Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01082:Trim33'

50713

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trim33

Ensembl Gene

ENSMUSG00000033014

Gene Name

tripartite motif-containing 33

Synonyms

8030451N04Rik, ectodermin, Ecto, Tif1g

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01082

Quality Score

Status

Chromosome

Chromosomal Location

103186609-103266086 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103234175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 471 (I471T)

Ref Sequence

ENSEMBL: ENSMUSP00000029444 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029444] [ENSMUST00000106860] [ENSMUST00000198706]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029444
AA Change: I471T

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000029444
Gene: ENSMUSG00000033014
AA Change: I471T

Domain	Start	End	E-Value	Type
low complexity region	6	31	N/A	INTRINSIC
low complexity region	33	134	N/A	INTRINSIC
PHD	138	199	9.85e0	SMART
RING	139	198	2.12e-8	SMART
BBOX	226	273	1.24e-9	SMART
RING	231	293	2.01e0	SMART
BBOX	285	326	1.54e-10	SMART
BBC	333	459	7.55e-45	SMART
low complexity region	540	583	N/A	INTRINSIC
low complexity region	731	773	N/A	INTRINSIC
low complexity region	820	837	N/A	INTRINSIC
PHD	902	945	4.15e-11	SMART
BROMO	972	1095	3.74e-30	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106860
AA Change: I471T

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102473
Gene: ENSMUSG00000033014
AA Change: I471T

Domain	Start	End	E-Value	Type
low complexity region	6	31	N/A	INTRINSIC
low complexity region	33	134	N/A	INTRINSIC
PHD	138	199	9.85e0	SMART
RING	139	198	2.12e-8	SMART
BBOX	226	273	1.24e-9	SMART
RING	231	293	2.01e0	SMART
BBOX	285	326	1.54e-10	SMART
BBC	333	459	7.55e-45	SMART
low complexity region	540	583	N/A	INTRINSIC
low complexity region	731	773	N/A	INTRINSIC
low complexity region	820	837	N/A	INTRINSIC
PHD	902	945	4.15e-11	SMART
BROMO	972	1078	3.52e-35	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196678

Predicted Effect

unknown
Transcript: ENSMUST00000197779
AA Change: I135T

Predicted Effect

probably benign
Transcript: ENSMUST00000198706
AA Change: I42T

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000142585
Gene: ENSMUSG00000033014
AA Change: I42T

Domain	Start	End	E-Value	Type
Blast:BBC	1	30	9e-11	BLAST
low complexity region	111	154	N/A	INTRINSIC
low complexity region	302	344	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198969

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to be a transcriptional corepressor. However, molecules that interact with this protein have not yet been identified. The protein is a member of the tripartite motif family. This motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. Three alternatively spliced transcript variants for this gene have been described, however, the full-length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E9.5 with abnormal embryonic development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	A	1: 71,353,273 (GRCm39)	S723F	probably damaging	Het
Cacng5	C	T	11: 107,772,531 (GRCm39)	V106I	probably benign	Het
Ccdc116	A	G	16: 16,959,856 (GRCm39)	S278P	probably damaging	Het
Cep152	A	T	2: 125,411,465 (GRCm39)		probably benign	Het
Cftr	T	C	6: 18,226,102 (GRCm39)	V350A	probably damaging	Het
Dsc2	A	T	18: 20,176,849 (GRCm39)	N399K	probably damaging	Het
Eif3d	T	C	15: 77,843,943 (GRCm39)	T468A	probably damaging	Het
Fam110b	C	T	4: 5,799,461 (GRCm39)	A293V	possibly damaging	Het
Flrt1	T	C	19: 7,073,339 (GRCm39)	T403A	probably benign	Het
H3c6	A	G	13: 23,746,548 (GRCm39)		probably benign	Het
Ift140	T	A	17: 25,267,429 (GRCm39)	V609E	possibly damaging	Het
Klb	G	A	5: 65,533,283 (GRCm39)	V531I	possibly damaging	Het
Krt73	T	C	15: 101,707,372 (GRCm39)		probably null	Het
Mcm2	A	G	6: 88,864,859 (GRCm39)	V539A	probably benign	Het
Myb	A	G	10: 21,028,843 (GRCm39)	V85A	probably damaging	Het
Ndufs1	T	C	1: 63,203,976 (GRCm39)	E102G	probably damaging	Het
Nr5a2	C	A	1: 136,773,206 (GRCm39)	A499S	probably benign	Het
Opa1	A	T	16: 29,436,933 (GRCm39)		probably benign	Het
Or14j5	T	A	17: 38,161,514 (GRCm39)	S10R	probably benign	Het
Or4a47	A	T	2: 89,674,407 (GRCm39)		probably benign	Het
Or4c11b	T	C	2: 88,625,637 (GRCm39)	F304L	probably benign	Het
Pcnx1	G	A	12: 82,037,372 (GRCm39)	E1877K	possibly damaging	Het
Sel1l	A	G	12: 91,778,682 (GRCm39)	V711A	probably benign	Het
Slc22a16	A	G	10: 40,449,860 (GRCm39)	T120A	probably benign	Het
Slc26a1	G	T	5: 108,819,744 (GRCm39)	T485N	possibly damaging	Het
Sp100	T	C	1: 85,597,741 (GRCm39)	V201A	possibly damaging	Het
Spz1	T	G	13: 92,712,029 (GRCm39)	K149T	probably damaging	Het
Stxbp5l	A	G	16: 37,024,940 (GRCm39)	S553P	possibly damaging	Het
Szt2	A	G	4: 118,254,821 (GRCm39)	S290P	probably damaging	Het
Tbc1d10c	A	G	19: 4,239,026 (GRCm39)	Y165H	probably damaging	Het
Tnxb	C	A	17: 34,933,584 (GRCm39)	Q2335K	probably damaging	Het
Vsig10	A	G	5: 117,472,970 (GRCm39)	I188V	probably benign	Het
Zfp109	A	T	7: 23,933,784 (GRCm39)	L45Q	probably damaging	Het

Other mutations in Trim33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Trim33	APN	3	103,237,498 (GRCm39)	missense	probably benign	0.44
IGL00981:Trim33	APN	3	103,259,311 (GRCm39)	splice site	probably benign
IGL01010:Trim33	APN	3	103,254,031 (GRCm39)	nonsense	probably null
IGL01025:Trim33	APN	3	103,261,234 (GRCm39)	utr 3 prime	probably benign
IGL02245:Trim33	APN	3	103,254,086 (GRCm39)	critical splice donor site	probably null
IGL02291:Trim33	APN	3	103,234,181 (GRCm39)	missense	probably damaging	1.00
IGL03248:Trim33	APN	3	103,218,289 (GRCm39)	unclassified	probably benign
IGL03400:Trim33	APN	3	103,236,459 (GRCm39)	missense	probably damaging	0.99
abilene	UTSW	3	103,228,875 (GRCm39)	missense	probably damaging	0.99
Bemoaned	UTSW	3	103,234,109 (GRCm39)	missense	possibly damaging	0.92
Excision	UTSW	3	103,251,892 (GRCm39)	missense	probably damaging	1.00
Peaked	UTSW	3	103,244,848 (GRCm39)	critical splice donor site	probably null
Pike	UTSW	3	103,218,201 (GRCm39)	missense	probably damaging	0.98
westworld	UTSW	3	103,234,217 (GRCm39)	missense	possibly damaging	0.46
R0143:Trim33	UTSW	3	103,259,417 (GRCm39)	missense	probably benign	0.00
R0471:Trim33	UTSW	3	103,234,217 (GRCm39)	missense	possibly damaging	0.46
R0513:Trim33	UTSW	3	103,217,700 (GRCm39)	missense	probably damaging	1.00
R0573:Trim33	UTSW	3	103,259,306 (GRCm39)	splice site	probably benign
R0586:Trim33	UTSW	3	103,217,660 (GRCm39)	missense	probably damaging	0.99
R1103:Trim33	UTSW	3	103,218,201 (GRCm39)	missense	probably damaging	0.98
R1157:Trim33	UTSW	3	103,261,146 (GRCm39)	missense	probably damaging	1.00
R1328:Trim33	UTSW	3	103,260,913 (GRCm39)	missense	possibly damaging	0.86
R1331:Trim33	UTSW	3	103,217,670 (GRCm39)	missense	probably damaging	0.99
R1385:Trim33	UTSW	3	103,218,266 (GRCm39)	missense	possibly damaging	0.46
R1397:Trim33	UTSW	3	103,217,750 (GRCm39)	unclassified	probably benign
R1785:Trim33	UTSW	3	103,236,536 (GRCm39)	frame shift	probably null
R1848:Trim33	UTSW	3	103,231,956 (GRCm39)	unclassified	probably benign
R1903:Trim33	UTSW	3	103,244,760 (GRCm39)	missense	probably damaging	1.00
R3404:Trim33	UTSW	3	103,228,875 (GRCm39)	missense	probably damaging	0.99
R3878:Trim33	UTSW	3	103,259,321 (GRCm39)	missense	probably damaging	1.00
R4156:Trim33	UTSW	3	103,217,630 (GRCm39)	missense	possibly damaging	0.94
R4281:Trim33	UTSW	3	103,236,402 (GRCm39)	missense	probably damaging	0.99
R4570:Trim33	UTSW	3	103,237,481 (GRCm39)	missense	probably damaging	0.96
R4809:Trim33	UTSW	3	103,236,572 (GRCm39)	missense	possibly damaging	0.91
R4904:Trim33	UTSW	3	103,238,963 (GRCm39)	missense	possibly damaging	0.46
R5168:Trim33	UTSW	3	103,248,997 (GRCm39)	nonsense	probably null
R5458:Trim33	UTSW	3	103,237,496 (GRCm39)	missense	possibly damaging	0.64
R5910:Trim33	UTSW	3	103,251,892 (GRCm39)	missense	probably damaging	1.00
R6195:Trim33	UTSW	3	103,244,848 (GRCm39)	critical splice donor site	probably null
R6331:Trim33	UTSW	3	103,248,925 (GRCm39)	missense	probably benign	0.00
R6636:Trim33	UTSW	3	103,261,035 (GRCm39)	missense	probably damaging	1.00
R6642:Trim33	UTSW	3	103,244,830 (GRCm39)	missense	probably damaging	0.99
R6783:Trim33	UTSW	3	103,259,403 (GRCm39)	missense	probably damaging	1.00
R6856:Trim33	UTSW	3	103,259,365 (GRCm39)	missense	probably damaging	0.97
R7220:Trim33	UTSW	3	103,234,109 (GRCm39)	missense	possibly damaging	0.92
R7325:Trim33	UTSW	3	103,228,952 (GRCm39)	missense	possibly damaging	0.93
R7374:Trim33	UTSW	3	103,217,639 (GRCm39)	missense	probably damaging	0.98
R7430:Trim33	UTSW	3	103,218,219 (GRCm39)	missense	possibly damaging	0.92
R7438:Trim33	UTSW	3	103,253,956 (GRCm39)	splice site	probably benign
R7491:Trim33	UTSW	3	103,233,464 (GRCm39)	missense	probably benign	0.28
R8001:Trim33	UTSW	3	103,218,831 (GRCm39)	critical splice donor site	probably null
R8127:Trim33	UTSW	3	103,239,043 (GRCm39)	missense	possibly damaging	0.66
R8326:Trim33	UTSW	3	103,218,770 (GRCm39)	nonsense	probably null
R8334:Trim33	UTSW	3	103,261,145 (GRCm39)	missense	probably benign	0.06
R8813:Trim33	UTSW	3	103,254,052 (GRCm39)	missense	probably benign	0.01
R8828:Trim33	UTSW	3	103,236,392 (GRCm39)	missense	probably damaging	0.97
R8894:Trim33	UTSW	3	103,218,807 (GRCm39)	missense	probably damaging	1.00
R9239:Trim33	UTSW	3	103,237,453 (GRCm39)	missense	probably benign	0.08
R9433:Trim33	UTSW	3	103,228,979 (GRCm39)	critical splice donor site	probably null
R9495:Trim33	UTSW	3	103,239,074 (GRCm39)	missense	probably benign	0.17
R9514:Trim33	UTSW	3	103,239,074 (GRCm39)	missense	probably benign	0.17
R9564:Trim33	UTSW	3	103,238,965 (GRCm39)	missense	probably benign	0.28
R9595:Trim33	UTSW	3	103,259,350 (GRCm39)	missense	probably damaging	1.00
R9722:Trim33	UTSW	3	103,261,146 (GRCm39)	missense	possibly damaging	0.55
R9784:Trim33	UTSW	3	103,244,823 (GRCm39)	missense	possibly damaging	0.66
RF005:Trim33	UTSW	3	103,187,528 (GRCm39)	frame shift	probably null
RF007:Trim33	UTSW	3	103,187,533 (GRCm39)	small deletion	probably benign
RF014:Trim33	UTSW	3	103,236,408 (GRCm39)	missense	possibly damaging	0.94
RF061:Trim33	UTSW	3	103,187,533 (GRCm39)	small deletion	probably benign
RF064:Trim33	UTSW	3	103,187,511 (GRCm39)	frame shift	probably null
Z1176:Trim33	UTSW	3	103,261,043 (GRCm39)	missense	probably benign	0.00

Posted On

2013-06-21