Mutagenetix > Incidental Mutations

Incidental Mutation 'R7915:Tsnaxip1'

648023

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 #

R7915 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105827731-105844680 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105842781 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 547 (S547G)

Ref Sequence

ENSEMBL: ENSMUSP00000034365 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034365
AA Change: S547G

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034365
Gene: ENSMUSG00000031893
AA Change: S547G

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

probably benign
Transcript: ENSMUST00000212431

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212566
AA Change: S547G

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (66/68)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016D06Rik	T	C	8: 11,678,645	T9A	possibly damaging	Het
Abca17	T	G	17: 24,265,533	H1585P	probably damaging	Het
Acaca	A	T	11: 84,276,588	T1063S	probably benign	Het
Actc1	T	A	2: 114,050,486	K86M	probably damaging	Het
Amz1	A	G	5: 140,741,435	N51S	probably benign	Het
Arhgap33	G	A	7: 30,523,223	P1095S	probably benign	Het
Bicra	T	C	7: 15,988,522	T357A	probably benign	Het
C130032M10Rik	A	G	9: 114,516,055	R120G	unknown	Het
Cadps	A	G	14: 12,705,544	F284L	possibly damaging	Het
Ccdc83	G	A	7: 90,244,082	Q156*	probably null	Het
Cdh20	T	A	1: 104,934,173	M26K	probably benign	Het
Cdh23	A	G	10: 60,307,889	L2979P	probably damaging	Het
Crocc2	T	C	1: 93,213,641	L1172P	probably damaging	Het
Cyp2d10	C	T	15: 82,404,427		probably null	Het
Cyp2j9	T	A	4: 96,591,384		probably benign	Het
Dgcr2	A	G	16: 17,859,402		probably null	Het
Dio3	A	G	12: 110,280,039	M270V		Het
Dll1	C	A	17: 15,368,428	D662Y	probably damaging	Het
Drd1	G	T	13: 54,053,815	P127T	probably damaging	Het
Evc2	T	C	5: 37,386,862	S652P	probably damaging	Het
Fam149a	C	A	8: 45,341,243	M708I	probably benign	Het
Fam89a	T	C	8: 124,741,156	E139G	probably damaging	Het
Gm13088	T	C	4: 143,655,745	K127R	possibly damaging	Het
Gm28710	A	G	5: 16,827,014	N556D	probably benign	Het
Gpr141	T	C	13: 19,752,559	I15M	probably benign	Het
Hcn4	G	A	9: 58,823,935	E142K	unknown	Het
Hivep3	T	A	4: 120,097,765	S1093T	possibly damaging	Het
Inpp5f	C	A	7: 128,667,709	T261K	probably benign	Het
Ints3	A	T	3: 90,432,825	D42E	probably benign	Het
Krt90	A	T	15: 101,558,403		probably null	Het
Kti12	A	C	4: 108,848,246	E119A	probably benign	Het
Kti12	G	T	4: 108,848,247	E119D	probably benign	Het
Lrig1	C	A	6: 94,630,101		probably null	Het
Mapk14	A	G	17: 28,728,954	T221A	probably benign	Het
Megf10	A	T	18: 57,240,735	T202S	probably benign	Het
Neo1	A	T	9: 58,930,981	F507I	probably benign	Het
Olfr1084	T	A	2: 86,638,766	*314L	probably null	Het
Olfr1351	A	G	10: 79,017,430	Y36C	probably damaging	Het
Olfr912	A	T	9: 38,581,673	Y132F	probably damaging	Het
Peg10	T	TCCA	6: 4,756,451		probably benign	Het
Pkd1	T	A	17: 24,592,656	Y3724*	probably null	Het
Plxnd1	T	C	6: 115,966,918	D1140G	probably benign	Het
Prex1	A	G	2: 166,621,192	S250P	probably damaging	Het
Prom1	A	T	5: 44,004,935	M777K	possibly damaging	Het
Prrc2c	A	C	1: 162,692,408	S2125A	probably benign	Het
Ptpn12	A	G	5: 21,009,451	I229T	probably damaging	Het
Ranbp6	A	G	19: 29,812,673	V93A	probably benign	Het
Rtn3	A	G	19: 7,457,500	C376R	probably benign	Het
Sis	A	C	3: 72,921,138	H1201Q	probably damaging	Het
Slc20a1	G	A	2: 129,207,837	D340N	probably benign	Het
Slc3a2	G	A	19: 8,707,818	R535W	probably damaging	Het
Slc5a2	T	A	7: 128,265,794	L33Q	probably damaging	Het
Sltm	G	T	9: 70,587,149	R927L	probably damaging	Het
Stat1	A	G	1: 52,151,281	D565G	probably benign	Het
Terb1	T	C	8: 104,447,216	K745R	possibly damaging	Het
Tescl	T	C	7: 24,333,688	I71V	probably damaging	Het
Tgm1	T	C	14: 55,700,426	D742G	probably damaging	Het
Tmem128	T	A	5: 38,266,531	W30R	probably benign	Het
Tox	T	A	4: 6,822,949	M123L	probably benign	Het
Ttn	T	A	2: 76,737,195	K27785*	probably null	Het
Usp38	A	C	8: 81,001,083	S340R	probably damaging	Het
Utrn	A	T	10: 12,465,212	H2840Q	probably damaging	Het
Vars2	T	C	17: 35,664,839	I229V	probably damaging	Het
Vmn1r16	A	T	6: 57,323,395	Y81N	probably damaging	Het
Vmn2r98	A	T	17: 19,067,231	D442V	probably benign	Het
Vps13d	T	C	4: 145,086,819	I3296V		Het
Wwtr1	A	G	3: 57,575,599		probably null	Het
Zcchc6	T	C	13: 59,784,814	I1345V	probably benign	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
R6406:Tsnaxip1	UTSW	8	105843983	missense	probably benign	0.14
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'- TTGTCCCCAGCACAGAATG -3'
(R):5'- AAACAGTTTTGTTCTAGGCTGGTC -3'

Sequencing Primer
(F):5'- AGCACAGAATGGCCCTGC -3'
(R):5'- AGGCTGGTCTGAAATTAAATAACTC -3'

Posted On

2020-09-15