Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02291:Trim33'

290333

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trim33

Ensembl Gene

ENSMUSG00000033014

Gene Name

tripartite motif-containing 33

Synonyms

ectodermin, Ecto, 8030451N04Rik, Tif1g

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02291

Quality Score

Status

Chromosome

Chromosomal Location

103279293-103358775 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103326865 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 473 (F473S)

Ref Sequence

ENSEMBL: ENSMUSP00000102473 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000029444
AA Change: F473S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029444
Gene: ENSMUSG00000033014
AA Change: F473S

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

probably damaging
Transcript: ENSMUST00000106860
AA Change: F473S

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

SMART Domains

Protein: ENSMUSP00000102473
Gene: ENSMUSG00000033014
AA Change: F473S

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: F137S

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198706
AA Change: F44S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000142585
Gene: ENSMUSG00000033014
AA Change: F44S

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AF366264	T	A	8: 13,837,704	N129I	probably benign	Het
Arhgap10	T	A	8: 77,382,715		probably benign	Het
Cfap161	C	T	7: 83,791,639	G135D	probably benign	Het
Cpne1	A	G	2: 156,078,420	V179A	probably damaging	Het
Cpsf1	A	T	15: 76,602,821	I219N	probably damaging	Het
Creb3l4	T	G	3: 90,241,983	R139S	probably benign	Het
Fer1l4	T	C	2: 156,019,538	K1929E	probably damaging	Het
Gm5431	A	G	11: 48,888,964	L655P	probably damaging	Het
Igsf3	T	G	3: 101,439,529	H613Q	probably damaging	Het
Kcnab1	T	C	3: 65,357,082	Y251H	possibly damaging	Het
Kmt2d	T	C	15: 98,865,492		probably benign	Het
Krt17	A	T	11: 100,256,493	V404E	probably benign	Het
Lipo2	A	G	19: 33,745,792	I199T	possibly damaging	Het
Mks1	T	A	11: 87,859,667		probably benign	Het
Nlrp1a	A	T	11: 71,122,589		probably null	Het
Nup210	T	C	6: 91,101,268	D100G	probably damaging	Het
Olfr108	G	A	17: 37,446,285	V255I	possibly damaging	Het
Olfr1393	T	A	11: 49,280,985	I279N	probably damaging	Het
Olfr532	A	T	7: 140,419,287	L162Q	probably damaging	Het
Olfr871	T	C	9: 20,212,802	I151T	probably benign	Het
Psmd5	A	G	2: 34,857,799	V282A	probably benign	Het
Rasal3	A	T	17: 32,393,737		probably benign	Het
Rnf10	T	C	5: 115,260,196	N93D	probably damaging	Het
Slc7a9	G	A	7: 35,457,014	G294R	probably damaging	Het
Taf7	C	T	18: 37,643,362	G51R	possibly damaging	Het
Tas2r126	G	A	6: 42,435,287	M251I	probably benign	Het
Vmn1r127	A	G	7: 21,319,074	L263P	possibly damaging	Het
Vmn1r234	G	A	17: 21,228,931	V36I	probably benign	Het
Vmn2r84	T	A	10: 130,390,748	H407L	probably damaging	Het

Other mutations in Trim33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Trim33	APN	3	103330182	missense	probably benign	0.44
IGL00981:Trim33	APN	3	103351995	splice site	probably benign
IGL01010:Trim33	APN	3	103346715	nonsense	probably null
IGL01025:Trim33	APN	3	103353918	utr 3 prime	probably benign
IGL01082:Trim33	APN	3	103326859	missense	possibly damaging	0.49
IGL02245:Trim33	APN	3	103346770	critical splice donor site	probably null
IGL03248:Trim33	APN	3	103310973	unclassified	probably benign
IGL03400:Trim33	APN	3	103329143	missense	probably damaging	0.99
abilene	UTSW	3	103321559	missense	probably damaging	0.99
Bemoaned	UTSW	3	103326793	missense	possibly damaging	0.92
Excision	UTSW	3	103344576	missense	probably damaging	1.00
Peaked	UTSW	3	103337532	critical splice donor site	probably null
Pike	UTSW	3	103310885	missense	probably damaging	0.98
westworld	UTSW	3	103326901	missense	possibly damaging	0.46
R0143:Trim33	UTSW	3	103352101	missense	probably benign	0.00
R0471:Trim33	UTSW	3	103326901	missense	possibly damaging	0.46
R0513:Trim33	UTSW	3	103310384	missense	probably damaging	1.00
R0573:Trim33	UTSW	3	103351990	splice site	probably benign
R0586:Trim33	UTSW	3	103310344	missense	probably damaging	0.99
R1103:Trim33	UTSW	3	103310885	missense	probably damaging	0.98
R1157:Trim33	UTSW	3	103353830	missense	probably damaging	1.00
R1328:Trim33	UTSW	3	103353597	missense	possibly damaging	0.86
R1331:Trim33	UTSW	3	103310354	missense	probably damaging	0.99
R1385:Trim33	UTSW	3	103310950	missense	possibly damaging	0.46
R1397:Trim33	UTSW	3	103310434	unclassified	probably benign
R1785:Trim33	UTSW	3	103329220	frame shift	probably null
R1848:Trim33	UTSW	3	103324640	unclassified	probably benign
R1903:Trim33	UTSW	3	103337444	missense	probably damaging	1.00
R3404:Trim33	UTSW	3	103321559	missense	probably damaging	0.99
R3878:Trim33	UTSW	3	103352005	missense	probably damaging	1.00
R4156:Trim33	UTSW	3	103310314	missense	possibly damaging	0.94
R4281:Trim33	UTSW	3	103329086	missense	probably damaging	0.99
R4570:Trim33	UTSW	3	103330165	missense	probably damaging	0.96
R4809:Trim33	UTSW	3	103329256	missense	possibly damaging	0.91
R4904:Trim33	UTSW	3	103331647	missense	possibly damaging	0.46
R5168:Trim33	UTSW	3	103341681	nonsense	probably null
R5458:Trim33	UTSW	3	103330180	missense	possibly damaging	0.64
R5910:Trim33	UTSW	3	103344576	missense	probably damaging	1.00
R6195:Trim33	UTSW	3	103337532	critical splice donor site	probably null
R6331:Trim33	UTSW	3	103341609	missense	probably benign	0.00
R6636:Trim33	UTSW	3	103353719	missense	probably damaging	1.00
R6642:Trim33	UTSW	3	103337514	missense	probably damaging	0.99
R6783:Trim33	UTSW	3	103352087	missense	probably damaging	1.00
R6856:Trim33	UTSW	3	103352049	missense	probably damaging	0.97
R7220:Trim33	UTSW	3	103326793	missense	possibly damaging	0.92
R7325:Trim33	UTSW	3	103321636	missense	possibly damaging	0.93
R7374:Trim33	UTSW	3	103310323	missense	probably damaging	0.98
R7430:Trim33	UTSW	3	103310903	missense	possibly damaging	0.92
R7438:Trim33	UTSW	3	103346640	splice site	probably benign
R7491:Trim33	UTSW	3	103326148	missense	probably benign	0.28
R8001:Trim33	UTSW	3	103311515	critical splice donor site	probably null
R8127:Trim33	UTSW	3	103331727	missense	possibly damaging	0.66
R8326:Trim33	UTSW	3	103311454	nonsense	probably null
R8334:Trim33	UTSW	3	103353829	missense	probably benign	0.06
R8813:Trim33	UTSW	3	103346736	missense	probably benign	0.01
R8828:Trim33	UTSW	3	103329076	missense	probably damaging	0.97
R8894:Trim33	UTSW	3	103311491	missense	probably damaging	1.00
R9239:Trim33	UTSW	3	103330137	missense	probably benign	0.08
R9433:Trim33	UTSW	3	103321663	critical splice donor site	probably null
R9495:Trim33	UTSW	3	103331758	missense	probably benign	0.17
R9514:Trim33	UTSW	3	103331758	missense	probably benign	0.17
R9564:Trim33	UTSW	3	103331649	missense	probably benign	0.28
R9595:Trim33	UTSW	3	103352034	missense	probably damaging	1.00
R9722:Trim33	UTSW	3	103353830	missense	possibly damaging	0.55
R9784:Trim33	UTSW	3	103337507	missense	possibly damaging	0.66
RF005:Trim33	UTSW	3	103280212	frame shift	probably null
RF007:Trim33	UTSW	3	103280217	small deletion	probably benign
RF014:Trim33	UTSW	3	103329092	missense	possibly damaging	0.94
RF061:Trim33	UTSW	3	103280217	small deletion	probably benign
RF064:Trim33	UTSW	3	103280195	frame shift	probably null
Z1176:Trim33	UTSW	3	103353727	missense	probably benign	0.00

Posted On

2015-04-16