Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00815:Txlnb'

14667

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Txlnb

Ensembl Gene

ENSMUSG00000039891

Gene Name

taxilin beta

Synonyms

Mdp77, 2310001N14Rik

Accession Numbers

Essential gene?

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

Stock #

IGL00815

Quality Score

Status

Chromosome

Chromosomal Location

17671974-17721413 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 17718711 bp (GRCm39)

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]

AlphaFold

Q8VBT1

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: 120,981,699 (GRCm39)		probably benign	Het
Arhgap20	A	G	9: 51,760,713 (GRCm39)	N819D	probably benign	Het
Cenpe	A	G	3: 134,965,112 (GRCm39)	I2061V	probably benign	Het
Chrna4	T	C	2: 180,671,184 (GRCm39)	I191V	probably benign	Het
Crim1	A	G	17: 78,677,520 (GRCm39)	E907G	probably damaging	Het
Cyp2d9	T	A	15: 82,340,576 (GRCm39)	D175E	possibly damaging	Het
Eml4	A	G	17: 83,758,219 (GRCm39)		probably benign	Het
Faim	G	A	9: 98,874,218 (GRCm39)	G15R	probably damaging	Het
Fam3c	A	T	6: 22,318,947 (GRCm39)	D151E	probably damaging	Het
Far1	G	A	7: 113,139,896 (GRCm39)	V115I	probably benign	Het
Gfap	T	C	11: 102,779,516 (GRCm39)	D427G	possibly damaging	Het
Hdac5	A	G	11: 102,088,168 (GRCm39)	F934S	probably damaging	Het
Hyou1	A	G	9: 44,296,443 (GRCm39)	E456G	probably benign	Het
Kl	G	A	5: 150,904,315 (GRCm39)	E356K	possibly damaging	Het
Morc1	T	C	16: 48,281,055 (GRCm39)	I198T	possibly damaging	Het
Mroh9	C	T	1: 162,866,700 (GRCm39)	V679M	probably damaging	Het
Pigr	T	A	1: 130,762,167 (GRCm39)	M1K	probably null	Het
Pkn3	C	A	2: 29,971,212 (GRCm39)	P260T	possibly damaging	Het
Pld5	T	G	1: 175,967,585 (GRCm39)	D28A	probably damaging	Het
Plekhg2	G	A	7: 28,060,294 (GRCm39)	Q1012*	probably null	Het
Ppp1ca	A	G	19: 4,243,143 (GRCm39)	I104V	probably benign	Het
Rad21l	A	G	2: 151,509,909 (GRCm39)	V64A	probably damaging	Het
Rbm20	A	G	19: 53,803,948 (GRCm39)	D427G	probably damaging	Het
Rev3l	A	G	10: 39,735,149 (GRCm39)	I2792V	possibly damaging	Het
Sec23a	C	T	12: 59,039,068 (GRCm39)	C248Y	possibly damaging	Het
Sf3b1	A	T	1: 55,036,090 (GRCm39)		probably benign	Het
Slc30a1	A	G	1: 191,641,191 (GRCm39)	N279S	probably damaging	Het
Slit2	G	A	5: 48,146,493 (GRCm39)	E95K	possibly damaging	Het
Spic	T	C	10: 88,511,729 (GRCm39)	N176D	probably damaging	Het
Tlk2	C	T	11: 105,137,621 (GRCm39)	Q184*	probably null	Het
Tpm4	T	C	8: 72,897,347 (GRCm39)	I107T	probably benign	Het
Ttll11	A	T	2: 35,792,732 (GRCm39)	C186*	probably null	Het
Zfpm2	T	A	15: 40,962,887 (GRCm39)	M183K	probably benign	Het

Other mutations in Txlnb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4483:Txlnb	UTSW	10	17,714,745 (GRCm39)	nonsense	probably null
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

Posted On

2012-12-06