Mutagenetix > Incidental Mutation

Incidental Mutation 'R7179:Galnt5'

558816

Institutional Source

Beutler Lab

Gene Symbol

Galnt5

Ensembl Gene

ENSMUSG00000026828

Gene Name

polypeptide N-acetylgalactosaminyltransferase 5

Synonyms

ppGaNTase-T5

MMRRC Submission

045269-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7179 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57887832-57931039 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 57888621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 74 (M74L)

Ref Sequence

ENSEMBL: ENSMUSP00000108235 (fasta)

Gene Model

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

AlphaFold

Q8C102

Predicted Effect

probably benign
Transcript: ENSMUST00000112616
AA Change: M74L

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000108235
Gene: ENSMUSG00000026828
AA Change: M74L

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

probably benign
Transcript: ENSMUST00000166729
AA Change: M74L

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000131362
Gene: ENSMUSG00000026828
AA Change: M74L

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

100% (76/76)

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PHENOTYPE: An unpublished knockout mutation is reported to have no overt phenotypic consequences.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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot13	A	T	13: 25,002,154 (GRCm39)	I96K	probably benign	Het
Adam6a	A	G	12: 113,509,291 (GRCm39)	T555A	probably benign	Het
Alms1	C	T	6: 85,598,351 (GRCm39)	P1059L	probably benign	Het
Apol7c	T	C	15: 77,409,843 (GRCm39)	T368A	probably benign	Het
Arfgef3	A	T	10: 18,475,015 (GRCm39)	L1557Q	probably damaging	Het
Baz2a	C	T	10: 127,960,326 (GRCm39)	R1514W	probably damaging	Het
Bmp3	T	A	5: 99,020,622 (GRCm39)	D348E	probably damaging	Het
Bves	A	G	10: 45,230,913 (GRCm39)	S295G	probably damaging	Het
Carmil1	A	G	13: 24,204,052 (GRCm39)	C1328R	probably benign	Het
Ccnk	T	A	12: 108,153,517 (GRCm39)	Y93N	probably damaging	Het
Ccr1	A	T	9: 123,764,089 (GRCm39)	V147D	probably damaging	Het
Cd24a	G	A	10: 43,458,636 (GRCm39)	G36S	probably benign	Het
Cep104	A	G	4: 154,077,324 (GRCm39)	Y569C	probably damaging	Het
Chd2	A	T	7: 73,125,168 (GRCm39)	I884N	probably damaging	Het
Cnst	A	T	1: 179,406,947 (GRCm39)		probably benign	Het
Col22a1	A	G	15: 71,805,262 (GRCm39)	L146P	unknown	Het
Col25a1	G	T	3: 130,323,768 (GRCm39)	R321L	probably damaging	Het
Ctnnd2	T	C	15: 30,683,510 (GRCm39)	Y504H	possibly damaging	Het
D3Ertd751e	C	A	3: 41,703,143 (GRCm39)	Q73K	probably damaging	Het
Dsc2	C	T	18: 20,168,332 (GRCm39)		probably null	Het
Eya1	A	T	1: 14,373,076 (GRCm39)	S14R	probably damaging	Het
Fam131c	A	T	4: 141,110,328 (GRCm39)		probably null	Het
Flvcr2	T	C	12: 85,793,965 (GRCm39)	F114L	possibly damaging	Het
Fyn	A	G	10: 39,408,120 (GRCm39)	D321G	possibly damaging	Het
Garin4	G	A	1: 190,896,218 (GRCm39)	R142C	probably damaging	Het
Gas2l2	G	A	11: 83,313,288 (GRCm39)	P675S	probably benign	Het
Gm9508	G	T	10: 77,532,470 (GRCm39)	Q200K	unknown	Het
Greb1l	G	A	18: 10,544,576 (GRCm39)	S1390N	probably benign	Het
Hdac5	G	T	11: 102,095,385 (GRCm39)	T430K	possibly damaging	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Khnyn	C	T	14: 56,131,811 (GRCm39)	P578S	probably damaging	Het
Lepr	A	T	4: 101,602,856 (GRCm39)	T215S	probably benign	Het
Lrfn5	G	A	12: 61,890,768 (GRCm39)	V686I	probably benign	Het
Mapkap1	T	A	2: 34,408,712 (GRCm39)	H233Q	possibly damaging	Het
Mcm3	A	G	1: 20,885,081 (GRCm39)	I201T	probably damaging	Het
Metrnl	G	A	11: 121,606,734 (GRCm39)	R263Q	probably damaging	Het
Mettl22	A	G	16: 8,295,924 (GRCm39)	E71G	probably benign	Het
Muc16	T	C	9: 18,553,304 (GRCm39)	T4330A	probably benign	Het
Mug1	A	G	6: 121,834,379 (GRCm39)	T387A	probably benign	Het
Myh4	A	G	11: 67,135,550 (GRCm39)	D379G	probably benign	Het
Nbas	A	G	12: 13,455,398 (GRCm39)	D1204G	possibly damaging	Het
Ncor2	T	C	5: 125,132,847 (GRCm39)	K478E	unknown	Het
Or14a256	A	T	7: 86,265,574 (GRCm39)	L93Q	possibly damaging	Het
Or51d1	A	G	7: 102,347,477 (GRCm39)	T11A	probably benign	Het
Or5k1	T	A	16: 58,617,250 (GRCm39)	I320F	probably benign	Het
Osbpl7	G	A	11: 96,941,662 (GRCm39)	V62I	probably benign	Het
Pak1ip1	A	G	13: 41,163,018 (GRCm39)	N246S	probably damaging	Het
Prim1	A	G	10: 127,851,845 (GRCm39)	Y39C	probably damaging	Het
Prl3b1	G	T	13: 27,427,827 (GRCm39)	V46L	probably benign	Het
Prss54	A	T	8: 96,292,199 (GRCm39)	S127T	probably benign	Het
Rasal3	G	A	17: 32,611,391 (GRCm39)	T912M	probably damaging	Het
Rrp12	T	A	19: 41,872,217 (GRCm39)	T420S	probably benign	Het
Rspo1	A	G	4: 124,898,831 (GRCm39)	N51D	probably damaging	Het
Rufy4	A	G	1: 74,172,035 (GRCm39)	R253G	probably benign	Het
Scaf1	G	A	7: 44,657,167 (GRCm39)	R571C	unknown	Het
Scn2a	A	T	2: 65,532,323 (GRCm39)	H645L	probably damaging	Het
Sec24b	A	G	3: 129,782,595 (GRCm39)	S1132P	probably damaging	Het
Slc1a2	A	G	2: 102,586,290 (GRCm39)	K298R	probably damaging	Het
Slc25a54	T	A	3: 109,014,573 (GRCm39)	N230K	probably benign	Het
Slc27a4	T	G	2: 29,705,664 (GRCm39)	Y617*	probably null	Het
Slc2a10	T	C	2: 165,357,269 (GRCm39)	S310P	probably damaging	Het
Snx33	C	T	9: 56,833,151 (GRCm39)	R306H	probably damaging	Het
Spag9	A	T	11: 93,980,258 (GRCm39)		probably null	Het
Spg11	A	T	2: 121,932,270 (GRCm39)		probably null	Het
Sycp2l	A	G	13: 41,283,258 (GRCm39)	T165A	probably damaging	Het
Syt14	A	G	1: 192,615,571 (GRCm39)	C189R	probably damaging	Het
Taar9	A	T	10: 23,984,882 (GRCm39)	L184Q	probably damaging	Het
Tkt	C	T	14: 30,281,815 (GRCm39)	P111L	probably damaging	Het
Trpc1	A	T	9: 95,603,197 (GRCm39)	L445Q	possibly damaging	Het
Usp53	A	G	3: 122,743,359 (GRCm39)	S526P	probably benign	Het
Vps54	T	G	11: 21,248,791 (GRCm39)	W447G	probably damaging	Het
Xirp2	A	T	2: 67,340,177 (GRCm39)	H806L	probably benign	Het
Zfp451	A	T	1: 33,841,651 (GRCm39)	H410Q	unknown	Het
Zfp688	A	G	7: 127,018,484 (GRCm39)	C214R	probably damaging	Het
Zic4	A	G	9: 91,261,174 (GRCm39)	D143G	possibly damaging	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
R1808:Galnt5	UTSW	2	57,916,137 (GRCm39)	missense	probably benign	0.24
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
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'- GCATTTATATTTGCAGCGTCTGTC -3'
(R):5'- ATTGGGAGGAGACTTCAGGC -3'

Sequencing Primer
(F):5'- ATATTTGCAGCGTCTGTCATCTG -3'
(R):5'- AGGAGACTTCAGGCTTGCTATCTC -3'

Posted On

2019-06-26