Mutagenetix > Incidental Mutation

Incidental Mutation 'R8017:Xxylt1'

656314

Institutional Source

Beutler Lab

Gene Symbol

Xxylt1

Ensembl Gene

ENSMUSG00000047434

Gene Name

xyloside xylosyltransferase 1

Synonyms

AI480653

MMRRC Submission

067457-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8017 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30774165-30900250 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30826637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 226 (L226P)

Ref Sequence

ENSEMBL: ENSMUSP00000050246 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055389]

AlphaFold

Q3U4G3

Predicted Effect

probably damaging
Transcript: ENSMUST00000055389
AA Change: L226P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050246
Gene: ENSMUSG00000047434
AA Change: L226P

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
low complexity region	58	87	N/A	INTRINSIC
Pfam:Glyco_transf_8	103	369	6.8e-10	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

95% (36/38)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aar2	T	G	2: 156,397,876 (GRCm39)	I296S	probably benign	Het
Acsl5	A	G	19: 55,257,228 (GRCm39)	I42V	probably benign	Het
Adam25	T	A	8: 41,207,124 (GRCm39)	M130K	possibly damaging	Het
Atosb	A	T	4: 43,034,413 (GRCm39)	F394Y	probably damaging	Het
Bcl2l2	T	A	14: 55,121,840 (GRCm39)	M1K	probably null	Het
Cdh16	T	C	8: 105,342,899 (GRCm39)	N724S	probably damaging	Het
Cfi	T	C	3: 129,648,748 (GRCm39)	S211P	probably benign	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Crybg2	T	A	4: 133,800,484 (GRCm39)	V239E	possibly damaging	Het
Dcn	G	A	10: 97,319,397 (GRCm39)	R58Q	probably damaging	Het
Dnah10	A	G	5: 124,877,949 (GRCm39)	N2678S	probably benign	Het
Dnai7	A	G	6: 145,140,283 (GRCm39)	S173P	probably damaging	Het
Fbxo24	C	A	5: 137,611,073 (GRCm39)	M572I	probably benign	Het
Hnrnpul1	T	C	7: 25,447,889 (GRCm39)	E145G	probably benign	Het
Ica1	A	G	6: 8,658,286 (GRCm39)	V277A	probably benign	Het
Idi1	G	A	13: 8,937,974 (GRCm39)	S140N	probably benign	Het
Kank1	TGCGA	T	19: 25,388,568 (GRCm39)		probably null	Het
Kank1	GCGAACG	GCG	19: 25,388,569 (GRCm39)		probably null	Het
Kif20b	T	C	19: 34,917,279 (GRCm39)	V603A	probably damaging	Het
Klc2	T	C	19: 5,161,867 (GRCm39)	K276R	probably benign	Het
Lmbrd2	T	A	15: 9,172,317 (GRCm39)	N370K	probably benign	Het
Map2k5	G	T	9: 63,246,403 (GRCm39)	A108D	probably damaging	Het
Obox2	T	C	7: 15,130,974 (GRCm39)	S69P	possibly damaging	Het
Or2w2	G	A	13: 21,758,648 (GRCm39)		probably benign	Het
Or4b1d	A	C	2: 89,969,170 (GRCm39)	F104L	probably benign	Het
Or4f57	G	A	2: 111,790,918 (GRCm39)	P167S	probably damaging	Het
Pcdhga8	A	G	18: 37,860,783 (GRCm39)	E613G	probably damaging	Het
Pira2	A	T	7: 3,844,696 (GRCm39)	F445Y	probably benign	Het
Rab2a	T	C	4: 8,604,444 (GRCm39)		probably null	Het
Rsph4a	A	C	10: 33,785,455 (GRCm39)	R455S	probably damaging	Het
Spata31f1a	T	C	4: 42,850,840 (GRCm39)	T439A	probably damaging	Het
St6gal1	G	A	16: 23,176,585 (GRCm39)	A393T	probably benign	Het
Tmem151a	T	C	19: 5,132,588 (GRCm39)	E206G	probably damaging	Het
Tmem156	C	T	5: 65,231,204 (GRCm39)	C222Y	probably damaging	Het
Tnfrsf11b	C	T	15: 54,117,598 (GRCm39)	W219*	probably null	Het
Ttc36	T	C	9: 44,710,898 (GRCm39)	E144G	probably damaging	Het
Ttn	C	T	2: 76,597,801 (GRCm39)	R19704H	probably damaging	Het
Wdr17	A	C	8: 55,091,403 (GRCm39)	I1137S	possibly damaging	Het
Zbtb8b	G	A	4: 129,322,238 (GRCm39)	R408W	probably damaging	Het
Zfp268	A	G	4: 145,349,138 (GRCm39)	T192A	probably benign	Het
Zfp873	T	A	10: 81,896,193 (GRCm39)	V308E	probably benign	Het

Other mutations in Xxylt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0387:Xxylt1	UTSW	16	30,776,194 (GRCm39)	missense	probably benign	0.28
R0412:Xxylt1	UTSW	16	30,826,616 (GRCm39)	missense	probably damaging	1.00
R1140:Xxylt1	UTSW	16	30,826,666 (GRCm39)	critical splice acceptor site	probably null
R1871:Xxylt1	UTSW	16	30,776,235 (GRCm39)	missense	probably damaging	1.00
R2006:Xxylt1	UTSW	16	30,869,586 (GRCm39)	missense	probably damaging	1.00
R5808:Xxylt1	UTSW	16	30,869,503 (GRCm39)	missense	probably damaging	1.00
R6089:Xxylt1	UTSW	16	30,899,799 (GRCm39)	missense	probably damaging	0.98
R6208:Xxylt1	UTSW	16	30,826,626 (GRCm39)	missense	probably benign	0.01
R8339:Xxylt1	UTSW	16	30,899,858 (GRCm39)	missense	possibly damaging	0.95
R8738:Xxylt1	UTSW	16	30,899,964 (GRCm39)	missense	probably benign	0.36
R9101:Xxylt1	UTSW	16	30,899,745 (GRCm39)	missense	possibly damaging	0.77
R9418:Xxylt1	UTSW	16	30,826,624 (GRCm39)	nonsense	probably null
R9525:Xxylt1	UTSW	16	30,869,593 (GRCm39)	missense	probably benign	0.03
RF007:Xxylt1	UTSW	16	30,869,498 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AAACATGCTTCCACGGAGC -3'
(R):5'- TACTCCGTTAGGTGCCAAGC -3'

Sequencing Primer
(F):5'- ACGATGCGGTTAGATCCAC -3'
(R):5'- TTAGGTGCCAAGCTTCCCG -3'

Posted On

2020-10-20