Mutagenetix > Incidental Mutation

Incidental Mutation 'R5258:B3gnt7'

401219

Institutional Source

Beutler Lab

Gene Symbol

B3gnt7

Ensembl Gene

ENSMUSG00000079445

Gene Name

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7

Synonyms

beta-3GnT7, C330001H22Rik

MMRRC Submission

042828-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

R5258 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86230943-86235027 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86233287 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 61 (K61E)

Ref Sequence

ENSEMBL: ENSMUSP00000140392 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113306] [ENSMUST00000188695]

AlphaFold

Q8K0J2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113306
AA Change: K178E

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108931
Gene: ENSMUSG00000079445
AA Change: K178E

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Galactosyl_T	144	341	1.6e-50	PFAM
Pfam:Fringe	225	357	4.8e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187004

Predicted Effect

possibly damaging
Transcript: ENSMUST00000188695
AA Change: K61E

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140392
Gene: ENSMUSG00000079445
AA Change: K61E

Domain	Start	End	E-Value	Type
Pfam:Galactosyl_T	27	155	1.8e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189618

Meta Mutation Damage Score

0.1111

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,385,266 (GRCm39)	D233V	probably damaging	Het
Abca13	A	T	11: 9,199,684 (GRCm39)	T128S	possibly damaging	Het
Abca16	T	G	7: 120,035,992 (GRCm39)		probably null	Het
Abcc8	T	C	7: 45,757,811 (GRCm39)	I1313V	probably benign	Het
Abcc8	C	T	7: 45,806,572 (GRCm39)	V379I	probably benign	Het
Acp3	T	C	9: 104,186,674 (GRCm39)	I266V	probably benign	Het
Asf1b	C	T	8: 84,695,896 (GRCm39)	T179I	probably benign	Het
Card11	G	A	5: 140,862,180 (GRCm39)	P1039L	possibly damaging	Het
Cd1d2	C	G	3: 86,894,954 (GRCm39)	R147G	possibly damaging	Het
Cfap68	T	C	9: 50,675,633 (GRCm39)		probably benign	Het
Cfap69	T	C	5: 5,654,271 (GRCm39)		probably null	Het
Ddx46	T	C	13: 55,800,837 (GRCm39)	F331L	possibly damaging	Het
Dkk4	C	A	8: 23,117,031 (GRCm39)	L215I	probably damaging	Het
Dnhd1	C	T	7: 105,323,244 (GRCm39)	T584I	probably benign	Het
Dock3	T	C	9: 106,874,124 (GRCm39)	Y449C	probably damaging	Het
Foxi2	C	T	7: 135,012,256 (GRCm39)	T48M	probably benign	Het
Gm12887	T	C	4: 121,472,897 (GRCm39)	K82E	probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Igkv4-80	T	A	6: 68,993,811 (GRCm39)	T27S	probably benign	Het
Invs	A	G	4: 48,396,374 (GRCm39)	D349G	possibly damaging	Het
Lbhd1	A	G	19: 8,861,453 (GRCm39)		probably benign	Het
Lipo3	T	A	19: 33,591,243 (GRCm39)		probably benign	Het
Llgl1	G	C	11: 60,602,389 (GRCm39)		probably null	Het
Lyzl6	T	A	11: 103,525,899 (GRCm39)	I74F	probably damaging	Het
Map3k6	T	C	4: 132,974,953 (GRCm39)	V662A	possibly damaging	Het
Megf8	T	A	7: 25,047,751 (GRCm39)	F1645I	possibly damaging	Het
Mfsd4b2	T	A	10: 39,798,017 (GRCm39)	M113L	probably benign	Het
Mib1	G	A	18: 10,795,856 (GRCm39)		probably null	Het
Mrps6	T	A	16: 91,896,543 (GRCm39)	V36E	probably damaging	Het
Nhsl1	C	A	10: 18,400,070 (GRCm39)	S432*	probably null	Het
Nle1	T	C	11: 82,795,772 (GRCm39)	D225G	probably damaging	Het
Nlrp4c	T	A	7: 6,069,622 (GRCm39)	S508T	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or5d37	A	T	2: 87,923,762 (GRCm39)	Y173N	probably benign	Het
P2rx7	A	G	5: 122,819,066 (GRCm39)	E496G	probably damaging	Het
Prdm16	A	T	4: 154,451,671 (GRCm39)	D179E	possibly damaging	Het
Psca	A	T	15: 74,588,240 (GRCm39)	I56F	probably damaging	Het
Ptprg	A	G	14: 12,142,431 (GRCm38)	T361A	probably benign	Het
Ptrhd1	A	G	12: 4,286,481 (GRCm39)	Y124C	probably damaging	Het
Sesn1	C	T	10: 41,770,984 (GRCm39)	P172S	probably benign	Het
Sspo	T	C	6: 48,453,428 (GRCm39)	V2872A	probably damaging	Het
Stard9	T	A	2: 120,529,824 (GRCm39)	L2027H	probably damaging	Het
Tas2r114	T	A	6: 131,666,504 (GRCm39)	I175F	probably benign	Het
Tex2	T	A	11: 106,458,585 (GRCm39)		probably benign	Het
Tfdp1	C	T	8: 13,419,529 (GRCm39)	T86M	possibly damaging	Het
Trav14-1	C	T	14: 53,791,730 (GRCm39)	H27Y	probably benign	Het
Trim24	A	T	6: 37,896,335 (GRCm39)	Q264L	probably benign	Het
Vmn2r90	A	G	17: 17,933,114 (GRCm39)	I225V	probably benign	Het
Vps13b	A	G	15: 35,794,567 (GRCm39)	T2326A	possibly damaging	Het
Zfp354b	A	C	11: 50,813,917 (GRCm39)	I336S	probably benign	Het
Zfp407	C	T	18: 84,334,051 (GRCm39)	V1761I	probably damaging	Het
Zfp958	A	T	8: 4,678,456 (GRCm39)	E160D	probably benign	Het

Other mutations in B3gnt7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0399:B3gnt7	UTSW	1	86,233,433 (GRCm39)	nonsense	probably null
R0414:B3gnt7	UTSW	1	86,233,351 (GRCm39)	missense	probably damaging	0.98
R4754:B3gnt7	UTSW	1	86,233,279 (GRCm39)	missense	probably benign	0.01
R4780:B3gnt7	UTSW	1	86,232,992 (GRCm39)	missense	probably damaging	1.00
R5338:B3gnt7	UTSW	1	86,233,366 (GRCm39)	missense	probably damaging	1.00
R5815:B3gnt7	UTSW	1	86,233,510 (GRCm39)	missense	probably benign	0.30
R6153:B3gnt7	UTSW	1	86,233,237 (GRCm39)	missense	probably damaging	1.00
R6430:B3gnt7	UTSW	1	86,233,839 (GRCm39)	missense	possibly damaging	0.80
R6919:B3gnt7	UTSW	1	86,233,416 (GRCm39)	missense	probably damaging	1.00
R6972:B3gnt7	UTSW	1	86,233,109 (GRCm39)	start codon destroyed	probably null	0.00
R6973:B3gnt7	UTSW	1	86,233,109 (GRCm39)	start codon destroyed	probably null	0.00
R7048:B3gnt7	UTSW	1	86,233,308 (GRCm39)	missense	probably benign	0.04
R7107:B3gnt7	UTSW	1	86,233,495 (GRCm39)	missense	probably damaging	1.00
R7125:B3gnt7	UTSW	1	86,233,099 (GRCm39)	missense	probably damaging	1.00
R7598:B3gnt7	UTSW	1	86,233,500 (GRCm39)	missense	probably benign	0.40
R8772:B3gnt7	UTSW	1	86,233,294 (GRCm39)	missense	possibly damaging	0.90
R8927:B3gnt7	UTSW	1	86,232,839 (GRCm39)	missense	probably benign	0.30
R8928:B3gnt7	UTSW	1	86,232,839 (GRCm39)	missense	probably benign	0.30
R9572:B3gnt7	UTSW	1	86,233,492 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTCCGACAGTTTCTAGCC -3'
(R):5'- TCACCTTTGAAAACGAAGGGG -3'

Sequencing Primer
(F):5'- CGACAGTTTCTAGCCTATCGG -3'
(R):5'- GGGACGTTGGGACAGTAAATG -3'

Posted On

2016-07-06