Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00815:Txlnb'

14667

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Txlnb

Ensembl Gene

ENSMUSG00000039891

Gene Name

taxilin beta

Synonyms

2310001N14Rik, Mdp77

Accession Numbers

Is this an essential gene?

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

Stock #

IGL00815

Quality Score

Status

Chromosome

Chromosomal Location

17796226-17845665 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 17842963 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 514 (H514L)

Ref Sequence

ENSEMBL: ENSMUSP00000044936 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000037964
AA Change: H514L

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

SMART Domains

Protein: ENSMUSP00000044936
Gene: ENSMUSG00000039891
AA Change: H514L

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adal	A	G	2: 121,151,218		probably benign	Het
Arhgap20	A	G	9: 51,849,413	N819D	probably benign	Het
Cenpe	A	G	3: 135,259,351	I2061V	probably benign	Het
Chrna4	T	C	2: 181,029,391	I191V	probably benign	Het
Crim1	A	G	17: 78,370,091	E907G	probably damaging	Het
Cyp2d9	T	A	15: 82,456,375	D175E	possibly damaging	Het
Eml4	A	G	17: 83,450,790		probably benign	Het
Faim	G	A	9: 98,992,165	G15R	probably damaging	Het
Fam3c	A	T	6: 22,318,948	D151E	probably damaging	Het
Far1	G	A	7: 113,540,689	V115I	probably benign	Het
Gfap	T	C	11: 102,888,690	D427G	possibly damaging	Het
Hdac5	A	G	11: 102,197,342	F934S	probably damaging	Het
Hyou1	A	G	9: 44,385,146	E456G	probably benign	Het
Kl	G	A	5: 150,980,850	E356K	possibly damaging	Het
Morc1	T	C	16: 48,460,692	I198T	possibly damaging	Het
Mroh9	C	T	1: 163,039,131	V679M	probably damaging	Het
Pigr	T	A	1: 130,834,430	M1K	probably null	Het
Pkn3	C	A	2: 30,081,200	P260T	possibly damaging	Het
Pld5	T	G	1: 176,140,019	D28A	probably damaging	Het
Plekhg2	G	A	7: 28,360,869	Q1012*	probably null	Het
Ppp1ca	A	G	19: 4,193,144	I104V	probably benign	Het
Rad21l	A	G	2: 151,667,989	V64A	probably damaging	Het
Rbm20	A	G	19: 53,815,517	D427G	probably damaging	Het
Rev3l	A	G	10: 39,859,153	I2792V	possibly damaging	Het
Sec23a	C	T	12: 58,992,282	C248Y	possibly damaging	Het
Sf3b1	A	T	1: 54,996,931		probably benign	Het
Slc30a1	A	G	1: 191,909,079	N279S	probably damaging	Het
Slit2	G	A	5: 47,989,151	E95K	possibly damaging	Het
Spic	T	C	10: 88,675,867	N176D	probably damaging	Het
Tlk2	C	T	11: 105,246,795	Q184*	probably null	Het
Tpm4	T	C	8: 72,143,503	I107T	probably benign	Het
Ttll11	A	T	2: 35,902,720	C186*	probably null	Het
Zfpm2	T	A	15: 41,099,491	M183K	probably benign	Het

Other mutations in Txlnb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-06