Mutagenetix > Incidental Mutation

Incidental Mutation 'R6876:Txndc16'

536433

Institutional Source

Beutler Lab

Gene Symbol

Txndc16

Ensembl Gene

ENSMUSG00000021830

Gene Name

thioredoxin domain containing 16

Synonyms

5730420B22Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R6876 (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 45163040 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 335 (F335L)

Ref Sequence

ENSEMBL: ENSMUSP00000123023 (fasta)

Gene Model

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

AlphaFold

Q7TN22

Predicted Effect

probably benign
Transcript: ENSMUST00000022377
AA Change: F335L

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000022377
Gene: ENSMUSG00000021830
AA Change: F335L

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

possibly damaging
Transcript: ENSMUST00000123879
AA Change: F335L

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000123023
Gene: ENSMUSG00000021830
AA Change: F335L

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: F335L

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000120287
Gene: ENSMUSG00000021830
AA Change: F335L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016F16Rik	T	C	13: 58,385,096	D20G	probably damaging	Het
Aasdh	T	C	5: 76,896,441	T201A	probably damaging	Het
Abca12	T	A	1: 71,263,508	D2184V	probably damaging	Het
Abcf1	C	T	17: 35,959,244	D641N	probably benign	Het
Adgrv1	C	A	13: 81,155,154		probably null	Het
Aftph	T	C	11: 20,709,744	E693G	probably damaging	Het
Ahnak	A	G	19: 9,014,120	D4256G	probably damaging	Het
Arv1	A	G	8: 124,730,912	K185R	probably damaging	Het
Ces4a	T	A	8: 105,144,992	V258D	possibly damaging	Het
Col6a5	T	C	9: 105,937,307	D502G	unknown	Het
Diaph1	A	T	18: 37,896,373	H335Q	unknown	Het
Dtna	G	A	18: 23,611,110	V404I	probably benign	Het
Ephb1	T	C	9: 101,984,120	D615G	probably damaging	Het
Gimap3	A	T	6: 48,765,921	I25N	probably damaging	Het
Hao1	A	G	2: 134,501,149	V274A	probably benign	Het
Hirip3	T	C	7: 126,864,149	S426P	probably damaging	Het
Igkv4-69	T	C	6: 69,283,834	D103G	probably damaging	Het
Kdm8	T	C	7: 125,452,658	V141A	probably benign	Het
Mink1	G	T	11: 70,607,435	A553S	probably benign	Het
Mpl	T	A	4: 118,457,120	Y60F	probably damaging	Het
Muc5ac	C	T	7: 141,809,744		probably benign	Het
Myo5a	C	A	9: 75,160,490	R609S	probably benign	Het
Myo5b	A	T	18: 74,707,955	H969L	probably benign	Het
Olfr1388	T	C	11: 49,444,241	L130P	probably damaging	Het
Olfr354	T	A	2: 36,907,822	I292N	probably damaging	Het
Olfr92	G	C	17: 37,111,206	Q259E	probably damaging	Het
Peg10	T	TCCA	6: 4,756,451		probably benign	Het
Prodh2	T	A	7: 30,506,500	W207R	probably damaging	Het
Rfx6	A	G	10: 51,719,991	K457E	probably damaging	Het
Sim1	A	G	10: 50,983,695	E551G	possibly damaging	Het
Soat2	T	C	15: 102,160,614	F358S	probably damaging	Het
Tes3-ps	A	G	13: 49,493,719	K24E	probably benign	Het
Unc45b	T	C	11: 82,922,912	Y382H	probably benign	Het
Vmn2r60	A	G	7: 42,135,663	T100A	probably null	Het
Vmn2r93	T	A	17: 18,305,188	H369Q	probably benign	Het
Yy1	A	G	12: 108,806,592	I265V	probably benign	Het
Zfp54	A	T	17: 21,433,977	K244N	probably 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
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
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'- GAGAAAGCAGCCTGACATCTG -3'
(R):5'- GGCTACTTGTAAGTAAATACGGGG -3'

Sequencing Primer
(F):5'- AGCCTGACATCTGCTCACC -3'
(R):5'- TAAATACGGGGTACTGCTTAGC -3'

Posted On

2018-10-18