Mutagenetix > Incidental Mutation

Incidental Mutation 'R1850:Txndc11'

208030

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

039874-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R1850 (G1)

Quality Score

150

Status

Validated

Chromosome

Chromosomal Location

11074911-11134650 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11088404 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 421 (N421D)

Ref Sequence

ENSEMBL: ENSMUSP00000113432 (fasta)

Gene Model

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

AlphaFold

Q8K2W3

Predicted Effect

probably damaging
Transcript: ENSMUST00000038424
AA Change: N421D

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000041113
Gene: ENSMUSG00000022498
AA Change: N421D

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 damaging
Transcript: ENSMUST00000118362
AA Change: N421D

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113432
Gene: ENSMUSG00000022498
AA Change: N421D

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

noncoding transcript
Transcript: ENSMUST00000131012

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146081

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148183

Meta Mutation Damage Score

0.1092

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.8%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4430402I18Rik	T	C	19: 28,939,171		probably null	Het
6030419C18Rik	A	T	9: 58,499,109	M101L	probably benign	Het
Adam28	T	A	14: 68,639,195	Q202L	probably benign	Het
Adgb	C	A	10: 10,442,502	V199F	probably damaging	Het
Aff1	G	T	5: 103,833,907	R645S	probably damaging	Het
Aoc1	C	T	6: 48,905,268	S48F	probably benign	Het
Atf6	A	T	1: 170,819,286	N339K	probably damaging	Het
Bpifb3	C	G	2: 153,929,344	S392C	possibly damaging	Het
Camk1d	T	C	2: 5,362,015	M130V	probably benign	Het
Ces1a	T	A	8: 93,027,326	N350Y	probably damaging	Het
Cfap57	G	A	4: 118,599,894	R453C	probably damaging	Het
Chd4	T	A	6: 125,121,656	N1532K	probably damaging	Het
Chd5	T	C	4: 152,370,533	L824P	probably damaging	Het
Ckap5	G	A	2: 91,595,713	R1306H	probably damaging	Het
Crybg1	A	G	10: 43,997,674	F1146S	probably damaging	Het
Dusp12	G	A	1: 170,880,629	T173M	probably benign	Het
Dync2h1	T	C	9: 7,001,448	T3854A	probably benign	Het
Echdc1	A	T	10: 29,344,603	I252F	probably damaging	Het
Emc1	A	T	4: 139,359,373		probably benign	Het
Fbn2	C	A	18: 58,039,305		probably benign	Het
Fsip2	T	A	2: 82,984,589	N3555K	possibly damaging	Het
Gabra1	T	A	11: 42,179,576	T20S	probably benign	Het
H2afy	T	C	13: 56,096,239		probably benign	Het
Igf1	A	C	10: 87,861,374	T2P	possibly damaging	Het
Jcad	C	A	18: 4,675,730	T1164N	possibly damaging	Het
Kalrn	A	T	16: 33,975,923	S2830T	probably damaging	Het
Lepr	C	A	4: 101,733,423	A66E	possibly damaging	Het
Lmntd1	T	A	6: 145,413,480	M315L	probably benign	Het
Lrch3	A	G	16: 32,986,793	T479A	probably benign	Het
Matr3	A	G	18: 35,582,057	N237D	probably damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Mtif2	A	G	11: 29,540,683	I462M	probably benign	Het
Nrip1	T	C	16: 76,293,344	I442V	probably damaging	Het
Olfr1082	A	T	2: 86,594,104	C241*	probably null	Het
Olfr1415	T	A	1: 92,491,402	M118L	possibly damaging	Het
Olfr741	G	A	14: 50,485,598	A47T	probably benign	Het
Otogl	T	A	10: 107,878,064	Y498F	probably damaging	Het
Pbx3	A	T	2: 34,176,820	F351I	probably benign	Het
Pcdh18	T	C	3: 49,756,405	T154A	probably benign	Het
Pex5l	A	T	3: 32,950,876		probably null	Het
Plec	T	C	15: 76,188,232	I718V	probably benign	Het
Pparg	T	A	6: 115,450,980	Y143N	probably damaging	Het
Prl2c5	A	G	13: 13,185,792	I12V	probably benign	Het
Rcor3	T	A	1: 192,120,111	Q246L	probably benign	Het
Rnf214	A	T	9: 45,869,448		probably benign	Het
S1pr5	A	T	9: 21,244,129	S334T	probably benign	Het
Scg3	C	T	9: 75,682,167	S35N	possibly damaging	Het
Sept5	A	T	16: 18,625,210	L19Q	probably damaging	Het
Serpinb7	T	C	1: 107,428,295	F16S	probably damaging	Het
Sipa1l3	A	T	7: 29,339,126	S365R	probably damaging	Het
Slc27a1	T	C	8: 71,580,703		probably null	Het
Slc2a10	C	A	2: 165,515,213	H264Q	probably benign	Het
Slc9a3	A	G	13: 74,161,770	I526V	probably benign	Het
Smchd1	T	C	17: 71,389,771	D1203G	probably damaging	Het
Sult1b1	A	G	5: 87,520,841	W181R	probably damaging	Het
Supt6	A	G	11: 78,219,877		probably benign	Het
Tcf12	C	A	9: 71,868,215	A418S	probably damaging	Het
Tesk1	C	T	4: 43,443,576	R48C	probably damaging	Het
Tiam2	A	G	17: 3,437,235	Q677R	probably damaging	Het
Tspan8	C	T	10: 115,833,225	A55V	probably damaging	Het
Vmn1r201	A	G	13: 22,474,631	N5S	probably benign	Het
Vmn2r120	T	A	17: 57,525,826	I118L	probably benign	Het
Vps13b	A	T	15: 35,674,959		probably benign	Het
Wdfy3	A	G	5: 101,894,999	V1962A	probably damaging	Het
Zswim8	C	T	14: 20,710,747	R107*	probably null	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
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
R7285:Txndc11	UTSW	16	11084299	missense	probably damaging	0.98
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'- AAAAGTCTGCTCCTTGAGGTAG -3'
(R):5'- GAGCTGCCATTTTCCACATC -3'

Sequencing Primer
(F):5'- CTGCTCCTTGAGGTAGAAAGAATCC -3'
(R):5'- TTCCACATCCATAAAATTTGGGCC -3'

Posted On

2014-06-23