Mutagenetix > Incidental Mutation

Incidental Mutation 'R4794:Galnt7'

368858

Institutional Source

Beutler Lab

Gene Symbol

Galnt7

Ensembl Gene

ENSMUSG00000031608

Gene Name

polypeptide N-acetylgalactosaminyltransferase 7

Synonyms

ppGaNTase-T7

MMRRC Submission

042420-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.830) question?

Stock #

R4794 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57976862-58106066 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57998397 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 311 (Y311N)

Ref Sequence

ENSEMBL: ENSMUSP00000105945 (fasta)

Gene Model

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

AlphaFold

Q80VA0

Predicted Effect

probably damaging
Transcript: ENSMUST00000034021
AA Change: Y311N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000034021
Gene: ENSMUSG00000031608
AA Change: Y311N

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

noncoding transcript
Transcript: ENSMUST00000104338

Predicted Effect

probably damaging
Transcript: ENSMUST00000110316
AA Change: Y311N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105945
Gene: ENSMUSG00000031608
AA Change: Y311N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145057

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156907

Meta Mutation Damage Score

0.4698

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.5%

Validation Efficiency

97% (75/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,468,198 (GRCm39)	I141K	probably damaging	Het
Adgrb1	A	G	15: 74,459,978 (GRCm39)	E537G	probably damaging	Het
Asic3	C	T	5: 24,620,895 (GRCm39)	A259V	probably damaging	Het
Bcar1	G	A	8: 112,447,552 (GRCm39)	Q142*	probably null	Het
Bcas3	T	C	11: 85,400,294 (GRCm39)	V200A	probably damaging	Het
Cd302	A	T	2: 60,102,493 (GRCm39)	I42N	probably benign	Het
Colec12	C	A	18: 9,848,984 (GRCm39)	N387K	probably damaging	Het
Copa	T	A	1: 171,946,888 (GRCm39)	I1032N	probably damaging	Het
D630003M21Rik	G	C	2: 158,038,059 (GRCm39)	T1129S	probably benign	Het
D630045J12Rik	G	A	6: 38,171,420 (GRCm39)	T916I	possibly damaging	Het
Dnajb13	C	T	7: 100,153,199 (GRCm39)	A241T	probably damaging	Het
Dyrk4	G	T	6: 126,862,300 (GRCm39)	N397K	possibly damaging	Het
Eftud2	T	A	11: 102,761,003 (GRCm39)	Y114F	probably benign	Het
Elp1	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176 (GRCm39)		probably benign	Het
Epm2a	A	G	10: 11,266,597 (GRCm39)	D114G	probably benign	Het
Exoc5	T	C	14: 49,286,357 (GRCm39)		probably null	Het
Fam135a	G	A	1: 24,068,241 (GRCm39)	T706I	probably benign	Het
Fasn	A	G	11: 120,702,121 (GRCm39)	V1845A	probably benign	Het
Fscn3	A	G	6: 28,430,595 (GRCm39)	E255G	probably damaging	Het
Grid1	T	C	14: 34,544,579 (GRCm39)	L50P	probably damaging	Het
Hepacam2	A	G	6: 3,475,933 (GRCm39)	F331L	probably damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kif1a	T	C	1: 92,953,449 (GRCm39)	Y1245C	probably damaging	Het
Ltbp3	T	C	19: 5,806,707 (GRCm39)	F1022L	probably damaging	Het
Med16	G	T	10: 79,735,951 (GRCm39)	T399N	probably damaging	Het
Mfsd14a	A	T	3: 116,439,155 (GRCm39)		probably benign	Het
Myh7b	G	A	2: 155,465,186 (GRCm39)	V681I	probably benign	Het
Ndc1	A	G	4: 107,247,419 (GRCm39)	E409G	probably benign	Het
Necap2	A	G	4: 140,798,912 (GRCm39)		probably benign	Het
Or2a57	T	A	6: 43,212,629 (GRCm39)	L29H	probably damaging	Het
Or4p21	A	T	2: 88,276,691 (GRCm39)	M197K	probably benign	Het
Or7g29	C	T	9: 19,286,841 (GRCm39)	S112N	probably benign	Het
Parp12	G	A	6: 39,094,744 (GRCm39)	T117I	probably benign	Het
Pars2	C	A	4: 106,511,407 (GRCm39)	C396*	probably null	Het
Prg4	A	T	1: 150,330,297 (GRCm39)		probably benign	Het
Prkg2	G	A	5: 99,114,492 (GRCm39)	T523I	probably damaging	Het
Prph	T	A	15: 98,955,308 (GRCm39)	L425Q	probably damaging	Het
Ranbp9	A	G	13: 43,567,552 (GRCm39)	Y549H	probably damaging	Het
Rbm12	A	T	2: 155,937,489 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,549,183 (GRCm39)	Y75C	probably damaging	Het
Rock2	G	A	12: 16,990,408 (GRCm39)	R110H	probably damaging	Het
Samd1	G	A	8: 84,726,346 (GRCm39)	E468K	probably damaging	Het
Samd11	T	A	4: 156,333,922 (GRCm39)	Q173L	probably damaging	Het
Scgb2b20	C	A	7: 33,065,151 (GRCm39)	G37V	probably damaging	Het
Sf1	C	A	19: 6,425,694 (GRCm39)		probably benign	Het
Slc17a5	T	A	9: 78,481,997 (GRCm39)	H183L	probably damaging	Het
Slco1a7	A	G	6: 141,713,288 (GRCm39)	V31A	probably benign	Het
Smgc	T	A	15: 91,725,657 (GRCm39)	S13T	probably benign	Het
Snapin	A	G	3: 90,398,092 (GRCm39)		probably benign	Het
Spata31e4	C	G	13: 50,857,275 (GRCm39)	P971R	probably benign	Het
Ssc5d	C	T	7: 4,946,744 (GRCm39)	P1033S	probably benign	Het
Strn3	T	C	12: 51,696,954 (GRCm39)	E259G	probably benign	Het
Tbc1d32	A	G	10: 56,072,932 (GRCm39)	F238L	possibly damaging	Het
Tbck	G	A	3: 132,392,729 (GRCm39)	V57M	possibly damaging	Het
Tgm3	A	G	2: 129,883,875 (GRCm39)	D511G	probably benign	Het
Tlr5	T	C	1: 182,801,461 (GRCm39)	V241A	probably benign	Het
Tmem181c-ps	A	G	17: 6,887,754 (GRCm39)		noncoding transcript	Het
Tnfrsf1a	G	A	6: 125,335,047 (GRCm39)	C168Y	probably damaging	Het
Tph2	G	T	10: 115,018,675 (GRCm39)	L79I	possibly damaging	Het
Tsc1	G	A	2: 28,551,702 (GRCm39)		probably null	Het
Ttc14	A	T	3: 33,857,298 (GRCm39)	M215L	probably benign	Het
Ube3c	A	G	5: 29,802,083 (GRCm39)	N120S	probably benign	Het
Ubr2	A	T	17: 47,241,371 (GRCm39)	W1728R	probably damaging	Het
Vnn1	A	G	10: 23,776,602 (GRCm39)	T318A	probably benign	Het
Washc2	T	C	6: 116,235,610 (GRCm39)	V941A	probably benign	Het
Wdfy3	A	G	5: 102,091,809 (GRCm39)	V510A	probably damaging	Het
Wdsub1	A	T	2: 59,693,188 (GRCm39)	V272E	possibly damaging	Het
Xylt1	A	C	7: 117,236,862 (GRCm39)	D537A	probably benign	Het
Zfp57	A	G	17: 37,321,022 (GRCm39)	N292S	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
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
R8894:Galnt7	UTSW	8	57,979,176 (GRCm39)	nonsense	probably null
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'- GTGCAAGGAAAACACTTCTCAC -3'
(R):5'- GGGTCAGCACTAACGTTTTGG -3'

Sequencing Primer
(F):5'- CACAACATCTGGCAAACTAGATGG -3'
(R):5'- TTTTGGTAACGGAAGGATCCAGATAC -3'

Posted On

2016-02-04