Mutagenetix > Incidental Mutation

Incidental Mutation 'R4697:Txndc11'

355799

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

041947-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4697 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11074911-11134650 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 11084314 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 679 (V679I)

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: V679I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041113
Gene: ENSMUSG00000022498
AA Change: V679I

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

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

0.6015

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

96% (75/78)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	A	7: 118,791,448	I455N	probably damaging	Het
A2m	T	C	6: 121,638,284	M1T	probably null	Het
Aatf	T	A	11: 84,449,138	D449V	probably damaging	Het
Acbd3	T	A	1: 180,721,944		probably benign	Het
BC005561	A	G	5: 104,522,240	K1543E	probably benign	Het
Bicc1	T	A	10: 70,953,484	I366F	possibly damaging	Het
Ccdc74a	T	C	16: 17,649,749	S184P	possibly damaging	Het
Cntn4	T	C	6: 106,525,485	V401A	probably damaging	Het
Cux2	T	C	5: 121,873,753	T540A	probably damaging	Het
Disp2	G	T	2: 118,791,684	E966*	probably null	Het
Dpp7	A	G	2: 25,354,919	Y209H	probably benign	Het
Dstyk	T	A	1: 132,449,487	F277Y	probably damaging	Het
Dtx1	A	T	5: 120,694,408		probably null	Het
Ear-ps2	G	A	14: 44,047,060		noncoding transcript	Het
Ednra	T	C	8: 77,664,995	H422R	probably benign	Het
Erlec1	T	A	11: 30,952,640	I67F	probably benign	Het
Fam161b	G	A	12: 84,348,558		probably benign	Het
Gata5	A	T	2: 180,327,379	C345*	probably null	Het
Glmp	T	C	3: 88,328,274	V47A	probably damaging	Het
Gm9762	T	A	3: 78,966,550		noncoding transcript	Het
Gnas	A	T	2: 174,298,080	D14V	probably damaging	Het
Gnl3	T	C	14: 31,017,329	S53G	probably damaging	Het
Grhl3	C	T	4: 135,548,466	V527M	probably damaging	Het
Hoxd10	T	A	2: 74,694,187	L281*	probably null	Het
Kif16b	T	G	2: 142,690,694	Y1175S	probably benign	Het
Kif2b	A	G	11: 91,576,846	S204P	probably benign	Het
Klhl40	T	A	9: 121,778,734	I320N	probably damaging	Het
Ksr2	G	A	5: 117,708,147	R693Q	probably damaging	Het
Mis12	A	G	11: 71,025,326	K62E	possibly damaging	Het
Mlc1	A	G	15: 88,974,777	C102R	probably damaging	Het
Muc5b	T	C	7: 141,857,361	I1348T	unknown	Het
Myh7b	A	G	2: 155,629,322	E1130G	probably damaging	Het
Nat8f4	T	C	6: 85,901,386	T52A	probably benign	Het
Nxpe2	C	A	9: 48,320,521	V379L	probably benign	Het
Olfr1231	C	A	2: 89,302,902	S230I	possibly damaging	Het
Olfr1231	T	A	2: 89,302,903	S230C	probably damaging	Het
Olfr1448	C	T	19: 12,919,934	C125Y	probably damaging	Het
Olfr1465	A	T	19: 13,313,717	D189E	probably benign	Het
Olfr288	G	A	15: 98,186,868	R310W	probably damaging	Het
Pcdhga7	A	T	18: 37,717,208	Y756F	probably damaging	Het
Pcsk6	T	A	7: 65,959,241	Y284N	probably damaging	Het
Pdcd11	T	C	19: 47,126,347	V1367A	possibly damaging	Het
Postn	T	A	3: 54,375,071	N484K	probably damaging	Het
Prkd3	C	T	17: 78,961,171	V572I	probably benign	Het
Qser1	T	C	2: 104,787,183	S1005G	probably benign	Het
Radil	G	T	5: 142,486,801	D951E	probably benign	Het
Ripk1	C	T	13: 34,027,942	R352*	probably null	Het
Sacs	T	C	14: 61,212,747	F4081L	probably benign	Het
Sbf1	A	G	15: 89,315,085	V11A	possibly damaging	Het
Sgip1	T	A	4: 102,934,587	F536I	probably damaging	Het
Slc45a1	A	G	4: 150,638,284	L381P	probably damaging	Het
Smarcad1	C	T	6: 65,052,641	P71L	probably benign	Het
Spns1	T	A	7: 126,377,037	D14V	probably damaging	Het
Sv2c	T	A	13: 95,986,018	I417F	possibly damaging	Het
Tas2r113	T	A	6: 132,893,516	M169K	probably benign	Het
Tgm1	A	T	14: 55,705,681	N567K	probably benign	Het
Tln2	C	T	9: 67,395,461	R76Q	probably damaging	Het
Trpm6	T	C	19: 18,853,791	V1340A	probably benign	Het
Tspan18	A	T	2: 93,312,030		probably null	Het
Usf1	G	T	1: 171,416,964	G144V	possibly damaging	Het
Vmn1r59	T	C	7: 5,454,452	Y103C	probably damaging	Het
Vmn2r23	A	T	6: 123,741,826	I713F	probably damaging	Het
Vmn2r79	A	T	7: 87,037,960	I850F	probably damaging	Het
Wdr90	C	T	17: 25,855,363	R676H	probably benign	Het
Zfp867	G	A	11: 59,463,661	R281W	probably damaging	Het
Zfp939	T	C	7: 39,472,942		noncoding transcript	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
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'- TGATCATTAACTTCCAGCCCAC -3'
(R):5'- TTGTGGTGGAACATGAGCAG -3'

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

Posted On

2015-10-21