Mutagenetix > Incidental Mutation

Incidental Mutation 'R7488:Txnip'

580315

Institutional Source

Beutler Lab

Gene Symbol

Txnip

Ensembl Gene

ENSMUSG00000038393

Gene Name

thioredoxin interacting protein

Synonyms

mVDUP1, VDUP1, Hyplip1, THIF

MMRRC Submission

045562-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7488 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96465273-96469173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96467539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 336 (M336T)

Ref Sequence

ENSEMBL: ENSMUSP00000102710 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049093] [ENSMUST00000074519]

AlphaFold

Q8BG60

Predicted Effect

probably benign
Transcript: ENSMUST00000049093
AA Change: M335T

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000041467
Gene: ENSMUSG00000038393
AA Change: M335T

Domain	Start	End	E-Value	Type
Pfam:Arrestin_N	10	152	6.8e-26	PFAM
Arrestin_C	174	301	6.4e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000074519
AA Change: M336T

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000102710
Gene: ENSMUSG00000038393
AA Change: M336T

Domain	Start	End	E-Value	Type
Pfam:Arrestin_N	10	153	1.1e-25	PFAM
Arrestin_C	175	302	6.4e-18	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a thioredoxin-binding protein that is a member of the alpha arrestin protein family. Thioredoxin is a thiol-oxidoreductase that is a major regulator of cellular redox signaling which protects cells from oxidative stress. This protein inhibits the antioxidative function of thioredoxin resulting in the accumulation of reactive oxygen species and cellular stress. This protein also functions as a regulator of cellular metabolism and of endoplasmic reticulum (ER) stress. This protein may also function as a tumor suppressor. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mice display impaired natural killer cell development and activity, hyperplasia of lymphoid tissue in the ileum, and increased T cell proliferation. Lipid metabolism and blood clotting were also affected by another null mutation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,197,179 (GRCm39)	F251I	possibly damaging	Het
Abcb11	C	T	2: 69,108,146 (GRCm39)	G717D	probably benign	Het
Abcc1	G	A	16: 14,207,763 (GRCm39)	W47*	probably null	Het
Ahnak2	A	G	12: 112,748,641 (GRCm39)	I402T		Het
Ankfy1	G	A	11: 72,650,769 (GRCm39)	R984Q	probably benign	Het
Apaf1	A	G	10: 90,890,242 (GRCm39)	I598T	probably benign	Het
Apobec1	G	T	6: 122,558,521 (GRCm39)	P78Q	possibly damaging	Het
Asap1	A	T	15: 63,991,974 (GRCm39)	I737N	probably benign	Het
Aste1	T	A	9: 105,279,904 (GRCm39)		probably null	Het
Bcr	A	C	10: 74,996,162 (GRCm39)	D902A	possibly damaging	Het
Bicra	T	C	7: 15,723,367 (GRCm39)		probably null	Het
Ccdc27	T	C	4: 154,117,424 (GRCm39)	T508A	probably benign	Het
Ccz1	T	A	5: 143,928,401 (GRCm39)	N383I	probably damaging	Het
Cdh24	T	C	14: 54,869,637 (GRCm39)	D760G	possibly damaging	Het
Cdhr2	T	C	13: 54,865,728 (GRCm39)	I242T	probably benign	Het
Cdk4	T	A	10: 126,900,106 (GRCm39)	M1K	probably null	Het
Cfap96	A	G	8: 46,415,331 (GRCm39)	V225A	probably benign	Het
Cntn5	A	T	9: 9,970,570 (GRCm39)	S302T	probably damaging	Het
Col25a1	G	T	3: 130,378,350 (GRCm39)	G601V	probably damaging	Het
Cpb1	A	G	3: 20,324,488 (GRCm39)	L62P	possibly damaging	Het
Cpne1	T	C	2: 155,919,857 (GRCm39)	T264A	probably benign	Het
Cpvl	T	A	6: 53,924,727 (GRCm39)	N198Y	probably damaging	Het
Cyp2u1	A	C	3: 131,091,596 (GRCm39)	L308R	probably damaging	Het
Ddx54	G	T	5: 120,762,789 (GRCm39)	V637L	probably benign	Het
Dglucy	C	A	12: 100,823,310 (GRCm39)	P472T	possibly damaging	Het
Dync2h1	A	G	9: 7,124,855 (GRCm39)	Y2006H	probably benign	Het
Eif5b	T	C	1: 38,089,387 (GRCm39)	M1121T	possibly damaging	Het
Emsy	A	G	7: 98,264,762 (GRCm39)	V545A	possibly damaging	Het
Ezh1	G	A	11: 101,091,726 (GRCm39)	L480F	possibly damaging	Het
Fbln2	T	A	6: 91,242,845 (GRCm39)		probably null	Het
Gja10	T	A	4: 32,602,058 (GRCm39)	K109*	probably null	Het
Gm28042	A	G	2: 119,870,438 (GRCm39)	N762S	probably benign	Het
Gnb1l	C	A	16: 18,359,220 (GRCm39)	P7Q	possibly damaging	Het
Grem2	A	T	1: 174,664,685 (GRCm39)	S55T	probably damaging	Het
Gsn	A	T	2: 35,186,433 (GRCm39)	N393I	possibly damaging	Het
H6pd	T	A	4: 150,067,093 (GRCm39)	Q439L	probably benign	Het
Hmcn2	G	A	2: 31,310,842 (GRCm39)	G3362E	probably damaging	Het
Ighv11-2	T	C	12: 114,011,978 (GRCm39)	Y79C	probably damaging	Het
Ikzf2	T	A	1: 69,578,544 (GRCm39)	N322Y	probably benign	Het
Il25	A	G	14: 55,170,459 (GRCm39)	I11V	probably benign	Het
Jak2	C	T	19: 29,275,783 (GRCm39)	T741I	probably damaging	Het
Kdm3b	T	C	18: 34,957,934 (GRCm39)	S1300P	probably damaging	Het
Ldb3	T	A	14: 34,289,402 (GRCm39)	Q268L	probably damaging	Het
Lrrc23	T	A	6: 124,756,075 (GRCm39)	D6V	unknown	Het
Megf10	A	G	18: 57,324,187 (GRCm39)	Y76C	probably damaging	Het
Neb	A	T	2: 52,110,233 (GRCm39)	M205K	probably benign	Het
Or12e8	T	C	2: 87,188,597 (GRCm39)	S270P	probably damaging	Het
Or6c2b	G	T	10: 128,947,605 (GRCm39)	Q230K	probably benign	Het
Or8a1	A	G	9: 37,641,983 (GRCm39)	S99P	probably damaging	Het
Pcnx3	G	A	19: 5,717,487 (GRCm39)	R1541W	possibly damaging	Het
Pdgfd	A	G	9: 6,359,739 (GRCm39)	Y270C	probably damaging	Het
Pds5b	A	T	5: 150,646,802 (GRCm39)	D197V	probably damaging	Het
Pknox2	A	G	9: 36,866,127 (GRCm39)	M30T	probably benign	Het
Plekhg1	A	T	10: 3,907,491 (GRCm39)	S858C		Het
Por	A	T	5: 135,762,498 (GRCm39)	E400D	probably benign	Het
Pou2af2	C	A	9: 51,201,360 (GRCm39)	R232L	probably damaging	Het
Psip1	A	G	4: 83,391,275 (GRCm39)		probably null	Het
Retreg1	G	T	15: 25,889,628 (GRCm39)	V111F		Het
Rock1	G	A	18: 10,122,762 (GRCm39)	A353V	probably damaging	Het
Rpl6	C	G	5: 121,346,591 (GRCm39)	R231G	probably benign	Het
Scn7a	C	T	2: 66,587,574 (GRCm39)	R43H	probably benign	Het
Scnn1g	T	A	7: 121,362,657 (GRCm39)	N488K	probably benign	Het
Slc24a1	A	G	9: 64,831,764 (GRCm39)	V1111A	probably benign	Het
Snapc1	C	T	12: 74,029,285 (GRCm39)	S356L	probably benign	Het
Spata31e2	T	C	1: 26,723,039 (GRCm39)	T714A	possibly damaging	Het
Ssbp2	T	A	13: 91,823,209 (GRCm39)	N201K	probably damaging	Het
Tfdp2	A	G	9: 96,179,695 (GRCm39)	N43D	probably damaging	Het
Tmprss11d	A	G	5: 86,474,309 (GRCm39)	I216T	probably damaging	Het
Tmprss4	A	G	9: 45,086,853 (GRCm39)	S303P	probably benign	Het
Tnpo2	A	G	8: 85,781,663 (GRCm39)	E815G	probably benign	Het
Trav6-1	A	C	14: 52,875,972 (GRCm39)	M1L	possibly damaging	Het
Trpm3	T	C	19: 22,955,937 (GRCm39)	V1133A	probably damaging	Het
Trpv1	C	T	11: 73,129,355 (GRCm39)	P91S	probably benign	Het
Trpv2	T	C	11: 62,480,576 (GRCm39)	Y338H	probably damaging	Het
Vmn1r61	A	T	7: 5,613,767 (GRCm39)	H182Q	possibly damaging	Het
Vmn2r105	A	G	17: 20,429,045 (GRCm39)	V677A	probably damaging	Het
Wwp1	G	T	4: 19,627,660 (GRCm39)	T745K	probably damaging	Het
Xkr5	C	A	8: 18,983,608 (GRCm39)	E645*	probably null	Het
Zfp451	C	T	1: 33,818,221 (GRCm39)	R303H	probably benign	Het
Zyg11b	T	C	4: 108,123,655 (GRCm39)	H104R	possibly damaging	Het

Other mutations in Txnip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02297:Txnip	APN	3	96,465,673 (GRCm39)	missense	probably damaging	1.00
IGL02953:Txnip	APN	3	96,465,682 (GRCm39)	missense	probably damaging	0.97
IGL03066:Txnip	APN	3	96,466,934 (GRCm39)	missense	probably damaging	0.97
P0029:Txnip	UTSW	3	96,467,679 (GRCm39)	splice site	probably null
R0336:Txnip	UTSW	3	96,467,295 (GRCm39)	missense	probably benign	0.00
R1604:Txnip	UTSW	3	96,466,277 (GRCm39)	missense	probably benign	0.18
R1988:Txnip	UTSW	3	96,467,066 (GRCm39)	missense	possibly damaging	0.50
R4603:Txnip	UTSW	3	96,465,604 (GRCm39)	missense	probably benign
R4659:Txnip	UTSW	3	96,466,743 (GRCm39)	missense	probably damaging	1.00
R4845:Txnip	UTSW	3	96,466,916 (GRCm39)	missense	probably benign	0.36
R6787:Txnip	UTSW	3	96,467,623 (GRCm39)	missense	probably damaging	1.00
R6992:Txnip	UTSW	3	96,466,439 (GRCm39)	missense	possibly damaging	0.47
R7241:Txnip	UTSW	3	96,466,991 (GRCm39)	missense	probably damaging	1.00
R7663:Txnip	UTSW	3	96,467,153 (GRCm39)	missense	possibly damaging	0.82
R8151:Txnip	UTSW	3	96,466,929 (GRCm39)	missense	possibly damaging	0.94
R8669:Txnip	UTSW	3	96,466,252 (GRCm39)	missense	probably damaging	1.00
R9582:Txnip	UTSW	3	96,465,659 (GRCm39)	nonsense	probably null
X0050:Txnip	UTSW	3	96,467,094 (GRCm39)	missense	probably damaging	1.00
X0057:Txnip	UTSW	3	96,466,281 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTAGTGATTGGCAGCAGGTCTG -3'
(R):5'- GGACAAAATGTTGACCCTGTGAG -3'

Sequencing Primer
(F):5'- AGCAGGTCTGGTCTGAGCAG -3'
(R):5'- TGACCCTGTGAGAATAGCAGTTC -3'

Posted On

2019-10-07