Mutagenetix > Incidental Mutation

Incidental Mutation 'R9403:Txndc9'

711325

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

Accession Numbers

Essential gene?

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

Stock #

R9403 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38024270-38036974 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38034859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 15 (E15G)

Ref Sequence

ENSEMBL: ENSMUSP00000125491 (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: E15G

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000125491
Gene: ENSMUSG00000058407
AA Change: E15G

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: E15G

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000141640
Gene: ENSMUSG00000058407
AA Change: E15G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000192960
AA Change: E15G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141281
Gene: ENSMUSG00000058407
AA Change: E15G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000193832
AA Change: E15G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142188
Gene: ENSMUSG00000058407
AA Change: E15G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000195032
AA Change: E15G

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000141595
Gene: ENSMUSG00000058407
AA Change: E15G

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: E15G

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000141609
Gene: ENSMUSG00000058407
AA Change: E15G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angpt4	C	T	2: 151,780,892 (GRCm39)	T380M	probably damaging	Het
Apoa5	G	C	9: 46,181,944 (GRCm39)	R340P	probably damaging	Het
Cyp3a41a	T	A	5: 145,639,008 (GRCm39)	Y320F	probably damaging	Het
Dmtf1	A	G	5: 9,171,927 (GRCm39)	L503S	possibly damaging	Het
Dock1	T	C	7: 134,770,125 (GRCm39)	V1795A	probably benign	Het
Dpys	C	G	15: 39,691,467 (GRCm39)	W285S	probably damaging	Het
Fam187b	T	C	7: 30,676,515 (GRCm39)	V8A		Het
Fbn2	T	C	18: 58,199,179 (GRCm39)	E1363G	probably damaging	Het
Glg1	C	T	8: 111,914,425 (GRCm39)	R453Q	probably benign	Het
Gm5591	T	A	7: 38,219,572 (GRCm39)	M434L	probably benign	Het
Gm5591	T	C	7: 38,221,680 (GRCm39)	T130A	probably damaging	Het
Gpld1	G	A	13: 25,163,712 (GRCm39)	V502I	probably benign	Het
Inhba	A	G	13: 16,191,966 (GRCm39)	H29R	probably benign	Het
Itga4	T	A	2: 79,156,004 (GRCm39)	I990N	possibly damaging	Het
Kcnma1	T	A	14: 23,593,145 (GRCm39)	I280L	probably benign	Het
Malrd1	T	C	2: 15,618,988 (GRCm39)	V284A		Het
Maml2	C	T	9: 13,532,969 (GRCm39)	Q728*	probably null	Het
Mkln1	T	C	6: 31,409,905 (GRCm39)	L181P	probably damaging	Het
Mms22l	T	C	4: 24,580,204 (GRCm39)		probably null	Het
Muc16	A	G	9: 18,449,060 (GRCm39)		probably null	Het
Mylk	C	A	16: 34,696,012 (GRCm39)	S249*	probably null	Het
Naa35	G	A	13: 59,748,817 (GRCm39)	A150T	possibly damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nup205	G	A	6: 35,176,909 (GRCm39)	R635H	probably benign	Het
Nup50l	T	G	6: 96,142,280 (GRCm39)	T255P	probably benign	Het
Or2w1	T	C	13: 21,317,865 (GRCm39)	F307L	probably benign	Het
Or4l1	T	C	14: 50,166,906 (GRCm39)	T32A	probably benign	Het
Padi3	T	C	4: 140,537,843 (GRCm39)	I26V	probably benign	Het
Polq	T	C	16: 36,882,215 (GRCm39)	S1460P	probably benign	Het
Ptgdr	A	G	14: 45,090,715 (GRCm39)	S348P		Het
Qsox1	A	G	1: 155,658,343 (GRCm39)	S409P	probably damaging	Het
Rergl	T	A	6: 139,471,852 (GRCm39)	Y99F	possibly damaging	Het
Rptn	C	A	3: 93,302,349 (GRCm39)	H22N	probably benign	Het
Semp2l2b	C	T	10: 21,943,840 (GRCm39)	D47N	possibly damaging	Het
Sh2b1	ACCAGCTCAGCCACGGGG	ACCAGCTCAGCCACGGGGCCCAGCTCAGCCACGGGG	7: 126,066,747 (GRCm39)		probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	GGACCAGCTCAG	GGACCAGCTCAGTCACGGTGACCAGCTCAG	7: 126,066,745 (GRCm39)		probably null	Het
Slc2a3	A	C	6: 122,713,569 (GRCm39)	I214M	probably damaging	Het
Slc5a7	A	T	17: 54,583,669 (GRCm39)	N540K	probably benign	Het
Slco6c1	A	T	1: 96,990,248 (GRCm39)	S664R	possibly damaging	Het
Tgm4	C	A	9: 122,881,837 (GRCm39)	S344R	probably damaging	Het
Trim61	T	A	8: 65,467,228 (GRCm39)	Q11L	probably damaging	Het
Trpm6	C	A	19: 18,810,016 (GRCm39)	D1137E	possibly damaging	Het
Txndc2	G	A	17: 65,944,992 (GRCm39)	T395I	probably damaging	Het
Vcpip1	A	G	1: 9,816,049 (GRCm39)	I778T	possibly damaging	Het
Zfp383	T	C	7: 29,614,684 (GRCm39)	F313S	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CTCCAGTGATTCAGTGAGCAGG -3'
(R):5'- CTGGACTTGTAACGTTTATGTCAGG -3'

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

Posted On

2022-05-16