

AlphaFold

Q91X88

Predicted Effect

silent
Transcript: ENSMUST00000030469

SMART Domains

Protein: ENSMUSP00000030469
Gene: ENSMUSG00000028701

Domain	Start	End	E-Value	Type
low complexity region	25	38	N/A	INTRINSIC
Pfam:LURAP	39	159	1.5e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120083

SMART Domains

Protein: ENSMUSP00000112751
Gene: ENSMUSG00000028700

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

SMART Domains

Protein: ENSMUSP00000112911
Gene: ENSMUSG00000028700

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: ENSMUST00000135982

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144311

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.0%
20x: 93.3%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	TAA	TAAA	11: 3,887,945 (GRCm39)		probably null	Het
4930556J24Rik	C	T	11: 3,926,324 (GRCm39)	A27T	unknown	Het
Ago3	C	T	4: 126,298,056 (GRCm39)	V155I	probably benign	Het
Ago3	G	A	4: 126,298,103 (GRCm39)	A139V	probably benign	Het
Ago3	C	T	4: 126,298,098 (GRCm39)	A141T	probably benign	Het
Ahdc1	ACCTCCT	ACCTCCTCCT	4: 132,790,065 (GRCm39)		probably benign	Het
Azin2	A	G	4: 128,839,927 (GRCm39)	Y222H	probably benign	Het
Bpifb5	C	A	2: 154,071,384 (GRCm39)		probably null	Het
Castor1	G	C	11: 4,170,445 (GRCm39)	G147A	probably benign	Het
Ccdc157	C	T	11: 4,096,246 (GRCm39)	A455T	probably damaging	Het
Ccng1	A	C	11: 40,644,871 (GRCm39)	S9A	probably benign	Het
Cfh	T	C	1: 140,082,336 (GRCm39)	T164A	probably benign	Het
Cherp	TTGGACCTGGACCTGGACCTGGACCTGGA	TTGGACCTGGACCTGGACCTGGA	8: 73,215,878 (GRCm39)		probably benign	Het
Chrng	T	C	1: 87,138,348 (GRCm39)	S380P	probably benign	Het
Clspn	ACGGCGGCGGCGGCG	ACGGCGGCGGCGGCGGCGGCG	4: 126,460,230 (GRCm39)		probably benign	Het
Ctrc	T	TA	4: 141,572,507 (GRCm39)		probably null	Het
Cxxc1	C	T	18: 74,353,992 (GRCm39)	R593C	probably damaging	Het
Dlgap1	T	C	17: 70,823,950 (GRCm39)	S312P	possibly damaging	Het
Dnah10	A	G	5: 124,840,130 (GRCm39)	S1255G	probably benign	Het
Dpep1	A	T	8: 123,927,727 (GRCm39)	S388C	probably damaging	Het
Emid1	T	C	11: 5,094,386 (GRCm39)	T42A	probably damaging	Het
Emid1	A	C	11: 5,078,884 (GRCm39)	L353V	probably benign	Het
Epn3	A	G	11: 94,382,733 (GRCm39)		probably null	Het
Fam124b	T	C	1: 80,190,843 (GRCm39)	E180G	probably benign	Het
Fam135b	T	G	15: 71,335,734 (GRCm39)	T487P	probably damaging	Het
Gja4	G	C	4: 127,206,024 (GRCm39)	H246Q	probably benign	Het
Gm9972	GA	GAA	11: 42,927,597 (GRCm39)		probably null	Het
Hmmr	G	C	11: 40,614,243 (GRCm39)	N148K	probably damaging	Het
Homez	C	T	14: 55,094,796 (GRCm39)	R304K	possibly damaging	Het
Ifngr1	G	A	10: 19,485,221 (GRCm39)	V407M	probably damaging	Het
Inpp5j	G	T	11: 3,452,527 (GRCm39)	T241N	possibly damaging	Het
Kif12	GGGGC	GGGGCCTCCACCCGGCGGGC	4: 63,089,660 (GRCm39)		probably benign	Het
Kremen1	C	T	11: 5,145,105 (GRCm39)	A424T	probably benign	Het
Mat2b	G	A	11: 40,570,918 (GRCm39)	T302I	probably benign	Het
Mtmr3	C	T	11: 4,438,441 (GRCm39)	R671K	probably benign	Het
Nacad	A	G	11: 6,551,632 (GRCm39)	C520R	probably benign	Het
Nacad	GCAGGGTCAGGGTC	GCAGGGTCAGGGTCAGGGTC	11: 6,549,750 (GRCm39)		probably benign	Het
Nacad	T	C	11: 6,551,622 (GRCm39)	N523S	probably benign	Het
Nefh	G	A	11: 4,890,151 (GRCm39)	P823S	probably benign	Het
Nfrkb	G	C	9: 31,308,379 (GRCm39)	A230P	probably benign	Het
Nlrp4a	A	G	7: 26,149,062 (GRCm39)	E223G	probably damaging	Het
Notch3	T	A	17: 32,365,391 (GRCm39)	Y1107F	probably damaging	Het
Or10ak9	G	T	4: 118,726,500 (GRCm39)	R174M	probably benign	Het
Or13g1	A	T	7: 85,955,492 (GRCm39)	Y276*	probably null	Het
Or6c35	A	G	10: 129,169,314 (GRCm39)	D188G	probably benign	Het
Osm	A	G	11: 4,189,588 (GRCm39)	D124G	probably benign	Het
Plekhm2	TTCCTCCTCCT	TTCCTCCT	4: 141,359,292 (GRCm39)		probably benign	Het
Spen	A	G	4: 141,201,664 (GRCm39)	V2321A	probably benign	Het
Sytl1	TCTGC	TC	4: 132,984,305 (GRCm39)		probably benign	Het
Tcn2	G	C	11: 3,873,487 (GRCm39)	F286L	possibly damaging	Het
Tg	T	C	15: 66,560,712 (GRCm39)	S10P	probably benign	Het
Tmprss7	C	T	16: 45,501,096 (GRCm39)	R235Q	probably benign	Het
Tns3	G	A	11: 8,499,100 (GRCm39)		probably benign	Het
Tns3	G	T	11: 8,401,146 (GRCm39)	L1051M	probably benign	Het
Tns3	T	G	11: 8,429,518 (GRCm39)	E806A	probably benign	Het
Toe1	T	C	4: 116,663,290 (GRCm39)	I62M	probably benign	Het
Txnrd2	A	G	16: 18,294,315 (GRCm39)	H436R	probably damaging	Het
Ubr4	C	T	4: 139,179,092 (GRCm39)	P2001S	probably damaging	Het
Vmn2r23	T	A	6: 123,690,120 (GRCm39)	M332K	probably benign	Het
Zbtb8a	GG	GGATG	4: 129,253,812 (GRCm39)		probably benign	Het
Zbtb8a	T	C	4: 129,254,005 (GRCm39)	H163R	probably benign	Het
Zfyve21	A	G	12: 111,794,067 (GRCm39)	D206G	probably damaging	Het
Zkscan4	AGAGGAG	AGAG	13: 21,663,370 (GRCm39)		probably benign	Het
Zmym1	A	C	4: 126,943,466 (GRCm39)	H307Q	probably benign	Het
Zmym1	C	T	4: 126,941,740 (GRCm39)	D785N	probably benign	Het
Zmym1	C	T	4: 126,942,043 (GRCm39)	V684I	probably benign	Het
Zpld2	GTG	GTGCTG	4: 133,929,940 (GRCm39)		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
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
Z1177:Pomgnt1	UTSW	4	116,009,906 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

Posted On

2015-02-04