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, EFP1, Txdc11

MMRRC Submission

039562-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R1515 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10892775-10952514 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10892926 bp (GRCm39)

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: 27,336,583 (GRCm39)	T401A	probably damaging	Het
Arhgap32	G	T	9: 32,027,498 (GRCm39)	V23L	probably benign	Het
Atmin	T	A	8: 117,681,579 (GRCm39)	C193S	possibly damaging	Het
Atp13a5	C	T	16: 29,152,792 (GRCm39)	V225I	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
BC024139	A	G	15: 76,008,526 (GRCm39)	V350A	possibly damaging	Het
Birc6	G	T	17: 74,835,631 (GRCm39)	E29*	probably null	Het
Bnc2	T	C	4: 84,332,563 (GRCm39)	N104S	probably null	Het
C030048H21Rik	T	C	2: 26,147,515 (GRCm39)		probably null	Het
Cd320	G	T	17: 34,066,613 (GRCm39)	C117F	probably damaging	Het
Cdkal1	A	G	13: 29,510,133 (GRCm39)	S542P	probably damaging	Het
Crocc	T	C	4: 140,747,048 (GRCm39)	T1587A	probably benign	Het
Defb41	T	C	1: 18,330,817 (GRCm39)		probably null	Het
Dmtf1	A	G	5: 9,190,384 (GRCm39)		probably null	Het
Dnhd1	A	G	7: 105,353,355 (GRCm39)	N2836S	probably benign	Het
Dpp8	G	A	9: 64,986,030 (GRCm39)	S840N	probably benign	Het
Dsc2	A	G	18: 20,167,758 (GRCm39)	F111L	probably damaging	Het
Dsc2	T	A	18: 20,178,622 (GRCm39)	I261F	probably benign	Het
Ece1	T	C	4: 137,678,819 (GRCm39)	V509A	probably benign	Het
Ecm2	T	C	13: 49,671,808 (GRCm39)	M103T	possibly damaging	Het
Emsy	T	C	7: 98,240,063 (GRCm39)	H1064R	probably damaging	Het
Engase	T	C	11: 118,377,966 (GRCm39)	V252A	possibly damaging	Het
F13b	A	G	1: 139,438,703 (GRCm39)	Y369C	probably damaging	Het
Flii	T	C	11: 60,612,432 (GRCm39)		probably null	Het
Fzd10	T	A	5: 128,679,623 (GRCm39)	F448I	probably damaging	Het
Gpr35	T	G	1: 92,910,770 (GRCm39)	F161V	probably damaging	Het
Gprin2	T	C	14: 33,917,230 (GRCm39)	D180G	possibly damaging	Het
Grik3	A	G	4: 125,564,521 (GRCm39)	N501S	probably benign	Het
Hells	A	G	19: 38,956,209 (GRCm39)	K802E	probably damaging	Het
Il1r1	T	A	1: 40,332,509 (GRCm39)	C96*	probably null	Het
Kcnk16	T	A	14: 20,315,345 (GRCm39)	I73F	probably damaging	Het
Kcnq5	A	G	1: 21,472,905 (GRCm39)	S652P	probably benign	Het
Lamc3	A	G	2: 31,830,763 (GRCm39)	D1500G	probably damaging	Het
Macf1	A	G	4: 123,272,273 (GRCm39)	F6468L	probably damaging	Het
Mgrn1	T	A	16: 4,733,644 (GRCm39)	F198I	probably benign	Het
Mmp3	A	G	9: 7,451,232 (GRCm39)	T323A	probably benign	Het
N4bp2	A	G	5: 65,947,841 (GRCm39)	Y157C	probably benign	Het
Nfkbid	C	A	7: 30,124,781 (GRCm39)	H190Q	probably benign	Het
Or10a3m	T	C	7: 108,313,148 (GRCm39)	V184A	possibly damaging	Het
Or5b118	T	C	19: 13,449,044 (GRCm39)	S237P	probably damaging	Het
Or6c75	T	C	10: 129,337,460 (GRCm39)	S236P	probably damaging	Het
Osgin2	C	T	4: 15,998,380 (GRCm39)	G414D	probably benign	Het
Pkd1	G	A	17: 24,813,827 (GRCm39)	R4097H	probably benign	Het
Pnkd	T	A	1: 74,388,968 (GRCm39)	L213Q	probably null	Het
Ppfibp1	A	G	6: 146,928,930 (GRCm39)	H850R	probably benign	Het
Ppp6r1	T	C	7: 4,646,257 (GRCm39)	D148G	probably damaging	Het
Ptprt	A	T	2: 162,079,954 (GRCm39)	S282T	probably damaging	Het
Sgsm3	T	C	15: 80,894,457 (GRCm39)	V536A	probably benign	Het
Slc22a23	T	A	13: 34,387,947 (GRCm39)	Q383L	probably benign	Het
Snx29	T	C	16: 11,217,701 (GRCm39)		probably null	Het
Tmem229b-ps	T	A	10: 53,351,542 (GRCm39)		noncoding transcript	Het
Tmod4	A	T	3: 95,035,990 (GRCm39)	Y317F	possibly damaging	Het
Trim13	T	C	14: 61,843,108 (GRCm39)	M375T	probably benign	Het
Umod	T	C	7: 119,064,720 (GRCm39)	N592D	probably benign	Het
Vmn2r118	A	G	17: 55,917,643 (GRCm39)	Y290H	probably benign	Het
Vps26b	A	G	9: 26,924,041 (GRCm39)	M234T	probably damaging	Het
Zbtb48	A	G	4: 152,104,658 (GRCm39)		probably null	Het
Zfc3h1	T	A	10: 115,252,647 (GRCm39)	F1320Y	probably benign	Het
Zfp784	A	T	7: 5,039,039 (GRCm39)		probably benign	Het

Other mutations in Txndc11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00562:Txndc11	APN	16	10,922,496 (GRCm39)	missense	probably damaging	0.96
IGL00563:Txndc11	APN	16	10,922,496 (GRCm39)	missense	probably damaging	0.96
IGL02576:Txndc11	APN	16	10,892,881 (GRCm39)	unclassified	probably benign
IGL03070:Txndc11	APN	16	10,893,151 (GRCm39)	missense	probably damaging	0.97
P0047:Txndc11	UTSW	16	10,909,661 (GRCm39)	splice site	probably benign
R0091:Txndc11	UTSW	16	10,905,968 (GRCm39)	missense	probably benign
R0448:Txndc11	UTSW	16	10,909,625 (GRCm39)	missense	probably damaging	0.99
R0796:Txndc11	UTSW	16	10,952,338 (GRCm39)	small deletion	probably benign
R0960:Txndc11	UTSW	16	10,909,453 (GRCm39)	missense	probably benign	0.28
R1184:Txndc11	UTSW	16	10,946,364 (GRCm39)	missense	probably benign	0.03
R1327:Txndc11	UTSW	16	10,934,678 (GRCm39)	missense	possibly damaging	0.86
R1441:Txndc11	UTSW	16	10,952,414 (GRCm39)	start gained	probably benign
R1699:Txndc11	UTSW	16	10,905,639 (GRCm39)	critical splice donor site	probably null
R1709:Txndc11	UTSW	16	10,946,565 (GRCm39)	nonsense	probably null
R1850:Txndc11	UTSW	16	10,906,268 (GRCm39)	missense	probably damaging	0.98
R2026:Txndc11	UTSW	16	10,952,338 (GRCm39)	small deletion	probably benign
R3433:Txndc11	UTSW	16	10,906,052 (GRCm39)	missense	probably benign
R4468:Txndc11	UTSW	16	10,893,087 (GRCm39)	missense	probably benign	0.01
R4469:Txndc11	UTSW	16	10,893,087 (GRCm39)	missense	probably benign	0.01
R4652:Txndc11	UTSW	16	10,892,986 (GRCm39)	missense	probably benign
R4675:Txndc11	UTSW	16	10,902,745 (GRCm39)	missense	possibly damaging	0.65
R4697:Txndc11	UTSW	16	10,902,178 (GRCm39)	missense	probably damaging	0.99
R4907:Txndc11	UTSW	16	10,906,398 (GRCm39)	missense	probably benign	0.17
R5205:Txndc11	UTSW	16	10,946,529 (GRCm39)	missense	probably damaging	0.98
R5273:Txndc11	UTSW	16	10,946,487 (GRCm39)	missense	probably benign	0.07
R5865:Txndc11	UTSW	16	10,940,552 (GRCm39)	missense	probably damaging	1.00
R5873:Txndc11	UTSW	16	10,893,069 (GRCm39)	missense	probably damaging	1.00
R5941:Txndc11	UTSW	16	10,892,935 (GRCm39)	missense	probably benign	0.04
R6360:Txndc11	UTSW	16	10,902,656 (GRCm39)	missense	probably damaging	1.00
R6894:Txndc11	UTSW	16	10,906,009 (GRCm39)	missense	probably damaging	1.00
R7285:Txndc11	UTSW	16	10,902,163 (GRCm39)	missense	probably damaging	0.98
R7334:Txndc11	UTSW	16	10,946,425 (GRCm39)	missense	probably damaging	1.00
R7502:Txndc11	UTSW	16	10,905,742 (GRCm39)	missense	probably benign	0.08
R7660:Txndc11	UTSW	16	10,905,793 (GRCm39)	missense	probably damaging	1.00
R7677:Txndc11	UTSW	16	10,952,338 (GRCm39)	small deletion	probably benign
R7683:Txndc11	UTSW	16	10,902,099 (GRCm39)	missense	probably damaging	1.00
R8315:Txndc11	UTSW	16	10,893,465 (GRCm39)	missense	possibly damaging	0.70
R9395:Txndc11	UTSW	16	10,902,683 (GRCm39)	missense	probably benign	0.03
R9406:Txndc11	UTSW	16	10,893,498 (GRCm39)	missense	probably benign	0.45
R9494:Txndc11	UTSW	16	10,952,156 (GRCm39)	missense	probably damaging	1.00
X0020:Txndc11	UTSW	16	10,902,082 (GRCm39)	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