Mutagenetix > Incidental Mutation

Incidental Mutation 'R1328:Trim33'

157270

Institutional Source

Beutler Lab

Gene Symbol

Trim33

Ensembl Gene

ENSMUSG00000033014

Gene Name

tripartite motif-containing 33

Synonyms

8030451N04Rik, ectodermin, Ecto, Tif1g

MMRRC Submission

039394-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1328 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103186609-103266086 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103260913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1064 (T1064A)

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: T1064A

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029444
Gene: ENSMUSG00000033014
AA Change: T1064A

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

unknown
Transcript: ENSMUST00000197365
AA Change: T257A

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

Meta Mutation Damage Score

0.0864

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.2%
20x: 89.9%

Validation Efficiency

100% (37/37)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp4	C	T	7: 43,906,516 (GRCm39)		probably null	Het
Bcap29	T	C	12: 31,680,807 (GRCm39)	I60V	probably benign	Het
Ccdc71	T	A	9: 108,340,148 (GRCm39)		probably benign	Het
Ccnb1ip1	A	T	14: 51,027,382 (GRCm39)	V240E	probably benign	Het
Copa	C	T	1: 171,949,258 (GRCm39)		probably benign	Het
Dmxl2	G	T	9: 54,303,533 (GRCm39)	Q2314K	probably benign	Het
Fam181b	T	C	7: 92,729,437 (GRCm39)	I70T	probably damaging	Het
Fbxl14	T	C	6: 119,457,347 (GRCm39)	L176P	possibly damaging	Het
Fip1l1	T	A	5: 74,706,796 (GRCm39)	F144L	possibly damaging	Het
Flnc	T	C	6: 29,438,612 (GRCm39)	W169R	probably damaging	Het
H2-M3	T	C	17: 37,581,925 (GRCm39)	V127A	possibly damaging	Het
Il23r	T	A	6: 67,468,802 (GRCm39)		probably benign	Het
Krt18	C	T	15: 101,939,169 (GRCm39)	A251V	probably benign	Het
Mast1	A	G	8: 85,644,617 (GRCm39)		probably benign	Het
Or6c202	A	G	10: 128,996,293 (GRCm39)	S187P	possibly damaging	Het
Or9i14	G	A	19: 13,792,900 (GRCm39)	T18I	probably benign	Het
Pkhd1l1	T	C	15: 44,361,392 (GRCm39)	Y481H	probably benign	Het
Polr3e	C	T	7: 120,533,046 (GRCm39)		probably benign	Het
Pou4f2	G	A	8: 79,162,759 (GRCm39)	A92V	probably benign	Het
Pramel5	A	G	4: 143,998,058 (GRCm39)	L395P	probably damaging	Het
Prmt9	T	C	8: 78,299,283 (GRCm39)	I659T	possibly damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rrp36	T	A	17: 46,983,705 (GRCm39)	K36*	probably null	Het
Sag	G	A	1: 87,738,016 (GRCm39)		probably benign	Het
Setd7	T	C	3: 51,450,240 (GRCm39)	Y62C	possibly damaging	Het
Smr2	AT	ATT	5: 88,256,683 (GRCm39)		probably null	Het
Sox13	T	C	1: 133,311,555 (GRCm39)	D559G	probably damaging	Het
Srd5a1	T	A	13: 69,723,310 (GRCm39)	Y236F	probably damaging	Het
Stxbp2	A	T	8: 3,692,657 (GRCm39)	I570F	possibly damaging	Het
Tbc1d31	T	C	15: 57,805,859 (GRCm39)		probably benign	Het
Vmn1r8	T	C	6: 57,013,278 (GRCm39)	S110P	possibly damaging	Het
Vmn2r118	C	A	17: 55,915,620 (GRCm39)	M443I	probably benign	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
R1157:Trim33	UTSW	3	103,261,146 (GRCm39)	missense	probably damaging	1.00
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

PCR Primer
(F):5'- ACGTTCTGCCTGTCAAGAGTTCAC -3'
(R):5'- CAAAGTACAATGCAACTGCTTTCCCTG -3'

Sequencing Primer
(F):5'- tataggaagaccctgtctcaaaaaaC -3'
(R):5'- TGCCTTAGCTACTTCTGAATCAC -3'

Posted On

2014-02-18