Mutagenetix > Incidental Mutation

Incidental Mutation 'R8262:Txlnb'

639864

Institutional Source

Beutler Lab

Gene Symbol

Txlnb

Ensembl Gene

ENSMUSG00000039891

Gene Name

taxilin beta

Synonyms

2310001N14Rik, Mdp77

MMRRC Submission

067687-MU

Accession Numbers

Essential gene?

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

Stock #

R8262 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17796226-17845665 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 17843004 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 528 (L528M)

Ref Sequence

ENSEMBL: ENSMUSP00000044936 (fasta)

Gene Model

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

AlphaFold

Q8VBT1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037964
AA Change: L528M

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000044936
Gene: ENSMUSG00000039891
AA Change: L528M

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	C	6: 23,107,710	D358G	possibly damaging	Het
Adam26a	A	T	8: 43,569,141	C437*	probably null	Het
Arhgap10	A	T	8: 77,310,839	C587S	probably benign	Het
Bank1	G	A	3: 136,242,960	T285I	probably benign	Het
Bhlha15	C	T	5: 144,191,439	S123L	probably damaging	Het
Cacul1	T	C	19: 60,529,037	*305W	probably null	Het
Cep112	A	C	11: 108,503,151	K365T	probably damaging	Het
Chrm1	T	A	19: 8,679,089	L386Q	probably damaging	Het
Cnbp	C	A	6: 87,845,212	R110L	probably damaging	Het
Cntnap5a	A	T	1: 116,188,410	I541F	possibly damaging	Het
Dscaml1	T	G	9: 45,747,140		probably benign	Het
Enpp3	C	T	10: 24,777,926	S711N	probably damaging	Het
Eps8	G	T	6: 137,482,254	N750K	probably benign	Het
Fan1	G	T	7: 64,373,306	N66K	probably benign	Het
Fbf1	G	A	11: 116,154,019	T323I	probably benign	Het
Flg2	A	T	3: 93,220,210	N2143I	unknown	Het
Fn3k	A	C	11: 121,448,918	T169P	probably benign	Het
Fubp1	T	G	3: 152,220,719	I320R	probably damaging	Het
Gfpt2	A	T	11: 49,823,780	E335D	probably benign	Het
Gm13762	T	G	2: 88,973,208	S228R	probably damaging	Het
Gm17472	T	C	6: 42,981,034	I79T	probably benign	Het
Gpr151	C	A	18: 42,578,372	E414*	probably null	Het
Gpr179	G	A	11: 97,336,157	S1724L	probably benign	Het
Gtf2h3	C	A	5: 124,590,904	Y175*	probably null	Het
Hal	T	A	10: 93,492,507	I215N	probably damaging	Het
Htt	A	G	5: 34,895,960	T2546A	probably benign	Het
Ighv1-11	T	C	12: 114,612,457	Y46C	probably damaging	Het
Lcn4	T	C	2: 26,668,363	D170G	probably benign	Het
Lrch1	T	A	14: 74,818,495	D306V	probably damaging	Het
Mtcl1	A	C	17: 66,343,658	V1604G	probably damaging	Het
Olfr1299	T	G	2: 111,664,242	N5K	possibly damaging	Het
Olfr139	A	G	11: 74,045,100	L58P	probably damaging	Het
Olfr1505	G	A	19: 13,919,862	V281I	probably benign	Het
Olfr1513	T	C	14: 52,349,168	N293D	probably damaging	Het
Ormdl2	A	G	10: 128,818,968	L125P	possibly damaging	Het
Papd4	T	C	13: 93,174,489		probably benign	Het
Pcnx3	C	T	19: 5,665,384	G1946E	probably damaging	Het
Pde3a	T	A	6: 141,487,801	F803Y	possibly damaging	Het
Pnpla7	C	T	2: 24,983,623	R214W	probably damaging	Het
Prtg	T	C	9: 72,906,238	V960A	probably benign	Het
Ptgdr	T	C	14: 44,853,401	E300G	probably benign	Het
Ptpru	G	T	4: 131,794,963	Y710*	probably null	Het
Pxdn	T	A	12: 29,999,196	Y620*	probably null	Het
Pycard	T	C	7: 127,993,625	D10G	possibly damaging	Het
Sh3d21	G	T	4: 126,161,982	Q160K	probably benign	Het
Slc26a7	G	A	4: 14,621,269	P39L	probably benign	Het
Snrnp200	T	A	2: 127,227,008	Y936N	probably damaging	Het
Sox8	T	C	17: 25,567,643	D362G	possibly damaging	Het
Tcp11	T	G	17: 28,067,027	N538T	probably damaging	Het
Tmem132e	A	C	11: 82,434,840	E222A	probably benign	Het
Trpc7	T	C	13: 56,789,789	E618G	probably benign	Het
Tsc2	G	T	17: 24,614,366	Q695K	probably benign	Het
Vmn1r176	A	G	7: 23,835,453	Y92H	probably benign	Het
Vmn2r85	T	A	10: 130,418,869	I649F	probably damaging	Het
Vwa8	T	C	14: 78,933,832		probably null	Het
Wrn	A	T	8: 33,324,246	I390N	probably benign	Het
Zfp493	T	A	13: 67,786,857	C310S	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
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
R7936:Txlnb	UTSW	10	17827964	missense	probably benign	0.26
R8245:Txlnb	UTSW	10	17841457	missense	probably damaging	1.00
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'- AAAGGCTGGAGAACCTGTGTC -3'
(R):5'- GACCCTGACTTTGTAGCTCTGC -3'

Sequencing Primer
(F):5'- AACCTGTGTCGTGCTTTACAAGAG -3'
(R):5'- CTCTGCAGGGGTACAGGAG -3'

Posted On

2020-07-28