Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01472:Txlna'

88286

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Txlna

Ensembl Gene

ENSMUSG00000053841

Gene Name

taxilin alpha

Synonyms

2600010N21Rik, Txln, IL14

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

IGL01472

Quality Score

Status

Chromosome

Chromosomal Location

129519871-129534858 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129525908 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 313 (I313T)

Ref Sequence

ENSEMBL: ENSMUSP00000081285 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046425] [ENSMUST00000084264] [ENSMUST00000132217] [ENSMUST00000133803] [ENSMUST00000154105]

AlphaFold

Q6PAM1

Predicted Effect

probably damaging
Transcript: ENSMUST00000046425
AA Change: I313T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000042153
Gene: ENSMUSG00000053841
AA Change: I313T

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 damaging
Transcript: ENSMUST00000084264
AA Change: I313T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000081285
Gene: ENSMUSG00000053841
AA Change: I313T

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: ENSMUST00000132217

SMART Domains

Protein: ENSMUSP00000118301
Gene: ENSMUSG00000053841

Domain	Start	End	E-Value	Type
low complexity region	91	107	N/A	INTRINSIC
Pfam:Taxilin	166	248	3.2e-25	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

Predicted Effect

probably benign
Transcript: ENSMUST00000154105

SMART Domains

Protein: ENSMUSP00000122382
Gene: ENSMUSG00000053841

Domain	Start	End	E-Value	Type
low complexity region	91	107	N/A	INTRINSIC
Pfam:Taxilin	166	254	2.7e-28	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	G	A	7: 119,153,759 (GRCm39)		probably null	Het
Adamts4	T	C	1: 171,080,419 (GRCm39)	F324S	probably damaging	Het
Alg10b	T	A	15: 90,111,900 (GRCm39)	L248Q	possibly damaging	Het
Antxr2	T	A	5: 98,175,358 (GRCm39)	T90S	probably benign	Het
Arhgap21	C	T	2: 20,854,392 (GRCm39)	E1657K	probably damaging	Het
Atp13a5	T	G	16: 29,094,175 (GRCm39)	D803A	probably damaging	Het
Bzw2	T	C	12: 36,159,795 (GRCm39)	D185G	probably damaging	Het
Camta2	A	G	11: 70,574,950 (GRCm39)	S62P	probably damaging	Het
Cep85	T	C	4: 133,861,477 (GRCm39)	Q599R	possibly damaging	Het
Chsy3	G	A	18: 59,309,439 (GRCm39)	V231I	probably damaging	Het
Cnbd2	C	T	2: 156,217,268 (GRCm39)	R457W	probably damaging	Het
Col20a1	A	G	2: 180,649,625 (GRCm39)	T1036A	probably benign	Het
Colgalt2	T	C	1: 152,382,629 (GRCm39)	Y494H	probably damaging	Het
Cox15	G	T	19: 43,732,104 (GRCm39)	Y237*	probably null	Het
Cpne9	C	A	6: 113,269,983 (GRCm39)	S281Y	possibly damaging	Het
D830013O20Rik	G	A	12: 73,411,090 (GRCm39)		noncoding transcript	Het
Dnah5	C	T	15: 28,331,872 (GRCm39)	R2153C	probably damaging	Het
Fam228a	A	G	12: 4,765,610 (GRCm39)	I267T	possibly damaging	Het
Fat4	G	A	3: 38,942,219 (GRCm39)	A371T	probably damaging	Het
Gm1818	T	C	12: 48,603,072 (GRCm39)		noncoding transcript	Het
Gm5592	T	C	7: 40,935,498 (GRCm39)		probably benign	Het
Golga4	C	A	9: 118,361,642 (GRCm39)	L207I	probably damaging	Het
Gtf3c1	A	G	7: 125,250,226 (GRCm39)		probably benign	Het
Hao1	C	T	2: 134,396,150 (GRCm39)	E35K	probably benign	Het
Iqch	T	C	9: 63,455,216 (GRCm39)	I194V	probably benign	Het
Ism1	A	T	2: 139,599,223 (GRCm39)	T392S	probably damaging	Het
Lcmt1	A	G	7: 123,027,376 (GRCm39)	Y313C	probably damaging	Het
Loxl4	A	G	19: 42,585,988 (GRCm39)	C718R	probably damaging	Het
Lyar	T	G	5: 38,382,066 (GRCm39)	I16R	possibly damaging	Het
Map3k20	T	C	2: 72,185,897 (GRCm39)		probably benign	Het
Mtus1	T	C	8: 41,455,449 (GRCm39)	T941A	probably benign	Het
Myh8	A	G	11: 67,179,205 (GRCm39)		probably benign	Het
Myof	T	C	19: 37,911,524 (GRCm39)	D1482G	probably benign	Het
Nr4a3	C	A	4: 48,071,133 (GRCm39)	A534D	probably damaging	Het
Oas1c	A	G	5: 120,940,986 (GRCm39)	V269A	probably damaging	Het
Odf2	T	A	2: 29,783,071 (GRCm39)	S5T	probably damaging	Het
Or5d36	T	A	2: 87,901,322 (GRCm39)	T135S	possibly damaging	Het
Or5p4	T	C	7: 107,680,411 (GRCm39)	S137P	probably benign	Het
Or9s27	T	A	1: 92,516,694 (GRCm39)	M214K	possibly damaging	Het
Pbk	A	G	14: 66,054,159 (GRCm39)	T235A	probably benign	Het
Phrf1	T	C	7: 140,836,403 (GRCm39)		probably benign	Het
Prkci	A	G	3: 31,104,341 (GRCm39)	D568G	probably damaging	Het
Prom2	T	A	2: 127,374,802 (GRCm39)	Y578F	probably benign	Het
Prph	T	C	15: 98,956,474 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,502,593 (GRCm39)	V3527A	probably benign	Het
Scn10a	C	T	9: 119,446,829 (GRCm39)	V1400I	probably damaging	Het
Slc10a2	A	G	8: 5,141,652 (GRCm39)	L244P	probably damaging	Het
Tardbp	A	G	4: 148,706,521 (GRCm39)	V96A	probably benign	Het
Tbc1d4	C	A	14: 101,727,300 (GRCm39)	E504*	probably null	Het
Tmed3	T	C	9: 89,584,928 (GRCm39)	E109G	probably benign	Het
Tnc	C	T	4: 63,924,656 (GRCm39)	R1014H	probably benign	Het
Tpcn2	C	T	7: 144,821,115 (GRCm39)	R313Q	probably damaging	Het
Trim45	A	G	3: 100,835,381 (GRCm39)	T455A	probably benign	Het
Vmn1r202	A	T	13: 22,686,159 (GRCm39)	I86K	possibly damaging	Het
Vmn2r14	C	A	5: 109,364,180 (GRCm39)	E579*	probably null	Het
Wrn	T	A	8: 33,819,200 (GRCm39)	I8F	possibly damaging	Het
Zc3h18	A	G	8: 123,143,396 (GRCm39)		probably benign	Het
Zfyve26	A	T	12: 79,323,117 (GRCm39)	H876Q	probably benign	Het
Znrf2	C	T	6: 54,840,957 (GRCm39)	T177I	probably damaging	Het

Other mutations in Txlna

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01126:Txlna	APN	4	129,528,158 (GRCm39)	unclassified	probably benign
IGL02169:Txlna	APN	4	129,523,406 (GRCm39)	missense	probably damaging	0.99
IGL02801:Txlna	APN	4	129,534,201 (GRCm39)	missense	probably damaging	1.00
R0010:Txlna	UTSW	4	129,522,879 (GRCm39)	missense	probably benign	0.30
R0010:Txlna	UTSW	4	129,522,879 (GRCm39)	missense	probably benign	0.30
R0552:Txlna	UTSW	4	129,522,984 (GRCm39)	missense	probably benign	0.31
R1961:Txlna	UTSW	4	129,534,055 (GRCm39)	missense	probably benign
R2215:Txlna	UTSW	4	129,533,111 (GRCm39)	missense	possibly damaging	0.89
R2279:Txlna	UTSW	4	129,525,935 (GRCm39)	missense	probably damaging	1.00
R5356:Txlna	UTSW	4	129,524,166 (GRCm39)	missense	probably damaging	1.00
R6354:Txlna	UTSW	4	129,528,205 (GRCm39)	missense	probably damaging	1.00
R7208:Txlna	UTSW	4	129,525,071 (GRCm39)	critical splice donor site	probably null
R7343:Txlna	UTSW	4	129,525,953 (GRCm39)	missense	probably damaging	1.00
R7615:Txlna	UTSW	4	129,524,112 (GRCm39)	missense	probably damaging	1.00
R7783:Txlna	UTSW	4	129,525,950 (GRCm39)	missense	probably damaging	1.00
R7784:Txlna	UTSW	4	129,525,950 (GRCm39)	missense	probably damaging	1.00
R8023:Txlna	UTSW	4	129,533,278 (GRCm39)	missense	probably damaging	0.98
R8331:Txlna	UTSW	4	129,533,279 (GRCm39)	missense	probably damaging	0.99
R9254:Txlna	UTSW	4	129,530,900 (GRCm39)	missense	probably damaging	1.00
R9321:Txlna	UTSW	4	129,528,246 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-18