Mutagenetix > Incidental Mutation

Incidental Mutation 'R6603:Txndc16'

525490

Institutional Source

Beutler Lab

Gene Symbol

Txndc16

Ensembl Gene

ENSMUSG00000021830

Gene Name

thioredoxin domain containing 16

Synonyms

5730420B22Rik

MMRRC Submission

044726-MU

Accession Numbers

Essential gene?

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

Stock #

R6603 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45371905-45457008 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45389224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 492 (F492S)

Ref Sequence

ENSEMBL: ENSMUSP00000120287 (fasta)

Gene Model

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

AlphaFold

Q7TN22

Predicted Effect

probably damaging
Transcript: ENSMUST00000022377
AA Change: F492S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022377
Gene: ENSMUSG00000021830
AA Change: F492S

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: F492S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123023
Gene: ENSMUSG00000021830
AA Change: F492S

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: ENSMUST00000139526
AA Change: F492S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120287
Gene: ENSMUSG00000021830
AA Change: F492S

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	A	T	8: 25,155,518 (GRCm39)	F167Y	possibly damaging	Het
Ap3d1	A	G	10: 80,549,881 (GRCm39)	S755P	probably benign	Het
Aph1a	A	T	3: 95,802,808 (GRCm39)	N136I	probably damaging	Het
AU040320	T	A	4: 126,686,046 (GRCm39)	N207K	probably benign	Het
Caprin1	A	T	2: 103,605,856 (GRCm39)	D377E	probably benign	Het
Col18a1	A	G	10: 76,899,811 (GRCm39)		probably null	Het
Ddi2	T	C	4: 141,411,181 (GRCm39)	N577S	probably damaging	Het
Dip2c	T	A	13: 9,704,624 (GRCm39)		probably null	Het
Dmbt1	A	T	7: 130,648,240 (GRCm39)		probably null	Het
Fam13a	T	C	6: 58,964,174 (GRCm39)	K86R	probably benign	Het
Fam168b	C	A	1: 34,875,822 (GRCm39)	G21V	probably damaging	Het
Fbxl8	A	T	8: 105,994,842 (GRCm39)	D118V	probably damaging	Het
Garin5b	G	A	7: 4,761,431 (GRCm39)	P427L	possibly damaging	Het
Git2	C	A	5: 114,869,052 (GRCm39)		probably null	Het
Gm17190	T	G	13: 96,218,770 (GRCm39)	D35E	possibly damaging	Het
Gnb4	C	T	3: 32,639,295 (GRCm39)	D333N	probably damaging	Het
Has2	T	A	15: 56,531,968 (GRCm39)	D249V	probably damaging	Het
Ighv1-23	A	G	12: 114,728,141 (GRCm39)	S94P	probably damaging	Het
Itpr2	A	G	6: 146,248,669 (GRCm39)	I1029T	probably damaging	Het
Kctd16	T	C	18: 40,391,544 (GRCm39)	I44T	probably benign	Het
Kpna1	A	G	16: 35,849,890 (GRCm39)		probably null	Het
Lonrf1	T	A	8: 36,690,095 (GRCm39)	R654S	probably damaging	Het
Lrrc49	A	C	9: 60,501,052 (GRCm39)		probably null	Het
Miip	T	G	4: 147,950,380 (GRCm39)	K72T	possibly damaging	Het
Mink1	C	T	11: 70,500,419 (GRCm39)	P782S	probably damaging	Het
Mpped2	A	G	2: 106,697,322 (GRCm39)	T266A	probably benign	Het
Naip1	G	A	13: 100,559,578 (GRCm39)	S1142F	probably benign	Het
Naip1	C	T	13: 100,559,666 (GRCm39)	G1113S	probably benign	Het
Nbr1	A	G	11: 101,446,931 (GRCm39)		probably benign	Het
Necab3	A	T	2: 154,396,842 (GRCm39)	N46K	probably damaging	Het
Or51a8	A	T	7: 102,549,621 (GRCm39)	I16F	probably benign	Het
Phtf1	C	T	3: 103,901,189 (GRCm39)	R360C	probably damaging	Het
Plcl2	A	G	17: 50,914,145 (GRCm39)	I385V	probably benign	Het
Prmt8	A	T	6: 127,706,376 (GRCm39)	F138L	probably benign	Het
Prpf40a	T	G	2: 53,042,975 (GRCm39)	R436S	probably damaging	Het
Rab27b	T	A	18: 70,118,375 (GRCm39)	I181F	probably damaging	Het
Rasgrf1	A	G	9: 89,792,310 (GRCm39)	E87G	probably damaging	Het
Scrib	T	A	15: 75,934,572 (GRCm39)	T674S	probably benign	Het
Slc9a4	A	G	1: 40,662,664 (GRCm39)	S644G	probably benign	Het
Slc9a9	G	A	9: 94,821,599 (GRCm39)	A329T	probably damaging	Het
Smc4	T	C	3: 68,929,794 (GRCm39)		probably null	Het
Sox7	T	A	14: 64,185,637 (GRCm39)	H224Q	probably benign	Het
Spata31	T	C	13: 65,070,479 (GRCm39)	S876P	probably damaging	Het
Syndig1	G	A	2: 149,845,208 (GRCm39)	V244M	probably damaging	Het
Tas2r113	A	T	6: 132,870,421 (GRCm39)	I150L	probably benign	Het
Tasor	A	G	14: 27,168,343 (GRCm39)	Y295C	probably damaging	Het
Tmem59l	G	A	8: 70,939,006 (GRCm39)	P56L	probably benign	Het
Tnfrsf8	A	T	4: 145,019,168 (GRCm39)	D222E	possibly damaging	Het
Trim52	T	C	14: 106,344,483 (GRCm39)	L47P	probably damaging	Het
Ttc34	T	A	4: 154,923,762 (GRCm39)	I157K	probably benign	Het
Ubr4	A	G	4: 139,182,897 (GRCm39)	I428V	probably benign	Het
Vmn2r41	T	A	7: 8,141,359 (GRCm39)	I702F	probably damaging	Het
Wdr12	T	A	1: 60,121,783 (GRCm39)	H256L	probably damaging	Het
Xirp2	A	G	2: 67,346,888 (GRCm39)	H3043R	probably benign	Het
Xrcc1	C	T	7: 24,270,459 (GRCm39)	Q500*	probably null	Het
Zfp583	T	C	7: 6,328,475 (GRCm39)	N38S	probably 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
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
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'- GGACAGGAGATCTTATTCCTGG -3'
(R):5'- TTTGATTCAGGCAGGTCCAC -3'

Sequencing Primer
(F):5'- ACAGAACCTAGCAAACAATAGATTAC -3'
(R):5'- GATTCAGGCAGGTCCACCATCC -3'

Posted On

2018-06-22