Mutagenetix > Incidental Mutation

Incidental Mutation 'R8339:Xxylt1'

644817

Institutional Source

Beutler Lab

Gene Symbol

Xxylt1

Ensembl Gene

ENSMUSG00000047434

Gene Name

xyloside xylosyltransferase 1

Synonyms

AI480653

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8339 (G1)

Quality Score

131.008

Status

Not validated

Chromosome

Chromosomal Location

30774165-30900250 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30899858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 99 (H99R)

Ref Sequence

ENSEMBL: ENSMUSP00000050246 (fasta)

Gene Model

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

AlphaFold

Q3U4G3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055389
AA Change: H99R

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000050246
Gene: ENSMUSG00000047434
AA Change: H99R

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: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,324,831 (GRCm39)	F1549S	probably damaging	Het
Ablim1	T	C	19: 57,032,281 (GRCm39)	E710G	probably benign	Het
Adam34	A	T	8: 44,103,640 (GRCm39)	H668Q	probably benign	Het
Asphd2	A	T	5: 112,539,501 (GRCm39)	Y111N	possibly damaging	Het
Camsap1	A	G	2: 25,872,817 (GRCm39)	I45T	possibly damaging	Het
Ccdc88c	A	T	12: 100,907,399 (GRCm39)	L984*	probably null	Het
Ccr1	T	G	9: 123,763,763 (GRCm39)	N256H	probably damaging	Het
Cep295	A	T	9: 15,236,846 (GRCm39)	D254E		Het
Cfhr4	T	A	1: 139,660,157 (GRCm39)	E656V	probably damaging	Het
Cmya5	G	T	13: 93,228,142 (GRCm39)	Y2315*	probably null	Het
Cspp1	G	T	1: 10,183,892 (GRCm39)	R839I	probably damaging	Het
Dbn1	A	T	13: 55,629,982 (GRCm39)	D153E	probably benign	Het
Dnah7a	G	T	1: 53,724,178 (GRCm39)	L96I	probably benign	Het
G6pc1	A	G	11: 101,267,314 (GRCm39)	T255A	possibly damaging	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,934,702 (GRCm39)		probably benign	Het
Il12a	T	A	3: 68,599,438 (GRCm39)	C33*	probably null	Het
Iqce	T	C	5: 140,660,093 (GRCm39)	E555G	probably damaging	Het
Itpr2	T	C	6: 146,214,396 (GRCm39)	M1484V	probably benign	Het
Klc2	A	G	19: 5,159,562 (GRCm39)	S518P	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or2b7	A	T	13: 21,739,996 (GRCm39)	N65K	probably damaging	Het
Or8b47	T	C	9: 38,435,717 (GRCm39)	S230P	probably damaging	Het
Or9g4b	C	A	2: 85,615,876 (GRCm39)	T7N	probably damaging	Het
Otogl	T	A	10: 107,625,396 (GRCm39)	I1516F	probably damaging	Het
Otogl	G	T	10: 107,625,397 (GRCm39)	S1515R	probably benign	Het
Pacs1	A	T	19: 5,192,651 (GRCm39)	V627E	probably damaging	Het
Ptprb	A	C	10: 116,119,356 (GRCm39)	R163S	probably benign	Het
Ralgps2	G	T	1: 156,649,008 (GRCm39)	P432Q	probably null	Het
Rgl3	T	C	9: 21,898,825 (GRCm39)	T205A	probably benign	Het
Rock2	G	T	12: 17,024,861 (GRCm39)	W1213L	probably damaging	Het
Satb1	T	A	17: 52,089,977 (GRCm39)	H290L	probably damaging	Het
Scn1a	T	C	2: 66,116,373 (GRCm39)	Y422C	probably damaging	Het
Sgcg	T	A	14: 61,469,966 (GRCm39)	M132L	probably benign	Het
Shank1	A	G	7: 43,975,589 (GRCm39)	S478G	unknown	Het
Slc18a1	A	T	8: 69,518,273 (GRCm39)	M247K	possibly damaging	Het
Slc37a4	A	G	9: 44,313,724 (GRCm39)	I417V	probably benign	Het
Slc9b2	A	G	3: 135,030,363 (GRCm39)	M227V	possibly damaging	Het
Tcf20	C	A	15: 82,736,877 (GRCm39)	V1525L	probably benign	Het
Tril	G	A	6: 53,794,918 (GRCm39)	T768I	possibly damaging	Het
Zfp653	T	C	9: 21,969,213 (GRCm39)	E351G	probably damaging	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
R8017:Xxylt1	UTSW	16	30,826,637 (GRCm39)	missense	probably damaging	1.00
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'- GCTCACCTTGCACTTGAAGC -3'
(R):5'- CTTTTAGGTATCCACGCTCGTG -3'

Sequencing Primer
(F):5'- TTGCACTTGAAGCCGGCG -3'
(R):5'- ACGCTCGTGATTGGCTC -3'

Posted On

2020-09-02