Mutagenetix > Incidental Mutations

Incidental Mutation 'RF013:Txndc16'

603362

Institutional Source

Beutler Lab

Gene Symbol

Txndc16

Ensembl Gene

ENSMUSG00000021830

Gene Name

thioredoxin domain containing 16

Synonyms

5730420B22Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

RF013 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45133465-45220328 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45169338 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 220 (V220A)

Ref Sequence

ENSEMBL: ENSMUSP00000123023 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000022377
AA Change: V220A

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000022377
Gene: ENSMUSG00000021830
AA Change: V220A

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: V220A

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000123023
Gene: ENSMUSG00000021830
AA Change: V220A

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 damaging
Transcript: ENSMUST00000128484
AA Change: V220A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000139526
AA Change: V220A

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000120287
Gene: ENSMUSG00000021830
AA Change: V220A

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 damaging
Transcript: ENSMUST00000147853
AA Change: V220A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000156600

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019N19Rik	A	G	19: 58,789,294	F28S	probably damaging	Het
4930435E12Rik	T	C	16: 38,828,001	T249A	probably benign	Het
4932438A13Rik	TTAT	TTATTATTATTATTAGTAT	3: 37,050,757		probably benign	Het
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,905,096		probably benign	Het
Adamts9	A	G	6: 92,943,145	V4A	possibly damaging	Het
AI837181	GGC	GGCTGC	19: 5,425,232		probably benign	Het
Alk	A	G	17: 71,895,936	Y1135H	probably damaging	Het
Ankhd1	CGGCGG	CGGCGGAGGCGG	18: 36,560,926		probably benign	Het
Ano3	A	C	2: 110,697,036	L609R	probably benign	Het
Bicc1	A	G	10: 70,935,830		probably null	Het
Card6	T	C	15: 5,100,142	I591V	probably benign	Het
Ccdc18	A	G	5: 108,220,716	N1235D	probably benign	Het
Cd109	TTAT	TTATTTATTTATCTAT	9: 78,712,531		probably benign	Het
Cnpy3	CCT	CCTGCT	17: 46,736,744		probably benign	Het
Col6a5	GCAGTC	GCAGTCTCCAGTC	9: 105,878,597		probably null	Het
Cyb5r4	GACACACTGCCCAGGGA	GACACACTGCCCAGGGATGTGACACACACACTGCCCAGGGA	9: 87,040,432		probably benign	Het
Cyp8b1	A	T	9: 121,915,495	M257K	possibly damaging	Het
Dbf4	A	T	5: 8,397,985	H408Q	possibly damaging	Het
Defb22	TTGCGGCA	TTGCGGCAGAGCTGGCCTGTGCGGCA	2: 152,485,831		probably benign	Het
Ercc6l2	A	T	13: 63,853,017	T417S	probably benign	Het
Exd2	AGCCACAG	A	12: 80,475,932		probably null	Het
Fam171b	GC	GCAGCATC	2: 83,812,895		probably benign	Het
Fam71e1	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGACGGCTGGATCCTGGATCACTGGGTCTGAGGGAGGA	7: 44,500,520		probably null	Het
Flvcr2	T	A	12: 85,747,186	L112Q	probably damaging	Het
Flywch1	GTG	GTGGGGGGAGGCTACGTACTCACCCACTCCTTTTG	17: 23,762,175		probably null	Het
Gabre	TCAGGCTCAGGCT	TCAGGCTCAGGCTCAGGCT	X: 72,270,416		probably benign	Het
Gm4884	C	A	7: 41,040,809	P43Q	probably damaging	Het
Gm6588	T	A	5: 112,450,071	N161K	probably benign	Het
Grm8	A	G	6: 27,363,780	W579R	probably damaging	Het
Hsdl2	AG	AGCAGCAGCCACAGCTGCCG	4: 59,610,657		probably benign	Het
Ivl	CTGCTGCTGCTGCTGT	C	3: 92,572,343		probably benign	Het
Kif18b	T	C	11: 102,912,366	D506G	probably benign	Het
Krtap28-10	AGCCAC	AGCCACGGCCAC	1: 83,042,135		probably benign	Het
Krtap28-10	GCCACAGCCACCACA	GCCACAGCCACCACATCCACAGCCACCACA	1: 83,042,274		probably benign	Het
Lama1	C	A	17: 67,781,062	S1558R		Het
Lcmt1	C	CCGCGGGGCTT	7: 123,369,836		probably null	Het
Lmna	A	G	3: 88,484,054	V494A	probably benign	Het
Mapk6	CCAC	CCACCTCAC	9: 75,388,260		probably null	Het
Mboat7	T	A	7: 3,691,857	H52L	probably damaging	Het
Med12l	CAG	CAGAAG	3: 59,275,966		probably benign	Het
Morc2a	T	A	11: 3,676,191	M225K	probably benign	Het
Mpdz	G	A	4: 81,293,592	A1566V	possibly damaging	Het
Mpi	T	C	9: 57,548,641	D186G	probably benign	Het
Mtmr12	C	A	15: 12,261,898	N386K	probably damaging	Het
Myh3	ATTAC	ATTACTTAC	11: 67,086,356		probably null	Het
Myo10	T	A	15: 25,799,479	M1376K	probably damaging	Het
Nbas	C	T	12: 13,279,408	T118I	possibly damaging	Het
Nedd4l	C	T	18: 65,209,680	R755C	probably damaging	Het
Nefh	GACTTGGCCTCACCTGGG	GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG	11: 4,941,032		probably benign	Het
Numa1	T	C	7: 101,999,780	L906P	probably damaging	Het
Olfr750	G	A	14: 51,071,012	A127V	probably damaging	Het
Olfr871	T	C	9: 20,212,894	S182P	probably benign	Het
Otop2	G	T	11: 115,323,666	R83L	probably benign	Het
Pmm1	T	A	15: 81,957,813	Q62L	probably damaging	Het
Pramef25	C	G	4: 143,948,908	Q449H	probably damaging	Het
Ptprj	A	T	2: 90,471,170	L206*	probably null	Het
Rassf6	TC	TCTGCCTCACTCATGGTCCTGTAGAGCATTGGGGATCC	5: 90,608,941		probably benign	Het
Rps19	A	AGAAAAT	7: 24,889,180		probably benign	Het
Rsrp1	T	A	4: 134,923,955	V10E	unknown	Het
Sh2d6	C	T	6: 72,516,388		probably null	Het
Six4	TG	T	12: 73,103,582		probably null	Het
Slc6a15	T	A	10: 103,400,216	V264D	probably damaging	Het
Snapc5	ATGGAAGAAGAGG	A	9: 64,182,211		probably benign	Het
Sost	A	T	11: 101,964,132	I117N	probably damaging	Het
Tbc1d22a	AGGTGTGTG	A	15: 86,299,774		probably null	Het
Tcaf1	C	T	6: 42,679,173	V290I	probably benign	Het
Tcof1	GCA	GCACCA	18: 60,835,743		probably benign	Het
Tgfbr1	A	G	4: 47,353,354	I15V	unknown	Het
Tmem241	A	T	18: 11,983,561	L288Q	probably damaging	Het
Tnfrsf13b	T	G	11: 61,141,444	V100G	probably benign	Het
Trim66	A	G	7: 109,460,753	S809P	probably damaging	Het
Tubb4a	C	G	17: 57,087,464	G17A	possibly damaging	Het
Zan	T	A	5: 137,391,720	Q4830L	unknown	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
R1116:Txndc16	UTSW	14	45162985	missense	probably benign	0.06
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

Predicted Primers

PCR Primer
(F):5'- GAGCACTCACAAGGATCTGC -3'
(R):5'- CATCTGTGACTGTCTTACTGAAATC -3'

Sequencing Primer
(F):5'- GACTCAGTATTACCACTCGTGTG -3'
(R):5'- ATTTTCTGTCTTCTTTGTCCAAGTTG -3'

Posted On

2019-12-04