Mutagenetix > Incidental Mutation

Incidental Mutation 'R5726:Txndc16'

452516

Institutional Source

Beutler Lab

Gene Symbol

Txndc16

Ensembl Gene

ENSMUSG00000021830

Gene Name

thioredoxin domain containing 16

Synonyms

5730420B22Rik

MMRRC Submission

043344-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R5726 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45371905-45457008 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45403221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 297 (H297Y)

Ref Sequence

ENSEMBL: ENSMUSP00000120287 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022377] [ENSMUST00000123879] [ENSMUST00000128484] [ENSMUST00000139526] [ENSMUST00000147853]

AlphaFold

Q7TN22

Predicted Effect

probably benign
Transcript: ENSMUST00000022377
AA Change: H297Y

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000022377
Gene: ENSMUSG00000021830
AA Change: H297Y

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: H297Y

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000123023
Gene: ENSMUSG00000021830
AA Change: H297Y

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: ENSMUST00000128484

Predicted Effect

probably benign
Transcript: ENSMUST00000139526
AA Change: H297Y

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000120287
Gene: ENSMUSG00000021830
AA Change: H297Y

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

unknown
Transcript: ENSMUST00000156600
AA Change: H73Y

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	T	C	7: 127,835,832 (GRCm39)	K254E	probably damaging	Het
Aak1	C	T	6: 86,902,106 (GRCm39)	Q92*	probably null	Het
Acss3	T	C	10: 106,959,183 (GRCm39)	T88A	possibly damaging	Het
Adcy4	A	T	14: 56,021,118 (GRCm39)	S6R	probably damaging	Het
Aldh1l2	T	C	10: 83,348,170 (GRCm39)	E311G	possibly damaging	Het
Arhgap25	C	T	6: 87,440,441 (GRCm39)	S402N	probably benign	Het
Btn1a1	T	A	13: 23,643,522 (GRCm39)	D309V	probably damaging	Het
Cdh23	C	T	10: 60,243,259 (GRCm39)	V1037M	probably damaging	Het
Clcn2	T	C	16: 20,529,285 (GRCm39)		probably benign	Het
Cln3	T	C	7: 126,174,673 (GRCm39)	T276A	probably null	Het
CN725425	A	G	15: 91,144,706 (GRCm39)	E523G	possibly damaging	Het
Crppa	T	C	12: 36,597,829 (GRCm39)	V320A	probably damaging	Het
Cspg4	A	T	9: 56,793,188 (GRCm39)	T308S	probably damaging	Het
Dgkh	G	T	14: 78,862,342 (GRCm39)	F208L	probably benign	Het
Eif2ak4	A	G	2: 118,273,613 (GRCm39)	D846G	probably damaging	Het
Fmo4	A	G	1: 162,635,828 (GRCm39)		probably null	Het
Foxp4	A	G	17: 48,180,033 (GRCm39)	Y623H	unknown	Het
Fxr2	T	C	11: 69,524,172 (GRCm39)	V10A	probably benign	Het
Gm10271	T	C	10: 116,792,792 (GRCm39)		probably null	Het
Gsk3b	T	C	16: 38,028,498 (GRCm39)		probably benign	Het
Ift43	T	A	12: 86,208,957 (GRCm39)	D169E	probably damaging	Het
Ift57	T	A	16: 49,519,861 (GRCm39)	L54H	probably damaging	Het
Ighv1-37	T	C	12: 114,860,294 (GRCm39)		probably benign	Het
Kl	A	G	5: 150,915,003 (GRCm39)	N910S	possibly damaging	Het
Lrp2	T	C	2: 69,339,491 (GRCm39)	D1140G	probably damaging	Het
Map1a	G	A	2: 121,135,546 (GRCm39)	A1883T	probably damaging	Het
Map4k2	G	T	19: 6,401,362 (GRCm39)	G611C	probably damaging	Het
Mical1	A	G	10: 41,359,692 (GRCm39)		probably benign	Het
Myh14	A	G	7: 44,292,886 (GRCm39)		probably null	Het
Myh8	T	A	11: 67,185,392 (GRCm39)	V881D	possibly damaging	Het
Myo1g	G	T	11: 6,459,420 (GRCm39)	Q817K	probably benign	Het
Nin	A	C	12: 70,124,953 (GRCm39)	V123G	probably damaging	Het
Nup160	A	G	2: 90,548,195 (GRCm39)	D976G	probably damaging	Het
Nup210l	A	T	3: 90,036,514 (GRCm39)		probably null	Het
Or5an1c	A	G	19: 12,218,644 (GRCm39)	I127T	probably damaging	Het
Phf14	T	C	6: 11,933,537 (GRCm39)		probably benign	Het
Podxl2	T	C	6: 88,825,721 (GRCm39)	D400G	probably damaging	Het
Pygl	C	T	12: 70,237,916 (GRCm39)	W707*	probably null	Het
Rnf19b	T	C	4: 128,965,685 (GRCm39)	V261A	possibly damaging	Het
Rnf213	A	G	11: 119,307,284 (GRCm39)	Y648C	probably damaging	Het
Scn5a	C	T	9: 119,362,913 (GRCm39)	R569H	probably damaging	Het
Sdk2	A	G	11: 113,742,626 (GRCm39)	L761P	probably damaging	Het
Shroom3	C	T	5: 93,090,864 (GRCm39)	P1124S	probably benign	Het
Sirt4	A	G	5: 115,617,705 (GRCm39)	V317A	probably benign	Het
Skic3	T	C	13: 76,266,466 (GRCm39)	Y238H	probably damaging	Het
Slc12a2	G	T	18: 58,029,426 (GRCm39)	A271S	probably benign	Het
Slc6a9	A	G	4: 117,721,210 (GRCm39)	Y208C	probably damaging	Het
Snap23	T	A	2: 120,414,752 (GRCm39)		probably benign	Het
Sra1	C	T	18: 36,803,226 (GRCm39)		probably benign	Het
Srbd1	C	T	17: 86,428,157 (GRCm39)	D359N	possibly damaging	Het
Srp19	A	G	18: 34,464,826 (GRCm39)	Y22C	probably damaging	Het
Sstr4	T	C	2: 148,238,003 (GRCm39)	S205P	probably damaging	Het
Sv2b	T	C	7: 74,773,962 (GRCm39)	D503G	possibly damaging	Het
Tbc1d30	C	T	10: 121,103,479 (GRCm39)	V518M	probably damaging	Het
Tlr4	A	G	4: 66,758,652 (GRCm39)	K482E	probably benign	Het
Tpm1	G	A	9: 66,930,694 (GRCm39)	L310F	probably damaging	Het
Trpm6	A	G	19: 18,830,981 (GRCm39)	Y1282C	probably damaging	Het
Tsc22d1	T	A	14: 76,742,757 (GRCm39)	L65*	probably null	Het
Ttc39c	C	A	18: 12,830,992 (GRCm39)	A284D	probably damaging	Het
Utrn	A	T	10: 12,545,550 (GRCm39)	D1698E	probably benign	Het
Vmn1r232	C	T	17: 21,133,601 (GRCm39)	R333H	probably benign	Het
Vmn2r14	A	T	5: 109,365,486 (GRCm39)	D529E	possibly damaging	Het
Vmn2r70	C	T	7: 85,208,315 (GRCm39)	V721I	probably damaging	Het
Zbtb18	A	G	1: 177,276,119 (GRCm39)	H484R	probably damaging	Het
Zc3h13	T	A	14: 75,568,269 (GRCm39)	S1187R	possibly damaging	Het
Zfhx4	T	A	3: 5,468,381 (GRCm39)	D2846E	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
IGL02707:Txndc16	APN	14	45,399,730 (GRCm39)	missense	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
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

Predicted Primers

PCR Primer
(F):5'- GTCTAAAGAAGCCACCCAGG -3'
(R):5'- CAGTCTGTCATGTGGGTTATTACC -3'

Sequencing Primer
(F):5'- TTAGTGAGCTTGAGAAATTCCATG -3'
(R):5'- CCATAGAATGAGAATGTTTTGCCTTC -3'

Posted On

2017-01-03