Mutagenetix > Incidental Mutation

Incidental Mutation 'R5873:Txndc11'

455341

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

044080-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R5873 (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 11075205 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 887 (L887P)

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: L887P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041113
Gene: ENSMUSG00000022498
AA Change: L887P

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: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,630,167		probably null	Het
4930505A04Rik	T	A	11: 30,426,220	K216*	probably null	Het
5330417H12Rik	T	C	7: 107,624,768		probably benign	Het
Abcc4	G	T	14: 118,526,290	D1044E	probably benign	Het
Adgre4	A	G	17: 55,852,282	T656A	probably benign	Het
Ankk1	T	C	9: 49,415,896	N661S	probably benign	Het
Asah2	A	G	19: 32,003,682		probably null	Het
Asxl3	A	G	18: 22,516,085	D377G	probably benign	Het
C3ar1	A	G	6: 122,850,422	S279P	probably benign	Het
C7	A	G	15: 5,005,235	V610A	probably damaging	Het
Cacna2d3	C	A	14: 29,720,934	A48S	probably benign	Het
Card11	T	A	5: 140,908,638	I79F	probably damaging	Het
Casc3	A	G	11: 98,821,444	Y103C	unknown	Het
Cass4	G	T	2: 172,426,768	V259L	probably benign	Het
Col14a1	A	G	15: 55,445,786		probably benign	Het
Cox10	A	G	11: 64,071,686	S110P	probably benign	Het
Cpt1b	T	C	15: 89,420,728	Y439C	probably damaging	Het
Crybb2	C	T	5: 113,065,893		probably null	Het
Cyp2b23	C	T	7: 26,675,006	R271H	probably benign	Het
Dnah17	T	C	11: 118,056,897	I3039V	probably benign	Het
Dnpep	T	C	1: 75,315,143	D242G	probably damaging	Het
Dock10	T	A	1: 80,574,138	N660I	probably damaging	Het
Esco2	T	C	14: 65,824,191	D471G	probably benign	Het
Evpl	A	T	11: 116,234,432	L97H	probably damaging	Het
Exoc3l4	A	T	12: 111,423,416	I142F	probably damaging	Het
Fry	C	A	5: 150,378,885	P519Q	probably damaging	Het
Gal3st2	T	A	1: 93,873,750	F92I	probably benign	Het
Galm	A	G	17: 80,138,103	E94G	probably benign	Het
Gfy	T	G	7: 45,177,580	H364P	probably damaging	Het
Helz2	A	G	2: 181,234,028	S1558P	possibly damaging	Het
Hmmr	T	A	11: 40,707,700	Q600L	probably damaging	Het
Hnrnph3	A	G	10: 63,019,391		probably null	Het
Igkv4-90	T	A	6: 68,807,469	N21I	probably benign	Het
Kpna1	A	G	16: 36,014,228		probably benign	Het
Krt28	A	C	11: 99,366,890	L375R	probably damaging	Het
Lrrn1	T	C	6: 107,568,975	V578A	probably damaging	Het
Lta4h	T	C	10: 93,469,190		probably null	Het
Matk	T	A	10: 81,260,129	V166E	probably benign	Het
Muc4	C	A	16: 32,751,295	T391K	possibly damaging	Het
Mybl1	T	A	1: 9,685,665	T220S	possibly damaging	Het
Nrp1	T	C	8: 128,468,377	V438A	probably damaging	Het
Olfr1371	A	T	11: 52,213,353	L212Q	probably damaging	Het
Olfr414	T	A	1: 174,430,782	M118K	possibly damaging	Het
Pdia4	A	T	6: 47,808,176	W86R	probably damaging	Het
Pdzd7	T	A	19: 45,027,949	D911V	probably damaging	Het
Pkd1	A	G	17: 24,569,830	Q854R	probably benign	Het
Ppl	A	G	16: 5,106,049		probably null	Het
Ppp1r26	A	G	2: 28,451,605	T416A	probably benign	Het
Prdm15	T	C	16: 97,808,689	D585G	probably damaging	Het
Rbak	A	G	5: 143,173,711	V529A	probably benign	Het
Rc3h1	C	T	1: 160,959,501	T822I	probably damaging	Het
Slc25a18	A	T	6: 120,786,281		probably null	Het
Taf2	T	C	15: 55,038,422	N792S	probably benign	Het
Tat	T	C	8: 109,991,949		probably null	Het
Tbx21	A	T	11: 97,114,648		probably null	Het
Usp10	A	G	8: 119,947,092	T399A	possibly damaging	Het
Vmn2r26	A	T	6: 124,061,674	H736L	probably benign	Het
Vstm2a	T	A	11: 16,258,044	F13I	probably damaging	Het
Zkscan5	A	G	5: 145,220,394	R496G	possibly damaging	Het
Zranb2	C	T	3: 157,536,383	R36*	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
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
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'- GCTTCGTCTCTGAAGCCAAAG -3'
(R):5'- TCTGAGATGAGCAGCCTACG -3'

Sequencing Primer
(F):5'- TTCGTCTCTGAAGCCAAAGTGGAG -3'
(R):5'- TACGCCGTACACAGGAGCAG -3'

Posted On

2017-02-10