Mutagenetix > Incidental Mutation

Incidental Mutation 'R4483:Txlnb'

386439

Institutional Source

Beutler Lab

Gene Symbol

Txlnb

Ensembl Gene

ENSMUSG00000039891

Gene Name

taxilin beta

Synonyms

Mdp77, 2310001N14Rik

MMRRC Submission

041739-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R4483 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

17671974-17721413 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to TTA at 17714745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000044936 (fasta)

Gene Model

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

AlphaFold

Q8VBT1

Predicted Effect

probably null
Transcript: ENSMUST00000037964

SMART Domains

Protein: ENSMUSP00000044936
Gene: ENSMUSG00000039891

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,567,349 (GRCm39)	G5275S	probably benign	Het
Akap11	A	G	14: 78,747,699 (GRCm39)	S1563P	probably damaging	Het
Ankrd50	A	G	3: 38,511,680 (GRCm39)	V229A	probably damaging	Het
AW112010	A	G	19: 11,027,757 (GRCm39)		noncoding transcript	Het
Ccdc158	A	G	5: 92,781,187 (GRCm39)	S873P	probably benign	Het
Cep350	A	G	1: 155,802,214 (GRCm39)	V1104A	probably benign	Het
Chil4	G	A	3: 106,121,678 (GRCm39)	A57V	probably damaging	Het
Cpa5	A	G	6: 30,624,625 (GRCm39)	E155G	probably damaging	Het
Ctsq	T	C	13: 61,186,726 (GRCm39)	I93V	probably benign	Het
Dbi	A	T	1: 120,048,535 (GRCm39)	I37K	probably benign	Het
Defa35	T	C	8: 21,555,208 (GRCm39)	S43P	probably damaging	Het
Fance	T	A	17: 28,534,781 (GRCm39)		probably benign	Het
Fbxl6	A	G	15: 76,422,129 (GRCm39)	L180P	probably damaging	Het
Fkbpl	T	C	17: 34,865,269 (GRCm39)	F346L	probably damaging	Het
Gm11735	C	A	11: 116,632,101 (GRCm39)		noncoding transcript	Het
Gm28042	T	C	2: 119,866,321 (GRCm39)	I373T	possibly damaging	Het
Golga4	T	C	9: 118,343,254 (GRCm39)	S27P	probably damaging	Het
Gstm1	C	T	3: 107,923,834 (GRCm39)		probably null	Het
Lama3	T	A	18: 12,682,310 (GRCm39)	I1092K	probably benign	Het
Med15	A	T	16: 17,489,428 (GRCm39)		probably benign	Het
Nlrp6	A	G	7: 140,501,694 (GRCm39)	D87G	probably damaging	Het
Parp11	A	G	6: 127,448,568 (GRCm39)	T62A	probably benign	Het
Pcnt	A	G	10: 76,237,317 (GRCm39)	L1323S	probably damaging	Het
Ppp2r1a	C	T	17: 21,176,072 (GRCm39)	T98I	probably benign	Het
Pramel11	T	A	4: 143,622,410 (GRCm39)	Y315F	probably damaging	Het
Prl7a2	T	A	13: 27,844,930 (GRCm39)	H152L	possibly damaging	Het
Rnf145	T	C	11: 44,455,104 (GRCm39)	S662P	probably benign	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Tnfaip3	A	T	10: 18,887,375 (GRCm39)	M50K	probably damaging	Het
Usp9x	A	G	X: 12,987,687 (GRCm39)	D638G	possibly damaging	Het
Vmn1r30	A	T	6: 58,412,118 (GRCm39)	V238E	probably damaging	Het
Zfp507	A	G	7: 35,487,141 (GRCm39)		probably null	Het
Zfp532	G	T	18: 65,789,636 (GRCm39)	W1025L	probably benign	Het

Other mutations in Txlnb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00815:Txlnb	APN	10	17,718,711 (GRCm39)	missense	probably damaging	0.98
IGL01820:Txlnb	APN	10	17,682,606 (GRCm39)	critical splice donor site	probably null
IGL02244:Txlnb	APN	10	17,719,116 (GRCm39)	missense	probably benign	0.00
IGL02247:Txlnb	APN	10	17,717,276 (GRCm39)	splice site	probably benign
IGL02247:Txlnb	APN	10	17,706,090 (GRCm39)	missense	possibly damaging	0.55
IGL02931:Txlnb	APN	10	17,703,730 (GRCm39)	missense	probably damaging	1.00
IGL03006:Txlnb	APN	10	17,714,723 (GRCm39)	missense	probably damaging	0.96
IGL02991:Txlnb	UTSW	10	17,717,201 (GRCm39)	missense	probably damaging	1.00
R0092:Txlnb	UTSW	10	17,718,503 (GRCm39)	missense	possibly damaging	0.91
R0800:Txlnb	UTSW	10	17,675,240 (GRCm39)	missense	possibly damaging	0.50
R0908:Txlnb	UTSW	10	17,674,925 (GRCm39)	missense	probably damaging	1.00
R1172:Txlnb	UTSW	10	17,718,504 (GRCm39)	missense	probably benign	0.23
R1174:Txlnb	UTSW	10	17,718,504 (GRCm39)	missense	probably benign	0.23
R1340:Txlnb	UTSW	10	17,718,488 (GRCm39)	missense	probably damaging	1.00
R1373:Txlnb	UTSW	10	17,714,695 (GRCm39)	missense	probably damaging	1.00
R1641:Txlnb	UTSW	10	17,682,521 (GRCm39)	missense	possibly damaging	0.55
R1680:Txlnb	UTSW	10	17,718,981 (GRCm39)	missense	probably benign	0.01
R1710:Txlnb	UTSW	10	17,719,203 (GRCm39)	missense	possibly damaging	0.90
R1741:Txlnb	UTSW	10	17,714,695 (GRCm39)	missense	probably damaging	1.00
R1955:Txlnb	UTSW	10	17,675,168 (GRCm39)	missense	probably damaging	0.98
R2031:Txlnb	UTSW	10	17,706,062 (GRCm39)	missense	possibly damaging	0.85
R4300:Txlnb	UTSW	10	17,703,673 (GRCm39)	missense	probably damaging	1.00
R4484:Txlnb	UTSW	10	17,714,745 (GRCm39)	nonsense	probably null
R4656:Txlnb	UTSW	10	17,691,024 (GRCm39)	missense	probably damaging	1.00
R4664:Txlnb	UTSW	10	17,718,942 (GRCm39)	missense	probably damaging	0.99
R4723:Txlnb	UTSW	10	17,675,015 (GRCm39)	missense	probably benign	0.02
R4974:Txlnb	UTSW	10	17,714,717 (GRCm39)	missense	probably damaging	1.00
R5291:Txlnb	UTSW	10	17,675,144 (GRCm39)	missense	possibly damaging	0.92
R5538:Txlnb	UTSW	10	17,714,657 (GRCm39)	missense	probably damaging	1.00
R5791:Txlnb	UTSW	10	17,674,876 (GRCm39)	missense	probably benign	0.01
R5967:Txlnb	UTSW	10	17,675,168 (GRCm39)	missense	probably damaging	0.98
R6144:Txlnb	UTSW	10	17,718,914 (GRCm39)	missense	probably benign	0.17
R6212:Txlnb	UTSW	10	17,675,057 (GRCm39)	missense	probably damaging	1.00
R7146:Txlnb	UTSW	10	17,703,546 (GRCm39)	missense	possibly damaging	0.81
R7171:Txlnb	UTSW	10	17,718,732 (GRCm39)	missense	probably benign	0.22
R7253:Txlnb	UTSW	10	17,703,633 (GRCm39)	missense	probably damaging	1.00
R7468:Txlnb	UTSW	10	17,675,082 (GRCm39)	missense	probably damaging	0.96
R7608:Txlnb	UTSW	10	17,691,146 (GRCm39)	missense	probably damaging	0.98
R7936:Txlnb	UTSW	10	17,703,712 (GRCm39)	missense	probably benign	0.26
R8245:Txlnb	UTSW	10	17,717,205 (GRCm39)	missense	probably damaging	1.00
R8262:Txlnb	UTSW	10	17,718,752 (GRCm39)	missense	possibly damaging	0.90
R8435:Txlnb	UTSW	10	17,703,544 (GRCm39)	missense	probably damaging	1.00
R8933:Txlnb	UTSW	10	17,682,546 (GRCm39)	missense	probably damaging	0.97
R9218:Txlnb	UTSW	10	17,718,570 (GRCm39)	missense	probably damaging	0.99
R9329:Txlnb	UTSW	10	17,682,594 (GRCm39)	missense	probably damaging	1.00
X0025:Txlnb	UTSW	10	17,675,170 (GRCm39)	missense	probably benign	0.39
Z1177:Txlnb	UTSW	10	17,709,056 (GRCm39)	missense	possibly damaging	0.80
Z1177:Txlnb	UTSW	10	17,703,552 (GRCm39)	missense	probably damaging	1.00
Z1177:Txlnb	UTSW	10	17,682,554 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- GCTAAACATGTGAGTAATCCTGTAC -3'
(R):5'- GGCCATTGATCAGATCTATTTACTGG -3'

Sequencing Primer
(F):5'- CTCAAATAATGAACAGTGACTTGGG -3'
(R):5'- CTGGAGTATCTTAGCCAGAG -3'

Posted On

2016-06-01