Mutagenetix > Incidental Mutations

Incidental Mutation 'R5967:Txlnb'

470670

Institutional Source

Beutler Lab

Gene Symbol

Txlnb

Ensembl Gene

ENSMUSG00000039891

Gene Name

taxilin beta

Synonyms

2310001N14Rik, Mdp77

MMRRC Submission

043248-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R5967 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

17796226-17845665 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17799420 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 107 (E107G)

Ref Sequence

ENSEMBL: ENSMUSP00000044936 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000037964
AA Change: E107G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000044936
Gene: ENSMUSG00000039891
AA Change: E107G

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: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	C	A	17: 23,712,358	G192W	probably damaging	Het
Agl	T	A	3: 116,793,708	D66V	probably benign	Het
Agrn	G	A	4: 156,175,103	P792S	probably damaging	Het
AI464131	G	A	4: 41,497,830	A600V	probably benign	Het
Angptl2	A	G	2: 33,228,706	N164S	probably damaging	Het
Birc6	T	C	17: 74,660,439	F4112L	probably damaging	Het
C8b	A	G	4: 104,793,333	E446G	possibly damaging	Het
Ceacam1	C	T	7: 25,474,742	V163I	probably damaging	Het
Cngb1	T	C	8: 95,251,906	K1068R	probably damaging	Het
Gna11	A	G	10: 81,530,809	Y356H	probably benign	Het
Gnl2	A	G	4: 125,041,030	M160V	probably benign	Het
Gpsm1	A	G	2: 26,340,534		probably null	Het
Gtf2h3	C	T	5: 124,584,297	T121I	probably benign	Het
Kif20a	G	T	18: 34,630,527	R609L	probably benign	Het
Meis2	G	A	2: 115,864,309	T444I	probably benign	Het
Muc3	T	A	5: 137,146,637	I62L	probably benign	Het
Ncor2	C	T	5: 125,068,984	D526N	unknown	Het
Nodal	G	T	10: 61,423,667	E294D	probably damaging	Het
Nup214	T	C	2: 31,979,778	V161A	possibly damaging	Het
Olfr1029	G	A	2: 85,976,191	R316H	probably benign	Het
Olfr172	G	T	16: 58,760,362	D271E	probably damaging	Het
Olfr514	C	T	7: 108,825,714	G95D	probably benign	Het
Pclo	A	T	5: 14,540,655	T990S	unknown	Het
Piwil2	A	T	14: 70,390,564	M752K	probably benign	Het
Ppargc1b	A	G	18: 61,298,766	S1004P	probably damaging	Het
Prkd1	A	T	12: 50,364,550	M805K	probably damaging	Het
Rad23a	T	C	8: 84,838,939	E30G	probably damaging	Het
Ralbp1	A	G	17: 65,864,279	V233A	probably benign	Het
Scin	C	T	12: 40,077,538	E418K	probably benign	Het
Scn7a	T	A	2: 66,675,713	I1611F	probably damaging	Het
Slit2	A	T	5: 47,985,164	H42L	probably damaging	Het
Stard9	T	A	2: 120,706,894	V4259D	probably damaging	Het
Trhde	T	A	10: 114,567,134	Y528F	probably damaging	Het
Zfp715	T	C	7: 43,299,148	T463A	probably benign	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
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
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'- GGGGACAGCTCATCACTCAATC -3'
(R):5'- TGCATTGTATAAGGAAATGCCGG -3'

Sequencing Primer
(F):5'- CAAGAGGGAAGCCTGCATCC -3'
(R):5'- CATCCCAGCCCTTGAACAGG -3'

Posted On

2017-03-31