Mutagenetix > Incidental Mutation

Incidental Mutation 'R1116:Txndc16'

97335

Institutional Source

Beutler Lab

Gene Symbol

Txndc16

Ensembl Gene

ENSMUSG00000021830

Gene Name

thioredoxin domain containing 16

Synonyms

5730420B22Rik

MMRRC Submission

039189-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R1116 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45133465-45220328 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45162985 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 353 (H353R)

Ref Sequence

ENSEMBL: ENSMUSP00000120287 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022377] [ENSMUST00000123879] [ENSMUST00000139526] [ENSMUST00000147853]

AlphaFold

Q7TN22

Predicted Effect

probably benign
Transcript: ENSMUST00000022377
AA Change: H353R

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000022377
Gene: ENSMUSG00000021830
AA Change: H353R

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: H353R

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000123023
Gene: ENSMUSG00000021830
AA Change: H353R

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: H353R

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000120287
Gene: ENSMUSG00000021830
AA Change: H353R

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: ENSMUST00000147853

Predicted Effect

probably benign
Transcript: ENSMUST00000156600

Meta Mutation Damage Score

0.2237

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.8%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230019H11Rik	A	T	10: 3,120,180		noncoding transcript	Het
Abi3bp	T	C	16: 56,686,429		probably benign	Het
Acacb	C	T	5: 114,210,956	P1028S	probably damaging	Het
Acad10	A	G	5: 121,630,751	F717S	probably damaging	Het
Adgrg6	A	T	10: 14,438,428	Y705N	probably benign	Het
Adm	A	G	7: 110,628,294	I6V	probably benign	Het
Agps	T	G	2: 75,861,925		probably benign	Het
Atr	C	T	9: 95,867,636	Q501*	probably null	Het
Cacna2d3	A	G	14: 29,064,321		probably benign	Het
Ccnt1	G	A	15: 98,544,338	R350W	probably damaging	Het
Cfap74	G	A	4: 155,433,996	E564K	probably benign	Het
Clip1	T	C	5: 123,579,491	E1250G	probably damaging	Het
Cryz	A	C	3: 154,621,603		probably benign	Het
Dnah1	C	A	14: 31,307,867	V494F	probably benign	Het
Dpep3	G	T	8: 105,978,829	D96E	probably damaging	Het
Dyrk3	G	A	1: 131,129,182	A418V	probably damaging	Het
Ehf	T	A	2: 103,267,009	N231I	probably damaging	Het
Eif4g3	T	C	4: 138,091,775		probably null	Het
Ergic3	G	A	2: 156,016,787	V278M	probably benign	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam178b	A	T	1: 36,578,588	C82*	probably null	Het
Gm1647	C	T	3: 69,156,872	Q31*	probably null	Het
Got1	T	A	19: 43,502,974	K346*	probably null	Het
Grid2ip	G	A	5: 143,382,914	G656D	possibly damaging	Het
Grm2	A	G	9: 106,647,927	Y530H	probably damaging	Het
Hyou1	T	C	9: 44,384,681	I381T	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
March11	T	C	15: 26,409,295	L360P	probably damaging	Het
Mettl17	T	C	14: 51,889,598	V281A	probably benign	Het
Micu2	A	T	14: 57,954,200	D131E	probably benign	Het
Mug1	G	C	6: 121,870,645	V661L	probably benign	Het
Myo18b	A	T	5: 112,803,279	D1488E	probably damaging	Het
Nkg7	G	A	7: 43,437,454	V51I	probably benign	Het
Nlgn1	A	C	3: 25,433,874	S766A	probably benign	Het
Olfr462	T	A	11: 87,889,408	M163L	probably benign	Het
Otog	T	C	7: 46,300,601		probably benign	Het
Pax2	T	C	19: 44,757,424	S11P	probably damaging	Het
Pck2	A	G	14: 55,545,366	D392G	probably benign	Het
Plxnd1	A	T	6: 115,967,005		probably null	Het
Prkdc	A	G	16: 15,783,079	D2868G	probably benign	Het
Prl3d2	T	C	13: 27,126,002	L149P	probably damaging	Het
Purg	A	T	8: 33,386,745	H137L	probably benign	Het
Slc38a8	A	T	8: 119,496,133	L150Q	probably damaging	Het
Tifab	T	A	13: 56,176,212	R139S	possibly damaging	Het
Upk2	A	G	9: 44,453,789		probably null	Het
Zdhhc25	G	A	15: 88,600,620	V53I	probably benign	Het
Zfp738	T	A	13: 67,670,243		probably null	Het
Zfp810	C	T	9: 22,279,085	E176K	probably benign	Het
Zfp846	T	A	9: 20,593,263	W140R	possibly damaging	Het

Other mutations in Txndc16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Txndc16	APN	14	45162350	missense	probably damaging	0.99
IGL00427:Txndc16	APN	14	45145090	splice site	probably benign
IGL02554:Txndc16	APN	14	45172538	missense	probably damaging	1.00
IGL02666:Txndc16	APN	14	45211150	splice site	probably benign
IGL02707:Txndc16	APN	14	45162273	missense	probably benign
IGL03198:Txndc16	APN	14	45151484	splice site	probably benign
IGL03256:Txndc16	APN	14	45151896	missense	probably damaging	1.00
R0647:Txndc16	UTSW	14	45169275	missense	probably damaging	1.00
R0647:Txndc16	UTSW	14	45165361	nonsense	probably null
R0838:Txndc16	UTSW	14	45165419	splice site	probably benign
R1035:Txndc16	UTSW	14	45172563	missense	possibly damaging	0.92
R1511:Txndc16	UTSW	14	45151887	missense	probably damaging	0.97
R2114:Txndc16	UTSW	14	45145027	missense	probably benign	0.00
R2139:Txndc16	UTSW	14	45172589	missense	probably damaging	1.00
R3784:Txndc16	UTSW	14	45165886	missense	probably damaging	1.00
R3801:Txndc16	UTSW	14	45151352	missense	possibly damaging	0.85
R5215:Txndc16	UTSW	14	45211140	intron	probably benign
R5620:Txndc16	UTSW	14	45135878	missense	possibly damaging	0.86
R5726:Txndc16	UTSW	14	45165764	missense	probably benign	0.38
R6297:Txndc16	UTSW	14	45151786	missense	probably benign	0.10
R6603:Txndc16	UTSW	14	45151767	missense	probably damaging	0.99
R6626:Txndc16	UTSW	14	45161335	splice site	probably null
R6876:Txndc16	UTSW	14	45163040	missense	possibly damaging	0.55
R7102:Txndc16	UTSW	14	45205382	missense	probably benign	0.00
R7166:Txndc16	UTSW	14	45183154	missense	probably benign	0.22
R7465:Txndc16	UTSW	14	45165388	missense	probably damaging	0.97
R7670:Txndc16	UTSW	14	45135867	nonsense	probably null
R7684:Txndc16	UTSW	14	45147868	missense	possibly damaging	0.83
R7783:Txndc16	UTSW	14	45144960	missense	probably benign	0.02
R8316:Txndc16	UTSW	14	45211184	missense	probably damaging	1.00
R8838:Txndc16	UTSW	14	45140571	missense	probably damaging	1.00
R8926:Txndc16	UTSW	14	45169314	missense	possibly damaging	0.93
R9169:Txndc16	UTSW	14	45135928	missense	probably damaging	1.00
R9327:Txndc16	UTSW	14	45141991	missense	probably benign	0.00
R9489:Txndc16	UTSW	14	45205342	missense	probably damaging	1.00
R9500:Txndc16	UTSW	14	45169341	missense	probably null	0.00
R9605:Txndc16	UTSW	14	45205342	missense	probably damaging	1.00
R9632:Txndc16	UTSW	14	45163010	missense	probably benign	0.00
R9710:Txndc16	UTSW	14	45163010	missense	probably benign	0.00
RF013:Txndc16	UTSW	14	45169338	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- GTGTCAGCCCTAAGAATGAGAGCC -3'
(R):5'- CTTAGCAGGAAGCAGTAGACCAGC -3'

Sequencing Primer
(F):5'- CTTTGTGTAGATGCAGAAAGCCC -3'
(R):5'- GGTTTCAGGAGGGCAGC -3'

Posted On

2014-01-05