Mutagenetix > Incidental Mutation

Incidental Mutation 'R8894:Galnt7'

677888

Institutional Source

Beutler Lab

Gene Symbol

Galnt7

Ensembl Gene

ENSMUSG00000031608

Gene Name

polypeptide N-acetylgalactosaminyltransferase 7

Synonyms

ppGaNTase-T7

MMRRC Submission

068697-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.830) question?

Stock #

R8894 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57976862-58106066 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 57979176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 649 (W649*)

Ref Sequence

ENSEMBL: ENSMUSP00000034021 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034021] [ENSMUST00000110316]

AlphaFold

Q80VA0

Predicted Effect

probably null
Transcript: ENSMUST00000034021
AA Change: W649*

SMART Domains

Protein: ENSMUSP00000034021
Gene: ENSMUSG00000031608
AA Change: W649*

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	48	62	N/A	INTRINSIC
low complexity region	136	152	N/A	INTRINSIC
Pfam:Glycos_transf_2	210	399	3e-28	PFAM
Pfam:Glyco_tranf_2_2	210	490	2e-7	PFAM
Pfam:Glyco_transf_7C	375	445	1.8e-8	PFAM
RICIN	531	652	3.39e-20	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000110316
AA Change: W649*

SMART Domains

Protein: ENSMUSP00000105945
Gene: ENSMUSG00000031608
AA Change: W649*

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	48	62	N/A	INTRINSIC
low complexity region	136	152	N/A	INTRINSIC
Pfam:Glycos_transf_2	210	399	8.2e-27	PFAM
Pfam:Glyco_tranf_2_2	210	490	1.3e-7	PFAM
Pfam:Glyco_transf_7C	369	445	9.3e-9	PFAM
RICIN	531	652	3.39e-20	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (63/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes GalNAc transferase 7, a member of the GalNAc-transferase family. The enzyme encoded by this gene controls the initiation step of mucin-type O-linked protein glycosylation and transfer of N-acetylgalactosamine to serine and threonine amino acid residues. This enzyme is a type II transmembrane protein and shares common sequence motifs with other family members. Unlike other family members, this enzyme shows exclusive specificity for partially GalNAc-glycosylated acceptor substrates and shows no activity with non-glycosylated peptides. This protein may function as a follow-up enzyme in the initiation step of O-glycosylation. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	C	T	9: 46,216,397 (GRCm39)	V291M	probably benign	Het
Abca14	A	C	7: 119,847,368 (GRCm39)	Y744S	probably damaging	Het
Acly	T	C	11: 100,407,639 (GRCm39)	E237G	probably benign	Het
Adcy1	T	A	11: 7,087,375 (GRCm39)	D416E	probably damaging	Het
Arid1b	T	A	17: 5,377,668 (GRCm39)	M1217K	probably damaging	Het
Atad2b	T	C	12: 5,064,001 (GRCm39)		probably null	Het
Ccdc177	A	G	12: 80,806,077 (GRCm39)	S66P	probably damaging	Het
Clpsl2	T	C	17: 28,769,645 (GRCm39)	C36R	possibly damaging	Het
Cramp1	C	T	17: 25,202,114 (GRCm39)	G456D	probably damaging	Het
Crb1	T	A	1: 139,175,750 (GRCm39)	L744F	possibly damaging	Het
Crybg3	T	A	16: 59,342,552 (GRCm39)	E980D	probably damaging	Het
Cyp2d11	A	T	15: 82,274,671 (GRCm39)	V302E	probably benign	Het
Cyp3a25	A	C	5: 145,931,670 (GRCm39)		probably benign	Het
Dhx35	G	C	2: 158,676,795 (GRCm39)	A410P	possibly damaging	Het
Dlg2	A	T	7: 91,614,946 (GRCm39)	H295L	probably benign	Het
Dnah2	T	A	11: 69,383,048 (GRCm39)	M1172L	probably benign	Het
Dock9	T	C	14: 121,860,373 (GRCm39)	S850G	probably benign	Het
Dst	A	T	1: 34,213,214 (GRCm39)	M1369L	possibly damaging	Het
Fcrl6	T	C	1: 172,426,856 (GRCm39)	N30S	probably benign	Het
Fibp	A	T	19: 5,513,309 (GRCm39)	Q208L	probably benign	Het
Foxc1	T	G	13: 31,992,205 (GRCm39)	S339A	unknown	Het
Fras1	T	C	5: 96,907,402 (GRCm39)	C3196R	probably damaging	Het
H2-M10.2	T	C	17: 36,595,555 (GRCm39)	N245S	possibly damaging	Het
Hapln3	G	A	7: 78,767,239 (GRCm39)	R267W	probably benign	Het
Hkdc1	T	C	10: 62,244,400 (GRCm39)	I229V	probably damaging	Het
Kank1	G	A	19: 25,408,378 (GRCm39)	G1286R	probably damaging	Het
Krba1	A	G	6: 48,388,629 (GRCm39)	I543V	probably damaging	Het
Lipn	A	T	19: 34,062,248 (GRCm39)	*401L	probably null	Het
Lrrc37a	T	C	11: 103,347,449 (GRCm39)	N3082S	unknown	Het
Magi1	A	T	6: 93,663,586 (GRCm39)	F1117Y	probably benign	Het
Man2a1	A	G	17: 65,020,596 (GRCm39)	K791E	probably benign	Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Mpp4	A	G	1: 59,197,743 (GRCm39)		probably null	Het
Muc2	T	G	7: 141,280,758 (GRCm39)	C371W	probably damaging	Het
Nebl	A	T	2: 17,380,036 (GRCm39)	N779K	probably benign	Het
Nf1	T	C	11: 79,336,619 (GRCm39)	L1066P	probably damaging	Het
Npat	T	C	9: 53,467,951 (GRCm39)	L302P	probably damaging	Het
Nudt21	C	A	8: 94,755,498 (GRCm39)	G146W	probably damaging	Het
Or10al6	T	A	17: 38,082,940 (GRCm39)	I132K	probably damaging	Het
Or10g1	A	T	14: 52,647,465 (GRCm39)	L288Q	probably damaging	Het
Or4c11c	T	G	2: 88,661,809 (GRCm39)	M116R	probably benign	Het
Or8c13	A	T	9: 38,091,370 (GRCm39)	F250I	probably damaging	Het
Pkd2l2	T	C	18: 34,571,273 (GRCm39)		probably benign	Het
Plcd3	T	A	11: 102,962,592 (GRCm39)	N620Y	probably damaging	Het
Ppl	T	C	16: 4,925,206 (GRCm39)		probably benign	Het
Pramel41	T	G	5: 94,596,399 (GRCm39)	C479G	probably damaging	Het
Prep	T	C	10: 45,034,620 (GRCm39)	*711Q	probably null	Het
Psap	T	A	10: 60,135,736 (GRCm39)	V394E	possibly damaging	Het
Ptprr	T	A	10: 115,884,250 (GRCm39)	D102E	probably benign	Het
Rgsl1	T	A	1: 153,698,119 (GRCm39)		probably null	Het
Rimbp2	T	A	5: 128,850,454 (GRCm39)	D943V	possibly damaging	Het
Rsrc2	G	T	5: 123,878,793 (GRCm39)	R113S	unknown	Het
Sim1	T	A	10: 50,786,626 (GRCm39)	V286E	possibly damaging	Het
Slc35d1	A	T	4: 103,068,529 (GRCm39)	F124L		Het
Sort1	T	C	3: 108,246,228 (GRCm39)	F402L	probably damaging	Het
Spata31f1a	A	G	4: 42,853,688 (GRCm39)	C47R	possibly damaging	Het
Tlr2	T	A	3: 83,744,091 (GRCm39)	E664V	probably damaging	Het
Tmppe	A	T	9: 114,230,260 (GRCm39)		probably benign	Het
Tnfrsf8	T	C	4: 145,001,038 (GRCm39)	D356G	possibly damaging	Het
Tnrc18	T	C	5: 142,725,212 (GRCm39)	E1839G	unknown	Het
Trgv4	T	C	13: 19,369,627 (GRCm39)	S124P	probably damaging	Het
Trim17	T	A	11: 58,859,536 (GRCm39)	M250K	probably benign	Het
Trim33	C	T	3: 103,218,807 (GRCm39)	L315F	probably damaging	Het
Vmn1r43	A	G	6: 89,846,746 (GRCm39)	S247P	probably benign	Het
Vmn2r33	T	A	7: 7,566,809 (GRCm39)	Y101F	probably benign	Het
Vmn2r40	T	C	7: 8,923,197 (GRCm39)	D388G		Het
Wdr36	C	T	18: 32,970,340 (GRCm39)		probably benign	Het
Zfp2	T	A	11: 50,791,843 (GRCm39)	I67F	possibly damaging	Het

Other mutations in Galnt7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Galnt7	APN	8	57,993,073 (GRCm39)	missense	probably damaging	1.00
IGL00538:Galnt7	APN	8	58,005,556 (GRCm39)	missense	possibly damaging	0.95
IGL00826:Galnt7	APN	8	57,993,105 (GRCm39)	nonsense	probably null
IGL00951:Galnt7	APN	8	58,036,858 (GRCm39)	missense	probably damaging	0.96
IGL01662:Galnt7	APN	8	57,984,769 (GRCm39)	splice site	probably benign
IGL02280:Galnt7	APN	8	57,989,824 (GRCm39)	missense	probably damaging	1.00
IGL02832:Galnt7	APN	8	58,005,531 (GRCm39)	missense	probably damaging	1.00
IGL02936:Galnt7	APN	8	58,037,248 (GRCm39)	missense	probably benign
IGL03083:Galnt7	APN	8	57,979,223 (GRCm39)	missense	probably damaging	0.98
IGL03387:Galnt7	APN	8	57,979,212 (GRCm39)	missense	probably benign	0.01
R0400:Galnt7	UTSW	8	58,037,023 (GRCm39)	missense	probably damaging	0.99
R0553:Galnt7	UTSW	8	58,005,464 (GRCm39)	splice site	probably benign
R1463:Galnt7	UTSW	8	58,105,892 (GRCm39)	missense	probably benign
R1487:Galnt7	UTSW	8	57,993,073 (GRCm39)	missense	probably damaging	1.00
R1791:Galnt7	UTSW	8	57,995,564 (GRCm39)	missense	probably benign	0.05
R1817:Galnt7	UTSW	8	57,991,212 (GRCm39)	missense	probably damaging	1.00
R1962:Galnt7	UTSW	8	57,985,748 (GRCm39)	missense	probably benign	0.13
R3855:Galnt7	UTSW	8	57,985,658 (GRCm39)	splice site	probably benign
R3856:Galnt7	UTSW	8	57,985,658 (GRCm39)	splice site	probably benign
R4232:Galnt7	UTSW	8	58,106,000 (GRCm39)	missense	probably benign
R4396:Galnt7	UTSW	8	57,991,215 (GRCm39)	missense	probably damaging	1.00
R4426:Galnt7	UTSW	8	58,005,606 (GRCm39)	nonsense	probably null
R4610:Galnt7	UTSW	8	57,998,803 (GRCm39)	missense	probably damaging	0.99
R4745:Galnt7	UTSW	8	57,995,761 (GRCm39)	intron	probably benign
R4794:Galnt7	UTSW	8	57,998,397 (GRCm39)	missense	probably damaging	1.00
R5014:Galnt7	UTSW	8	57,998,414 (GRCm39)	missense	probably damaging	1.00
R5177:Galnt7	UTSW	8	58,037,061 (GRCm39)	missense	possibly damaging	0.87
R5682:Galnt7	UTSW	8	58,036,967 (GRCm39)	nonsense	probably null
R6122:Galnt7	UTSW	8	57,979,200 (GRCm39)	missense	probably damaging	0.99
R6276:Galnt7	UTSW	8	57,989,612 (GRCm39)	splice site	probably null
R6684:Galnt7	UTSW	8	57,991,143 (GRCm39)	missense	probably benign	0.16
R6752:Galnt7	UTSW	8	58,105,985 (GRCm39)	missense	probably damaging	1.00
R7464:Galnt7	UTSW	8	58,037,054 (GRCm39)	missense	possibly damaging	0.95
R7491:Galnt7	UTSW	8	58,005,552 (GRCm39)	missense	probably damaging	0.97
R7547:Galnt7	UTSW	8	58,036,996 (GRCm39)	missense	possibly damaging	0.48
R8093:Galnt7	UTSW	8	57,985,739 (GRCm39)	missense	probably benign	0.00
R8221:Galnt7	UTSW	8	58,005,600 (GRCm39)	missense	possibly damaging	0.93
R8248:Galnt7	UTSW	8	57,991,222 (GRCm39)	missense	probably benign	0.34
R8402:Galnt7	UTSW	8	57,995,953 (GRCm39)	missense	probably damaging	0.98
R8779:Galnt7	UTSW	8	58,037,245 (GRCm39)	missense	probably benign
R8974:Galnt7	UTSW	8	58,105,934 (GRCm39)	missense
R9106:Galnt7	UTSW	8	57,985,729 (GRCm39)	missense	probably damaging	1.00
R9297:Galnt7	UTSW	8	57,995,555 (GRCm39)	missense	probably damaging	0.98
X0050:Galnt7	UTSW	8	58,005,478 (GRCm39)	frame shift	probably null
X0062:Galnt7	UTSW	8	58,036,942 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CCCTTCCAACTGATCAGAGAG -3'
(R):5'- TAATGGAATGTGATGCCCTCTTCTG -3'

Sequencing Primer
(F):5'- TTCCAACTGATCAGAGAGGTTCCAG -3'
(R):5'- GTGCAATAGTGTACTCATACGC -3'

Posted On

2021-08-02