Mutagenetix > Incidental Mutation

Incidental Mutation 'R0647:Txndc16'

57294

Institutional Source

Beutler Lab

Gene Symbol

Txndc16

Ensembl Gene

ENSMUSG00000021830

Gene Name

thioredoxin domain containing 16

Synonyms

5730420B22Rik

MMRRC Submission

038832-MU

Accession Numbers

Essential gene?

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

Stock #

R0647 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45371905-45457008 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45406732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 241 (I241N)

Ref Sequence

ENSEMBL: ENSMUSP00000154077 (fasta)

Gene Model

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

AlphaFold

Q7TN22

Predicted Effect

probably damaging
Transcript: ENSMUST00000022377
AA Change: I241N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022377
Gene: ENSMUSG00000021830
AA Change: I241N

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: ENSMUST00000123879
AA Change: I241N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123023
Gene: ENSMUSG00000021830
AA Change: I241N

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: I241N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000139526
AA Change: I241N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120287
Gene: ENSMUSG00000021830
AA Change: I241N

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: I241N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000156600
AA Change: I17N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	C	A	11: 50,494,265 (GRCm39)	T113K	probably damaging	Het
Adgre1	T	A	17: 57,718,003 (GRCm39)	N338K	probably damaging	Het
Aggf1	A	T	13: 95,508,164 (GRCm39)		probably null	Het
Apc2	A	T	10: 80,140,762 (GRCm39)	I206F	probably damaging	Het
Carmil3	T	C	14: 55,739,892 (GRCm39)		probably null	Het
Ccdc110	A	C	8: 46,396,425 (GRCm39)	E772A	probably damaging	Het
Cdh23	A	G	10: 60,143,681 (GRCm39)	F2977L	probably damaging	Het
Cdh23	A	T	10: 60,159,153 (GRCm39)	Y2207*	probably null	Het
Cfap20dc	T	A	14: 8,536,655 (GRCm38)	D184V	possibly damaging	Het
Chd4	T	A	6: 125,086,086 (GRCm39)	N908K	probably damaging	Het
Chst9	A	G	18: 15,585,726 (GRCm39)	I279T	probably damaging	Het
Ctnna3	A	T	10: 63,656,203 (GRCm39)	N261I	probably benign	Het
Dlgap2	A	T	8: 14,777,591 (GRCm39)	S279C	possibly damaging	Het
Dock4	G	A	12: 40,760,883 (GRCm39)	E524K	probably damaging	Het
Fabp12	T	A	3: 10,311,096 (GRCm39)	N122I	possibly damaging	Het
Fam184b	T	C	5: 45,741,932 (GRCm39)	T100A	probably benign	Het
Fbxl5	T	C	5: 43,925,411 (GRCm39)	D176G	probably damaging	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Foxe1	A	G	4: 46,344,477 (GRCm39)	N95S	possibly damaging	Het
Frem3	A	G	8: 81,341,814 (GRCm39)	E1369G	probably damaging	Het
Frmpd4	C	T	X: 166,272,006 (GRCm39)	E483K	probably damaging	Het
Gbp11	T	C	5: 105,478,830 (GRCm39)	K203E	possibly damaging	Het
Hs3st6	C	T	17: 24,977,134 (GRCm39)	R205C	probably damaging	Het
Ifitm10	C	T	7: 141,909,772 (GRCm39)	S179N	probably damaging	Het
Irx2	A	C	13: 72,778,799 (GRCm39)	N121T	probably damaging	Het
Itih1	A	T	14: 30,657,820 (GRCm39)	V417E	probably damaging	Het
Itpr1	A	C	6: 108,360,659 (GRCm39)	E695A	probably damaging	Het
Kif1c	T	A	11: 70,616,967 (GRCm39)	I755K	probably damaging	Het
Lamb3	A	G	1: 193,013,104 (GRCm39)	E443G	probably damaging	Het
Lrp1	G	C	10: 127,407,346 (GRCm39)	T1865R	probably damaging	Het
Lrrc8b	T	A	5: 105,628,473 (GRCm39)	I273K	possibly damaging	Het
Ly9	T	C	1: 171,427,376 (GRCm39)	Y393C	probably damaging	Het
Mphosph8	T	C	14: 56,911,862 (GRCm39)	V295A	probably benign	Het
Nlrp5	T	A	7: 23,117,132 (GRCm39)	D269E	probably damaging	Het
Or1r1	G	A	11: 73,874,597 (GRCm39)	A279V	probably damaging	Het
Or2t6	T	G	14: 14,175,858 (GRCm38)	T75P	probably benign	Het
Or4k44	A	G	2: 111,367,704 (GRCm39)	V310A	probably benign	Het
Or52u1	T	G	7: 104,237,322 (GRCm39)	F104V	probably damaging	Het
Or5p50	T	A	7: 107,422,218 (GRCm39)	I153F	probably benign	Het
Otud3	A	G	4: 138,640,948 (GRCm39)	L64P	probably damaging	Het
Pcdh17	A	T	14: 84,685,213 (GRCm39)	H560L	possibly damaging	Het
Pcdhb21	T	C	18: 37,646,913 (GRCm39)	V14A	probably damaging	Het
Prss3l	A	T	6: 41,420,275 (GRCm39)	F150L	probably benign	Het
Rbfox1	A	T	16: 7,042,248 (GRCm39)	Q14L	probably damaging	Het
Rbm44	A	G	1: 91,084,650 (GRCm39)	D665G	probably benign	Het
Rc3h2	C	T	2: 37,299,542 (GRCm39)	V163M	probably damaging	Het
Sash1	T	A	10: 8,605,316 (GRCm39)	R1025W	probably damaging	Het
Sgpl1	A	G	10: 60,949,267 (GRCm39)	S146P	probably damaging	Het
Slc27a2	G	A	2: 126,429,836 (GRCm39)	D615N	probably benign	Het
Smap1	A	G	1: 23,892,559 (GRCm39)	I135T	probably damaging	Het
Snapc3	A	G	4: 83,368,466 (GRCm39)	D321G	probably damaging	Het
St6galnac4	C	T	2: 32,479,460 (GRCm39)	R6C	probably damaging	Het
Syne2	C	T	12: 75,934,977 (GRCm39)	P153L	probably benign	Het
Tiprl	A	G	1: 165,050,092 (GRCm39)		probably null	Het
Tmem94	A	G	11: 115,687,621 (GRCm39)	N1160S	probably damaging	Het
Trim65	G	A	11: 116,019,036 (GRCm39)	R168C	possibly damaging	Het
Ugt2b38	A	G	5: 87,571,328 (GRCm39)	S235P	probably benign	Het
Ugt3a1	A	T	15: 9,310,635 (GRCm39)	M306L	probably benign	Het
Vmn1r23	T	A	6: 57,903,169 (GRCm39)	Y203F	probably benign	Het
Vmn2r3	T	A	3: 64,183,046 (GRCm39)	I218F	probably damaging	Het
Wdfy4	A	G	14: 32,831,656 (GRCm39)	C857R	possibly damaging	Het
Zfp493	A	C	13: 67,931,994 (GRCm39)	K31T	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TGAGCACTCACAAGGATCTGCAC -3'
(R):5'- TTGCATTGTAAGAGGACTTCACACAGAA -3'

Sequencing Primer
(F):5'- AAGGATCTGCACTCCTTATAACTCTG -3'
(R):5'- GAATCTTATTAATTGCCTTGTCCTGG -3'

Posted On

2013-07-11