Mutagenetix > Incidental Mutation

Incidental Mutation 'R5735:Galnt1'

451679

Institutional Source

Beutler Lab

Gene Symbol

Galnt1

Ensembl Gene

ENSMUSG00000000420

Gene Name

polypeptide N-acetylgalactosaminyltransferase 1

Synonyms

ppGaNTase-T1

MMRRC Submission

043349-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.893) question?

Stock #

R5735 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24338401-24419873 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 24397577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 226 (I226S)

Ref Sequence

ENSEMBL: ENSMUSP00000137427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000430] [ENSMUST00000170243] [ENSMUST00000171583] [ENSMUST00000178605]

AlphaFold

O08912

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000430
AA Change: I226S

PolyPhen 2 Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000000430
Gene: ENSMUSG00000000420
AA Change: I226S

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	116	369	3.2e-11	PFAM
Pfam:Glycos_transf_2	119	303	3.1e-40	PFAM
Pfam:Glyco_transf_7C	281	349	9.1e-10	PFAM
RICIN	426	551	1.25e-32	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164066

SMART Domains

Protein: ENSMUSP00000130238
Gene: ENSMUSG00000000420

Domain	Start	End	E-Value	Type
PDB:2D7R\|A	2	44	6e-6	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170243
AA Change: I226S

PolyPhen 2 Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000132142
Gene: ENSMUSG00000000420
AA Change: I226S

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	116	369	1.7e-12	PFAM
Pfam:Glycos_transf_2	119	303	9.2e-37	PFAM
Pfam:Glyco_tranf_2_2	119	344	7.1e-7	PFAM
Pfam:Glyco_transf_7C	281	349	1.4e-8	PFAM
RICIN	426	551	1.25e-32	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171583

SMART Domains

Protein: ENSMUSP00000131755
Gene: ENSMUSG00000000420

Domain	Start	End	E-Value	Type
transmembrane domain	10	29	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178605
AA Change: I226S

PolyPhen 2 Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000137427
Gene: ENSMUSG00000000420
AA Change: I226S

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	116	369	1.7e-12	PFAM
Pfam:Glycos_transf_2	119	303	9.2e-37	PFAM
Pfam:Glyco_tranf_2_2	119	344	7.1e-7	PFAM
Pfam:Glyco_transf_7C	281	349	1.4e-8	PFAM
RICIN	426	551	1.25e-32	SMART

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.8%
20x: 94.4%

Validation Efficiency

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. Transcript variants derived from this gene that utilize alternative polyA signals have been described in the literature. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit some embryonic lethality, increased bleeding time, decreased T and B cells, impaired leukocyte rolling, decreased IgG levels, and hypoalbuminemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	C	A	13: 70,984,337 (GRCm39)	D109Y	possibly damaging	Het
Armc8	T	A	9: 99,379,447 (GRCm39)		probably null	Het
Atg4b	G	T	1: 93,701,519 (GRCm39)	G71V	probably damaging	Het
Atp10b	A	T	11: 43,042,601 (GRCm39)	M54L	probably benign	Het
Baiap2l1	A	G	5: 144,223,112 (GRCm39)	L75P	probably damaging	Het
Bnc2	A	C	4: 84,210,908 (GRCm39)	L487R	probably damaging	Het
Cacng7	T	C	7: 3,387,539 (GRCm39)	S141P	probably benign	Het
Carmil2	G	A	8: 106,424,663 (GRCm39)	G1361D	probably damaging	Het
Cenpf	T	C	1: 189,386,560 (GRCm39)	I1907V	probably benign	Het
Cep192	T	C	18: 68,013,866 (GRCm39)	V2422A	probably benign	Het
Cfap73	T	A	5: 120,770,671 (GRCm39)	Q33L	probably benign	Het
Cip2a	T	A	16: 48,837,856 (GRCm39)		probably null	Het
Cmtm2a	A	T	8: 105,019,418 (GRCm39)	I57N	probably damaging	Het
Col6a2	T	A	10: 76,435,727 (GRCm39)	D836V	probably benign	Het
Dnah2	A	G	11: 69,321,643 (GRCm39)	V3839A	possibly damaging	Het
Enpp1	A	T	10: 24,530,817 (GRCm39)	F546L	possibly damaging	Het
Eps8l2	A	G	7: 140,940,290 (GRCm39)	T507A	probably damaging	Het
Erg28	C	T	12: 85,862,926 (GRCm39)	E129K	probably benign	Het
Erlec1	A	T	11: 30,900,591 (GRCm39)	N153K	probably benign	Het
Fam234a	T	C	17: 26,432,679 (GRCm39)	E490G	probably damaging	Het
Fat4	C	T	3: 39,003,725 (GRCm39)	R1815C	probably damaging	Het
Ifnl2	T	A	7: 28,209,614 (GRCm39)	I58F	possibly damaging	Het
Itih5	A	G	2: 10,245,572 (GRCm39)	N554D	probably benign	Het
Kcna10	A	G	3: 107,102,394 (GRCm39)	I342V	probably benign	Het
Kif6	G	A	17: 50,139,210 (GRCm39)	E561K	probably damaging	Het
Kl	A	G	5: 150,915,003 (GRCm39)	N910S	possibly damaging	Het
Lpar2	G	T	8: 70,276,385 (GRCm39)	R58L	probably damaging	Het
Macrod2	A	G	2: 140,260,809 (GRCm39)	T27A	possibly damaging	Het
Mfsd2a	A	T	4: 122,843,120 (GRCm39)	V387D	probably damaging	Het
Npas3	A	T	12: 54,050,262 (GRCm39)	T231S	probably benign	Het
Or4a70	A	T	2: 89,323,812 (GRCm39)	N281K	probably damaging	Het
Or52n5	A	T	7: 104,587,966 (GRCm39)	T78S	probably benign	Het
Or5aq1b	A	T	2: 86,901,756 (GRCm39)	C241S	probably damaging	Het
Or8h10	A	G	2: 86,809,044 (GRCm39)	V32A	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pde10a	A	T	17: 9,160,024 (GRCm39)	I432F	probably damaging	Het
Phka2	ACC	AC	X: 159,342,862 (GRCm39)		probably null	Het
Pomt1	G	A	2: 32,133,517 (GRCm39)	G218R	probably damaging	Het
Potefam1	A	T	2: 111,055,837 (GRCm39)	L183*	probably null	Het
Pramel22	A	T	4: 143,381,205 (GRCm39)	C273S	probably damaging	Het
Prdm5	C	T	6: 65,904,974 (GRCm39)	T157I	possibly damaging	Het
Psen2	T	A	1: 180,068,491 (GRCm39)	E54V	probably benign	Het
Ptpn13	C	A	5: 103,702,686 (GRCm39)	H1217Q	probably benign	Het
Ptprt	A	G	2: 161,376,484 (GRCm39)	S1306P	probably damaging	Het
Ptpru	G	T	4: 131,565,401 (GRCm39)	P23T	probably benign	Het
Rtn3	T	C	19: 7,434,057 (GRCm39)	E626G	probably damaging	Het
Scn3a	A	T	2: 65,312,622 (GRCm39)	M1191K	probably damaging	Het
Scn3a	T	A	2: 65,314,803 (GRCm39)	N1086I	probably benign	Het
Sgms2	A	T	3: 131,129,866 (GRCm39)	M174K	probably damaging	Het
Skor1	T	A	9: 63,053,346 (GRCm39)	I180F	probably damaging	Het
Slit2	T	G	5: 48,416,958 (GRCm39)	C1003W	probably damaging	Het
Tbc1d2b	T	A	9: 90,104,462 (GRCm39)	Q560L	possibly damaging	Het
Themis	A	G	10: 28,598,530 (GRCm39)	I51V	probably benign	Het
Tmem203	T	C	2: 25,146,085 (GRCm39)	V135A	probably benign	Het
Tns1	T	C	1: 73,967,138 (GRCm39)	T1212A	probably benign	Het
Trgv5	T	G	13: 19,376,695 (GRCm39)	H47Q	probably benign	Het
Trim2	G	A	3: 84,075,029 (GRCm39)	A697V	probably damaging	Het
Ubxn4	T	C	1: 128,186,677 (GRCm39)	S37P	possibly damaging	Het
Vmn2r17	A	G	5: 109,600,716 (GRCm39)	I671M	possibly damaging	Het
Vmn2r94	G	T	17: 18,464,066 (GRCm39)	S741R	probably damaging	Het
Vwce	C	A	19: 10,624,431 (GRCm39)	D414E	probably benign	Het
Zfp397	T	C	18: 24,093,249 (GRCm39)	S245P	possibly damaging	Het
Zfp747l1	G	T	7: 126,984,579 (GRCm39)	H174Q	possibly damaging	Het
Zfp809	T	A	9: 22,150,227 (GRCm39)	Y241*	probably null	Het
Zfp995	C	T	17: 22,101,010 (GRCm39)	C29Y	probably benign	Het
Zfta	A	G	19: 7,400,161 (GRCm39)	E209G	probably benign	Het
Zfyve26	T	C	12: 79,320,147 (GRCm39)	D1066G	probably damaging	Het

Other mutations in Galnt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01833:Galnt1	APN	18	24,400,617 (GRCm39)	missense	probably damaging	1.00
IGL02373:Galnt1	APN	18	24,413,092 (GRCm39)	missense	possibly damaging	0.68
IGL02998:Galnt1	APN	18	24,397,469 (GRCm39)	missense	probably damaging	1.00
IGL03080:Galnt1	APN	18	24,402,574 (GRCm39)	missense	probably damaging	0.99
debonair	UTSW	18	24,404,686 (GRCm39)	missense	probably damaging	1.00
R0234:Galnt1	UTSW	18	24,387,690 (GRCm39)	missense	probably damaging	1.00
R0234:Galnt1	UTSW	18	24,387,690 (GRCm39)	missense	probably damaging	1.00
R0463:Galnt1	UTSW	18	24,387,582 (GRCm39)	missense	probably benign	0.01
R1183:Galnt1	UTSW	18	24,404,647 (GRCm39)	missense	probably damaging	1.00
R1954:Galnt1	UTSW	18	24,404,831 (GRCm39)	splice site	probably benign
R2349:Galnt1	UTSW	18	24,413,085 (GRCm39)	missense	probably benign	0.03
R3739:Galnt1	UTSW	18	24,404,712 (GRCm39)	missense	probably benign	0.27
R4223:Galnt1	UTSW	18	24,371,413 (GRCm39)	missense	probably benign	0.27
R5001:Galnt1	UTSW	18	24,404,812 (GRCm39)	missense	probably benign
R5410:Galnt1	UTSW	18	24,400,604 (GRCm39)	missense	probably benign	0.02
R5516:Galnt1	UTSW	18	24,413,074 (GRCm39)	missense	probably benign	0.00
R5685:Galnt1	UTSW	18	24,397,586 (GRCm39)	missense	possibly damaging	0.81
R5687:Galnt1	UTSW	18	24,405,807 (GRCm39)	missense	probably benign	0.00
R6106:Galnt1	UTSW	18	24,387,720 (GRCm39)	missense	probably benign	0.31
R6222:Galnt1	UTSW	18	24,397,591 (GRCm39)	critical splice donor site	probably null
R7448:Galnt1	UTSW	18	24,417,866 (GRCm39)	missense	probably benign	0.00
R7489:Galnt1	UTSW	18	24,415,214 (GRCm39)	missense	probably damaging	0.98
R8310:Galnt1	UTSW	18	24,404,686 (GRCm39)	missense	probably damaging	1.00
R8408:Galnt1	UTSW	18	24,400,628 (GRCm39)	missense	probably benign	0.44
R8884:Galnt1	UTSW	18	24,400,641 (GRCm39)	missense	probably benign	0.00
R8989:Galnt1	UTSW	18	24,402,567 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- AAGGAGCCTCACTTAGTGCTC -3'
(R):5'- ACTGCCAGACTTTAAGAAAGAAGTC -3'

Sequencing Primer
(F):5'- GAGCCTCACTTAGTGCTCTGTCAG -3'
(R):5'- AGAAGTCTTATCTGCATTTTGTTTGG -3'

Posted On

2017-01-03