Mutagenetix > Incidental Mutation

Incidental Mutation 'R7285:Txndc11'

565958

Institutional Source

Beutler Lab

Gene Symbol

Txndc11

Ensembl Gene

ENSMUSG00000022498

Gene Name

thioredoxin domain containing 11

Synonyms

2810408E11Rik, EF-hand binding protein 1, Txdc11, EFP1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R7285 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11074911-11134650 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11084299 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 684 (Y684H)

Ref Sequence

ENSEMBL: ENSMUSP00000041113 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038424] [ENSMUST00000118362] [ENSMUST00000145225]

AlphaFold

Q8K2W3

Predicted Effect

probably damaging
Transcript: ENSMUST00000038424
AA Change: Y684H

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000041113
Gene: ENSMUSG00000022498
AA Change: Y684H

Domain	Start	End	E-Value	Type
low complexity region	2	42	N/A	INTRINSIC
low complexity region	61	76	N/A	INTRINSIC
low complexity region	92	103	N/A	INTRINSIC
Pfam:Thioredoxin	107	208	5.8e-11	PFAM
Pfam:Thioredoxin	660	756	1e-11	PFAM
coiled coil region	793	830	N/A	INTRINSIC
low complexity region	927	936	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118362

SMART Domains

Protein: ENSMUSP00000113432
Gene: ENSMUSG00000022498

Domain	Start	End	E-Value	Type
low complexity region	2	42	N/A	INTRINSIC
low complexity region	61	76	N/A	INTRINSIC
low complexity region	92	103	N/A	INTRINSIC
Pfam:Thioredoxin	107	208	2.5e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145225

SMART Domains

Protein: ENSMUSP00000116563
Gene: ENSMUSG00000022498

Domain	Start	End	E-Value	Type
low complexity region	2	42	N/A	INTRINSIC
low complexity region	61	76	N/A	INTRINSIC
low complexity region	92	103	N/A	INTRINSIC
Pfam:Thioredoxin	107	208	5.2e-12	PFAM

Meta Mutation Damage Score

0.7066

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016F16Rik	T	C	13: 58,384,385	Y119C	probably damaging	Het
Abca12	A	T	1: 71,349,155	C185*	probably null	Het
Abcc3	C	T	11: 94,357,047	A1207T	probably benign	Het
Adam1b	T	G	5: 121,500,993	D663A	probably damaging	Het
Arhgap12	A	T	18: 6,111,920	L148Q	probably damaging	Het
Cdh4	A	T	2: 179,797,465	Q135L	probably benign	Het
Clca3b	T	C	3: 144,837,758	I437V	probably benign	Het
Cldn15	A	T	5: 136,972,473	H124L	probably benign	Het
Cyp4a30b	T	C	4: 115,456,651	M143T	probably damaging	Het
Dgcr2	A	T	16: 17,845,080	C353*	probably null	Het
Dhcr24	T	A	4: 106,571,519		probably null	Het
Dock1	T	G	7: 134,745,008	L223R	probably benign	Het
Ece1	T	A	4: 137,913,763		probably null	Het
Efcab5	A	G	11: 77,137,344	V387A	probably benign	Het
Efcab5	A	G	11: 77,138,215	F97L	possibly damaging	Het
Eme2	A	T	17: 24,894,569		probably null	Het
Enpp1	G	A	10: 24,660,161	T447I	probably benign	Het
Fam222b	T	C	11: 78,143,181	S17P	probably benign	Het
Fbln1	A	G	15: 85,237,628	I317V	probably benign	Het
Fn1	T	C	1: 71,637,339	K578E	probably damaging	Het
Fscb	A	T	12: 64,471,549	S1048T	unknown	Het
Fsd1l	T	A	4: 53,682,200		probably null	Het
Gm340	A	G	19: 41,584,315	K503R	possibly damaging	Het
Hexa	T	A	9: 59,563,939	I492K	probably benign	Het
Inpp5e	G	A	2: 26,397,858	A642V	probably benign	Het
Ints11	C	T	4: 155,886,111	A241V	probably damaging	Het
Irs2	A	G	8: 11,006,797	L545P	probably damaging	Het
Katnal2	G	A	18: 76,993,575	A409V	probably benign	Het
Kif13a	C	T	13: 46,752,455	V671M	possibly damaging	Het
Lbx2	A	G	6: 83,087,896	K138R	probably damaging	Het
Lpp	G	A	16: 24,977,279	A558T	probably damaging	Het
Lypla1	T	C	1: 4,841,098	I202T	probably benign	Het
Magi3	G	A	3: 104,034,114	P842S	probably benign	Het
Meioc	G	A	11: 102,666,342	V25M	probably benign	Het
Mthfr	C	T	4: 148,053,599	T557I	probably benign	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Olfr1165-ps	A	T	2: 88,101,705	I94N	probably damaging	Het
Olfr314	T	A	11: 58,786,484	Y83*	probably null	Het
Osbpl10	A	T	9: 115,223,703	I440F	probably damaging	Het
Otx2	G	A	14: 48,661,465	A36V	probably benign	Het
Parg	A	G	14: 32,210,508	Y435C	probably damaging	Het
Parvb	A	T	15: 84,282,784	D100V	possibly damaging	Het
Prss27	A	G	17: 24,045,691	H276R	probably benign	Het
Prune1	T	A	3: 95,255,046	S439C	probably damaging	Het
Pudp	C	G	18: 50,568,216	E149Q	possibly damaging	Het
Sin3a	C	A	9: 57,127,299	T1252N	possibly damaging	Het
Sptbn2	A	G	19: 4,737,443	D927G	probably benign	Het
Stx18	C	T	5: 38,104,907	T89I	possibly damaging	Het
Ticrr	T	C	7: 79,660,862	S175P	possibly damaging	Het
Tinag	T	C	9: 77,045,661	T14A	probably benign	Het
Tmco3	G	A	8: 13,319,605		probably null	Het
Trpm1	G	T	7: 64,209,981	E396*	probably null	Het
Usp47	G	A	7: 112,093,108	E926K	probably benign	Het
Vmn1r233	A	G	17: 20,993,959	I243T	probably damaging	Het
Ythdf3	T	A	3: 16,203,885		probably null	Het
Zfp12	A	G	5: 143,244,689	K289R	probably damaging	Het
Zfp950	T	A	19: 61,119,112	H511L	probably benign	Het

Other mutations in Txndc11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00562:Txndc11	APN	16	11104632	missense	probably damaging	0.96
IGL00563:Txndc11	APN	16	11104632	missense	probably damaging	0.96
IGL02576:Txndc11	APN	16	11075017	unclassified	probably benign
IGL03070:Txndc11	APN	16	11075287	missense	probably damaging	0.97
P0047:Txndc11	UTSW	16	11091797	splice site	probably benign
R0091:Txndc11	UTSW	16	11088104	missense	probably benign
R0448:Txndc11	UTSW	16	11091761	missense	probably damaging	0.99
R0796:Txndc11	UTSW	16	11134474	small deletion	probably benign
R0960:Txndc11	UTSW	16	11091589	missense	probably benign	0.28
R1184:Txndc11	UTSW	16	11128500	missense	probably benign	0.03
R1327:Txndc11	UTSW	16	11116814	missense	possibly damaging	0.86
R1441:Txndc11	UTSW	16	11134550	start gained	probably benign
R1515:Txndc11	UTSW	16	11075062	missense	probably damaging	0.98
R1699:Txndc11	UTSW	16	11087775	critical splice donor site	probably null
R1709:Txndc11	UTSW	16	11128701	nonsense	probably null
R1850:Txndc11	UTSW	16	11088404	missense	probably damaging	0.98
R2026:Txndc11	UTSW	16	11134474	small deletion	probably benign
R3433:Txndc11	UTSW	16	11088188	missense	probably benign
R4468:Txndc11	UTSW	16	11075223	missense	probably benign	0.01
R4469:Txndc11	UTSW	16	11075223	missense	probably benign	0.01
R4652:Txndc11	UTSW	16	11075122	missense	probably benign
R4675:Txndc11	UTSW	16	11084881	missense	possibly damaging	0.65
R4697:Txndc11	UTSW	16	11084314	missense	probably damaging	0.99
R4907:Txndc11	UTSW	16	11088534	missense	probably benign	0.17
R5205:Txndc11	UTSW	16	11128665	missense	probably damaging	0.98
R5273:Txndc11	UTSW	16	11128623	missense	probably benign	0.07
R5865:Txndc11	UTSW	16	11122688	missense	probably damaging	1.00
R5873:Txndc11	UTSW	16	11075205	missense	probably damaging	1.00
R5941:Txndc11	UTSW	16	11075071	missense	probably benign	0.04
R6360:Txndc11	UTSW	16	11084792	missense	probably damaging	1.00
R6894:Txndc11	UTSW	16	11088145	missense	probably damaging	1.00
R7334:Txndc11	UTSW	16	11128561	missense	probably damaging	1.00
R7502:Txndc11	UTSW	16	11087878	missense	probably benign	0.08
R7660:Txndc11	UTSW	16	11087929	missense	probably damaging	1.00
R7677:Txndc11	UTSW	16	11134474	small deletion	probably benign
R7683:Txndc11	UTSW	16	11084235	missense	probably damaging	1.00
R8315:Txndc11	UTSW	16	11075601	missense	possibly damaging	0.70
R9395:Txndc11	UTSW	16	11084819	missense	probably benign	0.03
R9406:Txndc11	UTSW	16	11075634	missense	probably benign	0.45
R9494:Txndc11	UTSW	16	11134292	missense	probably damaging	1.00
X0020:Txndc11	UTSW	16	11084218	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- TGATCATTAACTTCCAGCCCAC -3'
(R):5'- TTGTGGTGGAACATGAGCAG -3'

Sequencing Primer
(F):5'- GATTTCTGAGTTCGAGGCCAACC -3'
(R):5'- CATGAGCAGATTACATGGTGC -3'

Posted On

2019-06-26