Mutagenetix > Incidental Mutation

Incidental Mutation 'R7426:Galnt5'

576037

Institutional Source

Beutler Lab

Gene Symbol

Galnt5

Ensembl Gene

ENSMUSG00000026828

Gene Name

polypeptide N-acetylgalactosaminyltransferase 5

Synonyms

ppGaNTase-T5

MMRRC Submission

045504-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7426 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57887832-57931039 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57907151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 538 (D538V)

Ref Sequence

ENSEMBL: ENSMUSP00000108235 (fasta)

Gene Model

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

AlphaFold

Q8C102

Predicted Effect

probably damaging
Transcript: ENSMUST00000112616
AA Change: D538V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108235
Gene: ENSMUSG00000026828
AA Change: D538V

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 damaging
Transcript: ENSMUST00000166729
AA Change: D538V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131362
Gene: ENSMUSG00000026828
AA Change: D538V

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

Meta Mutation Damage Score

0.6246

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (114/118)

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PHENOTYPE: An unpublished knockout mutation is reported to have no overt phenotypic consequences.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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	A	7: 119,945,221 (GRCm39)	N432K	possibly damaging	Het
Abitram	A	G	4: 56,804,230 (GRCm39)	I82V	probably null	Het
Adamtsl5	G	A	10: 80,180,693 (GRCm39)	T123I	probably benign	Het
Aff4	T	C	11: 53,263,702 (GRCm39)	S241P	probably damaging	Het
Agl	A	G	3: 116,552,404 (GRCm39)	L510P		Het
Aox1	A	T	1: 58,329,142 (GRCm39)	K196*	probably null	Het
Arhgef37	A	G	18: 61,637,456 (GRCm39)	L402P	probably damaging	Het
Arid4b	T	C	13: 14,355,891 (GRCm39)		probably null	Het
Atp5pb	A	G	3: 105,851,118 (GRCm39)	V193A	probably benign	Het
Atp8b3	A	G	10: 80,365,463 (GRCm39)		probably null	Het
Baz2a	G	T	10: 127,951,947 (GRCm39)	R555L	probably damaging	Het
Casp4	G	T	9: 5,321,345 (GRCm39)	S32I	possibly damaging	Het
Cd300lb	A	G	11: 114,819,128 (GRCm39)	V167A	probably damaging	Het
Cdc42bpg	C	T	19: 6,368,428 (GRCm39)	T1042I	probably damaging	Het
Ceacam20	T	C	7: 19,704,159 (GRCm39)	F70S	probably damaging	Het
Cep162	C	T	9: 87,074,819 (GRCm39)	V1388I	probably damaging	Het
Cfap65	A	G	1: 74,959,585 (GRCm39)	V855A	possibly damaging	Het
Chil3	G	T	3: 106,063,022 (GRCm39)	D189E	probably benign	Het
Cln3	A	G	7: 126,180,912 (GRCm39)	I43T	probably benign	Het
Cntnap5a	A	G	1: 116,370,110 (GRCm39)	Q909R	probably benign	Het
Ctsd	C	A	7: 141,937,278 (GRCm39)	A77S	probably damaging	Het
Dnah12	T	A	14: 26,445,781 (GRCm39)	S781T	probably benign	Het
Dnah17	T	A	11: 117,981,543 (GRCm39)	Q1716L	probably null	Het
Dock3	C	A	9: 106,772,782 (GRCm39)	M490I	probably benign	Het
Erg	T	C	16: 95,260,015 (GRCm39)		probably null	Het
Farp2	A	T	1: 93,548,950 (GRCm39)	M1019L	possibly damaging	Het
Fcgbp	A	G	7: 27,785,949 (GRCm39)	K462R	probably benign	Het
Fn1	A	T	1: 71,688,384 (GRCm39)	N173K	probably damaging	Het
Fsip2	A	T	2: 82,810,441 (GRCm39)	L2253F	probably damaging	Het
Gabrd	C	T	4: 155,469,970 (GRCm39)	R413H	possibly damaging	Het
Gje1	T	A	10: 14,592,223 (GRCm39)	L186F	probably damaging	Het
Gm16686	A	T	4: 88,673,563 (GRCm39)	C89S	unknown	Het
Gna15	G	T	10: 81,338,831 (GRCm39)	A336E	probably benign	Het
Golga4	C	T	9: 118,388,563 (GRCm39)	S1895L	probably benign	Het
Gon4l	A	T	3: 88,814,829 (GRCm39)	M1933L	probably benign	Het
Gpr183	T	C	14: 122,192,156 (GRCm39)	S122G	possibly damaging	Het
Gtf2h4	G	A	17: 35,980,250 (GRCm39)	T348I	probably damaging	Het
Hace1	T	C	10: 45,481,636 (GRCm39)	Y120H	probably damaging	Het
Hivep2	C	T	10: 14,007,061 (GRCm39)	H1220Y	possibly damaging	Het
Hmx2	T	C	7: 131,156,232 (GRCm39)	F66S	probably benign	Het
Hoxd12	A	T	2: 74,505,569 (GRCm39)	S47C	possibly damaging	Het
Hp	C	A	8: 110,301,832 (GRCm39)		probably null	Het
Idh3a	T	A	9: 54,508,492 (GRCm39)	D355E	probably benign	Het
Itga2b	A	T	11: 102,347,120 (GRCm39)	M921K	probably benign	Het
Jcad	A	G	18: 4,675,529 (GRCm39)	D1097G	probably benign	Het
Kdm5b	A	T	1: 134,523,571 (GRCm39)	T249S	probably benign	Het
Klhl11	G	T	11: 100,355,178 (GRCm39)	H214Q	probably benign	Het
L3hypdh	A	T	12: 72,131,705 (GRCm39)	Y76N	probably damaging	Het
Lama4	G	T	10: 38,921,751 (GRCm39)	R424L	possibly damaging	Het
Lepr	A	G	4: 101,602,853 (GRCm39)	I214V	probably benign	Het
Lipc	G	T	9: 70,709,450 (GRCm39)	N432K	probably benign	Het
Lipm	C	T	19: 34,093,598 (GRCm39)	A216V	possibly damaging	Het
Lrrc23	A	G	6: 124,756,088 (GRCm39)	S2P	unknown	Het
Lyst	T	A	13: 13,812,109 (GRCm39)	D840E	probably benign	Het
Mmp23	T	A	4: 155,736,041 (GRCm39)	T204S	probably damaging	Het
Mms19	T	C	19: 41,936,717 (GRCm39)	T785A	probably benign	Het
Mov10	A	T	3: 104,707,368 (GRCm39)		probably null	Het
Mtf2	A	G	5: 108,248,836 (GRCm39)	T383A	probably benign	Het
Myo5c	G	A	9: 75,158,809 (GRCm39)		probably null	Het
Nfxl1	A	T	5: 72,681,517 (GRCm39)	C671*	probably null	Het
Npepps	A	G	11: 97,103,982 (GRCm39)	V813A	probably benign	Het
Nrn1	C	A	13: 36,910,825 (GRCm39)	W69L	probably damaging	Het
Oprd1	A	C	4: 131,841,378 (GRCm39)	D193E	probably benign	Het
Or2ag1b	T	A	7: 106,288,417 (GRCm39)	I174F	possibly damaging	Het
Or52p1	C	T	7: 104,267,059 (GRCm39)	H58Y	probably damaging	Het
Or55b3	A	T	7: 102,126,883 (GRCm39)	Y65N	probably damaging	Het
Or56b2j	T	A	7: 104,352,796 (GRCm39)	D7E	probably benign	Het
Or6c202	A	G	10: 128,996,620 (GRCm39)	Y78H	possibly damaging	Het
Or6c209	T	C	10: 129,483,027 (GRCm39)	I10T	probably damaging	Het
Or6k6	A	C	1: 173,944,753 (GRCm39)	F276L	probably benign	Het
Pcdhac1	G	T	18: 37,225,550 (GRCm39)	V788L	probably benign	Het
Pcdhb11	G	A	18: 37,556,313 (GRCm39)	V548M	probably damaging	Het
Pde4c	A	T	8: 71,201,621 (GRCm39)	E517V	possibly damaging	Het
Pdzd7	T	C	19: 45,022,086 (GRCm39)	R521G	possibly damaging	Het
Pik3c2a	T	A	7: 115,972,089 (GRCm39)	K780N	probably damaging	Het
Plb1	T	G	5: 32,478,591 (GRCm39)		probably null	Het
Plcb4	T	A	2: 135,842,139 (GRCm39)	L1041Q	probably benign	Het
Pnpla6	G	A	8: 3,566,540 (GRCm39)		probably null	Het
Ppat	A	T	5: 77,063,826 (GRCm39)	N441K	probably damaging	Het
Ppp1r1b	G	A	11: 98,246,305 (GRCm39)	A132T	probably damaging	Het
Prl2c2	A	C	13: 13,172,065 (GRCm39)		probably null	Het
Prr14	T	C	7: 127,074,458 (GRCm39)	I330T	probably benign	Het
Pycr1	T	C	11: 120,533,749 (GRCm39)	D36G	probably benign	Het
Rabep2	T	A	7: 126,037,891 (GRCm39)	I221N	probably damaging	Het
Rad23b	A	G	4: 55,370,469 (GRCm39)	D165G	probably benign	Het
Reln	G	A	5: 22,176,951 (GRCm39)	T1905I	probably damaging	Het
Ripor2	T	C	13: 24,878,188 (GRCm39)	V321A	probably benign	Het
Rnf43	A	G	11: 87,622,678 (GRCm39)	D466G	probably benign	Het
Rpl6	A	T	5: 121,343,655 (GRCm39)	R63W	possibly damaging	Het
S100a14	A	G	3: 90,435,511 (GRCm39)	T102A	probably benign	Het
Samd11	C	A	4: 156,333,857 (GRCm39)	V195L	probably benign	Het
Scaper	G	A	9: 55,669,561 (GRCm39)	Q372*	probably null	Het
Sec14l5	G	T	16: 4,998,739 (GRCm39)	C593F	probably damaging	Het
Sema6d	T	C	2: 124,496,078 (GRCm39)	Y41H	probably damaging	Het
Serac1	G	A	17: 6,119,589 (GRCm39)	R114W	probably damaging	Het
Slc12a4	T	C	8: 106,677,468 (GRCm39)	E388G	probably benign	Het
Smarcd3	T	C	5: 24,800,810 (GRCm39)	T164A	probably benign	Het
Smtn	C	A	11: 3,480,249 (GRCm39)	R324L	probably benign	Het
Spata31d1c	C	T	13: 65,183,175 (GRCm39)	P239L	probably benign	Het
Srcap	T	C	7: 127,137,689 (GRCm39)	V1013A	possibly damaging	Het
Sv2b	T	C	7: 74,773,812 (GRCm39)	N553S	probably damaging	Het
Tex35	T	A	1: 156,932,656 (GRCm39)	N52I	probably damaging	Het
Ticrr	T	C	7: 79,343,734 (GRCm39)	S1200P	probably benign	Het
Tmem19	A	G	10: 115,183,604 (GRCm39)	L125P	probably damaging	Het
Trio	A	G	15: 27,856,193 (GRCm39)	V666A	probably benign	Het
Ttn	T	C	2: 76,747,627 (GRCm39)	D4474G	probably benign	Het
Usp43	A	T	11: 67,783,842 (GRCm39)	S368T	possibly damaging	Het
Vmn2r72	T	A	7: 85,400,348 (GRCm39)	M234L	probably benign	Het
Wdr93	T	A	7: 79,427,055 (GRCm39)		probably null	Het
Wrap73	T	A	4: 154,240,584 (GRCm39)	W359R	probably damaging	Het
Ywhah	A	G	5: 33,183,985 (GRCm39)	I63V	probably benign	Het
Zbtb7b	G	T	3: 89,288,366 (GRCm39)	P151T	probably damaging	Het
Zfp318	A	G	17: 46,710,995 (GRCm39)	N906S	probably damaging	Het
Zfp423	C	A	8: 88,507,341 (GRCm39)	C1001F	probably damaging	Het
Zmym1	A	G	4: 126,943,191 (GRCm39)	I399T	possibly damaging	Het
Zmynd15	G	A	11: 70,353,014 (GRCm39)	G296D	probably benign	Het
Znfx1	T	A	2: 166,890,475 (GRCm39)	I670F	probably 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
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
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'- AGGCTCCTATCTTGGATTTGAG -3'
(R):5'- CAAGAAGAACATGTGGGTATTTCTGG -3'

Sequencing Primer
(F):5'- GGTTAGTTTAGAATATTGAACCCACG -3'
(R):5'- ACATGTGGGTATTTCTGGTTATATTC -3'

Posted On

2019-10-07