Mutagenetix > Incidental Mutation

Incidental Mutation 'R1641:Txlnb'

173541

Institutional Source

Beutler Lab

Gene Symbol

Txlnb

Ensembl Gene

ENSMUSG00000039891

Gene Name

taxilin beta

Synonyms

2310001N14Rik, Mdp77

MMRRC Submission

039677-MU

Accession Numbers

Essential gene?

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

Stock #

R1641 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

17796226-17845665 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 17806773 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 148 (A148T)

Ref Sequence

ENSEMBL: ENSMUSP00000044936 (fasta)

Gene Model

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

AlphaFold

Q8VBT1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037964
AA Change: A148T

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000044936
Gene: ENSMUSG00000039891
AA Change: A148T

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

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	G	15: 8,228,959	T2230A	probably benign	Het
Aasdh	T	A	5: 76,891,779	T228S	probably benign	Het
Adamts2	C	T	11: 50,792,785	P965S	probably damaging	Het
Ankrd11	A	G	8: 122,891,746	I1768T	probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Baz2b	A	T	2: 59,912,890	L1579Q	probably damaging	Het
Btbd7	A	G	12: 102,790,775	V684A	probably damaging	Het
Camk1g	T	A	1: 193,356,357	I86F	probably benign	Het
Capn13	A	T	17: 73,382,894	S41T	possibly damaging	Het
Cep192	C	A	18: 67,847,433	L1422I	probably damaging	Het
Chaf1a	T	C	17: 56,047,380	F217L	unknown	Het
Clca3b	A	T	3: 144,823,513	M800K	possibly damaging	Het
Crocc	A	G	4: 141,017,077	V1836A	probably benign	Het
Csmd2	G	A	4: 128,483,395	V2023M	possibly damaging	Het
Cul9	A	G	17: 46,543,560	V72A	possibly damaging	Het
Ddx52	T	C	11: 83,943,443		probably null	Het
Dennd5b	A	C	6: 149,068,205	V250G	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Gtpbp4	A	T	13: 8,973,249	M593K	probably benign	Het
Il21	A	G	3: 37,232,532	F12L	probably benign	Het
Lrit2	T	A	14: 37,069,148	N261K	probably benign	Het
Lrrc39	G	T	3: 116,570,913	C151F	probably damaging	Het
Lsm14a	C	A	7: 34,351,374	R426L	probably damaging	Het
Maml1	G	A	11: 50,266,947	P134S	probably benign	Het
Map3k13	T	C	16: 21,903,792	C235R	probably damaging	Het
Naip2	C	T	13: 100,161,981	A516T	possibly damaging	Het
Nsmaf	T	C	4: 6,409,884	E663G	probably benign	Het
Ntrk3	T	C	7: 78,356,074	N513S	probably damaging	Het
Nufip1	T	G	14: 76,126,252	N305K	possibly damaging	Het
Olfr121	C	T	17: 37,752,025	T57I	possibly damaging	Het
Olfr1257	A	T	2: 89,881,401	T192S	probably benign	Het
Olfr575	T	A	7: 102,954,968	D218V	probably benign	Het
Olfr694	T	A	7: 106,689,711	T7S	probably benign	Het
Olfr823	A	T	10: 130,112,003	Y262*	probably null	Het
Pi4ka	A	G	16: 17,377,030	V168A	probably benign	Het
Prex2	T	C	1: 11,231,772	V1433A	probably damaging	Het
Prl7a1	A	T	13: 27,633,629	D217E	probably damaging	Het
Prr3	G	A	17: 35,974,592	R86*	probably null	Het
Ptprz1	T	C	6: 23,049,606	F1350L	probably damaging	Het
R3hcc1l	T	C	19: 42,563,607	S348P	possibly damaging	Het
Rag2	A	T	2: 101,629,615	Q90L	probably benign	Het
Scel	T	C	14: 103,533,316	L62P	probably damaging	Het
Serpini1	A	T	3: 75,614,670	E156V	possibly damaging	Het
Skint4	T	A	4: 112,136,043	I321K	possibly damaging	Het
Slc28a2	A	G	2: 122,455,617	D478G	probably damaging	Het
Sppl2b	G	T	10: 80,865,131	V164F	probably damaging	Het
Traf5	T	A	1: 191,997,509	N527I	probably benign	Het
Ttc3	T	A	16: 94,443,317	D17E	probably benign	Het
Ubtf	A	G	11: 102,310,931	Y256H	probably damaging	Het
Usp25	T	C	16: 77,071,671	F320S	possibly damaging	Het
Utp14b	T	C	1: 78,665,939	V518A	probably benign	Het
Utp20	A	G	10: 88,757,972	V2192A	possibly damaging	Het
Vmn1r173	T	A	7: 23,703,108	M256K	probably benign	Het
Vmn2r114	T	A	17: 23,296,988	M510L	probably benign	Het
Xdh	T	A	17: 73,926,552	Q189L	probably benign	Het
Zfat	C	T	15: 68,180,110	A605T	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
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
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'- ACAAAGAGGGAACTTGCTGAGGCTC -3'
(R):5'- TGCGAACTGTGGGGTGGCATAAAC -3'

Sequencing Primer
(F):5'- CTTGCTGAGGCTCAGGAAG -3'
(R):5'- GGTGGCATAAACTCCACTTTG -3'

Posted On

2014-04-24