Mutagenetix > Incidental Mutation

Incidental Mutation 'R9297:Galnt7'

704667

Institutional Source

Beutler Lab

Gene Symbol

Galnt7

Ensembl Gene

ENSMUSG00000031608

Gene Name

polypeptide N-acetylgalactosaminyltransferase 7

Synonyms

ppGaNTase-T7

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.830) question?

Stock #

R9297 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57976862-58106066 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57995555 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 380 (E380G)

Ref Sequence

ENSEMBL: ENSMUSP00000034021 (fasta)

Gene Model

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

AlphaFold

Q80VA0

Predicted Effect

probably damaging
Transcript: ENSMUST00000034021
AA Change: E380G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034021
Gene: ENSMUSG00000031608
AA Change: E380G

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 benign
Transcript: ENSMUST00000110316

SMART Domains

Protein: ENSMUSP00000105945
Gene: ENSMUSG00000031608

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: 98.9%

Validation Efficiency

99% (73/74)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	T	C	16: 85,599,534 (GRCm39)	Q22R	probably benign	Het
Adamts20	A	G	15: 94,301,321 (GRCm39)	S68P	possibly damaging	Het
Adcy6	A	T	15: 98,491,466 (GRCm39)	N1044K	possibly damaging	Het
Ak9	T	G	10: 41,299,081 (GRCm39)	M1594R	unknown	Het
Alkbh3	A	G	2: 93,835,082 (GRCm39)	S88P	probably damaging	Het
Angpt1	A	G	15: 42,301,751 (GRCm39)	I419T	probably benign	Het
Ankrd31	A	T	13: 97,015,085 (GRCm39)	L1451F	probably benign	Het
Ap1b1	T	C	11: 4,990,157 (GRCm39)	I860T	probably benign	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Astn2	T	C	4: 65,460,960 (GRCm39)	D1058G	possibly damaging	Het
Atg3	A	G	16: 44,987,371 (GRCm39)	H48R	possibly damaging	Het
Bnc2	A	C	4: 84,474,136 (GRCm39)		probably benign	Het
Cadps2	A	G	6: 23,496,887 (GRCm39)	Y453H	probably benign	Het
Catsperg1	T	C	7: 28,891,085 (GRCm39)	T653A	probably benign	Het
Ccdc102a	A	G	8: 95,638,120 (GRCm39)	S249P	possibly damaging	Het
Ccdc125	A	G	13: 100,832,920 (GRCm39)	Y499C	probably damaging	Het
Ccdc141	A	G	2: 76,842,028 (GRCm39)	F1468L	probably benign	Het
Ccdc162	C	A	10: 41,506,110 (GRCm39)	M893I	probably benign	Het
Ccdc33	C	A	9: 57,993,876 (GRCm39)	W335L	possibly damaging	Het
Chn2	T	A	6: 54,272,840 (GRCm39)	Y355N	probably damaging	Het
Clec4g	A	G	8: 3,766,500 (GRCm39)	M267T	probably damaging	Het
Cpa6	A	T	1: 10,554,273 (GRCm39)	D111E	possibly damaging	Het
Crlf3	A	G	11: 79,950,031 (GRCm39)	C200R	probably damaging	Het
Cyp4a10	T	C	4: 115,378,375 (GRCm39)	S164P	probably damaging	Het
Def6	A	G	17: 28,436,714 (GRCm39)	N126S	probably damaging	Het
Diaph1	G	A	18: 38,022,828 (GRCm39)	T782I	probably benign	Het
Dnah5	A	C	15: 28,204,054 (GRCm39)		probably benign	Het
Eme1	A	T	11: 94,541,614 (GRCm39)	S69R	probably benign	Het
Fat3	A	T	9: 15,908,996 (GRCm39)	D2335E	probably damaging	Het
Fstl4	A	G	11: 53,024,973 (GRCm39)	K282E	possibly damaging	Het
Gm973	A	T	1: 59,583,829 (GRCm39)	Y204F	probably damaging	Het
Hace1	T	A	10: 45,528,769 (GRCm39)	S337T	probably benign	Het
Ipo8	C	A	6: 148,703,076 (GRCm39)	C416F	possibly damaging	Het
Kcnt2	T	C	1: 140,352,933 (GRCm39)	I214T	probably damaging	Het
Kdelr3	C	A	15: 79,411,275 (GRCm39)	L203I	probably benign	Het
Kif26b	C	T	1: 178,543,374 (GRCm39)	Q336*	probably null	Het
Krt36	A	G	11: 99,994,271 (GRCm39)	Y269H	probably damaging	Het
Lamc1	G	T	1: 153,127,746 (GRCm39)	R386S	probably damaging	Het
Lipc	T	A	9: 70,727,736 (GRCm39)	D122V	probably damaging	Het
Lrba	A	G	3: 86,280,873 (GRCm39)	T1841A	probably damaging	Het
Lrit1	T	A	14: 36,783,993 (GRCm39)	D440E	probably damaging	Het
Map4	T	C	9: 109,882,480 (GRCm39)	I448T	probably benign	Het
Megf8	G	T	7: 25,030,511 (GRCm39)	C488F	probably damaging	Het
Mllt6	A	G	11: 97,563,314 (GRCm39)	E299G	probably damaging	Het
Mpst	G	T	15: 78,294,642 (GRCm39)	V125L	probably damaging	Het
Msx1	G	A	5: 37,981,756 (GRCm39)		probably benign	Het
Muc2	A	G	7: 141,302,759 (GRCm39)	E473G		Het
Myo15a	A	G	11: 60,385,899 (GRCm39)	R602G	probably null	Het
Myod1	A	T	7: 46,026,356 (GRCm39)	H87L	probably damaging	Het
Nid1	T	C	13: 13,650,897 (GRCm39)	V478A	possibly damaging	Het
Obscn	A	T	11: 58,898,359 (GRCm39)	I6634N	unknown	Het
Or52ab7	T	A	7: 102,978,583 (GRCm39)	Y297N	probably damaging	Het
Or52e7	T	C	7: 104,684,830 (GRCm39)	Y142H	probably damaging	Het
Or8k22	A	G	2: 86,163,188 (GRCm39)	Y171H	probably benign	Het
Pdgfrl	C	T	8: 41,391,268 (GRCm39)	S66F	probably damaging	Het
Phf20	G	A	2: 156,115,690 (GRCm39)	R337H	probably benign	Het
Pkhd1	T	A	1: 20,293,118 (GRCm39)	Y2834F	probably benign	Het
Plekhg4	A	C	8: 106,105,907 (GRCm39)	E768A	probably damaging	Het
Prss37	A	T	6: 40,491,909 (GRCm39)	Y224N	probably damaging	Het
Ptprs	A	T	17: 56,765,257 (GRCm39)	V9E	probably damaging	Het
Ptprt	A	G	2: 161,417,698 (GRCm39)	L926S	probably benign	Het
Rgl1	G	A	1: 152,400,454 (GRCm39)	T649I	possibly damaging	Het
Serpinf1	A	G	11: 75,307,251 (GRCm39)	S29P	probably damaging	Het
Skint6	A	T	4: 112,668,717 (GRCm39)	D1119E	probably benign	Het
Snw1	T	C	12: 87,505,674 (GRCm39)	K255E	probably damaging	Het
Sox6	T	C	7: 115,261,557 (GRCm39)	I220V	probably benign	Het
Stimate	T	A	14: 30,588,639 (GRCm39)	V122E	probably damaging	Het
Tas2r114	A	G	6: 131,666,287 (GRCm39)	I247T	probably damaging	Het
Tmem145	C	T	7: 25,008,257 (GRCm39)	T280M	probably damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Zfp219	T	C	14: 52,246,494 (GRCm39)	H211R	probably damaging	Het
Zfp42	T	C	8: 43,748,772 (GRCm39)	N243S	possibly damaging	Het
Zkscan4	T	A	13: 21,668,201 (GRCm39)	S246R	probably benign	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
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
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'- ATTCATCAAAGCGCTGAGGC -3'
(R):5'- CTATGTGGGTCCATACATGTTTCC -3'

Sequencing Primer
(F):5'- CTGCAAGGAGTAAAAGCTCTGTC -3'
(R):5'- GATCTTGCTGCATCATCAACAC -3'

Posted On

2022-03-25