Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00479:Tsnaxip1'

4972

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tsnaxip1

Ensembl Gene

ENSMUSG00000031893

Gene Name

translin-associated factor X (Tsnax) interacting protein 1

Synonyms

1700016K08Rik, TXI1

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.509) question?

Stock #

IGL00479

Quality Score

Status

Chromosome

Chromosomal Location

105827731-105844680 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105841423 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 274 (T274A)

Ref Sequence

ENSEMBL: ENSMUSP00000034365 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034365] [ENSMUST00000040776] [ENSMUST00000212431] [ENSMUST00000212566]

Predicted Effect

probably benign
Transcript: ENSMUST00000034365
AA Change: T274A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000034365
Gene: ENSMUSG00000031893
AA Change: T274A

Domain	Start	End	E-Value	Type
Pfam:TSNAXIP1_N	98	209	3.5e-33	PFAM
coiled coil region	304	342	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000040776

SMART Domains

Protein: ENSMUSP00000038188
Gene: ENSMUSG00000036672

Domain	Start	End	E-Value	Type
Pfam:CENP-T_N	1	374	4.2e-174	PFAM
Pfam:CENP-T_C	404	507	5.4e-36	PFAM
Pfam:CENP-S	424	479	3e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211949

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212357

Predicted Effect

probably benign
Transcript: ENSMUST00000212431

Predicted Effect

probably benign
Transcript: ENSMUST00000212566
AA Change: T274A

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212803

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	A	C	4: 156,170,572		probably benign	Het
Arid4a	A	G	12: 71,072,593	K651E	probably damaging	Het
Atpaf2	A	T	11: 60,409,584		probably null	Het
Cd177	G	T	7: 24,758,015	S200R	probably benign	Het
Cd209g	A	T	8: 4,135,622	T19S	probably benign	Het
Cxcr4	A	G	1: 128,589,055	W290R	probably damaging	Het
D930020B18Rik	T	C	10: 121,685,584	L491P	probably damaging	Het
Dnah7a	T	C	1: 53,419,684	D3765G	probably damaging	Het
Dpy19l4	T	G	4: 11,290,411	M327L	probably benign	Het
Eya3	G	A	4: 132,704,398	G314D	probably damaging	Het
Fam173a	A	G	17: 25,791,444	Y104H	probably damaging	Het
Fmo1	G	A	1: 162,830,063	T503I	probably benign	Het
Galnt3	A	G	2: 66,095,284	S370P	probably damaging	Het
Gm5431	A	T	11: 48,895,414	S45T	probably benign	Het
Gnai3	A	G	3: 108,115,757		probably benign	Het
Gpat2	A	G	2: 127,434,461	E637G	probably damaging	Het
Gpr84	T	C	15: 103,309,407	Y81C	probably damaging	Het
Hnmt	A	T	2: 24,003,884	Y199*	probably null	Het
Homer1	G	T	13: 93,346,648	R81L	probably damaging	Het
Hspa4	A	T	11: 53,280,717		probably null	Het
March6	A	G	15: 31,475,763	I649T	probably benign	Het
Mcm8	A	G	2: 132,817,174	N26S	probably benign	Het
Mgat5	T	C	1: 127,387,467	L310P	probably damaging	Het
Pah	T	C	10: 87,578,893	L369P	probably benign	Het
Parp4	A	C	14: 56,616,460	K844N	possibly damaging	Het
Tlr5	A	G	1: 182,973,829	T233A	probably benign	Het
Wdr48	A	G	9: 119,905,390	Y125C	probably damaging	Het

Other mutations in Tsnaxip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Tsnaxip1	APN	8	105842184	missense	probably damaging	1.00
IGL00849:Tsnaxip1	APN	8	105842168	missense	probably damaging	0.99
IGL01756:Tsnaxip1	APN	8	105842788	splice site	probably benign
IGL01821:Tsnaxip1	APN	8	105837516	missense	probably damaging	0.96
IGL02278:Tsnaxip1	APN	8	105827781	utr 5 prime	probably benign
IGL02290:Tsnaxip1	APN	8	105833487	missense	probably benign	0.00
IGL02980:Tsnaxip1	UTSW	8	105842210	missense	probably damaging	0.96
R0239:Tsnaxip1	UTSW	8	105844488	missense	possibly damaging	0.96
R0239:Tsnaxip1	UTSW	8	105844488	missense	possibly damaging	0.96
R1544:Tsnaxip1	UTSW	8	105827751	start gained	probably benign
R1939:Tsnaxip1	UTSW	8	105840038	missense	probably benign	0.04
R3024:Tsnaxip1	UTSW	8	105841743	missense	probably damaging	1.00
R3695:Tsnaxip1	UTSW	8	105833535	missense	possibly damaging	0.61
R3853:Tsnaxip1	UTSW	8	105840701	splice site	probably benign
R4044:Tsnaxip1	UTSW	8	105833545	splice site	probably null
R4376:Tsnaxip1	UTSW	8	105841801	nonsense	probably null
R4627:Tsnaxip1	UTSW	8	105841407	missense	probably damaging	1.00
R4790:Tsnaxip1	UTSW	8	105833523	missense	probably benign	0.12
R5806:Tsnaxip1	UTSW	8	105837496	missense	possibly damaging	0.83
R5814:Tsnaxip1	UTSW	8	105843971	missense	probably benign	0.00
R6045:Tsnaxip1	UTSW	8	105844187	missense	probably benign	0.24
R6374:Tsnaxip1	UTSW	8	105841540	missense	possibly damaging	0.55
R6406:Tsnaxip1	UTSW	8	105843983	missense	probably benign	0.14
R7915:Tsnaxip1	UTSW	8	105842781	missense	possibly damaging	0.88
R7918:Tsnaxip1	UTSW	8	105844535	missense	probably benign	0.00
R8317:Tsnaxip1	UTSW	8	105827806	missense	probably benign	0.07
R8377:Tsnaxip1	UTSW	8	105842547	missense	probably damaging	1.00
R8534:Tsnaxip1	UTSW	8	105838738	missense	probably damaging	1.00

Posted On

2012-04-20