Mutagenetix > Incidental Mutations

Incidental Mutation 'R2031:Txlnb'

221251

Institutional Source

Beutler Lab

Gene Symbol

Txlnb

Ensembl Gene

ENSMUSG00000039891

Gene Name

taxilin beta

Synonyms

2310001N14Rik, Mdp77

MMRRC Submission

040038-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R2031 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17796226-17845665 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17830314 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 324 (M324V)

Ref Sequence

ENSEMBL: ENSMUSP00000044936 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037964
AA Change: M324V

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000044936
Gene: ENSMUSG00000039891
AA Change: M324V

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

Meta Mutation Damage Score

0.1605

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	G	T	5: 121,501,055	N642K	possibly damaging	Het
Akap11	T	A	14: 78,510,037	I1637L	possibly damaging	Het
Arhgap28	G	T	17: 67,896,116	T114N	probably damaging	Het
Arid5b	A	G	10: 68,278,688		probably null	Het
Atp10a	T	A	7: 58,827,930	C1292*	probably null	Het
Casp4	A	G	9: 5,321,401	S51G	probably benign	Het
Cast	T	C	13: 74,798,652		probably null	Het
Ccdc87	T	C	19: 4,841,687	F736L	probably damaging	Het
Cdon	T	C	9: 35,504,074	S1203P	probably damaging	Het
Cep290	G	A	10: 100,512,400		probably null	Het
Cep85	A	G	4: 134,132,450	V634A	probably benign	Het
Cpeb3	C	T	19: 37,044,679	R589H	probably damaging	Het
Crebrf	T	G	17: 26,742,921	S331A	probably damaging	Het
Cul5	A	G	9: 53,667,180	V36A	probably benign	Het
Dock2	T	A	11: 34,727,470		probably benign	Het
Doxl2	T	C	6: 48,975,855	V238A	probably damaging	Het
Dstyk	G	A	1: 132,453,191	A475T	probably damaging	Het
Enpp6	C	A	8: 47,053,614	P151Q	probably damaging	Het
Fan1	A	G	7: 64,354,424	Y765H	probably damaging	Het
Hsfy2	A	T	1: 56,636,317	S354T	probably benign	Het
Ifi204	A	C	1: 173,752,777	F389C	probably damaging	Het
Ikbip	T	C	10: 91,096,612	Y373H	probably benign	Het
Kbtbd11	C	A	8: 15,028,021	P207T	possibly damaging	Het
Krt73	A	C	15: 101,798,764		probably benign	Het
Mfsd6	T	A	1: 52,708,854	Q284L	probably benign	Het
Mmp1b	T	A	9: 7,368,607	D415V	possibly damaging	Het
Mrc1	A	T	2: 14,321,773	T1161S	probably damaging	Het
Ms4a18	A	G	19: 11,013,650	S27P	probably benign	Het
Muc6	G	A	7: 141,638,400	S2120F	possibly damaging	Het
Mycbp2	G	T	14: 103,188,592	R2366S	probably damaging	Het
Nfkbia	A	G	12: 55,491,152	L172P	probably damaging	Het
Nrros	C	T	16: 32,144,157	W311*	probably null	Het
Olfr1212	A	G	2: 88,959,299	T278A	probably benign	Het
Olfr1436	A	T	19: 12,298,376	V252D	probably damaging	Het
Olfr1466	T	C	19: 13,342,406	L216S	probably benign	Het
Olfr412	A	G	11: 74,364,951	Y94C	probably damaging	Het
Olfr585	A	G	7: 103,098,164	Y141C	probably damaging	Het
Olfr697	A	G	7: 106,741,898	F12S	probably damaging	Het
Parvb	A	T	15: 84,282,835	Y117F	probably benign	Het
Plch2	A	G	4: 155,043,027		probably benign	Het
Plxnb2	A	T	15: 89,162,810	C769*	probably null	Het
Plxnc1	G	T	10: 94,943,667	D304E	probably benign	Het
Prkg2	T	C	5: 99,024,451	D135G	possibly damaging	Het
Ptprb	A	G	10: 116,317,543	D635G	probably benign	Het
Rapgef6	T	G	11: 54,552,858	V89G	probably benign	Het
Ror2	T	A	13: 53,117,330	T330S	probably benign	Het
Ros1	A	G	10: 52,067,068	V2050A	possibly damaging	Het
Serpinb6e	T	C	13: 33,837,750		probably benign	Het
Skp2	C	A	15: 9,113,698	G376C	probably damaging	Het
Smarca4	T	C	9: 21,686,062	V1371A	possibly damaging	Het
Syvn1	G	A	19: 6,050,530	R317H	probably damaging	Het
Tdo2	T	A	3: 81,969,505	D139V	probably damaging	Het
Tmem130	A	G	5: 144,752,426	V135A	possibly damaging	Het
Tpr	A	T	1: 150,442,119	Q2126L	probably benign	Het
Ubxn10	A	G	4: 138,721,263	M34T	possibly damaging	Het
Vmn2r95	T	C	17: 18,439,455	W154R	possibly 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
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
R5291:Txlnb	UTSW	10	17799396	missense	possibly damaging	0.92
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
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'- GGACTCTCATCGATTTATGGCCTTC -3'
(R):5'- ACTTCTCCGTAGATGCGAGG -3'

Sequencing Primer
(F):5'- CAGTGAGGCCAGAGTGTCTATTCC -3'
(R):5'- CGAGGGCTTTTAGATGAGTCAAG -3'

Posted On

2014-08-25