Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02707:Txndc16'

304379

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Txndc16

Ensembl Gene

ENSMUSG00000021830

Gene Name

thioredoxin domain containing 16

Synonyms

5730420B22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

IGL02707

Quality Score

Status

Chromosome

Chromosomal Location

45371905-45457008 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45399730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 408 (T408A)

Ref Sequence

ENSEMBL: ENSMUSP00000120287 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022377] [ENSMUST00000123879] [ENSMUST00000139526]

AlphaFold

Q7TN22

Predicted Effect

probably benign
Transcript: ENSMUST00000022377
AA Change: T408A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022377
Gene: ENSMUSG00000021830
AA Change: T408A

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
low complexity region	298	308	N/A	INTRINSIC
low complexity region	354	367	N/A	INTRINSIC
Pfam:Thioredoxin	394	496	1.9e-12	PFAM
Pfam:Thioredoxin_6	534	723	2.3e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123879
AA Change: T408A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000123023
Gene: ENSMUSG00000021830
AA Change: T408A

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
low complexity region	298	308	N/A	INTRINSIC
low complexity region	354	367	N/A	INTRINSIC
Pfam:Thioredoxin	394	496	1.9e-12	PFAM
Pfam:Thioredoxin_6	534	723	2.3e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139526
AA Change: T408A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120287
Gene: ENSMUSG00000021830
AA Change: T408A

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
low complexity region	298	308	N/A	INTRINSIC
low complexity region	354	367	N/A	INTRINSIC
Pfam:Thioredoxin	394	496	1e-12	PFAM
Pfam:Thioredoxin_6	534	723	7.3e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156600

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,165,928 (GRCm39)	T149A	probably benign	Het
4932414N04Rik	A	C	2: 68,561,474 (GRCm39)	Q267P	possibly damaging	Het
Actr5	T	C	2: 158,478,617 (GRCm39)	V489A	probably benign	Het
Adam26b	T	C	8: 43,972,895 (GRCm39)		probably benign	Het
Aff4	A	G	11: 53,290,567 (GRCm39)	N509S	probably benign	Het
Arhgap22	C	T	14: 33,085,229 (GRCm39)		probably benign	Het
Arhgap9	C	A	10: 127,165,476 (GRCm39)	H628Q	probably damaging	Het
Asap1	A	T	15: 64,001,123 (GRCm39)	I486N	probably damaging	Het
Asb15	A	T	6: 24,558,787 (GRCm39)		probably benign	Het
Avil	A	G	10: 126,842,431 (GRCm39)	D70G	probably damaging	Het
Cct6b	T	C	11: 82,645,780 (GRCm39)		probably benign	Het
Cep63	A	T	9: 102,464,180 (GRCm39)	I717K	probably damaging	Het
Chd4	G	T	6: 125,085,730 (GRCm39)	A875S	probably damaging	Het
Col4a4	A	T	1: 82,471,237 (GRCm39)	M706K	unknown	Het
Cr1l	T	C	1: 194,806,019 (GRCm39)	T155A	probably benign	Het
Ctnna3	A	G	10: 63,339,844 (GRCm39)	N10S	probably benign	Het
Cubn	A	G	2: 13,450,843 (GRCm39)	V854A	probably damaging	Het
Dgkh	T	C	14: 78,823,091 (GRCm39)	T845A	possibly damaging	Het
F10	G	A	8: 13,098,252 (GRCm39)	A152T	probably damaging	Het
Gabrg3	C	A	7: 56,632,439 (GRCm39)	E170*	probably null	Het
Heatr5a	A	G	12: 51,968,149 (GRCm39)	V829A	probably benign	Het
Htt	T	A	5: 34,987,225 (GRCm39)		probably null	Het
Icam4	T	C	9: 20,941,770 (GRCm39)	Y257H	possibly damaging	Het
Jph1	A	G	1: 17,074,675 (GRCm39)	S448P	probably benign	Het
Kansl1l	G	A	1: 66,812,604 (GRCm39)	L125F	probably damaging	Het
Kifc1	A	T	17: 34,100,467 (GRCm39)	C46*	probably null	Het
Lce3b	A	G	3: 92,841,193 (GRCm39)	D96G	unknown	Het
Mab21l1	A	T	3: 55,690,505 (GRCm39)	I31F	possibly damaging	Het
Mctp2	A	G	7: 71,909,089 (GRCm39)	Y75H	possibly damaging	Het
Mesp2	A	G	7: 79,461,274 (GRCm39)	I200V	probably benign	Het
Msr1	T	C	8: 40,085,870 (GRCm39)		probably benign	Het
Mtfr2	C	T	10: 20,224,084 (GRCm39)	T6I	probably benign	Het
Myo5b	T	C	18: 74,828,438 (GRCm39)		probably benign	Het
Myoc	T	A	1: 162,467,029 (GRCm39)	I66N	probably benign	Het
Or10d1b	T	C	9: 39,613,937 (GRCm39)	I43V	probably damaging	Het
Or4a70	A	T	2: 89,324,171 (GRCm39)	Y162N	probably damaging	Het
Or51k1	A	C	7: 103,661,609 (GRCm39)	L100W	probably damaging	Het
Or52n20	T	C	7: 104,320,136 (GRCm39)	C76R	probably damaging	Het
Or52n2b	A	G	7: 104,565,859 (GRCm39)	C215R	probably damaging	Het
Or7a39	T	C	10: 78,715,759 (GRCm39)	L251S	probably damaging	Het
Per2	T	C	1: 91,378,450 (GRCm39)	D33G	possibly damaging	Het
Pknox1	A	G	17: 31,821,793 (GRCm39)	I295V	possibly damaging	Het
Rgs11	G	A	17: 26,426,605 (GRCm39)	V279I	probably benign	Het
Rhot2	A	G	17: 26,063,270 (GRCm39)	S19P	probably damaging	Het
Rps6kb1	C	A	11: 86,426,236 (GRCm39)		probably null	Het
Serpinb1b	C	T	13: 33,275,648 (GRCm39)	T194I	probably benign	Het
Smarcad1	T	A	6: 65,029,790 (GRCm39)		probably benign	Het
Stxbp4	A	G	11: 90,428,759 (GRCm39)	S449P	probably benign	Het
Thrb	A	C	14: 18,026,721 (GRCm38)	I275L	probably benign	Het
Tjp1	T	A	7: 64,979,431 (GRCm39)	K365*	probably null	Het
Tjp1	T	A	7: 64,979,430 (GRCm39)	K365I	possibly damaging	Het
Tm4sf4	C	A	3: 57,333,939 (GRCm39)	C75*	probably null	Het
Tmem131	T	C	1: 36,864,560 (GRCm39)	T558A	probably benign	Het
Ube2j1	T	C	4: 33,038,206 (GRCm39)	L38P	possibly damaging	Het
Urb2	T	C	8: 124,757,425 (GRCm39)	I1044T	probably benign	Het

Other mutations in Txndc16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Txndc16	APN	14	45,399,807 (GRCm39)	missense	probably damaging	0.99
IGL00427:Txndc16	APN	14	45,382,547 (GRCm39)	splice site	probably benign
IGL02554:Txndc16	APN	14	45,409,995 (GRCm39)	missense	probably damaging	1.00
IGL02666:Txndc16	APN	14	45,448,607 (GRCm39)	splice site	probably benign
IGL03198:Txndc16	APN	14	45,388,941 (GRCm39)	splice site	probably benign
IGL03256:Txndc16	APN	14	45,389,353 (GRCm39)	missense	probably damaging	1.00
R0647:Txndc16	UTSW	14	45,402,818 (GRCm39)	nonsense	probably null
R0647:Txndc16	UTSW	14	45,406,732 (GRCm39)	missense	probably damaging	1.00
R0838:Txndc16	UTSW	14	45,402,876 (GRCm39)	splice site	probably benign
R1035:Txndc16	UTSW	14	45,410,020 (GRCm39)	missense	possibly damaging	0.92
R1116:Txndc16	UTSW	14	45,400,442 (GRCm39)	missense	probably benign	0.06
R1511:Txndc16	UTSW	14	45,389,344 (GRCm39)	missense	probably damaging	0.97
R2114:Txndc16	UTSW	14	45,382,484 (GRCm39)	missense	probably benign	0.00
R2139:Txndc16	UTSW	14	45,410,046 (GRCm39)	missense	probably damaging	1.00
R3784:Txndc16	UTSW	14	45,403,343 (GRCm39)	missense	probably damaging	1.00
R3801:Txndc16	UTSW	14	45,388,809 (GRCm39)	missense	possibly damaging	0.85
R5215:Txndc16	UTSW	14	45,448,597 (GRCm39)	intron	probably benign
R5620:Txndc16	UTSW	14	45,373,335 (GRCm39)	missense	possibly damaging	0.86
R5726:Txndc16	UTSW	14	45,403,221 (GRCm39)	missense	probably benign	0.38
R6297:Txndc16	UTSW	14	45,389,243 (GRCm39)	missense	probably benign	0.10
R6603:Txndc16	UTSW	14	45,389,224 (GRCm39)	missense	probably damaging	0.99
R6626:Txndc16	UTSW	14	45,398,792 (GRCm39)	splice site	probably null
R6876:Txndc16	UTSW	14	45,400,497 (GRCm39)	missense	possibly damaging	0.55
R7102:Txndc16	UTSW	14	45,442,839 (GRCm39)	missense	probably benign	0.00
R7166:Txndc16	UTSW	14	45,420,611 (GRCm39)	missense	probably benign	0.22
R7465:Txndc16	UTSW	14	45,402,845 (GRCm39)	missense	probably damaging	0.97
R7670:Txndc16	UTSW	14	45,373,324 (GRCm39)	nonsense	probably null
R7684:Txndc16	UTSW	14	45,385,325 (GRCm39)	missense	possibly damaging	0.83
R7783:Txndc16	UTSW	14	45,382,417 (GRCm39)	missense	probably benign	0.02
R8316:Txndc16	UTSW	14	45,448,641 (GRCm39)	missense	probably damaging	1.00
R8838:Txndc16	UTSW	14	45,378,028 (GRCm39)	missense	probably damaging	1.00
R8926:Txndc16	UTSW	14	45,406,771 (GRCm39)	missense	possibly damaging	0.93
R9169:Txndc16	UTSW	14	45,373,385 (GRCm39)	missense	probably damaging	1.00
R9327:Txndc16	UTSW	14	45,379,448 (GRCm39)	missense	probably benign	0.00
R9489:Txndc16	UTSW	14	45,442,799 (GRCm39)	missense	probably damaging	1.00
R9500:Txndc16	UTSW	14	45,406,798 (GRCm39)	missense	probably null	0.00
R9605:Txndc16	UTSW	14	45,442,799 (GRCm39)	missense	probably damaging	1.00
R9632:Txndc16	UTSW	14	45,400,467 (GRCm39)	missense	probably benign	0.00
R9710:Txndc16	UTSW	14	45,400,467 (GRCm39)	missense	probably benign	0.00
RF013:Txndc16	UTSW	14	45,406,795 (GRCm39)	missense	probably benign	0.11

Posted On

2015-04-16