Mutagenetix > Incidental Mutations

Incidental Mutation 'R6406:Tsnaxip1'

516306

Institutional Source

Beutler Lab

Gene Symbol

Tsnaxip1

Ensembl Gene

ENSMUSG00000031893

Gene Name

translin-associated factor X (Tsnax) interacting protein 1

Synonyms

1700016K08Rik, TXI1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.509) question?

Stock #

R6406 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105827731-105844680 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 105843983 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 578 (T578I)

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: T578I

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000034365
Gene: ENSMUSG00000031893
AA Change: T578I

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: ENSMUST00000212204

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212357

Predicted Effect

probably benign
Transcript: ENSMUST00000212431

Predicted Effect

probably benign
Transcript: ENSMUST00000212566

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212625

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212803

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212873

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

96% (48/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	C	T	17: 45,506,939	P29L	probably benign	Het
Acsm1	A	G	7: 119,662,261	N567S	probably benign	Het
Ahi1	T	G	10: 20,977,049	N505K	probably damaging	Het
Ank2	T	A	3: 127,032,225	D356V	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857		probably null	Het
Bpifb6	C	A	2: 153,904,537	T117K	possibly damaging	Het
C2cd6	T	C	1: 59,058,676	E418G	possibly damaging	Het
Cbx1	A	T	11: 96,801,538	K84*	probably null	Het
Cr2	A	G	1: 195,169,771	L90P	probably damaging	Het
Dclk1	A	G	3: 55,480,406	D91G	probably damaging	Het
Dock1	C	A	7: 135,145,486	Q1509K	probably benign	Het
Fzd1	T	G	5: 4,756,089	T498P	probably damaging	Het
Galnt12	A	G	4: 47,122,534	N271S	probably benign	Het
Gm12888	A	G	4: 121,319,457	I49T	possibly damaging	Het
Gria4	A	T	9: 4,427,077	W788R	probably damaging	Het
Ilf3	C	T	9: 21,396,244	A379V	probably damaging	Het
Islr2	A	G	9: 58,199,980	V43A	probably benign	Het
Jag1	T	A	2: 137,087,643	N782I	probably damaging	Het
Klhl8	T	A	5: 103,863,115	I539F	possibly damaging	Het
Lama5	A	T	2: 180,197,464	C750*	probably null	Het
Lrrc37a	T	A	11: 103,497,535	T2355S	unknown	Het
Lrrc8a	A	G	2: 30,257,091	H639R	possibly damaging	Het
Map1a	A	T	2: 121,300,743	D442V	probably damaging	Het
Mier3	T	C	13: 111,709,809		probably null	Het
Msantd1	C	A	5: 34,923,321		probably null	Het
Ncapd2	C	A	6: 125,173,878	A785S	probably benign	Het
Ncbp2	CTCGTCTGG	C	16: 31,956,341		probably null	Het
Ncbp2	CGTCTGGATG	CG	16: 31,956,343		probably null	Het
Ndst4	T	C	3: 125,438,501	S240P	probably benign	Het
Nek9	T	C	12: 85,339,172	D17G	probably damaging	Het
Nkx6-1	C	T	5: 101,663,811	A142T	unknown	Het
Nt5dc1	T	C	10: 34,324,408	H205R	probably benign	Het
Olfr1012	T	A	2: 85,760,307	Q23L	possibly damaging	Het
Olfr1442	T	C	19: 12,674,820	I205T	probably benign	Het
Pafah1b1	A	G	11: 74,682,272	M322T	probably benign	Het
Parp2	A	G	14: 50,819,477	N353D	probably benign	Het
Pdcd6ip	T	C	9: 113,674,344	N452S	possibly damaging	Het
Pkd1l2	A	G	8: 117,035,847	V1397A	probably damaging	Het
Prkdc	T	A	16: 15,717,801	L1675Q	probably damaging	Het
Ptprt	T	C	2: 161,553,783	I1157V	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,926		probably benign	Het
Sele	G	T	1: 164,050,743	C217F	probably damaging	Het
Spats1	T	A	17: 45,457,265	H125L	probably damaging	Het
Stard3	T	C	11: 98,378,769	V330A	probably benign	Het
Synj2	T	A	17: 6,019,571		probably benign	Het
Thoc1	T	A	18: 9,977,963	F301L	probably damaging	Het
Thumpd3	G	A	6: 113,055,963	E221K	probably damaging	Het
Trim61	T	C	8: 65,013,725	T295A	possibly damaging	Het
Trp53bp1	T	C	2: 121,270,612	Q35R	probably damaging	Het

Other mutations in Tsnaxip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00479:Tsnaxip1	APN	8	105841423	missense	probably benign	0.04
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
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

Predicted Primers

PCR Primer
(F):5'- GGATCATTATGAGTTCAAGGACTCTC -3'
(R):5'- ACAGCCTCTGCACAAATGGC -3'

Sequencing Primer
(F):5'- GTGGCTCACAACCATCTGTAATGG -3'
(R):5'- TGCACAAATGGCTCACTCTG -3'

Posted On

2018-05-04