Mutagenetix > Incidental Mutation

Incidental Mutation 'R1157:Trim33'

101781

Institutional Source

Beutler Lab

Gene Symbol

Trim33

Ensembl Gene

ENSMUSG00000033014

Gene Name

tripartite motif-containing 33

Synonyms

8030451N04Rik, ectodermin, Ecto, Tif1g

MMRRC Submission

039230-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1157 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103186609-103266086 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 103261146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1098 (T1098I)

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: T1115I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029444
Gene: ENSMUSG00000033014
AA Change: T1115I

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: T1098I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000102473
Gene: ENSMUSG00000033014
AA Change: T1098I

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: ENSMUST00000197365

Predicted Effect

probably benign
Transcript: ENSMUST00000198706

SMART Domains

Protein: ENSMUSP00000142585
Gene: ENSMUSG00000033014

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.7%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	C	A	3: 95,590,971 (GRCm39)	S332I	possibly damaging	Het
Alpl	A	G	4: 137,481,331 (GRCm39)	V107A	probably damaging	Het
Baz1a	A	T	12: 54,976,349 (GRCm39)	F442L	probably damaging	Het
Cachd1	T	A	4: 100,832,037 (GRCm39)	M733K	possibly damaging	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Cenpf	A	T	1: 189,390,650 (GRCm39)	C1061S	probably benign	Het
Crispld1	G	A	1: 17,815,587 (GRCm39)	V90M	possibly damaging	Het
Ergic1	T	A	17: 26,833,369 (GRCm39)	L41Q	probably damaging	Het
Fhod3	C	T	18: 25,118,293 (GRCm39)	A210V	probably damaging	Het
Gas2l2	G	A	11: 83,314,154 (GRCm39)	P386L	probably benign	Het
Gm21726	T	C	13: 90,731,724 (GRCm39)		noncoding transcript	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Hoxa13	CCG	CCGCG	6: 52,237,618 (GRCm39)		probably null	Het
Iqsec1	A	G	6: 90,646,366 (GRCm39)	V771A	possibly damaging	Het
Klhl29	T	C	12: 5,140,650 (GRCm39)	N664S	possibly damaging	Het
Krit1	T	C	5: 3,882,176 (GRCm39)	Y659H	probably damaging	Het
Lap3	T	A	5: 45,664,490 (GRCm39)	D373E	probably damaging	Het
Lrrc7	A	G	3: 157,865,892 (GRCm39)	I1283T	probably damaging	Het
Lrrk1	T	C	7: 65,912,031 (GRCm39)	Y1843C	probably benign	Het
Mapre1	T	A	2: 153,599,937 (GRCm39)	D120E	probably benign	Het
Mgp	A	T	6: 136,850,204 (GRCm39)	M44K	possibly damaging	Het
Mrps25	A	T	6: 92,160,947 (GRCm39)	M3K	probably damaging	Het
Myo3a	G	T	2: 22,434,456 (GRCm39)		probably null	Het
Nedd9	C	T	13: 41,467,979 (GRCm39)		probably null	Het
Or52e4	A	G	7: 104,706,091 (GRCm39)	I213V	probably benign	Het
Or6c8b	T	G	10: 128,882,027 (GRCm39)	T302P	probably benign	Het
Or7c19	G	T	8: 85,957,889 (GRCm39)	C255F	probably damaging	Het
Pate12	G	A	9: 36,344,143 (GRCm39)	C42Y	probably benign	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pigs	T	C	11: 78,219,820 (GRCm39)	V65A	possibly damaging	Het
Pip5k1a	G	A	3: 94,985,423 (GRCm39)	T60I	probably benign	Het
Rp9	A	T	9: 22,370,036 (GRCm39)	Y44N	probably damaging	Het
Tcea1	T	A	1: 4,959,670 (GRCm39)		probably null	Het
Vmn2r114	T	A	17: 23,529,314 (GRCm39)	I263F	possibly damaging	Het
Wdr12	A	T	1: 60,117,389 (GRCm39)	S402R	probably damaging	Het
Zfp619	A	G	7: 39,186,282 (GRCm39)	S771G	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
IGL01082:Trim33	APN	3	103,234,175 (GRCm39)	missense	possibly damaging	0.49
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
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

Predicted Primers

Posted On

2014-01-15