Mutagenetix > Incidental Mutation

Incidental Mutation 'R9568:Tsnaxip1'

721765

Institutional Source

Beutler Lab

Gene Symbol

Tsnaxip1

Ensembl Gene

ENSMUSG00000031893

Gene Name

translin-associated factor X (Tsnax) interacting protein 1

Synonyms

TXI1, 1700016K08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.532) question?

Stock #

R9568 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106554363-106571312 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 106569135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 495 (R495H)

Ref Sequence

ENSEMBL: ENSMUSP00000034365 (fasta)

Gene Model

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

AlphaFold

Q99P25

Predicted Effect

probably benign
Transcript: ENSMUST00000034365
AA Change: R495H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000034365
Gene: ENSMUSG00000031893
AA Change: R495H

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

probably benign
Transcript: ENSMUST00000212566
AA Change: R495H

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	T	G	12: 113,508,020 (GRCm39)	V131G	possibly damaging	Het
Agr3	G	T	12: 35,998,349 (GRCm39)	M149I	probably benign	Het
Alox12b	T	A	11: 69,054,836 (GRCm39)	C280S	possibly damaging	Het
Amhr2	C	A	15: 102,353,954 (GRCm39)	Q16K	probably benign	Het
Ank1	A	G	8: 23,609,381 (GRCm39)	T1387A	probably benign	Het
B3gnt9	A	C	8: 105,980,203 (GRCm39)	F395C	probably damaging	Het
BC048562	A	G	9: 108,322,905 (GRCm39)	D80G	probably damaging	Het
Ccdc65	T	A	15: 98,620,819 (GRCm39)	M438K	possibly damaging	Het
Ccz1	T	C	5: 143,938,251 (GRCm39)	R240G	probably damaging	Het
Cish	A	T	9: 107,177,593 (GRCm39)	S90C	probably benign	Het
Col5a2	A	T	1: 45,430,998 (GRCm39)	S881T	possibly damaging	Het
Col6a6	G	A	9: 105,657,926 (GRCm39)	T762I	possibly damaging	Het
Cpa1	A	G	6: 30,640,060 (GRCm39)	K49E	probably benign	Het
Cpb1	T	C	3: 20,320,697 (GRCm39)		probably null	Het
Csmd3	A	G	15: 48,150,942 (GRCm39)	S483P	probably damaging	Het
Cul9	G	A	17: 46,831,044 (GRCm39)	T1643I	possibly damaging	Het
Dock2	T	C	11: 34,599,638 (GRCm39)	K314E	possibly damaging	Het
Elp1	G	T	4: 56,786,711 (GRCm39)	P411T	probably damaging	Het
Fam186b	T	G	15: 99,176,571 (GRCm39)	K773T	probably damaging	Het
Fancl	T	A	11: 26,418,672 (GRCm39)	V259E	probably benign	Het
Fat4	T	G	3: 38,946,156 (GRCm39)	I1683S	probably damaging	Het
Fcamr	T	A	1: 130,732,356 (GRCm39)	H114Q	probably damaging	Het
Fndc11	T	C	2: 180,864,046 (GRCm39)	F284L	probably damaging	Het
Galns	A	G	8: 123,311,649 (GRCm39)		probably null	Het
Gch1	A	G	14: 47,426,637 (GRCm39)	S30P	probably benign	Het
Gcnt3	A	G	9: 69,942,346 (GRCm39)	I74T	probably benign	Het
Gfral	A	T	9: 76,104,383 (GRCm39)	C210S	probably damaging	Het
Gm26566	G	A	4: 88,640,247 (GRCm39)	A13T	unknown	Het
Gm9936	A	T	5: 114,995,166 (GRCm39)	D150E	unknown	Het
Gsn	C	A	2: 35,174,003 (GRCm39)	D75E	probably benign	Het
Ighd2-7	T	C	12: 113,420,344 (GRCm39)	T5A	possibly damaging	Het
Itsn1	G	T	16: 91,649,782 (GRCm39)	R152L	probably benign	Het
Klhl3	A	T	13: 58,157,126 (GRCm39)	L620Q	probably damaging	Het
Larp7-ps	G	T	4: 92,079,915 (GRCm39)	Y24*	probably null	Het
Lpl	G	A	8: 69,340,235 (GRCm39)	V77M	probably benign	Het
Lrfn3	A	T	7: 30,058,916 (GRCm39)	H436Q	probably benign	Het
Lrp1b	A	G	2: 40,569,227 (GRCm39)	C3965R		Het
Lrrc2	G	A	9: 110,799,228 (GRCm39)		probably null	Het
Manea	C	A	4: 26,340,468 (GRCm39)	D165Y	probably damaging	Het
Myom1	A	T	17: 71,394,476 (GRCm39)	Q992L	probably damaging	Het
Naip5	T	C	13: 100,359,821 (GRCm39)	T472A	probably benign	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nyap1	C	T	5: 137,733,394 (GRCm39)	W546*	probably null	Het
Olfml3	T	G	3: 103,644,282 (GRCm39)	Y129S	possibly damaging	Het
Or4d5	A	T	9: 40,011,864 (GRCm39)	D307E	probably benign	Het
Or5h19	C	A	16: 58,856,213 (GRCm39)	V296F	probably damaging	Het
Or6z5	A	G	7: 6,477,334 (GRCm39)	E75G	probably damaging	Het
Or9k2b	T	A	10: 130,015,814 (GRCm39)	I312F	probably benign	Het
P2rx6	A	C	16: 17,385,300 (GRCm39)		probably null	Het
Plxnb2	A	T	15: 89,045,160 (GRCm39)	Y1095*	probably null	Het
Pmepa1	G	A	2: 173,069,794 (GRCm39)	R216C	probably damaging	Het
Prodh	A	G	16: 17,902,619 (GRCm39)		probably benign	Het
Ptch1	A	G	13: 63,689,987 (GRCm39)	Y389H	probably damaging	Het
Ptgs2	G	T	1: 149,976,842 (GRCm39)		probably null	Het
Rbm14	A	G	19: 4,861,464 (GRCm39)	Y25H	probably damaging	Het
Rfc2	T	C	5: 134,622,112 (GRCm39)	L197P	probably damaging	Het
Rnf19b	G	T	4: 128,967,397 (GRCm39)	W313L	probably damaging	Het
Sh3rf1	G	T	8: 61,825,585 (GRCm39)	A527S	probably benign	Het
Slc12a1	A	G	2: 125,032,218 (GRCm39)	Y623C	probably damaging	Het
Slc25a54	T	A	3: 109,005,932 (GRCm39)	W147R	probably damaging	Het
Slc4a1	A	G	11: 102,247,680 (GRCm39)	L401P	probably damaging	Het
Slc4a7	A	G	14: 14,796,073 (GRCm38)		probably null	Het
Stab2	A	G	10: 86,699,420 (GRCm39)	Y1933H	probably damaging	Het
Supt5	A	T	7: 28,014,688 (GRCm39)	V1037E	probably damaging	Het
Sv2b	A	T	7: 74,775,428 (GRCm39)	H466Q	probably benign	Het
Tmco5	G	A	2: 116,710,730 (GRCm39)	E17K	probably damaging	Het
Tmem69	G	A	4: 116,411,972 (GRCm39)	S12F	probably damaging	Het
Trp53	C	A	11: 69,478,392 (GRCm39)	Y100*	probably null	Het
Trpm7	A	T	2: 126,664,510 (GRCm39)	H956Q	probably benign	Het
Vmn1r237	A	T	17: 21,534,777 (GRCm39)	I167F	probably benign	Het
Vmn1r70	A	G	7: 10,368,292 (GRCm39)	D260G	probably benign	Het
Zbtb38	G	A	9: 96,570,944 (GRCm39)	H47Y	probably damaging	Het
Zfp184	G	T	13: 22,142,897 (GRCm39)	C201F	probably benign	Het
Zfp384	T	A	6: 125,001,796 (GRCm39)	I147N	possibly damaging	Het

Other mutations in Tsnaxip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00479:Tsnaxip1	APN	8	106,568,055 (GRCm39)	missense	probably benign	0.04
IGL00490:Tsnaxip1	APN	8	106,568,816 (GRCm39)	missense	probably damaging	1.00
IGL00849:Tsnaxip1	APN	8	106,568,800 (GRCm39)	missense	probably damaging	0.99
IGL01756:Tsnaxip1	APN	8	106,569,420 (GRCm39)	splice site	probably benign
IGL01821:Tsnaxip1	APN	8	106,564,148 (GRCm39)	missense	probably damaging	0.96
IGL02278:Tsnaxip1	APN	8	106,554,413 (GRCm39)	utr 5 prime	probably benign
IGL02290:Tsnaxip1	APN	8	106,560,119 (GRCm39)	missense	probably benign	0.00
IGL02980:Tsnaxip1	UTSW	8	106,568,842 (GRCm39)	missense	probably damaging	0.96
R0239:Tsnaxip1	UTSW	8	106,571,120 (GRCm39)	missense	possibly damaging	0.96
R0239:Tsnaxip1	UTSW	8	106,571,120 (GRCm39)	missense	possibly damaging	0.96
R1544:Tsnaxip1	UTSW	8	106,554,383 (GRCm39)	start gained	probably benign
R1939:Tsnaxip1	UTSW	8	106,566,670 (GRCm39)	missense	probably benign	0.04
R3024:Tsnaxip1	UTSW	8	106,568,375 (GRCm39)	missense	probably damaging	1.00
R3695:Tsnaxip1	UTSW	8	106,560,167 (GRCm39)	missense	possibly damaging	0.61
R3853:Tsnaxip1	UTSW	8	106,567,333 (GRCm39)	splice site	probably benign
R4044:Tsnaxip1	UTSW	8	106,560,177 (GRCm39)	splice site	probably null
R4376:Tsnaxip1	UTSW	8	106,568,433 (GRCm39)	nonsense	probably null
R4627:Tsnaxip1	UTSW	8	106,568,039 (GRCm39)	missense	probably damaging	1.00
R4790:Tsnaxip1	UTSW	8	106,560,155 (GRCm39)	missense	probably benign	0.12
R5806:Tsnaxip1	UTSW	8	106,564,128 (GRCm39)	missense	possibly damaging	0.83
R5814:Tsnaxip1	UTSW	8	106,570,603 (GRCm39)	missense	probably benign	0.00
R6045:Tsnaxip1	UTSW	8	106,570,819 (GRCm39)	missense	probably benign	0.24
R6374:Tsnaxip1	UTSW	8	106,568,172 (GRCm39)	missense	possibly damaging	0.55
R6406:Tsnaxip1	UTSW	8	106,570,615 (GRCm39)	missense	probably benign	0.14
R7915:Tsnaxip1	UTSW	8	106,569,413 (GRCm39)	missense	possibly damaging	0.88
R7918:Tsnaxip1	UTSW	8	106,571,167 (GRCm39)	missense	probably benign	0.00
R8317:Tsnaxip1	UTSW	8	106,554,438 (GRCm39)	missense	probably benign	0.07
R8377:Tsnaxip1	UTSW	8	106,569,179 (GRCm39)	missense	probably damaging	1.00
R8534:Tsnaxip1	UTSW	8	106,565,370 (GRCm39)	missense	probably damaging	1.00
R8956:Tsnaxip1	UTSW	8	106,570,813 (GRCm39)	missense	probably damaging	1.00
R9102:Tsnaxip1	UTSW	8	106,568,622 (GRCm39)	missense	probably benign	0.34
R9225:Tsnaxip1	UTSW	8	106,566,659 (GRCm39)	missense	probably damaging	1.00
R9606:Tsnaxip1	UTSW	8	106,566,685 (GRCm39)	missense	probably damaging	1.00
R9738:Tsnaxip1	UTSW	8	106,568,390 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CCCTCAAGATGGTAGGGTACAG -3'
(R):5'- AGCAACTCCTTCAGCAGATGG -3'

Sequencing Primer
(F):5'- TACAGGGTGGGGGCCAG -3'
(R):5'- CACTCTCCAAATTCTACAATGAGTG -3'

Posted On

2022-08-09