Mutagenetix > Incidental Mutations

Incidental Mutation 'R7784:Txlna'

599430

Institutional Source

Beutler Lab

Gene Symbol

Txlna

Ensembl Gene

ENSMUSG00000053841

Gene Name

taxilin alpha

Synonyms

2600010N21Rik, Txln, IL14

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

R7784 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129626078-129641065 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 129632157 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 299 (R299H)

Ref Sequence

ENSEMBL: ENSMUSP00000042153 (fasta)

Gene Model

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

AlphaFold

Q6PAM1

Predicted Effect

probably damaging
Transcript: ENSMUST00000046425
AA Change: R299H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042153
Gene: ENSMUSG00000053841
AA Change: R299H

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: R299H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000081285
Gene: ENSMUSG00000053841
AA Change: R299H

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

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,182,828		probably null	Het
3425401B19Rik	A	T	14: 32,659,840	S1389R	probably benign	Het
Abca9	A	T	11: 110,154,417	C363*	probably null	Het
Actbl2	T	A	13: 111,255,411	N93K	probably damaging	Het
Adamtsl3	T	C	7: 82,573,989	Y993H	probably damaging	Het
Adgrg1	G	A	8: 95,012,882	W653*	probably null	Het
Akap13	T	A	7: 75,610,328	V97D	probably benign	Het
C130026I21Rik	T	A	1: 85,212,474		probably null	Het
Cacna1d	T	A	14: 30,123,439	D613V	probably damaging	Het
Col10a1	C	A	10: 34,394,218	P62H	unknown	Het
Cpb2	A	T	14: 75,275,040	N298Y	probably damaging	Het
Ddc	A	G	11: 11,839,396		probably null	Het
Ddx6	T	C	9: 44,630,142		probably null	Het
Epb42	T	G	2: 121,034,435	K58N	probably benign	Het
Eps8	T	A	6: 137,499,587	I605L	probably benign	Het
Eps8l1	T	C	7: 4,472,122	L304P	probably damaging	Het
Erbb4	T	A	1: 68,075,499	I929F	probably damaging	Het
Erc2	A	T	14: 27,898,594	N393I	probably damaging	Het
Fbxw25	C	T	9: 109,650,119	D355N		Het
Ffar2	T	C	7: 30,819,258	K286E	probably benign	Het
Gabrd	A	G	4: 155,388,932		probably null	Het
Ganc	G	A	2: 120,436,668	W488*	probably null	Het
Gm5724	C	T	6: 141,713,193		probably null	Het
Ifi207	T	A	1: 173,730,132	M347L	unknown	Het
Kat6b	A	T	14: 21,660,841	I619F	probably damaging	Het
Kif26a	A	G	12: 112,178,147	R1612G	possibly damaging	Het
Kifc3	A	G	8: 95,110,692		probably null	Het
Krt39	A	T	11: 99,521,031	C76*	probably null	Het
Lcmt1	G	T	7: 123,401,495	R84L	probably benign	Het
Lrit1	A	G	14: 37,061,780	Y355C	probably benign	Het
Mad2l1	C	A	6: 66,535,413		probably null	Het
Med23	C	T	10: 24,902,448	T870M	probably damaging	Het
Mrpl2	A	G	17: 46,648,591		probably null	Het
Mtmr6	A	G	14: 60,300,445	D593G	probably benign	Het
Myo15b	G	A	11: 115,861,340	V683M		Het
Neb	T	A	2: 52,235,488	M506L		Het
Olfr103	T	C	17: 37,336,578	Y218C	probably benign	Het
Olfr103	A	G	17: 37,337,055	F59S	probably damaging	Het
Olfr1154	G	A	2: 87,903,193	T161I	probably benign	Het
Olfr434	T	A	6: 43,217,388	H158Q	possibly damaging	Het
Pdzd8	A	G	19: 59,327,863	F294L	probably damaging	Het
Rabgap1	G	A	2: 37,487,532	S347N	possibly damaging	Het
Rasgrf2	T	C	13: 91,896,082	T350A		Het
Rbp3	A	T	14: 33,954,158	H21L	probably benign	Het
Rp1	C	A	1: 4,142,658	V1069F	unknown	Het
Rtn4	T	A	11: 29,741,048	L1113*	probably null	Het
Ryr3	A	G	2: 112,775,695	F2407L	probably damaging	Het
Sept2	T	A	1: 93,497,444	D107E	probably damaging	Het
Sept4	A	G	11: 87,579,008	T7A	probably benign	Het
Slc34a3	T	A	2: 25,232,225	I123F	probably damaging	Het
Slc9a4	T	C	1: 40,600,776	Y243H	probably damaging	Het
Slco1a1	T	A	6: 141,943,388	E66V	probably damaging	Het
Spata33	A	G	8: 123,213,252	R68G	unknown	Het
Spta1	G	A	1: 174,202,451	D928N	probably damaging	Het
St8sia5	A	G	18: 77,254,550	S319G	probably benign	Het
Tmem208	A	G	8: 105,328,833	D149G	possibly damaging	Het
Trank1	A	T	9: 111,364,103	I583F	probably damaging	Het
Trio	C	T	15: 27,763,994	V2015M	probably damaging	Het
Tsc22d1	C	T	14: 76,416,701	Q207*	probably null	Het
Tshr	A	G	12: 91,505,305	D143G	probably benign	Het
Ush2a	A	T	1: 188,444,592	T1318S	possibly damaging	Het
Utp14b	A	G	1: 78,664,943	K186R	probably damaging	Het
Vars2	C	T	17: 35,658,158	A884T	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240		probably benign	Het
Zfp775	A	G	6: 48,619,249	Q19R	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
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
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'- CAGGGATAAGCACTGGTGTGTG -3'
(R):5'- TTTGTGCAAGGCTGGCAAC -3'

Sequencing Primer
(F):5'- TCTACAGGATACATCTCTTGAAGG -3'
(R):5'- GCTGGCAACTATGGACAATTC -3'

Posted On

2019-11-26