Mutagenetix > Incidental Mutation

Incidental Mutation 'R5020:Txndc9'

389109

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

042611-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.572) question?

Stock #

R5020 (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 38034793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 37 (D37G)

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 benign
Transcript: ENSMUST00000162031
AA Change: D37G

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125491
Gene: ENSMUSG00000058407
AA Change: D37G

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
AA Change: D37G

PolyPhen 2 Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000141640
Gene: ENSMUSG00000058407
AA Change: D37G

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 benign
Transcript: ENSMUST00000192960
AA Change: D37G

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000141281
Gene: ENSMUSG00000058407
AA Change: D37G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000193832
AA Change: D37G

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000142188
Gene: ENSMUSG00000058407
AA Change: D37G

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 benign
Transcript: ENSMUST00000195032
AA Change: D37G

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000141595
Gene: ENSMUSG00000058407
AA Change: D37G

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: D37G

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000141609
Gene: ENSMUSG00000058407
AA Change: D37G

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

0.1559

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

99% (72/73)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadsb	A	T	7: 131,042,929 (GRCm39)		probably null	Het
Actl6a	A	G	3: 32,774,656 (GRCm39)	I340V	possibly damaging	Het
Alppl2	C	T	1: 87,017,431 (GRCm39)	V19I	probably benign	Het
Ankrd34c	T	C	9: 89,611,759 (GRCm39)	K194R	probably benign	Het
Anpep	T	A	7: 79,483,475 (GRCm39)	M672L	probably benign	Het
Arhgap31	T	C	16: 38,423,438 (GRCm39)	D876G	probably damaging	Het
Arid2	T	A	15: 96,269,869 (GRCm39)	N1327K	probably damaging	Het
Atp5f1d	C	A	10: 79,981,263 (GRCm39)	P101Q	probably benign	Het
Bcl7b	G	A	5: 135,200,017 (GRCm39)		probably null	Het
Brca2	A	T	5: 150,483,901 (GRCm39)	S2907C	probably damaging	Het
Ccser2	T	C	14: 36,662,134 (GRCm39)	E350G	probably benign	Het
Cdh23	G	T	10: 60,143,811 (GRCm39)	D2929E	probably damaging	Het
Clec2i	T	A	6: 128,870,621 (GRCm39)	V78E	probably benign	Het
Cpxm1	A	T	2: 130,237,897 (GRCm39)		probably null	Het
Crybg3	C	T	16: 59,375,159 (GRCm39)	V2032I	possibly damaging	Het
Eif5b	A	T	1: 38,058,150 (GRCm39)	K151*	probably null	Het
Gemin7	T	A	7: 19,299,348 (GRCm39)	E82D	possibly damaging	Het
Gm14496	A	G	2: 181,633,152 (GRCm39)	E45G	possibly damaging	Het
Gm21915	T	C	9: 40,581,966 (GRCm39)	S20P	probably damaging	Het
Gm8126	A	C	14: 43,119,026 (GRCm39)	E165A	probably damaging	Het
Grin2b	T	C	6: 135,710,405 (GRCm39)	D1047G	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Ikbke	T	A	1: 131,201,397 (GRCm39)	Y150F	probably damaging	Het
Inhca	T	C	9: 103,159,701 (GRCm39)	D70G	probably benign	Het
Itih5	T	A	2: 10,245,315 (GRCm39)		probably null	Het
Lrig2	T	C	3: 104,365,217 (GRCm39)	Q645R	possibly damaging	Het
Map4	A	G	9: 109,897,868 (GRCm39)	M712V	probably benign	Het
Mecom	A	G	3: 30,015,255 (GRCm39)	S823P	probably damaging	Het
Mettl25	A	G	10: 105,662,068 (GRCm39)	Y301H	possibly damaging	Het
Mga	A	T	2: 119,781,654 (GRCm39)	K2136*	probably null	Het
Mmp24	A	G	2: 155,652,204 (GRCm39)	E304G	probably benign	Het
Mmp3	T	A	9: 7,445,984 (GRCm39)	D29E	probably benign	Het
Nbas	T	A	12: 13,424,713 (GRCm39)	I984N	probably damaging	Het
Nedd9	A	G	13: 41,469,270 (GRCm39)	Y628H	probably damaging	Het
Nlrp2	C	T	7: 5,331,076 (GRCm39)	C440Y	probably damaging	Het
Or4g16	T	C	2: 111,136,637 (GRCm39)	V29A	probably benign	Het
Or6p1	T	G	1: 174,258,237 (GRCm39)	L81R	probably damaging	Het
P4ha2	T	C	11: 54,022,016 (GRCm39)	V513A	probably damaging	Het
Pcsk4	T	C	10: 80,161,869 (GRCm39)	N124S	probably benign	Het
Phf12	T	C	11: 77,914,622 (GRCm39)	F139S	probably damaging	Het
Phlpp2	T	A	8: 110,666,714 (GRCm39)	L1081H	probably damaging	Het
Phospho2	T	A	2: 69,626,323 (GRCm39)	F160I	probably damaging	Het
Plch2	T	G	4: 155,091,540 (GRCm39)	D115A	probably damaging	Het
Plekho1	A	G	3: 95,896,851 (GRCm39)	F215S	probably damaging	Het
Psma4	C	A	9: 54,860,056 (GRCm39)	A47E	probably damaging	Het
Rasa4	A	C	5: 136,130,153 (GRCm39)	Q303P	probably damaging	Het
Rbmxl2	C	T	7: 106,809,414 (GRCm39)	P233L	probably damaging	Het
Reln	A	T	5: 22,239,636 (GRCm39)	L877H	probably damaging	Het
Rtel1	A	G	2: 180,964,307 (GRCm39)		probably null	Het
Septin12	T	C	16: 4,811,620 (GRCm39)	D116G	probably damaging	Het
Son	T	A	16: 91,453,263 (GRCm39)	V670E	probably damaging	Het
Spag9	T	A	11: 93,988,612 (GRCm39)	I544N	probably benign	Het
Spsb3	T	G	17: 25,106,036 (GRCm39)		probably benign	Het
Tcstv2c	T	C	13: 120,616,652 (GRCm39)	F164L	possibly damaging	Het
Tgfbr3	T	C	5: 107,362,836 (GRCm39)	T59A	probably damaging	Het
Tsc1	T	A	2: 28,566,531 (GRCm39)	I649K	probably damaging	Het
Uba7	C	T	9: 107,856,113 (GRCm39)	A496V	probably benign	Het
Usf3	T	A	16: 44,035,889 (GRCm39)	I123N	probably damaging	Het
Vmn1r184	T	A	7: 25,966,955 (GRCm39)	S234T	possibly damaging	Het
Vsig10l	C	A	7: 43,114,741 (GRCm39)	S314*	probably null	Het
Wdfy4	A	G	14: 32,801,892 (GRCm39)	F1922S	probably damaging	Het
Zfp219	C	T	14: 52,247,112 (GRCm39)	R5H	probably damaging	Het
Zfp946	G	T	17: 22,674,584 (GRCm39)	C446F	probably benign	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
R4742:Txndc9	UTSW	1	38,026,765 (GRCm39)	missense	possibly damaging	0.90
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'- AACATCCTGCAAGTGAGGAG -3'
(R):5'- TAGTCGTAGAAGCGATGGGC -3'

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

Posted On

2016-06-06