Mutagenetix > Incidental Mutation

Incidental Mutation 'R7792:B4galt1'

599925

Institutional Source

Beutler Lab

Gene Symbol

B4galt1

Ensembl Gene

ENSMUSG00000028413

Gene Name

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

Synonyms

beta-1,4-GalT1, beta 1,4-Galactosyltransferase I, b1,4-Galactosyltransferase I, GalT, Ggtb2, B-1,4-GalT1, Ggtb

MMRRC Submission

045848-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7792 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40804602-40854005 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 40809373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 332 (G332S)

Ref Sequence

ENSEMBL: ENSMUSP00000103731 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030121] [ENSMUST00000108096]

AlphaFold

P15535

Predicted Effect

probably benign
Transcript: ENSMUST00000030121

SMART Domains

Protein: ENSMUSP00000030121
Gene: ENSMUSG00000028413

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
low complexity region	73	89	N/A	INTRINSIC
Pfam:Glyco_transf_7N	131	264	3.1e-62	PFAM
Pfam:Glyco_transf_7C	268	346	5.9e-32	PFAM
Pfam:Glyco_tranf_2_2	279	339	4.1e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108096
AA Change: G332S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103731
Gene: ENSMUSG00000028413
AA Change: G332S

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
low complexity region	73	89	N/A	INTRINSIC
Pfam:Glyco_transf_7N	131	266	1.8e-52	PFAM
Pfam:Glyco_transf_7C	268	328	8.7e-26	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (97/97)

MGI Phenotype

FUNCTION: This gene encodes two distinct enzyme isoforms, a long membrane-bound form and a short soluble form. These alternate isoforms are thought to be produced through alternative nested transcription initiation and different in-frame start codon usage. These enzymes catalyze the transfer of galactose to acceptor sugars, such as N-acetylglucosamine and glucose. The long form of this enzyme is localized to the trans-Golgi membrane and is involved in glycoconjugate biosynthesis. The short form functions in lactose biosynthesis though formation of a heterodimer with alpha-lactalbumin. [provided by RefSeq, Nov 2012]
PHENOTYPE: Homozygotes for targeted null mutations exhibit growth retardation, low viability, excessive epithelial cell proliferation of skin and small intestine, sperm with reduced fertilizing capacity, birthing difficulty, and mammary gland defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	G	T	8: 111,769,896 (GRCm39)	V332F	possibly damaging	Het
Abhd15	T	A	11: 77,409,560 (GRCm39)	S425T	probably benign	Het
Acads	A	T	5: 115,250,840 (GRCm39)	F152L	probably damaging	Het
Acp3	T	A	9: 104,204,165 (GRCm39)	H43L	probably damaging	Het
Adora2a	A	G	10: 75,169,480 (GRCm39)	S315G	probably benign	Het
Agxt2	A	T	15: 10,381,472 (GRCm39)	D242V	probably damaging	Het
Alx4	A	G	2: 93,473,056 (GRCm39)	D18G	probably damaging	Het
Ankrd11	A	G	8: 123,610,970 (GRCm39)	S2639P	probably damaging	Het
Arhgap35	A	T	7: 16,295,453 (GRCm39)	V1204D	possibly damaging	Het
Arid2	A	G	15: 96,267,256 (GRCm39)	T579A	probably benign	Het
B4galt4	C	A	16: 38,578,172 (GRCm39)	Y206*	probably null	Het
Bcl2l14	A	T	6: 134,409,277 (GRCm39)	T284S	possibly damaging	Het
Bop1	C	T	15: 76,338,548 (GRCm39)	V465M	probably damaging	Het
Cacna1b	A	T	2: 24,567,977 (GRCm39)	L1037H	probably damaging	Het
Cadm2	G	A	16: 66,568,523 (GRCm39)	T254M	probably benign	Het
Ccdc180	T	C	4: 45,890,389 (GRCm39)		probably null	Het
Ccdc7a	A	T	8: 129,618,918 (GRCm39)	D875E	possibly damaging	Het
Cenpu	A	G	8: 47,015,502 (GRCm39)	D139G	possibly damaging	Het
Cep57l1	A	T	10: 41,598,936 (GRCm39)	C292*	probably null	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Chst14	A	G	2: 118,758,256 (GRCm39)	H350R	probably benign	Het
Clca3a1	T	A	3: 144,455,492 (GRCm39)	I434F	possibly damaging	Het
Crispld2	A	G	8: 120,757,809 (GRCm39)	T385A	probably benign	Het
Crmp1	A	C	5: 37,441,439 (GRCm39)	N507T	probably damaging	Het
Cyp4f40	T	A	17: 32,890,143 (GRCm39)	I271N	probably damaging	Het
D630003M21Rik	G	T	2: 158,052,082 (GRCm39)	Q670K	possibly damaging	Het
Ddx42	T	C	11: 106,127,822 (GRCm39)	I342T	probably damaging	Het
Dnah9	T	A	11: 65,740,839 (GRCm39)	I4116F	probably damaging	Het
Ehd2	T	C	7: 15,684,683 (GRCm39)	H372R	probably benign	Het
Gja8	C	A	3: 96,827,092 (GRCm39)	C190F	probably damaging	Het
Gm8297	A	T	14: 16,165,939 (GRCm39)	D72V	possibly damaging	Het
Golgb1	A	G	16: 36,739,092 (GRCm39)	D2518G	probably benign	Het
Hsd17b12	C	A	2: 93,863,986 (GRCm39)	M285I	probably benign	Het
Hus1	T	C	11: 8,950,133 (GRCm39)	E196G	probably damaging	Het
Ift70a2	T	C	2: 75,807,273 (GRCm39)	N413S	probably benign	Het
Irf2	G	A	8: 47,260,314 (GRCm39)	R82Q	probably damaging	Het
Irx2	A	G	13: 72,779,493 (GRCm39)	D259G	possibly damaging	Het
Jph1	T	A	1: 17,074,602 (GRCm39)	Q472L	probably benign	Het
Kif2a	T	C	13: 107,124,490 (GRCm39)	Q142R	probably benign	Het
Lonp1	T	C	17: 56,929,515 (GRCm39)	Y174C	probably damaging	Het
Mapk14	T	C	17: 28,965,271 (GRCm39)	F348L	probably damaging	Het
Marchf10	G	T	11: 105,281,054 (GRCm39)	D410E	probably benign	Het
Mff	A	T	1: 82,724,802 (GRCm39)		probably null	Het
Mtrex	A	T	13: 113,009,443 (GRCm39)	D985E	probably benign	Het
Necab3	G	A	2: 154,388,200 (GRCm39)	R271C	probably damaging	Het
Nlrp4e	T	A	7: 23,021,182 (GRCm39)	F556L	possibly damaging	Het
Nt5c2	T	C	19: 46,878,385 (GRCm39)	K425E	probably benign	Het
Ofcc1	A	T	13: 40,296,302 (GRCm39)	W511R	probably damaging	Het
Or1j18	A	C	2: 36,624,342 (GRCm39)	E3A	probably benign	Het
Or2v1	T	A	11: 49,025,496 (GRCm39)	I159N	possibly damaging	Het
Or4k77	T	C	2: 111,199,748 (GRCm39)	I257T	probably benign	Het
Or52p2	T	A	7: 102,238,090 (GRCm39)		probably benign	Het
P2rx2	G	C	5: 110,488,210 (GRCm39)	A448G	possibly damaging	Het
Pcnx2	A	T	8: 126,618,757 (GRCm39)	N56K	possibly damaging	Het
Pdzd7	A	C	19: 45,028,657 (GRCm39)	M162R	possibly damaging	Het
Phyhd1	A	G	2: 30,156,782 (GRCm39)	M1V	probably null	Het
Plaat3	T	C	19: 7,556,660 (GRCm39)	C154R	probably benign	Het
Plekha5	A	G	6: 140,534,950 (GRCm39)	E1126G	possibly damaging	Het
Plekhm1	A	T	11: 103,287,886 (GRCm39)	V87D	probably damaging	Het
Pole	G	A	5: 110,445,332 (GRCm39)		probably null	Het
Pramel22	A	G	4: 143,381,123 (GRCm39)	L300P	probably benign	Het
R3hcc1	T	C	14: 69,942,957 (GRCm39)	M207V	probably benign	Het
R3hcc1l	T	A	19: 42,552,403 (GRCm39)	S467T	probably damaging	Het
Rasgrp4	G	T	7: 28,842,527 (GRCm39)	R267L	probably damaging	Het
Rbm20	T	C	19: 53,838,567 (GRCm39)	I848T	probably benign	Het
Rims2	T	C	15: 39,061,923 (GRCm39)	S56P	possibly damaging	Het
Rmc1	G	A	18: 12,314,656 (GRCm39)	D289N	probably damaging	Het
Sacs	T	A	14: 61,447,222 (GRCm39)	D3089E	probably benign	Het
Sall2	C	T	14: 52,553,521 (GRCm39)	G16R	probably damaging	Het
Scgb1b19	G	A	7: 32,987,912 (GRCm39)	C93Y	probably damaging	Het
Scn3a	T	A	2: 65,297,334 (GRCm39)	K1442*	probably null	Het
Sepsecs	A	G	5: 52,801,391 (GRCm39)	S424P	probably damaging	Het
Set	G	T	2: 29,960,323 (GRCm39)	V219F	probably benign	Het
Sh3tc1	A	T	5: 35,868,295 (GRCm39)	F390I	probably damaging	Het
Simc1	G	A	13: 54,695,143 (GRCm39)	V1269M	probably damaging	Het
Ska3	T	G	14: 58,047,512 (GRCm39)	D341A	probably damaging	Het
Slc16a10	A	T	10: 39,913,411 (GRCm39)		probably null	Het
Srgap1	T	A	10: 121,761,872 (GRCm39)	N92I	probably damaging	Het
Sspo	T	C	6: 48,431,624 (GRCm39)	V639A	probably damaging	Het
Stk11	A	T	10: 79,961,271 (GRCm39)		probably benign	Het
Sult5a1	G	A	8: 123,872,180 (GRCm39)	H221Y	probably benign	Het
Sytl3	T	A	17: 7,003,977 (GRCm39)	M559K	probably benign	Het
Tab2	A	C	10: 7,794,897 (GRCm39)	D528E	possibly damaging	Het
Tbc1d15	A	G	10: 115,057,492 (GRCm39)	I218T	possibly damaging	Het
Tenm4	T	A	7: 96,423,221 (GRCm39)	M672K	possibly damaging	Het
Tent4b	A	T	8: 88,979,182 (GRCm39)	Q561L	probably benign	Het
Tfrc	A	G	16: 32,437,985 (GRCm39)	K346R	probably benign	Het
Thsd1	G	T	8: 22,733,114 (GRCm39)	G54W	probably damaging	Het
Tmprss15	A	T	16: 78,800,275 (GRCm39)	L618I	probably damaging	Het
Top3a	T	C	11: 60,633,790 (GRCm39)	S769G	probably benign	Het
Trp63	C	A	16: 25,686,974 (GRCm39)	P396Q	possibly damaging	Het
Uggt1	T	C	1: 36,247,065 (GRCm39)	S311G	probably damaging	Het
Usp10	G	A	8: 120,678,740 (GRCm39)	E574K	possibly damaging	Het
Wfdc6b	T	A	2: 164,459,822 (GRCm39)	I148K	probably damaging	Het
Zcchc2	T	G	1: 105,945,982 (GRCm39)	I474R	probably damaging	Het
Zdhhc2	A	G	8: 40,900,182 (GRCm39)	K82R	probably benign	Het
Zfp273	A	G	13: 67,974,135 (GRCm39)	D421G	possibly damaging	Het
Zfp280d	T	C	9: 72,238,601 (GRCm39)	I639T	probably damaging	Het
Zfp429	A	T	13: 67,538,558 (GRCm39)	C295*	probably null	Het

Other mutations in B4galt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01795:B4galt1	APN	4	40,807,760 (GRCm39)	missense	probably damaging	1.00
periwinkle	UTSW	4	40,807,760 (GRCm39)	missense	probably damaging	1.00
R1589:B4galt1	UTSW	4	40,823,575 (GRCm39)	missense	probably benign	0.28
R3797:B4galt1	UTSW	4	40,807,258 (GRCm39)	missense	probably benign	0.12
R4419:B4galt1	UTSW	4	40,853,537 (GRCm39)	missense	probably benign
R4703:B4galt1	UTSW	4	40,823,569 (GRCm39)	missense	probably benign	0.14
R4727:B4galt1	UTSW	4	40,807,812 (GRCm39)	missense	probably damaging	1.00
R5706:B4galt1	UTSW	4	40,807,268 (GRCm39)	missense	probably damaging	0.97
R5903:B4galt1	UTSW	4	40,807,760 (GRCm39)	missense	probably damaging	1.00
R6860:B4galt1	UTSW	4	40,807,796 (GRCm39)	missense	probably benign	0.00
R6878:B4galt1	UTSW	4	40,809,694 (GRCm39)	missense	probably damaging	1.00
R6943:B4galt1	UTSW	4	40,812,860 (GRCm39)	missense	probably benign	0.00
R7239:B4galt1	UTSW	4	40,812,754 (GRCm39)	missense	probably damaging	1.00
R7479:B4galt1	UTSW	4	40,823,587 (GRCm39)	missense	probably damaging	1.00
R7887:B4galt1	UTSW	4	40,823,501 (GRCm39)	missense	probably benign	0.08
R7923:B4galt1	UTSW	4	40,809,373 (GRCm39)	missense	probably benign	0.00
R8330:B4galt1	UTSW	4	40,812,787 (GRCm39)	missense	probably damaging	1.00
R8968:B4galt1	UTSW	4	40,807,243 (GRCm39)	missense	probably benign
R9450:B4galt1	UTSW	4	40,853,804 (GRCm39)	start codon destroyed	probably null	0.98
R9574:B4galt1	UTSW	4	40,853,766 (GRCm39)	missense	probably benign
R9705:B4galt1	UTSW	4	40,853,474 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ATGCAAGTCTTTGAAAATGAGACGC -3'
(R):5'- ATTAGCACCCAGGAGGCAAG -3'

Sequencing Primer
(F):5'- ATGAGACGCTCACATCTGGG -3'
(R):5'- TAGATCCACGCTCCTGTAGG -3'

Posted On

2019-11-26