Mutagenetix > Incidental Mutation

Incidental Mutation 'R4670:Galnt4'

348373

Institutional Source

Beutler Lab

Gene Symbol

Galnt4

Ensembl Gene

ENSMUSG00000090035

Gene Name

polypeptide N-acetylgalactosaminyltransferase 4

Synonyms

ppGaNTase-T4

MMRRC Submission

041926-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4670 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98944021-98949109 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98945160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 295 (D295G)

Ref Sequence

ENSEMBL: ENSMUSP00000125315 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020113] [ENSMUST00000159228] [ENSMUST00000159990] [ENSMUST00000161240] [ENSMUST00000219884]

AlphaFold

O08832

Predicted Effect

probably benign
Transcript: ENSMUST00000020113

SMART Domains

Protein: ENSMUSP00000020113
Gene: ENSMUSG00000019952

Domain	Start	End	E-Value	Type
WD40	7	46	1.71e-7	SMART
WD40	49	88	8.68e-9	SMART
WD40	91	130	2.71e-10	SMART
WD40	133	172	2.43e-12	SMART
WD40	175	214	2.07e-6	SMART
WD40	217	256	1.71e-7	SMART
WD40	259	298	7.55e-9	SMART
coiled coil region	428	468	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159228

SMART Domains

Protein: ENSMUSP00000124144
Gene: ENSMUSG00000019952

Domain	Start	End	E-Value	Type
WD40	7	46	1.71e-7	SMART
WD40	49	88	8.68e-9	SMART
WD40	91	130	2.71e-10	SMART
WD40	133	172	2.43e-12	SMART
WD40	175	214	2.07e-6	SMART
WD40	217	256	1.71e-7	SMART
WD40	259	298	7.55e-9	SMART
coiled coil region	401	441	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159990

SMART Domains

Protein: ENSMUSP00000125423
Gene: ENSMUSG00000019952

Domain	Start	End	E-Value	Type
WD40	7	46	8.68e-9	SMART
WD40	49	88	2.71e-10	SMART
WD40	91	130	2.43e-12	SMART
WD40	133	172	2.07e-6	SMART
WD40	175	214	1.71e-7	SMART
WD40	217	256	7.55e-9	SMART
coiled coil region	386	426	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161240
AA Change: D295G

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125315
Gene: ENSMUSG00000090035
AA Change: D295G

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	135	382	4.7e-10	PFAM
Pfam:Glycos_transf_2	138	321	7.5e-38	PFAM
Pfam:Glyco_tranf_2_2	138	368	1e-7	PFAM
Pfam:Glyco_transf_7C	298	367	4.5e-10	PFAM
low complexity region	411	420	N/A	INTRINSIC
RICIN	445	577	2.39e-29	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218379

Predicted Effect

probably benign
Transcript: ENSMUST00000219884

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220019

Meta Mutation Damage Score

0.1220

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (69/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. In vitro, the encoded protein can complement other GalNAc-Ts in the complete O-glycosylation of the mucin-1 tandem repeat and can O-glycosylate the P-selectin glycoprotein ligand-1 molecule. The coding region of this gene is contained within a single exon. Fusion transcripts, which combine part of this gene with the 5' exons of the neighboring POC1B (POC1 centriolar protein homolog B) gene, also exist. [provided by RefSeq, Dec 2010]
PHENOTYPE: An unpublished knockout mutation is reported to have no overt phenotypic consequences. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm5	T	A	7: 119,130,983 (GRCm39)		probably null	Het
Alb	T	A	5: 90,610,665 (GRCm39)	S82T	probably benign	Het
Arf4	A	G	14: 26,374,248 (GRCm39)		probably benign	Het
Arhgap22	T	C	14: 33,084,500 (GRCm39)	C260R	probably damaging	Het
Arhgap32	A	G	9: 32,081,441 (GRCm39)	E153G	probably benign	Het
Arhgef18	T	A	8: 3,484,897 (GRCm39)	M200K	probably damaging	Het
Atp1a4	T	A	1: 172,062,567 (GRCm39)	N647Y	probably benign	Het
Atp5f1c	A	T	2: 10,064,428 (GRCm39)	L226Q	probably damaging	Het
Bcas1	T	C	2: 170,226,245 (GRCm39)	K310R	probably damaging	Het
Cadm3	T	A	1: 173,174,013 (GRCm39)	T67S	probably damaging	Het
Cartpt	C	T	13: 100,036,588 (GRCm39)		probably null	Het
Cenpj	A	T	14: 56,790,840 (GRCm39)	V403E	possibly damaging	Het
Chst7	C	A	X: 19,927,110 (GRCm39)	R386S	probably damaging	Het
Cyp4f37	A	T	17: 32,844,126 (GRCm39)	M77L	probably benign	Het
Dnah7b	A	T	1: 46,117,684 (GRCm39)	D50V	probably damaging	Het
Gin1	C	T	1: 97,712,565 (GRCm39)	P154S	probably damaging	Het
Gm6471	G	A	7: 142,385,360 (GRCm39)		noncoding transcript	Het
Gm6818	T	A	7: 38,101,981 (GRCm39)		noncoding transcript	Het
Gm9271	T	A	7: 39,013,734 (GRCm39)		noncoding transcript	Het
Gpam	A	G	19: 55,084,551 (GRCm39)		probably null	Het
Gpr183	T	C	14: 122,192,149 (GRCm39)	D124G	probably damaging	Het
Ift140	C	A	17: 25,317,935 (GRCm39)		probably benign	Het
Itih5	A	C	2: 10,195,180 (GRCm39)	I191L	probably benign	Het
Jcad	A	G	18: 4,674,175 (GRCm39)	T646A	probably benign	Het
Kank1	T	C	19: 25,387,944 (GRCm39)	M511T	probably benign	Het
Krt74	A	T	15: 101,667,304 (GRCm39)		noncoding transcript	Het
Lrrc37a	A	G	11: 103,395,363 (GRCm39)	S21P	probably benign	Het
Lrrc8c	G	A	5: 105,756,240 (GRCm39)	V672I	probably benign	Het
Lypd4	T	C	7: 24,566,151 (GRCm39)	R58G	probably benign	Het
Magi1	A	T	6: 93,663,624 (GRCm39)		probably null	Het
Mefv	T	A	16: 3,526,071 (GRCm39)	L745F	possibly damaging	Het
Myh13	A	T	11: 67,255,564 (GRCm39)	K1645*	probably null	Het
Naip6	A	G	13: 100,431,239 (GRCm39)		probably null	Het
Nlrp1c-ps	T	C	11: 71,171,382 (GRCm39)		noncoding transcript	Het
Nsmce3	A	T	7: 64,522,530 (GRCm39)	L46Q	probably benign	Het
Or51aa2	A	G	7: 103,188,393 (GRCm39)	V16A	possibly damaging	Het
Or6k6	T	A	1: 173,945,427 (GRCm39)	M52L	probably benign	Het
Or8k37	T	C	2: 86,469,512 (GRCm39)	D180G	possibly damaging	Het
P2ry12	T	C	3: 59,125,325 (GRCm39)		probably null	Het
Pcx	T	A	19: 4,669,916 (GRCm39)	V861E	probably damaging	Het
Pkp3	C	T	7: 140,662,612 (GRCm39)	P75S	probably benign	Het
Plscr4	T	C	9: 92,364,920 (GRCm39)		probably null	Het
Pole	A	G	5: 110,454,253 (GRCm39)	T923A	probably benign	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Rhot2	A	C	17: 26,060,305 (GRCm39)		probably benign	Het
Rsrp1	A	G	4: 134,651,488 (GRCm39)	Y84C	unknown	Het
Sbf2	T	C	7: 109,934,606 (GRCm39)	K1348E	probably damaging	Het
Sgip1	A	T	4: 102,726,951 (GRCm39)	N53Y	probably damaging	Het
Snapc2	A	G	8: 4,304,998 (GRCm39)	T127A	possibly damaging	Het
Snx8	A	G	5: 140,341,713 (GRCm39)		probably null	Het
Spag8	A	G	4: 43,653,378 (GRCm39)		probably benign	Het
Srebf2	T	C	15: 82,076,503 (GRCm39)	F718L	probably damaging	Het
Szt2	C	G	4: 118,233,026 (GRCm39)		probably benign	Het
Traf3ip2	C	T	10: 39,515,256 (GRCm39)	P345S	possibly damaging	Het
Tubgcp4	T	A	2: 121,004,146 (GRCm39)	Y62*	probably null	Het
Usp29	T	A	7: 6,965,914 (GRCm39)	S586T	possibly damaging	Het
Vasp	T	C	7: 18,998,350 (GRCm39)	N108S	probably benign	Het
Vmn1r214	A	G	13: 23,219,141 (GRCm39)	M212V	probably benign	Het
Wipi2	G	C	5: 142,645,345 (GRCm39)	A194P	probably benign	Het
Zbtb4	T	A	11: 69,667,355 (GRCm39)	I220N	probably damaging	Het
Zcchc2	A	T	1: 105,917,996 (GRCm39)		probably benign	Het
Zfp729a	T	A	13: 67,769,534 (GRCm39)	K232*	probably null	Het
Zfp995	A	T	17: 22,106,320 (GRCm39)	M1K	probably null	Het

Other mutations in Galnt4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01359:Galnt4	APN	10	98,945,459 (GRCm39)	missense	probably damaging	1.00
IGL01725:Galnt4	APN	10	98,945,819 (GRCm39)	missense	probably damaging	1.00
IGL01871:Galnt4	APN	10	98,945,103 (GRCm39)	missense	probably damaging	1.00
IGL02146:Galnt4	APN	10	98,945,563 (GRCm39)	missense	possibly damaging	0.87
3-1:Galnt4	UTSW	10	98,945,127 (GRCm39)	missense	probably damaging	1.00
R0041:Galnt4	UTSW	10	98,944,374 (GRCm39)	missense	probably benign	0.08
R1318:Galnt4	UTSW	10	98,945,772 (GRCm39)	missense	probably damaging	0.99
R1466:Galnt4	UTSW	10	98,944,571 (GRCm39)	missense	probably benign	0.43
R1466:Galnt4	UTSW	10	98,944,571 (GRCm39)	missense	probably benign	0.43
R1471:Galnt4	UTSW	10	98,944,536 (GRCm39)	missense	probably benign
R1633:Galnt4	UTSW	10	98,945,814 (GRCm39)	missense	possibly damaging	0.88
R2088:Galnt4	UTSW	10	98,945,046 (GRCm39)	missense	probably damaging	1.00
R2197:Galnt4	UTSW	10	98,944,509 (GRCm39)	missense	probably damaging	1.00
R2363:Galnt4	UTSW	10	98,944,923 (GRCm39)	missense	probably damaging	1.00
R2507:Galnt4	UTSW	10	98,945,148 (GRCm39)	missense	possibly damaging	0.78
R3104:Galnt4	UTSW	10	98,945,243 (GRCm39)	missense	probably benign	0.10
R3106:Galnt4	UTSW	10	98,945,243 (GRCm39)	missense	probably benign	0.10
R4599:Galnt4	UTSW	10	98,945,355 (GRCm39)	missense	probably damaging	1.00
R4756:Galnt4	UTSW	10	98,944,362 (GRCm39)	missense	probably benign
R5660:Galnt4	UTSW	10	98,945,397 (GRCm39)	missense	probably benign	0.16
R5819:Galnt4	UTSW	10	98,945,892 (GRCm39)	missense	probably damaging	1.00
R6441:Galnt4	UTSW	10	98,945,960 (GRCm39)	missense	possibly damaging	0.95
R7184:Galnt4	UTSW	10	98,944,466 (GRCm39)	missense	probably damaging	1.00
R7429:Galnt4	UTSW	10	98,945,610 (GRCm39)	missense	probably damaging	1.00
R7685:Galnt4	UTSW	10	98,945,826 (GRCm39)	missense	probably benign	0.00
R7788:Galnt4	UTSW	10	98,944,975 (GRCm39)	missense	possibly damaging	0.93
R8192:Galnt4	UTSW	10	98,945,118 (GRCm39)	missense	probably benign	0.29
R8896:Galnt4	UTSW	10	98,945,955 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTAACACTGGTTGGTTGGAAC -3'
(R):5'- GCGCGGTATTCTGTAGGAAG -3'

Sequencing Primer
(F):5'- TGTCCTGTCATCGACACT -3'
(R):5'- TTGGGAAACACGTGGCC -3'

Posted On

2015-10-08