Mutagenetix > Incidental Mutation

Incidental Mutation 'R0010:Txlna'

32464

Institutional Source

Beutler Lab

Gene Symbol

Txlna

Ensembl Gene

ENSMUSG00000053841

Gene Name

taxilin alpha

Synonyms

2600010N21Rik, Txln, IL14

MMRRC Submission

038305-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

R0010 (G1)

Quality Score

140

Status

Validated (trace)

Chromosome

Chromosomal Location

129626078-129641065 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 129629086 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 487 (D487A)

Ref Sequence

ENSEMBL: ENSMUSP00000081285 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046425] [ENSMUST00000084264] [ENSMUST00000133803]

AlphaFold

Q6PAM1

Predicted Effect

probably benign
Transcript: ENSMUST00000046425
AA Change: D487A

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000042153
Gene: ENSMUSG00000053841
AA Change: D487A

Domain	Start	End	E-Value	Type
low complexity region	91	107	N/A	INTRINSIC
Pfam:Taxilin	169	478	9.1e-120	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000084264
AA Change: D487A

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000081285
Gene: ENSMUSG00000053841
AA Change: D487A

Domain	Start	End	E-Value	Type
low complexity region	91	107	N/A	INTRINSIC
Pfam:Taxilin	166	478	3.9e-122	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133803

SMART Domains

Protein: ENSMUSP00000117368
Gene: ENSMUSG00000053841

Domain	Start	End	E-Value	Type
low complexity region	91	107	N/A	INTRINSIC
Pfam:Taxilin	166	296	2.6e-45	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142577

Meta Mutation Damage Score

0.0689

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.9%

Validation Efficiency

100% (89/89)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf3	T	C	5: 30,205,609		probably benign	Het
Ahrr	G	A	13: 74,283,024		probably benign	Het
Bbs7	T	C	3: 36,607,717		probably null	Het
BC037034	T	C	5: 138,260,293		probably null	Het
Cacna1h	T	C	17: 25,380,844	K1566E	probably damaging	Het
Ccdc73	C	T	2: 104,980,987		probably benign	Het
Cd74	A	T	18: 60,803,896		probably benign	Het
Cd74	A	T	18: 60,809,071	H124L	probably benign	Het
Cdk5rap2	T	C	4: 70,243,459	E270G	probably benign	Het
Ces2a	G	A	8: 104,741,396	D520N	probably benign	Het
Cldnd1	T	A	16: 58,731,259		probably benign	Het
Cox17	T	A	16: 38,347,170	C24S	possibly damaging	Het
Cyp2b9	T	A	7: 26,186,753		probably benign	Het
Dennd4a	T	C	9: 64,896,715	L1112P	probably benign	Het
Dennd4c	T	C	4: 86,781,577	S222P	probably damaging	Het
Dhx37	T	A	5: 125,431,616	Q85L	probably benign	Het
Egfem1	G	T	3: 29,582,919	C192F	probably damaging	Het
Eif3f	A	T	7: 108,941,005	N336Y	possibly damaging	Het
Evc2	T	A	5: 37,417,449	L1016Q	probably damaging	Het
Fam114a2	G	T	11: 57,514,156	T40N	probably damaging	Het
Fam135b	T	C	15: 71,622,032	K16R	probably damaging	Het
Fcho1	A	G	8: 71,709,999	Y725H	probably damaging	Het
Frem1	T	C	4: 83,000,098	I536V	probably benign	Het
Ginm1	T	C	10: 7,775,374		probably benign	Het
Glrb	A	T	3: 80,860,315		probably benign	Het
Glt6d1	C	A	2: 25,794,727		probably null	Het
Gm10320	T	C	13: 98,489,546	Y110C	probably damaging	Het
Gm20388	G	A	8: 122,270,598		probably benign	Het
Gm3985	A	T	8: 32,942,456		noncoding transcript	Het
Gm5422	A	G	10: 31,249,754		noncoding transcript	Het
Igkv6-29	A	T	6: 70,138,770		probably benign	Het
Inpp5d	G	A	1: 87,697,546		probably null	Het
Itpr3	T	G	17: 27,120,977	V2610G	probably damaging	Het
Kmt5c	T	A	7: 4,746,208	M88K	probably benign	Het
Lrp12	C	T	15: 39,878,276	A367T	probably damaging	Het
Ltbp1	A	G	17: 75,363,391	T1476A	probably damaging	Het
Mcoln2	C	T	3: 146,183,561	T374M	probably damaging	Het
Milr1	T	G	11: 106,767,003	*209G	probably null	Het
Mitf	A	G	6: 97,807,281	K33R	probably benign	Het
Mon2	A	C	10: 123,032,694	S485A	probably damaging	Het
Mpdu1	C	T	11: 69,658,841	G47R	probably damaging	Het
Ms4a4d	A	G	19: 11,554,826	N112S	probably damaging	Het
Mybpc3	G	A	2: 91,134,833	W1082*	probably null	Het
Myl3	A	C	9: 110,767,929	D119A	probably damaging	Het
Naa15	A	T	3: 51,436,213		probably null	Het
Nav3	A	G	10: 109,823,226		probably benign	Het
Nek7	T	A	1: 138,544,204	Q66L	possibly damaging	Het
Nktr	G	A	9: 121,741,166		probably benign	Het
Nlgn1	G	T	3: 25,435,842		probably benign	Het
Npr1	T	C	3: 90,454,832	E1002G	probably damaging	Het
Nup133	A	T	8: 123,904,579	I1072N	probably damaging	Het
Oc90	C	T	15: 65,876,548	C371Y	probably damaging	Het
Olfr835	A	T	9: 19,035,322	L66F	probably damaging	Het
Olfr901	A	T	9: 38,430,920	I213F	possibly damaging	Het
Olfr994	A	T	2: 85,429,895	D311E	probably benign	Het
Pradc1	A	T	6: 85,447,231	N44K	probably damaging	Het
Pradc1	T	C	6: 85,447,620	D116G	probably damaging	Het
Ptprk	G	A	10: 28,585,969	C91Y	probably damaging	Het
Pus7	T	C	5: 23,747,845	I491V	probably benign	Het
Rock1	T	A	18: 10,084,380	D951V	probably damaging	Het
Scgb2b26	T	A	7: 33,944,349	E55D	probably damaging	Het
Scn8a	T	C	15: 101,013,573	V958A	probably damaging	Het
Sec14l1	T	C	11: 117,143,770		probably benign	Het
Sec24c	A	G	14: 20,689,261		probably benign	Het
Sema6b	C	T	17: 56,124,105	E853K	probably benign	Het
Sgk1	G	A	10: 21,997,438		probably null	Het
Shprh	C	T	10: 11,151,931	T94I	probably benign	Het
Slc16a3	T	C	11: 120,956,705	S240P	probably benign	Het
Slc5a8	T	C	10: 88,886,590	V95A	probably benign	Het
Smg1	A	T	7: 118,171,859		probably benign	Het
Spta1	G	A	1: 174,217,943	V1556I	probably benign	Het
Svs1	A	T	6: 48,988,906	H616L	probably damaging	Het
Trappc4	G	A	9: 44,405,231		probably benign	Het
Tubgcp6	A	G	15: 89,103,183	S1188P	probably benign	Het
Ube2d2b	T	C	5: 107,830,636	F51S	possibly damaging	Het
Vmn2r6	G	A	3: 64,559,545	Q178*	probably null	Het
Wdfy3	T	C	5: 101,848,349	T3234A	probably damaging	Het
Ylpm1	C	A	12: 85,029,026	Q384K	probably damaging	Het
Zbtb41	T	G	1: 139,423,530	V127G	probably damaging	Het
Zfp605	T	A	5: 110,127,534	C173S	probably benign	Het
Zfp608	A	T	18: 54,895,214		probably benign	Het
Zhx2	T	C	15: 57,821,274	V13A	possibly damaging	Het

Other mutations in Txlna

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01126:Txlna	APN	4	129634365	unclassified	probably benign
IGL01472:Txlna	APN	4	129632115	missense	probably damaging	0.99
IGL02169:Txlna	APN	4	129629613	missense	probably damaging	0.99
IGL02801:Txlna	APN	4	129640408	missense	probably damaging	1.00
R0010:Txlna	UTSW	4	129629086	missense	probably benign	0.30
R0552:Txlna	UTSW	4	129629191	missense	probably benign	0.31
R1961:Txlna	UTSW	4	129640262	missense	probably benign
R2215:Txlna	UTSW	4	129639318	missense	possibly damaging	0.89
R2279:Txlna	UTSW	4	129632142	missense	probably damaging	1.00
R5356:Txlna	UTSW	4	129630373	missense	probably damaging	1.00
R6354:Txlna	UTSW	4	129634412	missense	probably damaging	1.00
R7208:Txlna	UTSW	4	129631278	critical splice donor site	probably null
R7343:Txlna	UTSW	4	129632160	missense	probably damaging	1.00
R7615:Txlna	UTSW	4	129630319	missense	probably damaging	1.00
R7783:Txlna	UTSW	4	129632157	missense	probably damaging	1.00
R7784:Txlna	UTSW	4	129632157	missense	probably damaging	1.00
R8023:Txlna	UTSW	4	129639485	missense	probably damaging	0.98
R8331:Txlna	UTSW	4	129639486	missense	probably damaging	0.99
R9254:Txlna	UTSW	4	129637107	missense	probably damaging	1.00
R9321:Txlna	UTSW	4	129634453	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTGCCCATCCATGTAAGACTAAC -3'
(R):5'- CTGCCCAGACTTGAGGATGTGAAC -3'

Sequencing Primer
(F):5'- ATTCACAATTGCCAAGTGTCCG -3'
(R):5'- GTGAACGTCTCACTGAATGC -3'

Posted On

2013-05-09