Mutagenetix > Incidental Mutation

Incidental Mutation 'R7663:Txnip'

591690

Institutional Source

Beutler Lab

Gene Symbol

Txnip

Ensembl Gene

ENSMUSG00000038393

Gene Name

thioredoxin interacting protein

Synonyms

mVDUP1, VDUP1, Hyplip1, THIF

MMRRC Submission

045738-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7663 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96465273-96469173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96467153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 276 (S276P)

Ref Sequence

ENSEMBL: ENSMUSP00000102710 (fasta)

Gene Model

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

AlphaFold

Q8BG60

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049093
AA Change: S275P

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000041467
Gene: ENSMUSG00000038393
AA Change: S275P

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

possibly damaging
Transcript: ENSMUST00000074519
AA Change: S276P

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102710
Gene: ENSMUSG00000038393
AA Change: S276P

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

Meta Mutation Damage Score

0.1171

Coding Region Coverage

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

Validation Efficiency

99% (68/69)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,771,887 (GRCm39)	T359A	probably damaging	Het
Abcd4	A	C	12: 84,652,903 (GRCm39)	V433G	probably damaging	Het
Acot5	C	A	12: 84,116,355 (GRCm39)	R39S	probably damaging	Het
Actl9	T	C	17: 33,652,443 (GRCm39)	S168P	probably damaging	Het
Adam15	A	G	3: 89,253,113 (GRCm39)	L237P	probably damaging	Het
Ahctf1	T	C	1: 179,617,879 (GRCm39)	Q289R	possibly damaging	Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Asah1	C	T	8: 41,794,664 (GRCm39)	R385Q	probably damaging	Het
Bicc1	T	C	10: 70,782,420 (GRCm39)	T607A	probably benign	Het
Ccdc88a	T	C	11: 29,448,614 (GRCm39)		probably null	Het
Cdhr4	A	T	9: 107,875,971 (GRCm39)	R750*	probably null	Het
Cep290	T	A	10: 100,390,398 (GRCm39)		probably null	Het
Clca3a1	T	A	3: 144,442,797 (GRCm39)	D749V	probably benign	Het
Clcn1	C	T	6: 42,286,997 (GRCm39)	P685S	possibly damaging	Het
Clk1	A	G	1: 58,460,319 (GRCm39)	S104P	probably damaging	Het
Commd10	T	C	18: 47,219,323 (GRCm39)	V172A	probably benign	Het
Cyp2c69	A	T	19: 39,865,953 (GRCm39)	C213*	probably null	Het
Dnah14	A	T	1: 181,579,720 (GRCm39)		probably null	Het
Dock2	C	T	11: 34,611,854 (GRCm39)	G170R	probably damaging	Het
Fam186a	T	G	15: 99,842,950 (GRCm39)	H1098P	probably benign	Het
Flt1	T	C	5: 147,591,930 (GRCm39)	T511A	probably benign	Het
Fmo1	A	C	1: 162,663,866 (GRCm39)	I221S	possibly damaging	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
Ginm1	A	T	10: 7,651,126 (GRCm39)	S93R	possibly damaging	Het
Gm3629	A	C	14: 17,875,685 (GRCm39)		probably null	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gys2	C	T	6: 142,405,211 (GRCm39)	R192H	probably damaging	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Hectd4	C	A	5: 121,462,094 (GRCm39)	A987E	probably benign	Het
Herc2	G	A	7: 55,786,433 (GRCm39)	V1593I	probably benign	Het
Ighv14-3	T	C	12: 114,023,554 (GRCm39)	T88A	probably benign	Het
Jag2	T	C	12: 112,877,286 (GRCm39)	D695G	probably damaging	Het
Kazn	A	T	4: 141,832,209 (GRCm39)	D663E		Het
Krt79	T	C	15: 101,840,278 (GRCm39)	D306G	probably damaging	Het
Lama1	T	A	17: 68,087,875 (GRCm39)	C1498S		Het
Ldb1	T	C	19: 46,023,963 (GRCm39)	Y141C	probably damaging	Het
Lmnb2	T	A	10: 80,740,573 (GRCm39)	E336V	probably damaging	Het
Lrp1b	T	A	2: 42,543,047 (GRCm39)		probably benign	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Mycbp2	T	A	14: 103,429,045 (GRCm39)	Y2377F	probably damaging	Het
Neb	T	A	2: 52,120,059 (GRCm39)	Y721F		Het
Ntf3	A	G	6: 126,078,778 (GRCm39)	S243P	probably damaging	Het
Or4c103	G	C	2: 88,513,696 (GRCm39)	P127A	probably damaging	Het
Or52s1	T	C	7: 102,861,652 (GRCm39)	M195T	possibly damaging	Het
Or5b121	G	T	19: 13,507,809 (GRCm39)	M301I	probably damaging	Het
Pdk1	G	A	2: 71,705,742 (GRCm39)		probably null	Het
Pdzd2	A	G	15: 12,373,289 (GRCm39)	V2282A	probably damaging	Het
Piwil1	T	C	5: 128,824,497 (GRCm39)	F517L	probably benign	Het
Plch2	T	A	4: 155,075,619 (GRCm39)	T738S	probably damaging	Het
Plekhm3	G	A	1: 64,922,367 (GRCm39)	R603W	probably damaging	Het
Pltp	A	T	2: 164,698,926 (GRCm39)		probably null	Het
Prdm4	A	G	10: 85,735,145 (GRCm39)	S666P	probably damaging	Het
Psmb3	G	T	11: 97,603,318 (GRCm39)	R177L	probably damaging	Het
Ralgapa2	A	G	2: 146,260,335 (GRCm39)	V764A	probably benign	Het
Rel	T	C	11: 23,692,713 (GRCm39)	D440G	probably benign	Het
Rimoc1	T	C	15: 4,018,165 (GRCm39)	Y170C	probably damaging	Het
Rims2	T	A	15: 39,370,422 (GRCm39)	V952E	probably damaging	Het
Samd4b	G	T	7: 28,122,925 (GRCm39)	C44*	probably null	Het
Slamf8	C	A	1: 172,415,605 (GRCm39)	V78F	possibly damaging	Het
Slc35a1	A	T	4: 34,675,493 (GRCm39)	N111K	possibly damaging	Het
Slc7a5	A	T	8: 122,614,274 (GRCm39)	Y264*	probably null	Het
Srsf2	T	C	11: 116,743,120 (GRCm39)	S134G	unknown	Het
Stag1	T	A	9: 100,620,191 (GRCm39)	M98K	probably damaging	Het
Trib1	T	C	15: 59,523,562 (GRCm39)	S199P	probably damaging	Het
Vmn1r194	C	T	13: 22,428,911 (GRCm39)	T176I	not run	Het
Vmn1r222	A	G	13: 23,416,601 (GRCm39)	L204P	possibly damaging	Het
Vmn2r63	T	A	7: 42,576,466 (GRCm39)	H449L	probably benign	Het
Vmn2r83	T	A	10: 79,314,956 (GRCm39)	N401K	probably damaging	Het
Vmn2r87	T	A	10: 130,308,054 (GRCm39)	H728L	probably damaging	Het
Zfp69	G	A	4: 120,792,323 (GRCm39)	A151V	probably benign	Het
Zfp738	A	G	13: 67,831,520 (GRCm39)		probably null	Het
Zfp974	T	C	7: 27,611,110 (GRCm39)	E205G	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
R7488:Txnip	UTSW	3	96,467,539 (GRCm39)	missense	probably benign	0.05
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'- CCATGCTGACTTTGAGAACACG -3'
(R):5'- ACCTGCTGCCAATCACTAG -3'

Sequencing Primer
(F):5'- AACACGTGTTCCCGAATCGTG -3'
(R):5'- TGCCAATCACTAGGGGCAGATC -3'

Posted On

2019-11-12