Mutagenetix > Incidental Mutation

Incidental Mutation 'R1869:Galnt3'

210482

Institutional Source

Beutler Lab

Gene Symbol

Galnt3

Ensembl Gene

ENSMUSG00000026994

Gene Name

polypeptide N-acetylgalactosaminyltransferase 3

Synonyms

ppGaNTase-T3

MMRRC Submission

039891-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.380) question?

Stock #

R1869 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65913110-65955217 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65928123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 258 (I258V)

Ref Sequence

ENSEMBL: ENSMUSP00000028378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028378]

AlphaFold

P70419

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028378
AA Change: I258V

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028378
Gene: ENSMUSG00000026994
AA Change: I258V

Domain	Start	End	E-Value	Type
transmembrane domain	20	37	N/A	INTRINSIC
coiled coil region	44	75	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	185	440	8.3e-10	PFAM
Pfam:Glycos_transf_2	188	374	1.2e-35	PFAM
Pfam:Glyco_transf_7C	345	423	7.7e-14	PFAM
RICIN	506	630	2.71e-28	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150793

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153563

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155453

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 92.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases. The protein encoded by this gene is highly homologous to other family members, however the enzymes have different substrate specificities. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased circulating alkaline phosphatase, hypercalcemia, hyperphosphatemia, decreased circulating parathyroid hormone, and male specific postnatal growth retardation, infertility, and increase in bone density. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 127 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	A	G	11: 3,840,067 (GRCm39)	L110P	probably damaging	Het
6030458C11Rik	T	C	15: 12,817,993 (GRCm39)	D168G	probably damaging	Het
Abca13	A	T	11: 9,242,134 (GRCm39)	E1332D	probably benign	Het
Abhd11	A	G	5: 135,040,471 (GRCm39)	Y168C	probably damaging	Het
Actr5	A	C	2: 158,480,643 (GRCm39)	T554P	probably damaging	Het
Adam34l	A	T	8: 44,078,132 (GRCm39)	Y697*	probably null	Het
Adamts16	A	G	13: 70,883,866 (GRCm39)	L1103P	probably damaging	Het
Adgrb3	A	T	1: 25,865,519 (GRCm39)	I108K	possibly damaging	Het
Agbl4	T	A	4: 111,423,826 (GRCm39)	M284K	possibly damaging	Het
Aoc3	T	A	11: 101,222,293 (GRCm39)	Y176*	probably null	Het
Aox1	A	G	1: 58,115,262 (GRCm39)	E749G	probably damaging	Het
Ap4b1	T	A	3: 103,728,184 (GRCm39)	Y399*	probably null	Het
Arhgef5	A	T	6: 43,265,616 (GRCm39)	I1553F	probably damaging	Het
Bag6	T	C	17: 35,361,802 (GRCm39)	V541A	probably benign	Het
Bdp1	A	C	13: 100,178,709 (GRCm39)	V1879G	probably damaging	Het
Bod1l	G	A	5: 41,991,018 (GRCm39)	S179F	possibly damaging	Het
Bsnd	C	T	4: 106,343,833 (GRCm39)	V158I	probably benign	Het
Cachd1	C	A	4: 100,840,587 (GRCm39)	H880N	probably damaging	Het
Ccdc27	T	C	4: 154,111,220 (GRCm39)		probably null	Het
Cd74	C	T	18: 60,943,484 (GRCm39)	P190S	probably benign	Het
Cep68	A	T	11: 20,190,217 (GRCm39)	L265Q	probably damaging	Het
Cfap70	G	A	14: 20,458,678 (GRCm39)	Q772*	probably null	Het
CK137956	T	A	4: 127,864,327 (GRCm39)	S101C	possibly damaging	Het
Clca3a2	G	A	3: 144,512,164 (GRCm39)	T524M	probably benign	Het
Cxcr6	T	C	9: 123,639,022 (GRCm39)	S15P	probably benign	Het
Cyfip2	T	A	11: 46,114,995 (GRCm39)	Y904F	probably benign	Het
D130040H23Rik	T	A	8: 69,755,354 (GRCm39)	I253N	probably benign	Het
Ddx56	C	T	11: 6,213,993 (GRCm39)	V389M	possibly damaging	Het
Dmp1	A	T	5: 104,359,942 (GRCm39)	D206V	probably damaging	Het
Dnah17	A	T	11: 117,938,015 (GRCm39)	C3350*	probably null	Het
Dst	A	T	1: 34,291,913 (GRCm39)	S877C	probably damaging	Het
Ermp1	A	G	19: 29,623,415 (GRCm39)	S192P	possibly damaging	Het
F13b	G	A	1: 139,438,672 (GRCm39)	D359N	probably benign	Het
Fam171a1	A	T	2: 3,227,189 (GRCm39)	Q769L	possibly damaging	Het
Fap	T	C	2: 62,359,071 (GRCm39)	R411G	probably damaging	Het
Fbn1	A	G	2: 125,193,947 (GRCm39)	V1340A	probably benign	Het
Fbxw19	T	C	9: 109,311,100 (GRCm39)	I370V	probably benign	Het
Foxi1	A	T	11: 34,157,937 (GRCm39)	N29K	possibly damaging	Het
Frem2	T	G	3: 53,442,617 (GRCm39)	D2640A	probably benign	Het
Fzd4	T	C	7: 89,056,454 (GRCm39)	V167A	probably benign	Het
Galr2	T	C	11: 116,174,069 (GRCm39)	V233A	possibly damaging	Het
Gldc	G	T	19: 30,116,732 (GRCm39)	Q407K	probably benign	Het
Gmcl1	T	C	6: 86,674,498 (GRCm39)	D460G	probably benign	Het
Gpr89	A	G	3: 96,782,975 (GRCm39)	I325T	probably benign	Het
Grap	T	A	11: 61,555,015 (GRCm39)	Y61N	possibly damaging	Het
Hbs1l	G	T	10: 21,234,305 (GRCm39)		probably null	Het
Hexb	T	A	13: 97,327,767 (GRCm39)	E134D	probably benign	Het
Hydin	T	A	8: 111,227,337 (GRCm39)	V1507D	possibly damaging	Het
Igkv8-16	C	A	6: 70,363,971 (GRCm39)	G17V	probably benign	Het
Kdm4a	T	A	4: 117,996,068 (GRCm39)	Q987L	probably null	Het
Krt76	A	G	15: 101,797,922 (GRCm39)		probably null	Het
Lap3	T	C	5: 45,660,729 (GRCm39)	S238P	probably benign	Het
Letm2	T	C	8: 26,071,729 (GRCm39)	D391G	probably damaging	Het
Lipn	A	G	19: 34,058,139 (GRCm39)	T287A	possibly damaging	Het
Macf1	T	C	4: 123,244,921 (GRCm39)	S466G	probably damaging	Het
Map3k5	C	A	10: 20,007,855 (GRCm39)	S1220*	probably null	Het
Map4	T	A	9: 109,897,996 (GRCm39)	S754R	possibly damaging	Het
Map4	T	C	9: 109,864,032 (GRCm39)	V419A	probably benign	Het
Mroh9	A	G	1: 162,854,082 (GRCm39)	S773P	probably damaging	Het
Mtus1	A	C	8: 41,529,267 (GRCm39)		probably null	Het
Muc1	C	T	3: 89,139,117 (GRCm39)	P533S	probably damaging	Het
Muc13	A	T	16: 33,624,970 (GRCm39)	I282F	probably damaging	Het
Mucl3	A	G	17: 35,949,305 (GRCm39)	L98P	possibly damaging	Het
Myh14	T	A	7: 44,261,067 (GRCm39)	Q1816L	possibly damaging	Het
Nalcn	A	C	14: 123,831,965 (GRCm39)	V103G	possibly damaging	Het
Nlrp9c	G	A	7: 26,084,245 (GRCm39)	Q445*	probably null	Het
Olfml2b	A	G	1: 170,496,812 (GRCm39)	D481G	probably damaging	Het
Or13g1	T	A	7: 85,955,875 (GRCm39)	I149F	possibly damaging	Het
Or2ag19	T	G	7: 106,444,301 (GRCm39)	I161S	probably benign	Het
Or5g23	A	G	2: 85,438,844 (GRCm39)	S137P	probably benign	Het
Or8b37	T	A	9: 37,959,498 (GRCm39)		probably null	Het
Or8k3b	T	A	2: 86,520,735 (GRCm39)	I195F	probably damaging	Het
Pcdhb2	A	T	18: 37,430,408 (GRCm39)		probably null	Het
Pcdhb22	A	C	18: 37,652,200 (GRCm39)	T223P	probably damaging	Het
Pcdhga1	T	A	18: 37,973,143 (GRCm39)	N907K	probably damaging	Het
Pcnt	T	C	10: 76,215,740 (GRCm39)	E2347G	probably null	Het
Phax	T	A	18: 56,706,176 (GRCm39)	V22D	probably benign	Het
Pik3ca	T	C	3: 32,504,499 (GRCm39)	F667S	probably damaging	Het
Pkd1	T	C	17: 24,813,905 (GRCm39)	F4123S	probably damaging	Het
Pkhd1	A	G	1: 20,685,491 (GRCm39)		probably null	Het
Plcb1	G	A	2: 135,152,934 (GRCm39)	R368K	probably benign	Het
Prrc2a	G	T	17: 35,372,284 (GRCm39)	R1739S	possibly damaging	Het
Psg23	A	T	7: 18,348,543 (GRCm39)	M88K	probably benign	Het
Pstk	T	A	7: 130,989,526 (GRCm39)	Y354N	probably damaging	Het
Rab39	A	G	9: 53,617,231 (GRCm39)	I62T	possibly damaging	Het
Ranbp2	A	G	10: 58,328,383 (GRCm39)	I2800V	probably damaging	Het
Rasgrp1	T	C	2: 117,120,828 (GRCm39)	Y431C	probably damaging	Het
Rest	T	A	5: 77,416,209 (GRCm39)	V141E	possibly damaging	Het
Rnf167	T	A	11: 70,540,965 (GRCm39)	I197N	possibly damaging	Het
Rtn1	A	G	12: 72,354,942 (GRCm39)	S335P	probably damaging	Het
Ryr2	G	T	13: 11,676,961 (GRCm39)	R3297S	probably damaging	Het
S1pr3	A	C	13: 51,573,952 (GRCm39)	K378Q	probably benign	Het
Scgb1b24	T	C	7: 33,443,469 (GRCm39)	Y43H	probably damaging	Het
Sh3rf3	T	A	10: 58,919,335 (GRCm39)	M484K	probably damaging	Het
Shank1	A	T	7: 43,991,539 (GRCm39)	R69*	probably null	Het
Siglecf	A	G	7: 43,004,967 (GRCm39)	N399S	probably benign	Het
Slc1a7	A	G	4: 107,865,561 (GRCm39)	T350A	probably damaging	Het
Slc25a54	T	A	3: 108,987,932 (GRCm39)	Y24*	probably null	Het
Slk	T	C	19: 47,613,891 (GRCm39)	F916L	probably damaging	Het
Snap91	T	A	9: 86,672,194 (GRCm39)		probably null	Het
Snrpb2	A	T	2: 142,907,106 (GRCm39)	R25S	possibly damaging	Het
Specc1l	T	C	10: 75,097,659 (GRCm39)	Y811H	probably damaging	Het
Sprr2h	A	G	3: 92,293,925 (GRCm39)		probably benign	Het
Sult2a5	A	T	7: 13,358,045 (GRCm39)	I26F	probably benign	Het
Syt13	C	T	2: 92,776,448 (GRCm39)	T245I	possibly damaging	Het
Tecrl	T	A	5: 83,502,706 (GRCm39)	T33S	probably benign	Het
Telo2	T	A	17: 25,333,968 (GRCm39)	D93V	probably benign	Het
Tet2	A	T	3: 133,187,202 (GRCm39)		probably null	Het
Tgm7	A	T	2: 120,931,570 (GRCm39)	C198S	probably damaging	Het
Ticrr	T	C	7: 79,328,883 (GRCm39)	F674S	probably damaging	Het
Tmem129	C	A	5: 33,811,843 (GRCm39)	C31F	probably damaging	Het
Tmem132a	T	A	19: 10,836,052 (GRCm39)	D826V	possibly damaging	Het
Tpd52	T	C	3: 9,018,862 (GRCm39)		probably null	Het
Trub2	A	G	2: 29,667,678 (GRCm39)	S321P	probably benign	Het
Ttc29	A	G	8: 79,009,014 (GRCm39)	T295A	probably benign	Het
Tubb1	G	A	2: 174,298,482 (GRCm39)	S89N	probably benign	Het
Tut4	T	A	4: 108,386,497 (GRCm39)	F1122L	probably damaging	Het
Ubap2	C	A	4: 41,233,617 (GRCm39)	G91V	probably damaging	Het
Ugt2b35	A	G	5: 87,149,147 (GRCm39)	N133D	probably damaging	Het
Usp34	A	G	11: 23,314,479 (GRCm39)	H807R	probably benign	Het
Vmn1r220	A	C	13: 23,368,457 (GRCm39)	C80G	probably damaging	Het
Vmn1r79	A	G	7: 11,910,574 (GRCm39)	E152G	probably benign	Het
Vmn2r28	T	C	7: 5,489,345 (GRCm39)	Y498C	probably benign	Het
Wif1	A	G	10: 120,920,824 (GRCm39)	I215M	probably benign	Het
Wnk1	T	C	6: 119,928,050 (GRCm39)	T1134A	probably damaging	Het
Zfp90	A	G	8: 107,145,755 (GRCm39)	H29R	probably benign	Het
Zfp972	A	G	2: 177,563,480 (GRCm39)		probably null	Het

Other mutations in Galnt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00479:Galnt3	APN	2	65,925,628 (GRCm39)	missense	probably damaging	1.00
IGL01563:Galnt3	APN	2	65,928,101 (GRCm39)	missense	probably damaging	0.97
IGL01973:Galnt3	APN	2	65,914,606 (GRCm39)	missense	probably benign	0.03
IGL02004:Galnt3	APN	2	65,926,270 (GRCm39)	missense	probably damaging	1.00
IGL02424:Galnt3	APN	2	65,926,132 (GRCm39)	critical splice donor site	probably null
IGL02946:Galnt3	APN	2	65,925,562 (GRCm39)	missense	probably damaging	0.99
IGL03059:Galnt3	APN	2	65,923,954 (GRCm39)	missense	probably damaging	1.00
PIT4531001:Galnt3	UTSW	2	65,937,432 (GRCm39)	missense	probably benign	0.03
R0437:Galnt3	UTSW	2	65,937,573 (GRCm39)	missense	possibly damaging	0.74
R1390:Galnt3	UTSW	2	65,921,567 (GRCm39)	missense	probably damaging	1.00
R1536:Galnt3	UTSW	2	65,914,550 (GRCm39)	missense	probably damaging	1.00
R2987:Galnt3	UTSW	2	65,914,585 (GRCm39)	missense	probably benign	0.00
R3973:Galnt3	UTSW	2	65,937,374 (GRCm39)	missense	possibly damaging	0.77
R4039:Galnt3	UTSW	2	65,915,671 (GRCm39)	missense	probably damaging	0.96
R4515:Galnt3	UTSW	2	65,923,954 (GRCm39)	missense	probably damaging	1.00
R4518:Galnt3	UTSW	2	65,923,954 (GRCm39)	missense	probably damaging	1.00
R4519:Galnt3	UTSW	2	65,923,954 (GRCm39)	missense	probably damaging	1.00
R4577:Galnt3	UTSW	2	65,928,203 (GRCm39)	missense	probably benign	0.02
R4817:Galnt3	UTSW	2	65,923,883 (GRCm39)	missense	possibly damaging	0.83
R5008:Galnt3	UTSW	2	65,915,585 (GRCm39)	missense	probably benign	0.04
R5191:Galnt3	UTSW	2	65,924,050 (GRCm39)	missense	probably damaging	1.00
R5947:Galnt3	UTSW	2	65,914,500 (GRCm39)	utr 3 prime	probably benign
R6534:Galnt3	UTSW	2	65,932,875 (GRCm39)	missense	probably damaging	1.00
R7196:Galnt3	UTSW	2	65,921,268 (GRCm39)	missense	probably damaging	1.00
R7817:Galnt3	UTSW	2	65,926,243 (GRCm39)	missense	probably damaging	1.00
R7951:Galnt3	UTSW	2	65,928,186 (GRCm39)	missense	probably benign	0.00
R7952:Galnt3	UTSW	2	65,928,186 (GRCm39)	missense	probably benign	0.00
R8071:Galnt3	UTSW	2	65,921,555 (GRCm39)	missense	probably benign	0.28
R8513:Galnt3	UTSW	2	65,924,064 (GRCm39)	nonsense	probably null
R8844:Galnt3	UTSW	2	65,915,636 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCTCAATACCTGAAGCTCTGATGC -3'
(R):5'- TGGCTGGCAATCTCGTTAGC -3'

Sequencing Primer
(F):5'- GGCCTGTCATCAGTTAAAGATGC -3'
(R):5'- GGCAATCTCGTTAGCTTTCATG -3'

Posted On

2014-06-30