Mutagenetix > Incidental Mutation

Incidental Mutation 'R4171:Txndc17'

318141

Institutional Source

Beutler Lab

Gene Symbol

Txndc17

Ensembl Gene

ENSMUSG00000020803

Gene Name

thioredoxin domain containing 17

Synonyms

D11Ertd672e, TRP14, Txnl5, 4831443O22Rik

MMRRC Submission

041011-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.928) question?

Stock #

R4171 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72098373-72100841 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72098537 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 30 (Y30H)

Ref Sequence

ENSEMBL: ENSMUSP00000021158 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021157] [ENSMUST00000021158] [ENSMUST00000108505] [ENSMUST00000108506] [ENSMUST00000131546] [ENSMUST00000142530] [ENSMUST00000204457]

AlphaFold

Q9CQM5

PDB Structure

Solution structure of mouse putative 42-9-9 protein [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000021157

SMART Domains

Protein: ENSMUSP00000021157
Gene: ENSMUSG00000020801

Domain	Start	End	E-Value	Type
Pfam:Med31	15	109	2.7e-43	PFAM
low complexity region	115	125	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000021158
AA Change: Y30H

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021158
Gene: ENSMUSG00000020803
AA Change: Y30H

Domain	Start	End	E-Value	Type
Pfam:DUF953	8	122	7.4e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108505

SMART Domains

Protein: ENSMUSP00000104145
Gene: ENSMUSG00000020807

Domain	Start	End	E-Value	Type
low complexity region	84	93	N/A	INTRINSIC
coiled coil region	210	231	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108506

SMART Domains

Protein: ENSMUSP00000104146
Gene: ENSMUSG00000020807

Domain	Start	End	E-Value	Type
Pfam:DUF4673	1	954	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128648

Predicted Effect

probably benign
Transcript: ENSMUST00000131546

SMART Domains

Protein: ENSMUSP00000122273
Gene: ENSMUSG00000020807

Domain	Start	End	E-Value	Type
low complexity region	84	93	N/A	INTRINSIC
coiled coil region	210	231	N/A	INTRINSIC
coiled coil region	256	279	N/A	INTRINSIC
low complexity region	291	305	N/A	INTRINSIC
low complexity region	360	377	N/A	INTRINSIC
low complexity region	545	559	N/A	INTRINSIC
coiled coil region	625	653	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142530

SMART Domains

Protein: ENSMUSP00000115276
Gene: ENSMUSG00000020807

Domain	Start	End	E-Value	Type
low complexity region	84	93	N/A	INTRINSIC
coiled coil region	210	231	N/A	INTRINSIC
coiled coil region	256	279	N/A	INTRINSIC
low complexity region	291	305	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204457

SMART Domains

Protein: ENSMUSP00000144817
Gene: ENSMUSG00000107877

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
low complexity region	26	43	N/A	INTRINSIC
low complexity region	240	250	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154093

Meta Mutation Damage Score

0.7861

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
2310022A10Rik	A	G	7: 27,265,109 (GRCm39)	N87S	probably benign	Het
Apmap	A	G	2: 150,425,987 (GRCm39)	V387A	probably benign	Het
B130024G19Rik	C	T	7: 70,038,454 (GRCm39)		noncoding transcript	Het
Cd200r1	A	G	16: 44,613,127 (GRCm39)	I244M	probably damaging	Het
Clic6	T	C	16: 92,293,949 (GRCm39)		probably benign	Het
Col11a1	A	G	3: 114,001,863 (GRCm39)	D429G	probably damaging	Het
Dsg4	T	A	18: 20,591,636 (GRCm39)	Y458*	probably null	Het
Elapor1	G	T	3: 108,368,259 (GRCm39)	Q885K	probably benign	Het
Fbxl13	A	G	5: 21,748,786 (GRCm39)	Y378H	probably benign	Het
Ifi203	A	C	1: 173,761,341 (GRCm39)		probably benign	Het
Ifna6	T	C	4: 88,746,038 (GRCm39)	V129A	probably benign	Het
Igkv3-4	G	A	6: 70,649,324 (GRCm39)	A108T	probably damaging	Het
Itga1	G	A	13: 115,167,422 (GRCm39)	Q165*	probably null	Het
Kdm4c	T	A	4: 74,199,135 (GRCm39)	Y108N	possibly damaging	Het
Lap3	T	C	5: 45,666,833 (GRCm39)	S412P	probably benign	Het
Lrfn5	G	A	12: 61,890,168 (GRCm39)	V486I	probably damaging	Het
Mep1b	A	T	18: 21,228,163 (GRCm39)		probably null	Het
Mettl6	T	C	14: 31,215,624 (GRCm39)	N52S	probably damaging	Het
Nup54	A	G	5: 92,565,343 (GRCm39)	I458T	possibly damaging	Het
Or1e16	A	C	11: 73,286,365 (GRCm39)	L161R	probably damaging	Het
Or6c204	G	A	10: 129,022,453 (GRCm39)	A279V	probably benign	Het
Pecr	A	T	1: 72,315,428 (GRCm39)	N107K	probably damaging	Het
Pnpla6	A	G	8: 3,593,997 (GRCm39)	Q1307R	probably benign	Het
Poll	T	C	19: 45,544,492 (GRCm39)	K310E	probably damaging	Het
Rab29	A	G	1: 131,795,475 (GRCm39)	Q29R	probably benign	Het
Reg2	G	A	6: 78,383,574 (GRCm39)	G99D	probably damaging	Het
Rftn2	G	A	1: 55,253,429 (GRCm39)	S58L	probably damaging	Het
Rps6kb1	T	C	11: 86,435,405 (GRCm39)	E43G	possibly damaging	Het
Sdk2	T	C	11: 113,757,815 (GRCm39)		probably null	Het
Slc38a6	T	A	12: 73,397,326 (GRCm39)	Y323N	probably benign	Het
Sp100	T	C	1: 85,634,562 (GRCm39)	S152P	probably benign	Het
Tmc5	A	G	7: 118,248,810 (GRCm39)	Y605C	probably damaging	Het
Vmn1r44	T	A	6: 89,870,996 (GRCm39)	F247L	probably damaging	Het
Zbtb39	C	T	10: 127,578,236 (GRCm39)	T270I	possibly damaging	Het
Zfp512b	G	A	2: 181,232,391 (GRCm39)		probably null	Het
Zwilch	T	A	9: 64,065,997 (GRCm39)	R255*	probably null	Het

Other mutations in Txndc17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0212:Txndc17	UTSW	11	72,098,558 (GRCm39)	missense	probably benign
R1536:Txndc17	UTSW	11	72,098,533 (GRCm39)	missense	probably damaging	0.97
R1793:Txndc17	UTSW	11	72,099,571 (GRCm39)	missense	probably benign	0.29
R4604:Txndc17	UTSW	11	72,100,274 (GRCm39)	missense	probably benign
R5045:Txndc17	UTSW	11	72,098,537 (GRCm39)	missense	probably damaging	0.97
R8015:Txndc17	UTSW	11	72,098,568 (GRCm39)	missense	probably benign
R8129:Txndc17	UTSW	11	72,098,588 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAACCTTGTCCACGCCTTAC -3'
(R):5'- GGTTCCAAGATCCGAATCCATG -3'

Sequencing Primer
(F):5'- GTCCACGCCTTACTTGGG -3'
(R):5'- TACAGCTCAGGCGCTTCTG -3'

Posted On

2015-06-10