Mutagenetix > Incidental Mutation

Incidental Mutation 'R5291:Txlnb'

405157

Institutional Source

Beutler Lab

Gene Symbol

Txlnb

Ensembl Gene

ENSMUSG00000039891

Gene Name

taxilin beta

Synonyms

2310001N14Rik, Mdp77

MMRRC Submission

042874-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R5291 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

17796226-17845665 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 17799396 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 99 (D99V)

Ref Sequence

ENSEMBL: ENSMUSP00000044936 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037964]

AlphaFold

Q8VBT1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037964
AA Change: D99V

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000044936
Gene: ENSMUSG00000039891
AA Change: D99V

Domain	Start	End	E-Value	Type
internal_repeat_2	5	22	2.13e-6	PROSPERO
internal_repeat_1	25	93	4.27e-8	PROSPERO
low complexity region	115	128	N/A	INTRINSIC
Pfam:Taxilin	145	454	3.1e-122	PFAM
low complexity region	477	491	N/A	INTRINSIC
internal_repeat_2	543	560	2.13e-6	PROSPERO
low complexity region	575	591	N/A	INTRINSIC
internal_repeat_1	600	659	4.27e-8	PROSPERO

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175676

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176132

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181428

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,585,937	S328G	probably damaging	Het
Acot5	T	G	12: 84,073,519	L216R	probably benign	Het
Ankrd6	A	G	4: 32,823,446	L192P	probably damaging	Het
Atp6v1e1	C	A	6: 120,818,333		probably null	Het
Bbs9	T	C	9: 22,628,997	Y358H	probably damaging	Het
Bend7	G	A	2: 4,763,241	R336Q	probably damaging	Het
Camk2a	A	G	18: 60,957,164	K192R	probably damaging	Het
Ceacam1	T	A	7: 25,471,831	R223W	probably damaging	Het
Cntn6	T	A	6: 104,726,135	F173I	probably damaging	Het
Cntrl	A	C	2: 35,134,060	I33L	probably damaging	Het
Crybg2	T	C	4: 134,073,427	S633P	probably benign	Het
Cyp2j13	T	C	4: 96,068,329	H181R	probably damaging	Het
Dlgap1	A	G	17: 70,718,210	S542G	probably benign	Het
Dnm2	T	G	9: 21,478,907	L402R	probably damaging	Het
Fndc3b	C	A	3: 27,642,995	V23L	probably benign	Het
Gata4	A	C	14: 63,240,599	F184V	probably damaging	Het
Gcnt2	A	G	13: 40,918,792	R304G	probably damaging	Het
Gm10563	TTTC	TTTCCTTC	4: 155,614,512		probably benign	Het
Gm26558	G	A	2: 70,661,529		probably benign	Het
Grip1	G	A	10: 120,086,969	V1107I	probably benign	Het
Herpud2	C	T	9: 25,124,960	G135S	probably benign	Het
Lrp1	A	G	10: 127,593,878	I441T	probably damaging	Het
Lrp1b	T	C	2: 40,903,003	D2553G	probably damaging	Het
Mkln1	T	A	6: 31,490,481	N43K	possibly damaging	Het
Olfr1259	A	T	2: 89,943,436	Y226*	probably null	Het
Olfr181	T	C	16: 58,926,401	T57A	possibly damaging	Het
Paxbp1	C	T	16: 91,044,352	M1I	probably null	Het
Phip	A	G	9: 82,945,883	Y97H	probably damaging	Het
Plec	T	A	15: 76,174,011	I3774F	probably damaging	Het
Pramef6	G	T	4: 143,895,667	P373T	probably damaging	Het
Prrc2c	C	A	1: 162,705,582		probably benign	Het
Prss12	T	C	3: 123,505,463	L628P	probably damaging	Het
Ptpre	G	A	7: 135,678,301	V578I	probably benign	Het
Qsox2	A	T	2: 26,217,698	L261H	probably damaging	Het
Rapgef2	A	T	3: 79,070,059	V1327E	possibly damaging	Het
Rnf216	A	G	5: 143,090,212	S306P	probably benign	Het
Rtel1	A	G	2: 181,352,095	Q640R	possibly damaging	Het
Ryr1	T	A	7: 29,115,598	D175V	probably benign	Het
Scarf1	T	C	11: 75,524,074	S525P	probably damaging	Het
Senp7	T	A	16: 56,186,179	Y982*	probably null	Het
Slc35b2	T	C	17: 45,566,498	Y184H	probably damaging	Het
Sned1	A	G	1: 93,295,724	K1375E	possibly damaging	Het
Spats2	G	T	15: 99,178,541	A167S	probably benign	Het
Spen	C	A	4: 141,488,079	A481S	unknown	Het
Spred3	T	A	7: 29,167,830	H47L	probably damaging	Het
Srsf4	T	A	4: 131,886,306		probably benign	Het
Tdrd3	A	T	14: 87,505,798	H394L	probably benign	Het
Terf1	A	G	1: 15,819,086		probably null	Het
Ugt1a7c	A	T	1: 88,095,509	N130I	possibly damaging	Het
Vmn2r50	T	A	7: 10,047,825	D331V	probably damaging	Het
Vps13d	A	G	4: 145,062,569	I744T	probably damaging	Het
Ythdc1	A	G	5: 86,835,688	D664G	probably damaging	Het

Other mutations in Txlnb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00815:Txlnb	APN	10	17842963	missense	probably damaging	0.98
IGL01820:Txlnb	APN	10	17806858	critical splice donor site	probably null
IGL02244:Txlnb	APN	10	17843368	missense	probably benign	0.00
IGL02247:Txlnb	APN	10	17830342	missense	possibly damaging	0.55
IGL02247:Txlnb	APN	10	17841528	splice site	probably benign
IGL02931:Txlnb	APN	10	17827982	missense	probably damaging	1.00
IGL03006:Txlnb	APN	10	17838975	missense	probably damaging	0.96
IGL02991:Txlnb	UTSW	10	17841453	missense	probably damaging	1.00
R0092:Txlnb	UTSW	10	17842755	missense	possibly damaging	0.91
R0800:Txlnb	UTSW	10	17799492	missense	possibly damaging	0.50
R0908:Txlnb	UTSW	10	17799177	missense	probably damaging	1.00
R1172:Txlnb	UTSW	10	17842756	missense	probably benign	0.23
R1174:Txlnb	UTSW	10	17842756	missense	probably benign	0.23
R1340:Txlnb	UTSW	10	17842740	missense	probably damaging	1.00
R1373:Txlnb	UTSW	10	17838947	missense	probably damaging	1.00
R1641:Txlnb	UTSW	10	17806773	missense	possibly damaging	0.55
R1680:Txlnb	UTSW	10	17843233	missense	probably benign	0.01
R1710:Txlnb	UTSW	10	17843455	missense	possibly damaging	0.90
R1741:Txlnb	UTSW	10	17838947	missense	probably damaging	1.00
R1955:Txlnb	UTSW	10	17799420	missense	probably damaging	0.98
R2031:Txlnb	UTSW	10	17830314	missense	possibly damaging	0.85
R4300:Txlnb	UTSW	10	17827925	missense	probably damaging	1.00
R4483:Txlnb	UTSW	10	17838997	nonsense	probably null
R4484:Txlnb	UTSW	10	17838997	nonsense	probably null
R4656:Txlnb	UTSW	10	17815276	missense	probably damaging	1.00
R4664:Txlnb	UTSW	10	17843194	missense	probably damaging	0.99
R4723:Txlnb	UTSW	10	17799267	missense	probably benign	0.02
R4974:Txlnb	UTSW	10	17838969	missense	probably damaging	1.00
R5538:Txlnb	UTSW	10	17838909	missense	probably damaging	1.00
R5791:Txlnb	UTSW	10	17799128	missense	probably benign	0.01
R5967:Txlnb	UTSW	10	17799420	missense	probably damaging	0.98
R6144:Txlnb	UTSW	10	17843166	missense	probably benign	0.17
R6212:Txlnb	UTSW	10	17799309	missense	probably damaging	1.00
R7146:Txlnb	UTSW	10	17827798	missense	possibly damaging	0.81
R7171:Txlnb	UTSW	10	17842984	missense	probably benign	0.22
R7253:Txlnb	UTSW	10	17827885	missense	probably damaging	1.00
R7468:Txlnb	UTSW	10	17799334	missense	probably damaging	0.96
R7608:Txlnb	UTSW	10	17815398	missense	probably damaging	0.98
R7936:Txlnb	UTSW	10	17827964	missense	probably benign	0.26
R8245:Txlnb	UTSW	10	17841457	missense	probably damaging	1.00
R8262:Txlnb	UTSW	10	17843004	missense	possibly damaging	0.90
R8435:Txlnb	UTSW	10	17827796	missense	probably damaging	1.00
R8933:Txlnb	UTSW	10	17806798	missense	probably damaging	0.97
R9218:Txlnb	UTSW	10	17842822	missense	probably damaging	0.99
R9329:Txlnb	UTSW	10	17806846	missense	probably damaging	1.00
X0025:Txlnb	UTSW	10	17799422	missense	probably benign	0.39
Z1177:Txlnb	UTSW	10	17806806	missense	probably benign	0.33
Z1177:Txlnb	UTSW	10	17827804	missense	probably damaging	1.00
Z1177:Txlnb	UTSW	10	17833308	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- GGGACAGCTCATCACTCAATC -3'
(R):5'- TGCATTGTATAAGGAAATGCCGG -3'

Sequencing Primer
(F):5'- GTGCTCAACCTCAGGCCAAG -3'
(R):5'- CCTTGAACAGGGTTGGGGAC -3'

Posted On

2016-07-22