Mutagenetix > Incidental Mutation

Incidental Mutation 'R5014:Galnt7'

385432

Institutional Source

Beutler Lab

Gene Symbol

Galnt7

Ensembl Gene

ENSMUSG00000031608

Gene Name

polypeptide N-acetylgalactosaminyltransferase 7

Synonyms

ppGaNTase-T7

MMRRC Submission

042605-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.830) question?

Stock #

R5014 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57976862-58106066 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57998414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 305 (E305G)

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: E305G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034021
Gene: ENSMUSG00000031608
AA Change: E305G

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: E305G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105945
Gene: ENSMUSG00000031608
AA Change: E305G

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

0.9698

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.4%
20x: 91.7%

Validation Efficiency

97% (83/86)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,520,896 (GRCm39)	T1353A	probably benign	Het
Abca8b	A	T	11: 109,840,957 (GRCm39)	I1072N	probably damaging	Het
Atp1a2	T	C	1: 172,112,438 (GRCm39)	T517A	probably benign	Het
Blk	T	G	14: 63,617,236 (GRCm39)	N257T	probably benign	Het
Brd4	A	T	17: 32,417,372 (GRCm39)		probably benign	Het
Calr4	C	T	4: 109,092,994 (GRCm39)	Q25*	probably null	Het
Cbl	T	C	9: 44,065,696 (GRCm39)		probably null	Het
Ccdc30	T	G	4: 119,250,824 (GRCm39)	H6P	possibly damaging	Het
Cd101	A	C	3: 100,911,139 (GRCm39)	Y840D	probably damaging	Het
Cd68	T	A	11: 69,556,165 (GRCm39)	N178Y	probably damaging	Het
Cep350	T	C	1: 155,803,952 (GRCm39)	T1044A	probably benign	Het
Cfap46	A	G	7: 139,207,291 (GRCm39)	V1876A	probably benign	Het
Clec2g	T	A	6: 128,925,765 (GRCm39)	M58K	probably benign	Het
Clip1	T	C	5: 123,755,793 (GRCm39)	E860G	probably damaging	Het
Col18a1	C	T	10: 76,906,794 (GRCm39)		probably null	Het
Cul7	A	G	17: 46,966,868 (GRCm39)	*650W	probably null	Het
Dkk4	C	T	8: 23,115,315 (GRCm39)	A55V	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dnai7	T	C	6: 145,128,992 (GRCm39)	E407G	probably damaging	Het
Dnase1	C	A	16: 3,856,880 (GRCm39)	Y170*	probably null	Het
Dnmt1	A	C	9: 20,823,550 (GRCm39)	I1019S	probably benign	Het
Epha6	T	A	16: 59,486,942 (GRCm39)	H1035L	probably benign	Het
Fam124b	T	C	1: 80,177,776 (GRCm39)	T408A	probably benign	Het
Fam227b	G	A	2: 125,958,043 (GRCm39)	P241S	probably damaging	Het
Garin1b	C	T	6: 29,326,723 (GRCm39)		probably benign	Het
Git1	T	A	11: 77,389,821 (GRCm39)	V28E	probably damaging	Het
Gm10010	C	T	6: 128,177,556 (GRCm39)		noncoding transcript	Het
Gm4956	T	C	1: 21,363,821 (GRCm39)		noncoding transcript	Het
Gpr152	T	G	19: 4,193,506 (GRCm39)	V349G	probably benign	Het
Gtsf1l	C	T	2: 162,929,112 (GRCm39)	V124I	probably damaging	Het
Gucy1b1	C	G	3: 81,953,974 (GRCm39)	G114A	probably benign	Het
Hk2	T	C	6: 82,720,936 (GRCm39)	Q166R	possibly damaging	Het
Hook2	A	G	8: 85,718,006 (GRCm39)	I44M	probably damaging	Het
Ildr1	T	A	16: 36,541,921 (GRCm39)	M222K	probably damaging	Het
Ints6	A	T	14: 62,997,640 (GRCm39)	F55Y	probably benign	Het
Kcnh1	A	G	1: 191,959,388 (GRCm39)	N314S	probably damaging	Het
Lpin3	T	C	2: 160,746,748 (GRCm39)	F748L	probably damaging	Het
Lrsam1	T	C	2: 32,826,407 (GRCm39)		probably benign	Het
Msh2	A	T	17: 88,025,004 (GRCm39)	K627N	possibly damaging	Het
Myrip	A	G	9: 120,251,534 (GRCm39)	Q219R	probably damaging	Het
Ndufb3	T	A	1: 58,630,401 (GRCm39)	W51R	probably damaging	Het
Nfasc	A	T	1: 132,512,185 (GRCm39)		probably benign	Het
Or2c1	T	A	16: 3,656,912 (GRCm39)	I25N	probably benign	Het
Or2h2	T	A	17: 37,396,446 (GRCm39)	I204F	probably benign	Het
Or8s8	T	C	15: 98,354,857 (GRCm39)	V222A	possibly damaging	Het
P3h3	T	A	6: 124,832,199 (GRCm39)	E229V	probably damaging	Het
Ppfia2	T	A	10: 106,701,224 (GRCm39)	L837*	probably null	Het
Ppp2r1a	G	A	17: 21,179,101 (GRCm39)		probably null	Het
Rabgap1	T	A	2: 37,377,152 (GRCm39)	V328E	probably damaging	Het
Ralgapb	G	A	2: 158,337,455 (GRCm39)	R1138Q	probably damaging	Het
Ranbp2	A	T	10: 58,299,942 (GRCm39)	Q498L	probably benign	Het
Rbx1	T	A	15: 81,355,161 (GRCm39)	C56S	probably damaging	Het
Rcan2	T	C	17: 44,328,704 (GRCm39)	F45S	probably damaging	Het
Rgs20	T	C	1: 4,980,770 (GRCm39)	Y185C	probably damaging	Het
Rorc	T	G	3: 94,298,460 (GRCm39)	L315R	probably damaging	Het
Skic2	A	G	17: 35,066,401 (GRCm39)	V194A	probably benign	Het
Slc13a2	T	C	11: 78,290,987 (GRCm39)	K406E	possibly damaging	Het
Slc35g3	T	A	11: 69,651,866 (GRCm39)	K62*	probably null	Het
Sox30	T	C	11: 45,882,736 (GRCm39)	S589P	probably benign	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Ssh2	T	A	11: 77,346,102 (GRCm39)	C1362*	probably null	Het
Tecta	C	T	9: 42,284,538 (GRCm39)	C849Y	probably damaging	Het
Thbs1	T	A	2: 117,950,518 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tut4	T	C	4: 108,384,043 (GRCm39)		probably benign	Het
Tyk2	C	T	9: 21,027,126 (GRCm39)		probably null	Het
Tyw5	C	A	1: 57,446,004 (GRCm39)		probably benign	Het
Vcp	T	C	4: 42,980,828 (GRCm39)	T761A	probably benign	Het
Wdfy4	A	T	14: 32,822,897 (GRCm39)	C1401S	probably benign	Het
Wiz	T	C	17: 32,578,340 (GRCm39)	N391D	probably damaging	Het
Ylpm1	G	A	12: 85,061,523 (GRCm39)	E475K	unknown	Het
Zfp108	G	T	7: 23,960,163 (GRCm39)	K251N	probably benign	Het
Zfp184	A	G	13: 22,142,594 (GRCm39)	D100G	probably benign	Het
Zfp990	T	A	4: 145,264,669 (GRCm39)	C556S	possibly damaging	Het
Zkscan16	C	T	4: 58,951,892 (GRCm39)	P189L	probably 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
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'- CAGGGTCAGCACTAACGTTTTG -3'

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

Posted On

2016-05-10