Mutagenetix > Incidental Mutation

Incidental Mutation 'R2035:B3galnt2'

224519

Institutional Source

Beutler Lab

Gene Symbol

B3galnt2

Ensembl Gene

ENSMUSG00000039242

Gene Name

UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2

Synonyms

D230016N13Rik, A930105D20Rik

MMRRC Submission

040042-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2035 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14129059-14173688 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14140909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 44 (F44I)

Ref Sequence

ENSEMBL: ENSMUSP00000152720 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099747] [ENSMUST00000221300] [ENSMUST00000221974] [ENSMUST00000222110] [ENSMUST00000223483]

AlphaFold

Q8BG28

Predicted Effect

probably benign
Transcript: ENSMUST00000099747
AA Change: F44I

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000097336
Gene: ENSMUSG00000039242
AA Change: F44I

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Galactosyl_T	300	460	2.9e-26	PFAM
low complexity region	481	492	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178096

SMART Domains

Protein: ENSMUSP00000136490
Gene: ENSMUSG00000096192

Domain	Start	End	E-Value	Type
BTB	34	145	1.76e-25	SMART
low complexity region	168	176	N/A	INTRINSIC
low complexity region	184	200	N/A	INTRINSIC
low complexity region	241	253	N/A	INTRINSIC
ZnF_C2H2	309	328	5.12e1	SMART
ZnF_C2H2	334	356	7.26e-3	SMART
ZnF_C2H2	362	382	1.26e1	SMART
ZnF_C2H2	390	410	2.41e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221021

Predicted Effect

probably benign
Transcript: ENSMUST00000221300
AA Change: F44I

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000221333

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221764

Predicted Effect

probably benign
Transcript: ENSMUST00000221974
AA Change: F44I

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000222110
AA Change: F44I

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000223483
AA Change: F44I

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223389

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223307

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.9%

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 glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,760,761 (GRCm39)	*1273Q	probably null	Het
Aars2	A	G	17: 45,825,727 (GRCm39)	I348V	possibly damaging	Het
Abca8b	G	A	11: 109,847,932 (GRCm39)	R788C	possibly damaging	Het
Abhd15	T	C	11: 77,406,536 (GRCm39)	L171P	probably damaging	Het
Abi3bp	A	T	16: 56,480,581 (GRCm39)	H686L	probably benign	Het
Acsl1	A	G	8: 46,981,621 (GRCm39)	Y456C	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Ash1l	T	A	3: 88,973,624 (GRCm39)	V2561D	probably benign	Het
Bicra	A	T	7: 15,730,338 (GRCm39)	H24Q	possibly damaging	Het
Ccdc163	T	C	4: 116,568,530 (GRCm39)	S195P	probably damaging	Het
Cd163	A	T	6: 124,297,588 (GRCm39)	K911N	probably damaging	Het
Clcn3	A	T	8: 61,387,632 (GRCm39)	S179T	probably damaging	Het
Dctn4	T	A	18: 60,671,489 (GRCm39)	D120E	possibly damaging	Het
Dnali1	C	T	4: 124,952,903 (GRCm39)	V207M	probably damaging	Het
Dnhd1	A	G	7: 105,354,128 (GRCm39)	Q3036R	probably damaging	Het
Dst	G	A	1: 34,310,494 (GRCm39)	R4098H	probably damaging	Het
Eml5	A	T	12: 98,760,525 (GRCm39)	N1741K	probably benign	Het
Enah	G	A	1: 181,749,537 (GRCm39)	P415L	probably damaging	Het
Entr1	T	A	2: 26,273,639 (GRCm39)	S374C	probably damaging	Het
Ess2	A	G	16: 17,727,950 (GRCm39)		probably null	Het
F8	ATCTCTCTC	ATCTCTC	X: 74,366,604 (GRCm39)		probably null	Het
Gm4841	T	G	18: 60,402,929 (GRCm39)	Y388S	probably benign	Het
Grin3a	T	C	4: 49,771,336 (GRCm39)	T479A	probably damaging	Het
Gucy2e	C	A	11: 69,118,358 (GRCm39)	V743L	probably benign	Het
Il33	T	A	19: 29,932,037 (GRCm39)	N143K	probably damaging	Het
Ism1	T	A	2: 139,599,075 (GRCm39)	S349R	probably damaging	Het
Itgb2	T	A	10: 77,383,033 (GRCm39)	D134E	probably damaging	Het
Kcnk1	A	C	8: 126,752,108 (GRCm39)	N238T	possibly damaging	Het
Kcnu1	G	T	8: 26,386,721 (GRCm39)	V535L	probably benign	Het
Muc19	T	A	15: 91,776,599 (GRCm39)		noncoding transcript	Het
Mycbp2	A	T	14: 103,497,675 (GRCm39)	Y966N	probably damaging	Het
Myo19	A	T	11: 84,788,434 (GRCm39)	M349L	probably benign	Het
Narf	G	A	11: 121,129,326 (GRCm39)	A37T	probably benign	Het
Ncapd2	T	C	6: 125,161,491 (GRCm39)	N208D	probably benign	Het
Nr1i2	A	G	16: 38,071,488 (GRCm39)		probably null	Het
Opn5	A	G	17: 42,918,052 (GRCm39)	I70T	probably damaging	Het
Or52e19	T	A	7: 102,959,463 (GRCm39)	H178Q	probably damaging	Het
Or7a38	T	C	10: 78,753,421 (GRCm39)	V249A	possibly damaging	Het
Pkn2	G	T	3: 142,526,348 (GRCm39)	P410T	probably damaging	Het
Pla2r1	T	C	2: 60,253,080 (GRCm39)	N1337S	probably damaging	Het
Prkd3	A	T	17: 79,282,802 (GRCm39)		probably null	Het
Pum2	T	A	12: 8,778,638 (GRCm39)	Y429*	probably null	Het
Resf1	G	A	6: 149,230,724 (GRCm39)	V1257I	possibly damaging	Het
Rttn	T	A	18: 89,038,340 (GRCm39)	V812E	probably damaging	Het
Rufy2	T	A	10: 62,842,526 (GRCm39)	L483H	probably damaging	Het
Slc35a3	T	A	3: 116,480,972 (GRCm39)	Q97L	probably damaging	Het
St18	A	T	1: 6,872,552 (GRCm39)	M96L	probably benign	Het
Strc	G	A	2: 121,205,415 (GRCm39)	A905V	probably damaging	Het
Syne3	T	C	12: 104,924,386 (GRCm39)	M338V	probably benign	Het
Syngr2	A	G	11: 117,704,186 (GRCm39)	D187G	probably benign	Het
Tas2r109	A	C	6: 132,957,423 (GRCm39)	I169R	probably benign	Het
Tbc1d22a	T	A	15: 86,275,266 (GRCm39)		probably null	Het
Thbs1	T	A	2: 117,948,821 (GRCm39)		probably null	Het
Them6	C	A	15: 74,593,524 (GRCm39)	D127E	probably damaging	Het
Tmem132d	T	C	5: 127,869,522 (GRCm39)	D604G	probably damaging	Het
Tnni1	A	G	1: 135,733,330 (GRCm39)	T51A	probably benign	Het
Topors	T	C	4: 40,262,879 (GRCm39)	N135S	probably damaging	Het
Unc80	A	T	1: 66,645,752 (GRCm39)	D1476V	probably damaging	Het
Vmn1r17	A	G	6: 57,337,573 (GRCm39)	V264A	probably benign	Het
Vmn1r193	T	A	13: 22,403,732 (GRCm39)	T87S	probably benign	Het
Vmn1r202	C	A	13: 22,685,772 (GRCm39)	R215L	probably damaging	Het
Vmn2r24	A	T	6: 123,793,019 (GRCm39)	N782I	probably damaging	Het
Vmn2r53	A	G	7: 12,332,438 (GRCm39)	F404L	possibly damaging	Het
Xpo4	A	T	14: 57,823,383 (GRCm39)	C1036S	possibly damaging	Het
Yae1d1	T	C	13: 18,164,306 (GRCm39)	N104D	probably benign	Het
Zan	C	A	5: 137,442,209 (GRCm39)	R1901L	unknown	Het
Zbtb9	G	A	17: 27,193,897 (GRCm39)	R434H	probably damaging	Het
Zdhhc23	A	C	16: 43,793,871 (GRCm39)	C268G	probably damaging	Het

Other mutations in B3galnt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:B3galnt2	APN	13	14,162,016 (GRCm39)	missense	probably benign	0.15
IGL01149:B3galnt2	APN	13	14,155,270 (GRCm39)	missense	probably benign	0.07
IGL01814:B3galnt2	APN	13	14,161,938 (GRCm39)	missense	probably damaging	1.00
IGL02383:B3galnt2	APN	13	14,171,618 (GRCm39)	makesense	probably null
R0106:B3galnt2	UTSW	13	14,170,378 (GRCm39)	missense	probably benign
R0349:B3galnt2	UTSW	13	14,166,059 (GRCm39)	missense	probably benign
R0676:B3galnt2	UTSW	13	14,170,378 (GRCm39)	missense	probably benign
R1522:B3galnt2	UTSW	13	14,145,354 (GRCm39)	missense	probably damaging	1.00
R1830:B3galnt2	UTSW	13	14,166,119 (GRCm39)	nonsense	probably null
R3686:B3galnt2	UTSW	13	14,150,220 (GRCm39)	critical splice donor site	probably null
R3954:B3galnt2	UTSW	13	14,141,039 (GRCm39)	missense	probably benign	0.04
R5369:B3galnt2	UTSW	13	14,169,010 (GRCm39)	splice site	probably null
R5435:B3galnt2	UTSW	13	14,171,575 (GRCm39)	missense	probably benign	0.01
R5564:B3galnt2	UTSW	13	14,169,814 (GRCm39)	missense	probably damaging	1.00
R5628:B3galnt2	UTSW	13	14,169,737 (GRCm39)	splice site	probably null
R6118:B3galnt2	UTSW	13	14,166,094 (GRCm39)	missense	probably damaging	0.96
R6396:B3galnt2	UTSW	13	14,170,333 (GRCm39)	missense	probably damaging	1.00
R6529:B3galnt2	UTSW	13	14,170,377 (GRCm39)	missense	probably benign	0.00
R6656:B3galnt2	UTSW	13	14,150,161 (GRCm39)	missense	probably benign	0.00
R7345:B3galnt2	UTSW	13	14,155,065 (GRCm39)	splice site	probably null
R7439:B3galnt2	UTSW	13	14,169,070 (GRCm39)	missense	probably benign	0.34
R7441:B3galnt2	UTSW	13	14,169,070 (GRCm39)	missense	probably benign	0.34
R7582:B3galnt2	UTSW	13	14,165,986 (GRCm39)	missense	probably damaging	1.00
R7849:B3galnt2	UTSW	13	14,169,077 (GRCm39)	missense	probably benign	0.15
R8135:B3galnt2	UTSW	13	14,145,454 (GRCm39)	critical splice donor site	probably null
R9216:B3galnt2	UTSW	13	14,165,423 (GRCm39)	missense	probably benign	0.08
R9229:B3galnt2	UTSW	13	14,166,107 (GRCm39)	missense	probably damaging	1.00
R9350:B3galnt2	UTSW	13	14,170,393 (GRCm39)	missense	probably damaging	1.00
R9422:B3galnt2	UTSW	13	14,150,136 (GRCm39)	missense	probably benign	0.36

Predicted Primers

PCR Primer
(F):5'- GATACCAAAAGCCTGTATACCAATG -3'
(R):5'- TCAATTCTTGAACCAGGTTAGGG -3'

Sequencing Primer
(F):5'- GCCTGTATACCAATGTTAGTTGTAC -3'
(R):5'- CTTGAACCAGGTTAGGGAATAATTC -3'

Posted On

2014-08-25