Mutagenetix > Incidental Mutation

Incidental Mutation 'R5181:Xylb'

397556

Institutional Source

Beutler Lab

Gene Symbol

Xylb

Ensembl Gene

ENSMUSG00000035769

Gene Name

xylulokinase homolog (H. influenzae)

Synonyms

MMRRC Submission

042761-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R5181 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119186447-119222863 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119193567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 87 (L87Q)

Ref Sequence

ENSEMBL: ENSMUSP00000047254 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039610] [ENSMUST00000170400] [ENSMUST00000215822] [ENSMUST00000216838]

AlphaFold

Q3TNA1

Predicted Effect

probably damaging
Transcript: ENSMUST00000039610
AA Change: L87Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047254
Gene: ENSMUSG00000035769
AA Change: L87Q

Domain	Start	End	E-Value	Type
low complexity region	123	142	N/A	INTRINSIC
Pfam:FGGY_N	144	302	3.9e-15	PFAM
Pfam:FGGY_C	310	496	2.1e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170400

SMART Domains

Protein: ENSMUSP00000131982
Gene: ENSMUSG00000070280

Domain	Start	End	E-Value	Type
transmembrane domain	68	90	N/A	INTRINSIC
Pfam:Sugar_tr	150	555	1.2e-28	PFAM
Pfam:MFS_1	178	514	7.6e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215305

Predicted Effect

unknown
Transcript: ENSMUST00000215822
AA Change: W64R

Predicted Effect

unknown
Transcript: ENSMUST00000216838
AA Change: W64R

Meta Mutation Damage Score

0.7687

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (54/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares 22% sequence identity with Hemophilus influenzae xylulokinase, and even higher identity to other gene products in C.elegans (45%) and yeast (31-35%), which are thought to belong to a family of enzymes that include fucokinase, gluconokinase, glycerokinase and xylulokinase. These proteins play important roles in energy metabolism. [provided by RefSeq, Aug 2009]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	A	5: 8,764,937 (GRCm39)	D642E	probably benign	Het
Anxa2	T	C	9: 69,383,347 (GRCm39)	V54A	probably benign	Het
Ccnb1	C	G	13: 100,918,283 (GRCm39)	Q121H	possibly damaging	Het
Cdca2	A	G	14: 67,917,614 (GRCm39)	S595P	probably damaging	Het
Cenpe	G	A	3: 134,948,064 (GRCm39)	E1208K	probably damaging	Het
Cfh	T	C	1: 140,075,384 (GRCm39)		probably benign	Het
Colq	T	A	14: 31,279,799 (GRCm39)	H9L	probably benign	Het
Coq8b	T	C	7: 26,951,747 (GRCm39)	I403T	possibly damaging	Het
Cyrib	T	A	15: 63,810,526 (GRCm39)	M234L	probably damaging	Het
Dcdc2a	C	A	13: 25,386,347 (GRCm39)	T407K	possibly damaging	Het
Dennd2b	T	C	7: 109,155,997 (GRCm39)	Y251C	probably benign	Het
Gask1b	A	T	3: 79,793,618 (GRCm39)	S29C	probably benign	Het
Grhl3	T	A	4: 135,286,415 (GRCm39)	K89*	probably null	Het
Inpp5f	A	G	7: 128,281,555 (GRCm39)	T519A	probably damaging	Het
Isl2	G	T	9: 55,449,561 (GRCm39)	R79L	probably benign	Het
Kif9	T	A	9: 110,350,336 (GRCm39)	D742E	probably damaging	Het
Lgi2	T	A	5: 52,711,792 (GRCm39)	K176M	probably damaging	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Lrch4	A	G	5: 137,627,665 (GRCm39)	D66G	probably damaging	Het
Milr1	G	A	11: 106,645,806 (GRCm39)	G116D	probably damaging	Het
Myof	T	C	19: 37,921,071 (GRCm39)	D1397G	possibly damaging	Het
Neurod2	T	C	11: 98,218,204 (GRCm39)	H320R	probably benign	Het
Nox3	A	T	17: 3,685,561 (GRCm39)	Y562*	probably null	Het
Nrap	G	A	19: 56,333,960 (GRCm39)	H884Y	possibly damaging	Het
Odad4	G	A	11: 100,440,719 (GRCm39)	D67N	probably damaging	Het
Pde3a	T	C	6: 141,426,981 (GRCm39)		probably null	Het
Pgm2l1	G	A	7: 99,910,965 (GRCm39)	C303Y	probably benign	Het
Phip	A	G	9: 82,753,243 (GRCm39)		probably benign	Het
Plxna4	A	G	6: 32,493,932 (GRCm39)	I228T	probably damaging	Het
Prdm2	A	G	4: 142,861,536 (GRCm39)	S585P	probably benign	Het
Prpf6	T	C	2: 181,291,339 (GRCm39)	I718T	probably damaging	Het
Rpp40	T	C	13: 36,080,695 (GRCm39)		probably null	Het
Skic2	T	C	17: 35,063,802 (GRCm39)	D547G	probably benign	Het
Slc22a22	T	A	15: 57,118,519 (GRCm39)	Y264F	probably benign	Het
Slc5a4b	A	T	10: 75,896,221 (GRCm39)	L578*	probably null	Het
Sptan1	A	T	2: 29,883,736 (GRCm39)		probably benign	Het
Sult2a4	T	G	7: 13,722,316 (GRCm39)	I50L	probably benign	Het
Taar6	T	C	10: 23,860,683 (GRCm39)	T288A	possibly damaging	Het
Tmem71	C	T	15: 66,427,063 (GRCm39)	S44N	probably benign	Het
Tmem98	T	C	11: 80,710,758 (GRCm39)	V139A	probably damaging	Het
Triobp	T	C	15: 78,851,954 (GRCm39)	Y703H	probably benign	Het
Ttc34	A	G	4: 154,946,703 (GRCm39)	T868A	probably benign	Het
Ttn	C	T	2: 76,665,225 (GRCm39)		probably benign	Het
Vipas39	A	T	12: 87,286,601 (GRCm39)	W470R	probably damaging	Het
Vmn2r102	T	C	17: 19,897,003 (GRCm39)	Y117H	probably benign	Het
Vmn2r111	T	C	17: 22,790,001 (GRCm39)	N335S	possibly damaging	Het
Vmn2r70	A	G	7: 85,208,387 (GRCm39)	Y697H	probably damaging	Het
Wnk4	C	A	11: 101,156,203 (GRCm39)	R461S	probably damaging	Het
Zcchc9	T	A	13: 91,945,281 (GRCm39)	K101*	probably null	Het
Zfp503	C	A	14: 22,035,705 (GRCm39)	A404S	probably benign	Het
Zhx1	C	G	15: 57,917,470 (GRCm39)	G259R	probably damaging	Het

Other mutations in Xylb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00592:Xylb	APN	9	119,219,549 (GRCm39)	nonsense	probably null
R0330:Xylb	UTSW	9	119,210,653 (GRCm39)	missense	probably damaging	0.98
R0959:Xylb	UTSW	9	119,209,091 (GRCm39)	missense	possibly damaging	0.85
R1127:Xylb	UTSW	9	119,212,443 (GRCm39)	missense	probably damaging	0.99
R1401:Xylb	UTSW	9	119,197,133 (GRCm39)	splice site	probably benign
R1417:Xylb	UTSW	9	119,193,606 (GRCm39)	missense	probably benign	0.04
R2315:Xylb	UTSW	9	119,188,335 (GRCm39)	missense	probably benign	0.22
R2322:Xylb	UTSW	9	119,217,813 (GRCm39)	missense	possibly damaging	0.95
R3884:Xylb	UTSW	9	119,209,753 (GRCm39)	missense	probably damaging	1.00
R4367:Xylb	UTSW	9	119,217,781 (GRCm39)	missense	probably benign	0.10
R4463:Xylb	UTSW	9	119,215,433 (GRCm39)	missense	probably benign	0.00
R4750:Xylb	UTSW	9	119,188,379 (GRCm39)	nonsense	probably null
R5568:Xylb	UTSW	9	119,190,198 (GRCm39)	missense	probably benign	0.43
R6104:Xylb	UTSW	9	119,193,573 (GRCm39)	makesense	probably null
R6171:Xylb	UTSW	9	119,210,657 (GRCm39)	missense	probably damaging	1.00
R6642:Xylb	UTSW	9	119,196,559 (GRCm39)	missense	probably damaging	1.00
R6643:Xylb	UTSW	9	119,196,559 (GRCm39)	missense	probably damaging	1.00
R6836:Xylb	UTSW	9	119,220,820 (GRCm39)	missense	probably damaging	1.00
R7121:Xylb	UTSW	9	119,211,358 (GRCm39)	missense	probably benign	0.00
R7496:Xylb	UTSW	9	119,220,882 (GRCm39)	makesense	probably null
R7776:Xylb	UTSW	9	119,209,766 (GRCm39)	critical splice donor site	probably null
R7908:Xylb	UTSW	9	119,210,611 (GRCm39)	missense	probably benign	0.00
R8025:Xylb	UTSW	9	119,210,569 (GRCm39)	missense	probably damaging	0.99
R9420:Xylb	UTSW	9	119,215,428 (GRCm39)	missense	probably damaging	1.00
R9616:Xylb	UTSW	9	119,201,022 (GRCm39)	missense	probably damaging	1.00
Z1088:Xylb	UTSW	9	119,210,680 (GRCm39)	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- TGATGCCTGCTTGCTTAATCAG -3'
(R):5'- TGTCGCTACCAAAGAAATGTGTAC -3'

Sequencing Primer
(F):5'- GCTTAATCAGCTATCCCTGCACAG -3'
(R):5'- GTGTACTTAAGTTCAAGGCCCAC -3'

Posted On

2016-07-06