Mutagenetix > Incidental Mutation

Incidental Mutation 'R1515:Txndc11'

168248

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

039562-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1515 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11074911-11134650 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11075062 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 935 (S935P)

Ref Sequence

ENSEMBL: ENSMUSP00000041113 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038424] [ENSMUST00000089011] [ENSMUST00000228962]

AlphaFold

Q8K2W3

Predicted Effect

probably damaging
Transcript: ENSMUST00000038424
AA Change: S935P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000041113
Gene: ENSMUSG00000022498
AA Change: S935P

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: ENSMUST00000089011

SMART Domains

Protein: ENSMUSP00000086405
Gene: ENSMUSG00000037972

Domain	Start	End	E-Value	Type
Pfam:SNN_transmemb	1	33	1.8e-28	PFAM
Pfam:SNN_linker	34	59	2.7e-25	PFAM
Pfam:SNN_cytoplasm	61	87	3.2e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148183

Predicted Effect

probably benign
Transcript: ENSMUST00000228962

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt2	A	G	7: 27,637,158	T401A	probably damaging	Het
Arhgap32	G	T	9: 32,116,202	V23L	probably benign	Het
Atmin	T	A	8: 116,954,840	C193S	possibly damaging	Het
Atp13a5	C	T	16: 29,333,974	V225I	probably benign	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
BC024139	A	G	15: 76,124,326	V350A	possibly damaging	Het
Birc6	G	T	17: 74,528,636	E29*	probably null	Het
Bnc2	T	C	4: 84,414,326	N104S	probably null	Het
C030048H21Rik	T	C	2: 26,257,503		probably null	Het
Cd320	G	T	17: 33,847,639	C117F	probably damaging	Het
Cdkal1	A	G	13: 29,326,150	S542P	probably damaging	Het
Crocc	T	C	4: 141,019,737	T1587A	probably benign	Het
Defb41	T	C	1: 18,260,593		probably null	Het
Dmtf1	A	G	5: 9,140,384		probably null	Het
Dnhd1	A	G	7: 105,704,148	N2836S	probably benign	Het
Dpp8	G	A	9: 65,078,748	S840N	probably benign	Het
Dsc2	A	G	18: 20,034,701	F111L	probably damaging	Het
Dsc2	T	A	18: 20,045,565	I261F	probably benign	Het
Ece1	T	C	4: 137,951,508	V509A	probably benign	Het
Ecm2	T	C	13: 49,518,332	M103T	possibly damaging	Het
Emsy	T	C	7: 98,590,856	H1064R	probably damaging	Het
Engase	T	C	11: 118,487,140	V252A	possibly damaging	Het
F13b	A	G	1: 139,510,965	Y369C	probably damaging	Het
Flii	T	C	11: 60,721,606		probably null	Het
Fzd10	T	A	5: 128,602,559	F448I	probably damaging	Het
Gpr35	T	G	1: 92,983,048	F161V	probably damaging	Het
Gprin2	T	C	14: 34,195,273	D180G	possibly damaging	Het
Grik3	A	G	4: 125,670,728	N501S	probably benign	Het
Hells	A	G	19: 38,967,765	K802E	probably damaging	Het
Il1r1	T	A	1: 40,293,349	C96*	probably null	Het
Kcnk16	T	A	14: 20,265,277	I73F	probably damaging	Het
Kcnq5	A	G	1: 21,402,681	S652P	probably benign	Het
Lamc3	A	G	2: 31,940,751	D1500G	probably damaging	Het
Macf1	A	G	4: 123,378,480	F6468L	probably damaging	Het
Mgrn1	T	A	16: 4,915,780	F198I	probably benign	Het
Mmp3	A	G	9: 7,451,232	T323A	probably benign	Het
N4bp2	A	G	5: 65,790,498	Y157C	probably benign	Het
Nfkbid	C	A	7: 30,425,356	H190Q	probably benign	Het
Olfr1474	T	C	19: 13,471,680	S237P	probably damaging	Het
Olfr512	T	C	7: 108,713,941	V184A	possibly damaging	Het
Olfr790	T	C	10: 129,501,591	S236P	probably damaging	Het
Osgin2	C	T	4: 15,998,380	G414D	probably benign	Het
Pkd1	G	A	17: 24,594,853	R4097H	probably benign	Het
Pnkd	T	A	1: 74,349,809	L213Q	probably null	Het
Ppfibp1	A	G	6: 147,027,432	H850R	probably benign	Het
Ppp6r1	T	C	7: 4,643,258	D148G	probably damaging	Het
Ptprt	A	T	2: 162,238,034	S282T	probably damaging	Het
Sgsm3	T	C	15: 81,010,256	V536A	probably benign	Het
Slc22a23	T	A	13: 34,203,964	Q383L	probably benign	Het
Snx29	T	C	16: 11,399,837		probably null	Het
Tmem229b-ps	T	A	10: 53,475,446		noncoding transcript	Het
Tmod4	A	T	3: 95,128,679	Y317F	possibly damaging	Het
Trim13	T	C	14: 61,605,659	M375T	probably benign	Het
Umod	T	C	7: 119,465,497	N592D	probably benign	Het
Vmn2r118	A	G	17: 55,610,643	Y290H	probably benign	Het
Vps26b	A	G	9: 27,012,745	M234T	probably damaging	Het
Zbtb48	A	G	4: 152,020,201		probably null	Het
Zfc3h1	T	A	10: 115,416,742	F1320Y	probably benign	Het
Zfp784	A	T	7: 5,036,040		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
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
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'- GCTACTGCTGTGTCTCAAAGCTACC -3'
(R):5'- AGCTGAGATCTGAGATGAGCAGCC -3'

Sequencing Primer
(F):5'- TGTCTCAAAGCTACCAGTGTG -3'
(R):5'- CAGGCTCTGTATTTAAAGAAGGC -3'

Posted On

2014-04-13