Mutagenetix > Incidental Mutation

Incidental Mutation 'R1808:Galnt5'

203579

Institutional Source

Beutler Lab

Gene Symbol

Galnt5

Ensembl Gene

ENSMUSG00000026828

Gene Name

polypeptide N-acetylgalactosaminyltransferase 5

Synonyms

ppGaNTase-T5

MMRRC Submission

039837-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1808 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57887832-57931039 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57916137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 683 (D683E)

Ref Sequence

ENSEMBL: ENSMUSP00000131362 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112616] [ENSMUST00000166729]

AlphaFold

Q8C102

Predicted Effect

probably benign
Transcript: ENSMUST00000112616
AA Change: D683E

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108235
Gene: ENSMUSG00000026828
AA Change: D683E

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
low complexity region	319	330	N/A	INTRINSIC
Pfam:Glycos_transf_2	489	672	1.3e-33	PFAM
Pfam:Glyco_transf_7C	653	718	1.9e-8	PFAM
RICIN	801	925	1.36e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144671

Predicted Effect

probably benign
Transcript: ENSMUST00000166729
AA Change: D683E

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000131362
Gene: ENSMUSG00000026828
AA Change: D683E

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
low complexity region	319	330	N/A	INTRINSIC
Pfam:Glycos_transf_2	489	672	2.1e-30	PFAM
Pfam:Glyco_transf_7C	652	718	7e-8	PFAM
RICIN	801	925	1.36e-19	SMART

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.1%
20x: 91.9%

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 a membrane-bound polypeptide N-acetylgalactosaminyltransferase that is found in the Golgi. The encoded protein catalyzes the first step in the mucin-type O-glycosylation of Golgi proteins, transfering an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. [provided by RefSeq, Aug 2016]
PHENOTYPE: An unpublished knockout mutation is reported to have no overt phenotypic consequences. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	G	T	5: 146,121,691 (GRCm39)	Y69*	probably null	Het
2310011J03Rik	A	G	10: 80,156,015 (GRCm39)		probably null	Het
A2ml1	A	C	6: 128,520,262 (GRCm39)	D1367E	probably damaging	Het
Adam6a	C	G	12: 113,508,334 (GRCm39)	L236V	probably benign	Het
Arf3	T	C	15: 98,638,954 (GRCm39)	N101S	probably benign	Het
Arhgap42	T	C	9: 9,180,051 (GRCm39)	E76G	probably damaging	Het
Atp2a1	A	G	7: 126,052,573 (GRCm39)	F382S	probably damaging	Het
Bud13	T	A	9: 46,199,705 (GRCm39)	F355L	probably benign	Het
C2	G	A	17: 35,083,508 (GRCm39)	P349S	probably damaging	Het
Cbl	C	A	9: 44,075,526 (GRCm39)	G373V	probably damaging	Het
Ccdc3	T	A	2: 5,142,896 (GRCm39)	L51Q	probably damaging	Het
Ccdc34	T	A	2: 109,874,601 (GRCm39)	M320K	probably benign	Het
Cntln	A	G	4: 85,015,000 (GRCm39)	E1097G	probably damaging	Het
Ctsc	A	C	7: 87,948,750 (GRCm39)	K195Q	possibly damaging	Het
Ctsf	C	T	19: 4,906,562 (GRCm39)	P163L	probably benign	Het
Dcxr	A	T	11: 120,616,438 (GRCm39)		probably null	Het
Dgki	T	C	6: 37,126,509 (GRCm39)	E157G	possibly damaging	Het
Dnah8	T	C	17: 30,903,160 (GRCm39)	L933P	probably damaging	Het
Dtna	T	C	18: 23,702,697 (GRCm39)	L76P	probably damaging	Het
Fcgbp	T	A	7: 27,784,515 (GRCm39)	C192S	probably benign	Het
Greb1l	G	A	18: 10,542,143 (GRCm39)	A1297T	probably benign	Het
Grik4	T	C	9: 42,540,322 (GRCm39)	N286S	probably benign	Het
Hrc	A	T	7: 44,986,202 (GRCm39)	E451V	probably damaging	Het
Hrh3	G	A	2: 179,741,577 (GRCm39)		probably benign	Het
Ints13	A	G	6: 146,455,695 (GRCm39)	I152T	probably damaging	Het
Irgm1	A	T	11: 48,757,259 (GRCm39)	V184D	probably damaging	Het
Itga5	C	T	15: 103,258,826 (GRCm39)	A791T	probably damaging	Het
Kcp	T	C	6: 29,505,654 (GRCm39)	T73A	probably benign	Het
Kidins220	A	G	12: 25,053,008 (GRCm39)	T433A	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Kmt2d	T	C	15: 98,764,567 (GRCm39)	D12G	probably damaging	Het
Mms19	A	G	19: 41,954,698 (GRCm39)	S74P	probably damaging	Het
Myh1	G	T	11: 67,102,300 (GRCm39)	E864*	probably null	Het
Nek1	A	G	8: 61,469,264 (GRCm39)	D107G	probably damaging	Het
Npc1	T	C	18: 12,327,149 (GRCm39)	N1149D	probably damaging	Het
Or14j6	T	A	17: 38,214,661 (GRCm39)	S75T	probably damaging	Het
Or3a1b	C	A	11: 74,012,257 (GRCm39)	S47R	probably damaging	Het
Or4k36	T	C	2: 111,146,343 (GRCm39)	V173A	probably benign	Het
Or5p79	A	C	7: 108,221,817 (GRCm39)	K266T	possibly damaging	Het
Osbp	T	C	19: 11,948,142 (GRCm39)	S150P	probably damaging	Het
Paf1	T	C	7: 28,096,247 (GRCm39)	Y287H	probably damaging	Het
Pdgfrb	T	C	18: 61,201,174 (GRCm39)	V420A	probably benign	Het
Pdss1	G	T	2: 22,796,846 (GRCm39)	E120*	probably null	Het
Pink1	A	T	4: 138,044,630 (GRCm39)	V339E	probably damaging	Het
Pkn3	C	T	2: 29,969,663 (GRCm39)	R58C	probably damaging	Het
Pm20d1	G	A	1: 131,730,165 (GRCm39)	V235I	probably benign	Het
Ppp2r2a	A	G	14: 67,276,412 (GRCm39)	I31T	probably damaging	Het
Rbms3	T	C	9: 116,651,894 (GRCm39)	E152G	probably damaging	Het
Rfx1	A	C	8: 84,821,677 (GRCm39)	Q804H	probably damaging	Het
Rpe	G	T	1: 66,754,356 (GRCm39)	V143L	probably benign	Het
Sap30l	G	T	11: 57,700,771 (GRCm39)	V142L	probably benign	Het
Sh3tc1	T	C	5: 35,863,268 (GRCm39)	Q973R	probably benign	Het
Slc10a2	T	C	8: 5,154,856 (GRCm39)	T110A	probably damaging	Het
Snrnp200	A	T	2: 127,060,947 (GRCm39)		probably null	Het
Snrnp200	G	A	2: 127,060,948 (GRCm39)		probably null	Het
Spaca3	T	A	11: 80,758,511 (GRCm39)	V158E	probably damaging	Het
Sprtn	C	A	8: 125,629,770 (GRCm39)	N354K	probably benign	Het
Stab1	T	A	14: 30,863,101 (GRCm39)	Y2166F	possibly damaging	Het
Tmem106c	G	A	15: 97,866,548 (GRCm39)		probably null	Het
Tnc	A	G	4: 63,918,168 (GRCm39)	S1248P	probably damaging	Het
Tshr	T	C	12: 91,504,090 (GRCm39)	F343L	probably benign	Het
Ttn	C	A	2: 76,555,698 (GRCm39)	A30436S	probably damaging	Het
Ubxn2a	A	T	12: 4,935,839 (GRCm39)	M68K	probably benign	Het
Ucp2	T	C	7: 100,148,021 (GRCm39)	V238A	probably damaging	Het
Urgcp	C	A	11: 5,667,242 (GRCm39)	L365F	probably damaging	Het
Vezt	A	T	10: 93,826,026 (GRCm39)	D328E	probably damaging	Het
Vmn1r168	G	T	7: 23,240,184 (GRCm39)	V14L	probably benign	Het
Vps13b	T	C	15: 35,792,205 (GRCm39)	F2158L	probably benign	Het

Other mutations in Galnt5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Galnt5	APN	2	57,888,985 (GRCm39)	missense	probably benign
IGL00515:Galnt5	APN	2	57,889,080 (GRCm39)	missense	probably benign	0.02
IGL00950:Galnt5	APN	2	57,889,144 (GRCm39)	missense	probably benign	0.00
IGL00973:Galnt5	APN	2	57,888,951 (GRCm39)	missense	probably benign	0.02
IGL01152:Galnt5	APN	2	57,915,405 (GRCm39)	missense	probably benign	0.17
IGL01305:Galnt5	APN	2	57,915,354 (GRCm39)	nonsense	probably null
IGL01661:Galnt5	APN	2	57,889,494 (GRCm39)	missense	probably benign	0.03
IGL01719:Galnt5	APN	2	57,888,555 (GRCm39)	missense	probably damaging	1.00
IGL02165:Galnt5	APN	2	57,888,877 (GRCm39)	missense	probably benign
IGL02795:Galnt5	APN	2	57,917,883 (GRCm39)	missense	probably damaging	1.00
IGL02943:Galnt5	APN	2	57,889,780 (GRCm39)	missense	probably damaging	1.00
IGL03218:Galnt5	APN	2	57,889,401 (GRCm39)	missense	possibly damaging	0.59
ANU22:Galnt5	UTSW	2	57,915,354 (GRCm39)	nonsense	probably null
R0082:Galnt5	UTSW	2	57,889,047 (GRCm39)	missense	possibly damaging	0.92
R0113:Galnt5	UTSW	2	57,888,889 (GRCm39)	missense	probably benign
R0445:Galnt5	UTSW	2	57,888,962 (GRCm39)	missense	probably benign
R0517:Galnt5	UTSW	2	57,925,385 (GRCm39)	splice site	probably benign
R0609:Galnt5	UTSW	2	57,914,637 (GRCm39)	missense	possibly damaging	0.90
R0639:Galnt5	UTSW	2	57,889,407 (GRCm39)	missense	probably benign	0.07
R0646:Galnt5	UTSW	2	57,889,097 (GRCm39)	missense	probably benign	0.00
R0677:Galnt5	UTSW	2	57,888,992 (GRCm39)	nonsense	probably null
R1927:Galnt5	UTSW	2	57,888,615 (GRCm39)	missense	probably benign	0.00
R1980:Galnt5	UTSW	2	57,914,735 (GRCm39)	critical splice donor site	probably null
R2517:Galnt5	UTSW	2	57,889,425 (GRCm39)	missense	probably benign	0.00
R4044:Galnt5	UTSW	2	57,888,472 (GRCm39)	missense	probably damaging	1.00
R4154:Galnt5	UTSW	2	57,888,505 (GRCm39)	missense	probably damaging	1.00
R4411:Galnt5	UTSW	2	57,889,207 (GRCm39)	missense	probably benign	0.01
R4703:Galnt5	UTSW	2	57,888,919 (GRCm39)	missense	possibly damaging	0.96
R4767:Galnt5	UTSW	2	57,918,156 (GRCm39)	missense	possibly damaging	0.91
R5118:Galnt5	UTSW	2	57,905,015 (GRCm39)	missense	probably damaging	1.00
R5497:Galnt5	UTSW	2	57,915,340 (GRCm39)	missense	probably damaging	0.99
R5506:Galnt5	UTSW	2	57,889,637 (GRCm39)	missense	probably benign
R5548:Galnt5	UTSW	2	57,904,922 (GRCm39)	missense	probably damaging	0.99
R5758:Galnt5	UTSW	2	57,888,442 (GRCm39)	missense	probably benign	0.19
R5937:Galnt5	UTSW	2	57,928,949 (GRCm39)	missense	probably benign	0.00
R6237:Galnt5	UTSW	2	57,925,261 (GRCm39)	missense	probably damaging	0.96
R6805:Galnt5	UTSW	2	57,925,311 (GRCm39)	missense	possibly damaging	0.82
R6959:Galnt5	UTSW	2	57,889,231 (GRCm39)	missense	probably benign	0.39
R7070:Galnt5	UTSW	2	57,888,621 (GRCm39)	missense	probably benign	0.00
R7179:Galnt5	UTSW	2	57,888,621 (GRCm39)	missense	probably benign	0.06
R7347:Galnt5	UTSW	2	57,907,205 (GRCm39)	missense	probably benign	0.33
R7419:Galnt5	UTSW	2	57,904,937 (GRCm39)	missense	probably damaging	1.00
R7426:Galnt5	UTSW	2	57,907,151 (GRCm39)	missense	probably damaging	0.99
R7492:Galnt5	UTSW	2	57,916,048 (GRCm39)	splice site	probably null
R7539:Galnt5	UTSW	2	57,925,242 (GRCm39)	missense	probably damaging	0.99
R7623:Galnt5	UTSW	2	57,907,222 (GRCm39)	missense	probably damaging	0.99
R8135:Galnt5	UTSW	2	57,904,880 (GRCm39)	missense	probably damaging	1.00
R8155:Galnt5	UTSW	2	57,889,427 (GRCm39)	missense	probably benign	0.01
R8544:Galnt5	UTSW	2	57,907,160 (GRCm39)	missense	probably damaging	1.00
R9267:Galnt5	UTSW	2	57,925,220 (GRCm39)	missense	possibly damaging	0.58
R9747:Galnt5	UTSW	2	57,889,477 (GRCm39)	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- TGGCTCCATCCCAAGACTTC -3'
(R):5'- AGTTCCTTCTCAGTGGCAGTC -3'

Sequencing Primer
(F):5'- AAGACTTCCCTGTACCTATCCAG -3'
(R):5'- TGGGTAACGCACTGATTCAGC -3'

Posted On

2014-06-23