Mutagenetix > Incidental Mutation

Incidental Mutation 'R2012:B4galt3'

219846

Institutional Source

Beutler Lab

Gene Symbol

B4galt3

Ensembl Gene

ENSMUSG00000052423

Gene Name

UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 3

Synonyms

ESTM26, 9530061M23Rik, beta4GalT-III, R74981

MMRRC Submission

040021-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.454) question?

Stock #

R2012 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

171097898-171104468 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 171100118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 121 (P121L)

Ref Sequence

ENSEMBL: ENSMUSP00000114560 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064272] [ENSMUST00000073120] [ENSMUST00000111313] [ENSMUST00000126699] [ENSMUST00000141114] [ENSMUST00000151863] [ENSMUST00000141999] [ENSMUST00000192956]

AlphaFold

Q91YY2

Predicted Effect

probably benign
Transcript: ENSMUST00000064272
AA Change: P96L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000066353
Gene: ENSMUSG00000052423
AA Change: P96L

Domain	Start	End	E-Value	Type
transmembrane domain	12	31	N/A	INTRINSIC
low complexity region	61	77	N/A	INTRINSIC
Pfam:Glyco_transf_7N	79	212	1.7e-59	PFAM
Pfam:Glyco_transf_7C	217	294	6.3e-32	PFAM
low complexity region	348	364	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000073120

SMART Domains

Protein: ENSMUSP00000072863
Gene: ENSMUSG00000062729

Domain	Start	End	E-Value	Type
Pfam:NAD_binding_8	7	74	1.3e-9	PFAM
Pfam:Amino_oxidase	12	471	1.7e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111313
AA Change: P96L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000106945
Gene: ENSMUSG00000052423
AA Change: P96L

Domain	Start	End	E-Value	Type
transmembrane domain	12	31	N/A	INTRINSIC
low complexity region	61	77	N/A	INTRINSIC
Pfam:Glyco_transf_7N	79	214	2.1e-74	PFAM
Pfam:Glyco_transf_7C	217	294	1.7e-31	PFAM
Pfam:Glyco_tranf_2_2	238	298	1e-6	PFAM
low complexity region	348	364	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123954

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125939

Predicted Effect

probably benign
Transcript: ENSMUST00000126699

SMART Domains

Protein: ENSMUSP00000141958
Gene: ENSMUSG00000052423

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_7C	1	72	3.2e-28	PFAM
Pfam:Glyco_tranf_2_2	16	76	2.1e-5	PFAM
low complexity region	126	142	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129985

Predicted Effect

probably damaging
Transcript: ENSMUST00000141114
AA Change: P121L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114560
Gene: ENSMUSG00000052423
AA Change: P121L

Domain	Start	End	E-Value	Type
low complexity region	86	102	N/A	INTRINSIC
Pfam:Glyco_transf_7N	104	139	2.6e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132890

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138904

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155083

Predicted Effect

probably benign
Transcript: ENSMUST00000151863

Predicted Effect

probably benign
Transcript: ENSMUST00000141999

SMART Domains

Protein: ENSMUSP00000114926
Gene: ENSMUSG00000052423

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192956

SMART Domains

Protein: ENSMUSP00000141835
Gene: ENSMUSG00000062729

Domain	Start	End	E-Value	Type
Pfam:NAD_binding_8	7	72	1.6e-7	PFAM
Pfam:Amino_oxidase	12	389	4.7e-29	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene encodes an enzyme that may be mainly involved in the synthesis of the first N-acetyllactosamine unit of poly-N-acetyllactosamine chains. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]

Allele List at MGI

Other mutations in this stock

Total: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	A	T	5: 8,167,634 (GRCm39)	S675R	probably damaging	Het
Akap5	A	T	12: 76,376,122 (GRCm39)	H518L	possibly damaging	Het
Ankfn1	T	C	11: 89,296,423 (GRCm39)	D102G	probably damaging	Het
Aox3	A	T	1: 58,177,391 (GRCm39)	Y202F	probably benign	Het
Arhgef37	G	A	18: 61,637,427 (GRCm39)	L412F	possibly damaging	Het
BC034090	C	T	1: 155,097,178 (GRCm39)	R640Q	probably damaging	Het
Bhmt	A	T	13: 93,761,900 (GRCm39)	Y128N	probably damaging	Het
Bin3	A	G	14: 70,372,222 (GRCm39)	E173G	probably damaging	Het
C1qtnf1	T	A	11: 118,339,110 (GRCm39)	F260Y	probably benign	Het
Ccdc14	G	T	16: 34,511,092 (GRCm39)	G22V	possibly damaging	Het
Ccnc	A	T	4: 21,741,955 (GRCm39)	I135L	possibly damaging	Het
Chd3	T	C	11: 69,239,878 (GRCm39)	D1650G	probably benign	Het
Cherp	A	C	8: 73,228,613 (GRCm39)	N14K	probably damaging	Het
Clint1	C	T	11: 45,784,919 (GRCm39)	T306I	possibly damaging	Het
Cyb5r1	T	A	1: 134,335,315 (GRCm39)	Y85N	probably damaging	Het
D830013O20Rik	A	G	12: 73,418,162 (GRCm39)		noncoding transcript	Het
Dapk1	A	T	13: 60,869,671 (GRCm39)	K304N	probably damaging	Het
Dnah6	T	A	6: 73,044,449 (GRCm39)	N3169Y	probably damaging	Het
Dync2h1	A	T	9: 7,169,589 (GRCm39)	I296K	probably benign	Het
Elp2	A	T	18: 24,764,515 (GRCm39)	T621S	probably benign	Het
Eml6	G	T	11: 29,781,128 (GRCm39)	Q635K	possibly damaging	Het
Exph5	G	A	9: 53,278,466 (GRCm39)	M192I	possibly damaging	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Gas6	C	T	8: 13,518,266 (GRCm39)	V523M	probably damaging	Het
Ggn	A	T	7: 28,873,188 (GRCm39)		probably null	Het
Gimap8	A	G	6: 48,633,287 (GRCm39)	T369A	probably damaging	Het
Grm5	T	C	7: 87,724,080 (GRCm39)	I790T	probably damaging	Het
Gtpbp6	G	A	5: 110,252,790 (GRCm39)	A354V	probably damaging	Het
Habp4	G	A	13: 64,317,995 (GRCm39)		probably null	Het
Has2	A	G	15: 56,531,264 (GRCm39)	W484R	probably damaging	Het
Herc4	G	T	10: 63,079,817 (GRCm39)		probably benign	Het
Igf2	C	A	7: 142,208,136 (GRCm39)	E106D	probably damaging	Het
Il17rb	A	T	14: 29,718,797 (GRCm39)	C428*	probably null	Het
Ipo11	A	T	13: 107,056,130 (GRCm39)	N47K	probably benign	Het
Itga4	T	G	2: 79,108,138 (GRCm39)	S197A	probably damaging	Het
Itpr1	T	A	6: 108,417,497 (GRCm39)	M1788K	probably benign	Het
Kbtbd3	C	T	9: 4,330,919 (GRCm39)	T431I	probably benign	Het
Kif5a	A	T	10: 127,075,044 (GRCm39)	V523E	probably benign	Het
Klhl41	A	T	2: 69,513,840 (GRCm39)	D573V	possibly damaging	Het
Kndc1	C	A	7: 139,501,196 (GRCm39)	H828Q	possibly damaging	Het
Leng8	T	A	7: 4,146,609 (GRCm39)	V407D	probably damaging	Het
Mamdc2	C	T	19: 23,288,215 (GRCm39)	E608K	probably benign	Het
Mcf2	T	A	X: 59,122,574 (GRCm39)	R850S	probably damaging	Het
Mmp2	A	G	8: 93,576,831 (GRCm39)	N618S	probably benign	Het
Morn5	A	T	2: 35,942,950 (GRCm39)	M17L	probably benign	Het
Nme8	T	C	13: 19,881,053 (GRCm39)	N26S	probably damaging	Het
Nostrin	C	A	2: 68,975,111 (GRCm39)		probably null	Het
Npy4r	T	A	14: 33,869,154 (GRCm39)	I45F	possibly damaging	Het
Or13a21	T	A	7: 139,999,024 (GRCm39)	I221F	probably damaging	Het
Or1j11	A	G	2: 36,311,931 (GRCm39)	I174V	probably benign	Het
Or2aj5	C	T	16: 19,424,881 (GRCm39)	C179Y	probably benign	Het
Or2w1	T	A	13: 21,317,659 (GRCm39)	M238K	probably benign	Het
Or2w3b	T	C	11: 58,623,214 (GRCm39)	Y259C	possibly damaging	Het
Or4a70	A	G	2: 89,324,342 (GRCm39)	F105L	probably benign	Het
Or5d36	A	G	2: 87,901,063 (GRCm39)	V221A	probably benign	Het
Oxt	A	G	2: 130,418,572 (GRCm39)	D61G	probably damaging	Het
Patl1	T	C	19: 11,917,181 (GRCm39)	L676P	probably damaging	Het
Pcdhb20	G	A	18: 37,638,127 (GRCm39)	G218R	probably damaging	Het
Pdgfrb	T	A	18: 61,194,566 (GRCm39)	S114R	probably benign	Het
Pfdn5	A	G	15: 102,234,956 (GRCm39)	N54S	possibly damaging	Het
Phldb1	G	T	9: 44,639,333 (GRCm39)	T15N	possibly damaging	Het
Pink1	A	C	4: 138,045,316 (GRCm39)	S253A	probably null	Het
Plag1	A	T	4: 3,904,870 (GRCm39)	L107Q	probably damaging	Het
Pld5	C	A	1: 175,791,579 (GRCm39)	V476L	probably benign	Het
Pramel28	A	T	4: 143,692,637 (GRCm39)	D121E	probably benign	Het
Prrt2	C	T	7: 126,618,581 (GRCm39)	A295T	probably damaging	Het
Ptgs1	A	G	2: 36,127,668 (GRCm39)	I76V	probably benign	Het
Ptprz1	A	G	6: 23,001,026 (GRCm39)	T1039A	probably benign	Het
Rbm20	G	A	19: 53,847,859 (GRCm39)	C1135Y	probably damaging	Het
Recql5	A	T	11: 115,787,923 (GRCm39)	N465K	probably benign	Het
Rgs12	A	G	5: 35,187,872 (GRCm39)	S510G	probably benign	Het
Satb1	G	A	17: 52,089,816 (GRCm39)	Q344*	probably null	Het
Sdr16c5	A	G	4: 3,996,244 (GRCm39)	I283T	probably benign	Het
Serpinb3c	T	C	1: 107,199,574 (GRCm39)	S316G	possibly damaging	Het
Siglec1	A	T	2: 130,925,277 (GRCm39)	Y395N	probably damaging	Het
Simc1	A	G	13: 54,651,701 (GRCm39)	I5V	probably benign	Het
Slc27a2	T	C	2: 126,395,535 (GRCm39)	V154A	probably damaging	Het
Slc27a5	A	G	7: 12,731,634 (GRCm39)	L119S	probably damaging	Het
Slc35g2	T	A	9: 100,435,120 (GRCm39)	T184S	possibly damaging	Het
Slc4a7	C	T	14: 14,733,727 (GRCm38)	R46*	probably null	Het
Smcr8	T	C	11: 60,669,010 (GRCm39)	F53L	probably damaging	Het
Spag9	T	A	11: 93,983,201 (GRCm39)	L504*	probably null	Het
Spata31d1a	A	G	13: 59,850,370 (GRCm39)	I586T	possibly damaging	Het
Spata31d1c	A	T	13: 65,183,041 (GRCm39)	E194D	possibly damaging	Het
Spats2	A	G	15: 99,076,375 (GRCm39)	E151G	probably damaging	Het
Sugp2	T	A	8: 70,695,861 (GRCm39)	L278Q	possibly damaging	Het
Sult2a7	T	A	7: 14,207,322 (GRCm39)		probably benign	Het
Syde2	G	T	3: 145,694,163 (GRCm39)	G137V	possibly damaging	Het
Synj1	A	T	16: 90,735,584 (GRCm39)	F1456L	probably damaging	Het
Szt2	A	G	4: 118,220,862 (GRCm39)		probably benign	Het
Timd4	C	A	11: 46,710,857 (GRCm39)	T253K	possibly damaging	Het
Tlr3	G	T	8: 45,855,823 (GRCm39)	T119N	possibly damaging	Het
Tmc6	A	G	11: 117,660,232 (GRCm39)	Y669H	probably damaging	Het
Tmem221	T	C	8: 72,008,458 (GRCm39)	E194G	probably benign	Het
Tmem232	C	A	17: 65,807,167 (GRCm39)	V9F	probably benign	Het
Tpm1	G	A	9: 66,941,247 (GRCm39)	Q135*	probably null	Het
Trank1	A	G	9: 111,194,096 (GRCm39)	T707A	probably benign	Het
Trpm7	A	T	2: 126,665,917 (GRCm39)	Y896*	probably null	Het
Tuba4a	A	T	1: 75,192,983 (GRCm39)	Y210*	probably null	Het
Tut7	A	G	13: 59,959,352 (GRCm39)	V372A	probably damaging	Het
Vegfa	T	G	17: 46,336,284 (GRCm39)	I279L	probably benign	Het
Vmn2r54	T	A	7: 12,349,804 (GRCm39)	T593S	probably damaging	Het
Vmn2r93	A	G	17: 18,536,840 (GRCm39)	I508V	probably benign	Het
Vps33a	G	T	5: 123,669,244 (GRCm39)		probably null	Het
Wasl	T	A	6: 24,624,360 (GRCm39)	N231I	probably damaging	Het
Zbtb39	A	G	10: 127,578,703 (GRCm39)	N426D	probably benign	Het
Zeb2	T	G	2: 44,887,962 (GRCm39)	H350P	probably damaging	Het
Zfp112	T	C	7: 23,824,725 (GRCm39)	F231S	possibly damaging	Het
Zfp180	T	C	7: 23,803,943 (GRCm39)	S121P	probably benign	Het

Other mutations in B4galt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02019:B4galt3	APN	1	171,099,362 (GRCm39)	missense	probably damaging	1.00
BB004:B4galt3	UTSW	1	171,099,342 (GRCm39)	nonsense	probably null
BB014:B4galt3	UTSW	1	171,099,342 (GRCm39)	nonsense	probably null
R0026:B4galt3	UTSW	1	171,101,831 (GRCm39)	unclassified	probably benign
R0126:B4galt3	UTSW	1	171,103,738 (GRCm39)	missense	probably damaging	0.97
R0537:B4galt3	UTSW	1	171,101,821 (GRCm39)	unclassified	probably benign
R1478:B4galt3	UTSW	1	171,103,938 (GRCm39)	missense	probably benign	0.11
R2206:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R2207:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R2223:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R2353:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R2354:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R2438:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R2439:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R3039:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R3051:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R3709:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R3710:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R3741:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R3742:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R3813:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R3953:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R4058:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R4059:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R4323:B4galt3	UTSW	1	171,103,515 (GRCm39)	missense	possibly damaging	0.93
R4367:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R4368:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R4370:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R4371:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R4486:B4galt3	UTSW	1	171,099,343 (GRCm39)	missense	possibly damaging	0.94
R4538:B4galt3	UTSW	1	171,100,280 (GRCm39)	missense	probably damaging	1.00
R5557:B4galt3	UTSW	1	171,100,089 (GRCm39)	critical splice acceptor site	probably null
R7313:B4galt3	UTSW	1	171,100,319 (GRCm39)	missense	probably damaging	1.00
R7927:B4galt3	UTSW	1	171,099,342 (GRCm39)	nonsense	probably null
R8222:B4galt3	UTSW	1	171,100,253 (GRCm39)	missense	possibly damaging	0.46
R8552:B4galt3	UTSW	1	171,101,917 (GRCm39)	missense	possibly damaging	0.70
R8804:B4galt3	UTSW	1	171,103,947 (GRCm39)	missense	probably benign	0.33
R8859:B4galt3	UTSW	1	171,099,241 (GRCm39)	missense	unknown
R9150:B4galt3	UTSW	1	171,103,899 (GRCm39)	missense	probably benign
R9265:B4galt3	UTSW	1	171,101,617 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCATGACGGGAAATCTGAGGC -3'
(R):5'- ATACCTGGTGGATGACATAAATGC -3'

Sequencing Primer
(F):5'- ACGGGAAATCTGAGGCTTGTTAG -3'
(R):5'- CTGGTGGATGACATAAATGCCGTAC -3'

Posted On

2014-08-25