Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03248:Trim33'

414500

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 #

IGL03248

Quality Score

Status

Chromosome

Chromosomal Location

103279293-103358775 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 103310973 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000029444

SMART Domains

Protein: ENSMUSP00000029444
Gene: ENSMUSG00000033014

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 benign
Transcript: ENSMUST00000106860

SMART Domains

Protein: ENSMUSP00000102473
Gene: ENSMUSG00000033014

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

probably benign
Transcript: ENSMUST00000197779

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	T	C	9: 122,368,225	F116S	probably damaging	Het
Accsl	A	G	2: 93,862,784		probably benign	Het
Adgrl2	T	A	3: 148,817,400	E165V	probably damaging	Het
Alb	T	C	5: 90,461,714		probably benign	Het
Ank2	C	A	3: 126,955,870	E503D	probably damaging	Het
Arhgef10	T	C	8: 14,928,847	V38A	probably benign	Het
Astn2	A	G	4: 65,746,293		probably benign	Het
Bahcc1	G	A	11: 120,268,409	R154H	probably damaging	Het
Cep120	A	G	18: 53,735,772	Y112H	probably benign	Het
Chrna5	C	T	9: 55,004,639	T241I	probably damaging	Het
Clasp1	A	G	1: 118,602,476	S1215G	probably benign	Het
Ddx21	C	T	10: 62,591,990	R378Q	possibly damaging	Het
Dnah1	A	T	14: 31,269,889	L3052Q	probably damaging	Het
Dyrk4	G	T	6: 126,884,053	T445K	probably benign	Het
Ercc4	T	C	16: 13,127,593	W291R	probably damaging	Het
Fam208a	C	T	14: 27,476,692	T1327I	probably damaging	Het
Flvcr1	A	G	1: 191,025,742	W76R	probably damaging	Het
Frmd3	A	G	4: 74,128,218	I132V	possibly damaging	Het
Gnb4	T	C	3: 32,585,175	D323G	probably damaging	Het
Hnrnpc	G	A	14: 52,075,439		probably benign	Het
Hnrnpl	T	C	7: 28,814,080	S202P	probably benign	Het
Hydin	T	A	8: 110,595,289	F4524L	probably damaging	Het
Iars2	A	G	1: 185,291,432		probably benign	Het
Ino80d	A	G	1: 63,068,182		probably null	Het
Itga8	C	A	2: 12,132,516	A13S	probably benign	Het
Man2a1	T	C	17: 64,713,611	F794S	probably damaging	Het
Mpp7	T	C	18: 7,403,269	D347G	probably benign	Het
Nup93	T	C	8: 94,306,088	L411P	probably damaging	Het
Olfr564	C	T	7: 102,803,639	Q54*	probably null	Het
Plin1	C	T	7: 79,722,634	V86I	probably damaging	Het
Rgs6	A	G	12: 83,052,550		probably benign	Het
Shroom3	C	T	5: 92,952,540	P1473S	probably benign	Het
Slc12a8	A	G	16: 33,551,027	I178V	probably damaging	Het
Slc20a2	T	A	8: 22,558,983	S219T	probably benign	Het
Tfeb	T	C	17: 47,786,995	M36T	probably benign	Het
Trnau1ap	A	G	4: 132,321,803	Y30H	probably damaging	Het
Tulp1	T	C	17: 28,359,324	K276E	possibly damaging	Het
Uvssa	T	A	5: 33,391,816	I340N	probably damaging	Het
Vmn1r32	T	A	6: 66,552,913	N293I	possibly damaging	Het
Xpc	T	C	6: 91,504,583	N250S	probably damaging	Het
Ybey	T	C	10: 76,468,327	I14V	probably benign	Het
Zfhx3	T	C	8: 108,946,550	Y1411H	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
IGL02291:Trim33	APN	3	103326865	missense	probably damaging	1.00
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
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

2016-08-02