Mutagenetix > Incidental Mutation

Incidental Mutation 'R4742:Txndc9'

358113

Institutional Source

Beutler Lab

Gene Symbol

Txndc9

Ensembl Gene

ENSMUSG00000058407

Gene Name

thioredoxin domain containing 9

Synonyms

Apacd, ATP binding protein associated with cell differentiation

MMRRC Submission

041966-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.572) question?

Stock #

R4742 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38024270-38036974 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38026765 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 135 (D135G)

Ref Sequence

ENSEMBL: ENSMUSP00000141281 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000162031] [ENSMUST00000192237] [ENSMUST00000192960] [ENSMUST00000193832] [ENSMUST00000195032] [ENSMUST00000195247]

AlphaFold

Q9CQ79

Predicted Effect

probably benign
Transcript: ENSMUST00000162031
AA Change: D220G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000125491
Gene: ENSMUSG00000058407
AA Change: D220G

Domain	Start	End	E-Value	Type
Pfam:Phosducin	15	180	5.1e-8	PFAM
Pfam:Thioredoxin	75	172	9.2e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000192237

SMART Domains

Protein: ENSMUSP00000141640
Gene: ENSMUSG00000058407

Domain	Start	End	E-Value	Type
low complexity region	43	63	N/A	INTRINSIC
Pfam:Thioredoxin	75	166	6.1e-10	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000192960
AA Change: D135G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141281
Gene: ENSMUSG00000058407
AA Change: D135G

Domain	Start	End	E-Value	Type
low complexity region	43	63	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193832

SMART Domains

Protein: ENSMUSP00000142188
Gene: ENSMUSG00000058407

Domain	Start	End	E-Value	Type
Pfam:Phosducin	15	180	6.1e-5	PFAM
Pfam:Thioredoxin	75	172	6.5e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194747

Predicted Effect

probably benign
Transcript: ENSMUST00000195032
AA Change: D220G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000141595
Gene: ENSMUSG00000058407
AA Change: D220G

Domain	Start	End	E-Value	Type
Pfam:Phosducin	15	180	5.1e-8	PFAM
Pfam:Thioredoxin	75	172	9.2e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195247
AA Change: D220G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000141609
Gene: ENSMUSG00000058407
AA Change: D220G

Domain	Start	End	E-Value	Type
Pfam:Phosducin	15	180	5.1e-8	PFAM
Pfam:Thioredoxin	75	172	9.2e-12	PFAM

Meta Mutation Damage Score

0.1027

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

94% (51/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the thioredoxin family. The exact function of this protein is not known but it is associated with cell differentiation. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030423J24Rik	G	T	13: 71,031,644 (GRCm39)	R17L	unknown	Het
Acan	T	C	7: 78,750,517 (GRCm39)	F1763L	probably benign	Het
Adgrb1	T	A	15: 74,401,328 (GRCm39)	L108*	probably null	Het
Anapc2	T	A	2: 25,163,555 (GRCm39)		probably null	Het
Apbb1ip	A	G	2: 22,716,928 (GRCm39)	K177E	unknown	Het
Azgp1	T	A	5: 137,987,888 (GRCm39)	Y223*	probably null	Het
Cfap44	T	G	16: 44,269,615 (GRCm39)		probably null	Het
Chfr	C	T	5: 110,291,464 (GRCm39)	T94I	probably benign	Het
Chrna10	T	G	7: 101,762,344 (GRCm39)	Q282P	probably damaging	Het
Col9a3	G	T	2: 180,245,180 (GRCm39)	G130W	unknown	Het
Dcaf1	A	G	9: 106,735,754 (GRCm39)	T901A	probably benign	Het
Dock2	T	G	11: 34,244,170 (GRCm39)		probably null	Het
Dysf	C	A	6: 84,074,697 (GRCm39)	D499E	probably damaging	Het
Fdxacb1	A	G	9: 50,679,968 (GRCm39)		probably benign	Het
Fhip1b	A	G	7: 105,033,518 (GRCm39)	V566A	probably damaging	Het
Il31ra	G	T	13: 112,660,501 (GRCm39)	S615*	probably null	Het
Itgam	C	T	7: 127,712,245 (GRCm39)	S827F	probably damaging	Het
Mapkbp1	T	A	2: 119,847,299 (GRCm39)	V512E	probably damaging	Het
Myo1c	C	T	11: 75,560,856 (GRCm39)	R770*	probably null	Het
Nab2	T	C	10: 127,498,696 (GRCm39)	T458A	probably benign	Het
Nadsyn1	A	G	7: 143,352,367 (GRCm39)		probably benign	Het
Nek10	A	G	14: 14,861,624 (GRCm38)	D560G	probably null	Het
Or2ag13	A	T	7: 106,472,635 (GRCm39)	N272K	probably damaging	Het
Or2ak6	A	G	11: 58,592,685 (GRCm39)	R53G	probably benign	Het
Or8b46	T	C	9: 38,450,952 (GRCm39)	S254P	probably damaging	Het
Pou1f1	C	A	16: 65,320,367 (GRCm39)	P19T	probably benign	Het
Prdm9	A	T	17: 15,773,783 (GRCm39)	D329E	probably damaging	Het
Prkn	T	A	17: 11,456,591 (GRCm39)		probably null	Het
Ptprm	A	C	17: 67,051,746 (GRCm39)	Y962*	probably null	Het
Rad9a	G	A	19: 4,250,560 (GRCm39)	R85C	probably damaging	Het
Rhox2c	A	C	X: 36,635,351 (GRCm39)	Q4H	probably benign	Het
Rlig1	T	C	10: 100,414,243 (GRCm39)	I139V	probably benign	Het
Rtkn2	A	G	10: 67,839,144 (GRCm39)	T154A	possibly damaging	Het
Slitrk3	T	C	3: 72,955,898 (GRCm39)	D958G	probably benign	Het
Spata31d1b	C	A	13: 59,864,426 (GRCm39)	H525N	probably damaging	Het
Tacc2	A	G	7: 130,227,697 (GRCm39)	R1461G	probably benign	Het
Tas2r105	G	A	6: 131,663,814 (GRCm39)	H205Y	probably damaging	Het
Tenm4	A	G	7: 96,446,691 (GRCm39)	N809D	probably damaging	Het
Thoc2l	A	T	5: 104,666,723 (GRCm39)	N415I	probably benign	Het
Tns1	A	G	1: 74,163,449 (GRCm39)		probably null	Het
Top1	A	G	2: 160,545,490 (GRCm39)		probably null	Het
Traf3ip2	C	T	10: 39,515,256 (GRCm39)	P345S	possibly damaging	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Usp3	A	G	9: 66,427,959 (GRCm39)	Y339H	probably damaging	Het
Vmn1r5	A	T	6: 56,963,236 (GRCm39)	K304*	probably null	Het
Vmn2r92	A	G	17: 18,387,119 (GRCm39)	T153A	probably benign	Het
Xkr5	A	T	8: 18,998,746 (GRCm39)	*55K	probably null	Het

Other mutations in Txndc9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1807:Txndc9	UTSW	1	38,033,096 (GRCm39)	missense	probably damaging	0.99
R3918:Txndc9	UTSW	1	38,033,131 (GRCm39)	nonsense	probably null
R4489:Txndc9	UTSW	1	38,034,871 (GRCm39)	nonsense	probably null
R5020:Txndc9	UTSW	1	38,034,793 (GRCm39)	missense	probably benign	0.44
R5341:Txndc9	UTSW	1	38,026,704 (GRCm39)	utr 3 prime	probably benign
R6441:Txndc9	UTSW	1	38,029,299 (GRCm39)	missense	possibly damaging	0.47
R6917:Txndc9	UTSW	1	38,034,887 (GRCm39)	missense	probably benign	0.23
R7145:Txndc9	UTSW	1	38,029,377 (GRCm39)	missense	probably damaging	0.98
R7686:Txndc9	UTSW	1	38,026,849 (GRCm39)	missense	probably benign	0.04
R9359:Txndc9	UTSW	1	38,034,859 (GRCm39)	missense	probably benign	0.13
R9403:Txndc9	UTSW	1	38,034,859 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- TCAAACAGTGTACAGGCTGG -3'
(R):5'- GGTGTCATCTCCATCACCAC -3'

Sequencing Primer
(F):5'- CTGGGATAAGAGTGTCAGATGGTC -3'
(R):5'- CTCAAACGTTGATCTAACACAGATAG -3'

Posted On

2015-11-11