Mutagenetix > Incidental Mutation

Incidental Mutation 'R7788:Galnt4'

599678

Institutional Source

Beutler Lab

Gene Symbol

Galnt4

Ensembl Gene

ENSMUSG00000090035

Gene Name

polypeptide N-acetylgalactosaminyltransferase 4

Synonyms

ppGaNTase-T4

MMRRC Submission

045844-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7788 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98944021-98949109 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 98944975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 233 (N233K)

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: N233K

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125315
Gene: ENSMUSG00000090035
AA Change: N233K

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

probably benign
Transcript: ENSMUST00000219884

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (68/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	A	T	14: 68,750,094 (GRCm39)	V442E	possibly damaging	Het
Adgrv1	A	T	13: 81,721,433 (GRCm39)	V715D	probably damaging	Het
Aldh1l1	A	C	6: 90,546,894 (GRCm39)	D399A	probably benign	Het
Ankrd23	T	C	1: 36,570,808 (GRCm39)	N274S	probably damaging	Het
Aopep	A	T	13: 63,304,407 (GRCm39)	H473L	possibly damaging	Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Arpc4	A	T	6: 113,362,565 (GRCm39)	M149L	probably benign	Het
Bdp1	T	C	13: 100,191,759 (GRCm39)	T1407A	possibly damaging	Het
Calml3	A	T	13: 3,854,121 (GRCm39)	I28N	probably damaging	Het
Cdhr3	A	G	12: 33,110,319 (GRCm39)	S322P	probably damaging	Het
Cilk1	G	C	9: 78,074,902 (GRCm39)	V586L	probably benign	Het
Cntn5	A	G	9: 9,704,934 (GRCm39)	S622P	probably benign	Het
Col22a1	A	G	15: 71,824,166 (GRCm39)		probably null	Het
Csf2rb2	A	T	15: 78,177,041 (GRCm39)	I143N	probably benign	Het
Cwh43	T	C	5: 73,572,377 (GRCm39)	L205P	probably damaging	Het
Dennd5b	T	C	6: 148,970,064 (GRCm39)	T52A	probably benign	Het
Dhx40	A	G	11: 86,666,502 (GRCm39)	I597T	possibly damaging	Het
Dnajc21	A	G	15: 10,460,133 (GRCm39)	L268P	probably damaging	Het
Dzip1	A	T	14: 119,120,805 (GRCm39)	D717E	probably benign	Het
Elmo3	A	G	8: 106,034,876 (GRCm39)	N389D	probably damaging	Het
Evi2a	T	C	11: 79,418,768 (GRCm39)	E14G	unknown	Het
Fam149a	T	A	8: 45,834,554 (GRCm39)	R82W	probably damaging	Het
Farp1	A	T	14: 121,513,665 (GRCm39)	E820V	probably benign	Het
Fgd5	T	A	6: 91,965,440 (GRCm39)	S400T	possibly damaging	Het
Flnc	G	A	6: 29,456,443 (GRCm39)	V2214I	possibly damaging	Het
Gbp5	A	G	3: 142,208,841 (GRCm39)	Y128C	probably damaging	Het
Gm4871	G	A	5: 144,969,420 (GRCm39)	T33I	probably benign	Het
Gm5592	T	C	7: 40,936,118 (GRCm39)	S207P	probably benign	Het
Gtf2ird1	A	T	5: 134,445,985 (GRCm39)	C15*	probably null	Het
Ido2	T	A	8: 25,037,242 (GRCm39)	I155F	probably damaging	Het
Ifi27l2b	A	T	12: 103,423,268 (GRCm39)		probably null	Het
Il15ra	C	T	2: 11,728,404 (GRCm39)	T49I	probably damaging	Het
Itpr3	T	A	17: 27,337,571 (GRCm39)	C2460*	probably null	Het
Kcnj11	T	C	7: 45,749,179 (GRCm39)	N48S	probably damaging	Het
Lmo7	A	C	14: 102,136,012 (GRCm39)	N695T	possibly damaging	Het
Mmp15	C	A	8: 96,094,776 (GRCm39)	H217N	probably damaging	Het
Mtcl2	C	T	2: 156,869,504 (GRCm39)	A1044T	probably benign	Het
Muc21	A	T	17: 35,929,798 (GRCm39)	S1463T	unknown	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Myo5c	A	T	9: 75,186,627 (GRCm39)	D991V	probably damaging	Het
Nfkbid	T	A	7: 30,126,603 (GRCm39)	N396K	probably damaging	Het
Oas1c	A	G	5: 120,939,107 (GRCm39)	F361L	probably benign	Het
Or10aa1	A	G	1: 173,869,650 (GRCm39)	I45V	probably benign	Het
Or1e1b-ps1	A	T	11: 73,845,948 (GRCm39)	Y144F	probably benign	Het
Osbpl9	T	C	4: 108,919,691 (GRCm39)	K606E	probably benign	Het
Pkp2	C	A	16: 16,043,272 (GRCm39)	L111I	probably benign	Het
Pogz	A	G	3: 94,782,544 (GRCm39)	Y635C	probably damaging	Het
Prdx2	A	G	8: 85,698,303 (GRCm39)	T165A	probably benign	Het
Ptcd3	T	C	6: 71,862,541 (GRCm39)	I465V	probably benign	Het
Ptprd	G	A	4: 75,916,841 (GRCm39)	T770I	probably damaging	Het
Rapgef6	A	G	11: 54,585,225 (GRCm39)	Y1541C	probably damaging	Het
Rilpl1	A	T	5: 124,634,200 (GRCm39)		probably null	Het
Rimbp3	T	A	16: 17,030,568 (GRCm39)	Y1331N	probably benign	Het
Sav1	T	C	12: 70,030,995 (GRCm39)	R176G	probably damaging	Het
Sirt5	A	G	13: 43,536,623 (GRCm39)	H219R	probably benign	Het
Skint5	T	G	4: 113,403,715 (GRCm39)	D1169A	unknown	Het
Slfn9	G	T	11: 82,873,467 (GRCm39)	Q479K	possibly damaging	Het
Spata31f1e	A	T	4: 42,793,546 (GRCm39)	H195Q	possibly damaging	Het
Susd4	T	C	1: 182,722,767 (GRCm39)	I483T	possibly damaging	Het
Tmem156	C	T	5: 65,232,912 (GRCm39)	V217I	possibly damaging	Het
Tmem79	A	G	3: 88,239,949 (GRCm39)	Y254H	probably benign	Het
Tmprss2	T	A	16: 97,377,429 (GRCm39)	K223*	probably null	Het
Trav3-1	T	C	14: 52,818,581 (GRCm39)	V85A	probably damaging	Het
Ttn	T	C	2: 76,716,100 (GRCm39)		probably null	Het
Vmn2r22	T	C	6: 123,614,559 (GRCm39)	I344V	not run	Het
Vps13c	A	T	9: 67,847,765 (GRCm39)	M2176L	probably benign	Het
Wdfy3	A	T	5: 101,996,223 (GRCm39)	V3213D	probably damaging	Het
Zbtb21	G	A	16: 97,752,654 (GRCm39)	T543M	possibly damaging	Het
Zc3hav1	A	T	6: 38,309,691 (GRCm39)	V377D	probably benign	Het
Zswim3	T	C	2: 164,661,699 (GRCm39)	C60R	probably damaging	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
R4670:Galnt4	UTSW	10	98,945,160 (GRCm39)	missense	possibly damaging	0.60
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
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'- TCTCCAGCTGTGCTTTTAAAGG -3'
(R):5'- TCCCTTTCATGTTTGGGGAC -3'

Sequencing Primer
(F):5'- CTCCAGCTGTGCTTTTAAAGGAGATC -3'
(R):5'- CATGTTTGGGGACAGAATGCCAC -3'

Posted On

2019-11-26