Mutagenetix > Incidental Mutation

Incidental Mutation 'R4489:Txndc9'

330613

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

041745-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.490) question?

Stock #

R4489 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38024270-38036974 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 38034871 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 11 (S11*)

Ref Sequence

ENSEMBL: ENSMUSP00000141609 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027252] [ENSMUST00000162031] [ENSMUST00000192237] [ENSMUST00000192960] [ENSMUST00000193832] [ENSMUST00000195032] [ENSMUST00000195247]

AlphaFold

Q9CQ79

Predicted Effect

probably benign
Transcript: ENSMUST00000027252

SMART Domains

Protein: ENSMUSP00000027252
Gene: ENSMUSG00000026083

Domain	Start	End	E-Value	Type
low complexity region	19	32	N/A	INTRINSIC
low complexity region	33	51	N/A	INTRINSIC
low complexity region	94	106	N/A	INTRINSIC
low complexity region	110	126	N/A	INTRINSIC
low complexity region	145	161	N/A	INTRINSIC
low complexity region	183	193	N/A	INTRINSIC
coiled coil region	227	272	N/A	INTRINSIC
coiled coil region	301	414	N/A	INTRINSIC
low complexity region	480	498	N/A	INTRINSIC
coiled coil region	523	554	N/A	INTRINSIC
low complexity region	580	594	N/A	INTRINSIC
Pfam:GTP_EFTU	625	840	4.7e-35	PFAM
Pfam:MMR_HSR1	629	753	5.1e-6	PFAM
Pfam:GTP_EFTU_D2	866	944	7.1e-11	PFAM
Pfam:IF-2	959	1066	1.4e-20	PFAM
Blast:S1	1116	1172	2e-6	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000162031
AA Change: S11*

SMART Domains

Protein: ENSMUSP00000125491
Gene: ENSMUSG00000058407
AA Change: S11*

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 null
Transcript: ENSMUST00000192237
AA Change: S11*

SMART Domains

Protein: ENSMUSP00000141640
Gene: ENSMUSG00000058407
AA Change: S11*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192548

Predicted Effect

probably null
Transcript: ENSMUST00000192960
AA Change: S11*

SMART Domains

Protein: ENSMUSP00000141281
Gene: ENSMUSG00000058407
AA Change: S11*

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

Predicted Effect

probably null
Transcript: ENSMUST00000193832
AA Change: S11*

SMART Domains

Protein: ENSMUSP00000142188
Gene: ENSMUSG00000058407
AA Change: S11*

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: ENSMUST00000194692

Predicted Effect

probably null
Transcript: ENSMUST00000195032
AA Change: S11*

SMART Domains

Protein: ENSMUSP00000141595
Gene: ENSMUSG00000058407
AA Change: S11*

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 null
Transcript: ENSMUST00000195247
AA Change: S11*

SMART Domains

Protein: ENSMUSP00000141609
Gene: ENSMUSG00000058407
AA Change: S11*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194747

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

94% (50/53)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	G	15: 91,062,486 (GRCm39)	V484A	probably damaging	Het
Ank3	C	T	10: 69,734,086 (GRCm39)	A754V	probably damaging	Het
Ano1	T	C	7: 144,165,479 (GRCm39)	N582S	probably benign	Het
Arnt2	T	A	7: 83,924,553 (GRCm39)	T425S	probably benign	Het
Bltp1	A	T	3: 37,058,082 (GRCm39)	Q3224L	probably null	Het
Cand2	A	G	6: 115,766,427 (GRCm39)	D344G	probably damaging	Het
Clta	T	G	4: 44,032,417 (GRCm39)	F198V	probably damaging	Het
Cnga2	T	A	X: 71,049,733 (GRCm39)	F133I	possibly damaging	Het
Csmd2	G	A	4: 128,275,738 (GRCm39)	V826M	possibly damaging	Het
Dnah11	C	T	12: 117,880,631 (GRCm39)	V3830I	probably benign	Het
Fhl4	T	C	10: 84,934,319 (GRCm39)	D154G	possibly damaging	Het
Gbp4	T	A	5: 105,269,773 (GRCm39)	T352S	probably damaging	Het
Gigyf2	A	G	1: 87,368,548 (GRCm39)	D1076G	probably damaging	Het
Gm21370	T	A	13: 120,488,378 (GRCm39)	Y57F	probably benign	Het
Gm6489	A	G	1: 31,326,320 (GRCm39)		noncoding transcript	Het
Grm6	T	C	11: 50,750,816 (GRCm39)	S660P	probably damaging	Het
Hectd4	T	G	5: 121,424,320 (GRCm39)	I660R	possibly damaging	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Htr1b	A	T	9: 81,513,592 (GRCm39)	D338E	probably benign	Het
Kifbp	A	G	10: 62,398,806 (GRCm39)		probably benign	Het
Lrp1b	T	C	2: 40,551,501 (GRCm39)		probably benign	Het
Lzts1	T	A	8: 69,588,347 (GRCm39)	K536N	possibly damaging	Het
Mrpl22	T	A	11: 58,063,928 (GRCm39)	N49K	probably benign	Het
Mzt1	T	C	14: 99,273,926 (GRCm39)	*42W	probably null	Het
Nkx3-2	T	G	5: 41,919,304 (GRCm39)	Q228P	probably damaging	Het
Nufip2	T	G	11: 77,577,055 (GRCm39)	M1R	probably null	Het
Obscn	G	A	11: 58,922,417 (GRCm39)	T5921M	possibly damaging	Het
Or4c116	T	C	2: 88,941,916 (GRCm39)		probably null	Het
Or52e7	T	C	7: 104,684,510 (GRCm39)	F35S	probably benign	Het
Pcdha11	C	A	18: 37,139,969 (GRCm39)	Q533K	possibly damaging	Het
Pgm5	T	C	19: 24,793,809 (GRCm39)	E285G	probably benign	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Potefam1	A	G	2: 111,051,047 (GRCm39)	Y250H	probably benign	Het
Rgs21	T	C	1: 144,395,613 (GRCm39)	T92A	possibly damaging	Het
Rgsl1	T	A	1: 153,703,282 (GRCm39)	Y123F	probably benign	Het
Rnf13	A	C	3: 57,728,010 (GRCm39)	K230T	probably damaging	Het
Sgf29	T	C	7: 126,263,110 (GRCm39)	S29P	possibly damaging	Het
Smchd1	T	C	17: 71,714,230 (GRCm39)	T878A	probably benign	Het
Specc1	T	G	11: 62,042,653 (GRCm39)		probably null	Het
Tg	A	T	15: 66,579,791 (GRCm39)	Q1532L	probably damaging	Het
Timm44	A	C	8: 4,316,654 (GRCm39)	S297A	possibly damaging	Het
Uggt1	C	T	1: 36,185,749 (GRCm39)	W1478*	probably null	Het
Washc3	T	C	10: 88,051,893 (GRCm39)	V87A	probably benign	Het
Xlr5b	T	C	X: 72,201,504 (GRCm39)		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
R4742:Txndc9	UTSW	1	38,026,765 (GRCm39)	missense	possibly damaging	0.90
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'- CAGTGATTCAGTGAGCAGGC -3'
(R):5'- TCACCTGGACTTGTAACGTTTATG -3'

Sequencing Primer
(F):5'- TCTTTGAGCAGCTCCAGT -3'
(R):5'- ACATGCTGAGTTCTAAGGCC -3'

Posted On

2015-07-21