Mutagenetix > Incidental Mutation

Incidental Mutation 'R0691:Txndc5'

226047

Institutional Source

Beutler Lab

Gene Symbol

Txndc5

Ensembl Gene

ENSMUSG00000038991

Gene Name

thioredoxin domain containing 5

Synonyms

ERp46, PC-TRP

MMRRC Submission

038876-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0691 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

38684242-38712800 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38691872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 165 (K165E)

Ref Sequence

ENSEMBL: ENSMUSP00000124516 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035988] [ENSMUST00000160653] [ENSMUST00000162075]

AlphaFold

Q91W90

Predicted Effect

probably damaging
Transcript: ENSMUST00000035988
AA Change: K259E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041839
Gene: ENSMUSG00000038991
AA Change: K259E

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:Thioredoxin	49	153	5.3e-28	PFAM
low complexity region	156	172	N/A	INTRINSIC
Pfam:Thioredoxin	176	279	2.8e-30	PFAM
Pfam:Thioredoxin	308	412	6.2e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160046

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160653
AA Change: K186E

PolyPhen 2 Score 0.515 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124401
Gene: ENSMUSG00000038991
AA Change: K186E

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin	1	80	6.3e-22	PFAM
low complexity region	83	99	N/A	INTRINSIC
Pfam:Thioredoxin	103	206	4.2e-31	PFAM
Pfam:Thioredoxin	235	339	3.9e-32	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000162075
AA Change: K165E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124516
Gene: ENSMUSG00000038991
AA Change: K165E

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin	1	59	1.5e-13	PFAM
low complexity region	62	78	N/A	INTRINSIC
Pfam:Thioredoxin	82	185	5e-31	PFAM
Pfam:Thioredoxin	214	318	4.6e-32	PFAM

Meta Mutation Damage Score

0.3609

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.4%

Validation Efficiency

97% (58/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal endoplasmic reticulum (ER)-signal sequence, three catalytically active thioredoxin domains and a C-terminal ER-retention sequence. Its expression is induced by hypoxia and its role may be to protect hypoxic cells from apoptosis. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S5 gene. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,584,979 (GRCm39)	D865G	possibly damaging	Het
Acy1	A	T	9: 106,313,070 (GRCm39)		probably null	Het
Adcy4	A	T	14: 56,010,104 (GRCm39)		probably benign	Het
Anpep	T	G	7: 79,489,047 (GRCm39)	D347A	probably damaging	Het
Arhgap28	C	T	17: 68,203,159 (GRCm39)		probably null	Het
Ccdc32	A	G	2: 118,857,610 (GRCm39)		probably benign	Het
Cdc42bpa	A	G	1: 179,972,400 (GRCm39)	T1401A	possibly damaging	Het
Celsr2	A	G	3: 108,319,939 (GRCm39)	Y958H	probably damaging	Het
Cenpe	A	G	3: 134,923,066 (GRCm39)	E137G	probably damaging	Het
Chd8	T	C	14: 52,450,890 (GRCm39)	D1399G	probably damaging	Het
Cntn3	T	C	6: 102,145,908 (GRCm39)	T978A	possibly damaging	Het
Col10a1	A	G	10: 34,271,692 (GRCm39)	T555A	possibly damaging	Het
Crybg3	A	C	16: 59,385,574 (GRCm39)		probably null	Het
Cts7	A	G	13: 61,503,548 (GRCm39)	F139L	probably damaging	Het
Dera	T	C	6: 137,773,745 (GRCm39)		probably benign	Het
Dgka	A	G	10: 128,559,129 (GRCm39)		probably benign	Het
Dhrs7	T	A	12: 72,699,125 (GRCm39)	I286F	probably damaging	Het
Dtwd2	A	G	18: 49,861,424 (GRCm39)		probably benign	Het
Fermt1	A	G	2: 132,748,653 (GRCm39)	S657P	probably damaging	Het
Fhip2b	T	C	14: 70,825,727 (GRCm39)	D351G	probably damaging	Het
Flnb	T	C	14: 7,890,810 (GRCm38)	V564A	probably benign	Het
Garnl3	A	G	2: 32,975,919 (GRCm39)	F16L	probably damaging	Het
Gck	T	C	11: 5,856,691 (GRCm39)	R191G	probably damaging	Het
Gucy1b1	A	T	3: 81,952,941 (GRCm39)		probably benign	Het
Ifna2	A	C	4: 88,601,895 (GRCm39)	L41R	probably damaging	Het
Krt33a	T	G	11: 99,903,541 (GRCm39)	E197A	probably damaging	Het
Lce1e	G	A	3: 92,615,063 (GRCm39)	R95C	unknown	Het
Lct	G	T	1: 128,235,971 (GRCm39)	S345R	probably benign	Het
Lrp2	A	T	2: 69,281,724 (GRCm39)	N3882K	probably benign	Het
Mcc	G	T	18: 44,578,927 (GRCm39)	T652K	possibly damaging	Het
Mier1	A	G	4: 102,996,699 (GRCm39)	S109G	probably benign	Het
Nfat5	A	G	8: 108,082,237 (GRCm39)	N469S	probably damaging	Het
Or1e23	C	A	11: 73,407,670 (GRCm39)	M118I	possibly damaging	Het
Or6c214	G	A	10: 129,591,271 (GRCm39)	T16I	probably damaging	Het
Piwil1	G	T	5: 128,820,371 (GRCm39)	R256M	probably null	Het
Rgma	T	C	7: 73,059,160 (GRCm39)	V88A	probably damaging	Het
Sdk2	T	C	11: 113,685,746 (GRCm39)		probably null	Het
Sec22b	A	G	3: 97,819,990 (GRCm39)	E94G	probably damaging	Het
Snrnp70	T	C	7: 45,036,669 (GRCm39)	R131G	possibly damaging	Het
Spata31d1a	A	G	13: 59,848,199 (GRCm39)	S1310P	possibly damaging	Het
Spint1	A	G	2: 119,076,948 (GRCm39)	E344G	probably damaging	Het
Srrm1	G	A	4: 135,052,302 (GRCm39)	Q141*	probably null	Het
Tecta	A	T	9: 42,295,637 (GRCm39)	L286Q	probably damaging	Het
Tep1	T	A	14: 51,104,301 (GRCm39)	K198*	probably null	Het
Tk2	A	G	8: 104,957,824 (GRCm39)	V174A	probably benign	Het
Ubr4	G	A	4: 139,151,217 (GRCm39)	R1884Q	probably damaging	Het
Vmn2r61	T	C	7: 41,949,844 (GRCm39)	Y755H	probably damaging	Het
Xrn1	T	A	9: 95,855,592 (GRCm39)	H296Q	probably damaging	Het
Zar1l	A	T	5: 150,436,407 (GRCm39)	V223D	probably damaging	Het

Other mutations in Txndc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0164:Txndc5	UTSW	13	38,691,929 (GRCm39)	missense	probably damaging	1.00
R0164:Txndc5	UTSW	13	38,691,929 (GRCm39)	missense	probably damaging	1.00
R0741:Txndc5	UTSW	13	38,712,236 (GRCm39)	missense	possibly damaging	0.94
R3810:Txndc5	UTSW	13	38,707,381 (GRCm39)	missense	probably benign	0.30
R3811:Txndc5	UTSW	13	38,707,381 (GRCm39)	missense	probably benign	0.30
R3812:Txndc5	UTSW	13	38,707,381 (GRCm39)	missense	probably benign	0.30
R5009:Txndc5	UTSW	13	38,712,160 (GRCm39)	splice site	probably null
R5472:Txndc5	UTSW	13	38,697,101 (GRCm39)	missense	possibly damaging	0.65
R6089:Txndc5	UTSW	13	38,707,392 (GRCm39)	start codon destroyed	probably null	0.70
R6292:Txndc5	UTSW	13	38,712,160 (GRCm39)	splice site	probably null
R6443:Txndc5	UTSW	13	38,712,179 (GRCm39)	missense	possibly damaging	0.56
R8442:Txndc5	UTSW	13	38,711,845 (GRCm39)	intron	probably benign
X0067:Txndc5	UTSW	13	38,707,363 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAAAGGTTATCCCCACACAGCAC -3'
(R):5'- TGCAGATTGCTACCACGGTTGCTC -3'

Sequencing Primer
(F):5'- agccaggtggtggtgac -3'
(R):5'- CACGGTTGCTCTGGGATCTG -3'

Posted On

2014-09-10