Mutagenetix > Incidental Mutation

Incidental Mutation 'R0513:Trim33'

47978

Institutional Source

Beutler Lab

Gene Symbol

Trim33

Ensembl Gene

ENSMUSG00000033014

Gene Name

tripartite motif-containing 33

Synonyms

8030451N04Rik, ectodermin, Ecto, Tif1g

MMRRC Submission

038707-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0513 (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 103217700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 215 (D215G)

Ref Sequence

ENSEMBL: ENSMUSP00000102473 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029444
AA Change: D215G

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029444
Gene: ENSMUSG00000033014
AA Change: D215G

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: D215G

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

SMART Domains

Protein: ENSMUSP00000102473
Gene: ENSMUSG00000033014
AA Change: D215G

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

Meta Mutation Damage Score

0.4074

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 96.6%
20x: 92.9%

Validation Efficiency

99% (122/123)

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,606,195 (GRCm39)	T146A	probably benign	Het
Abcg4	A	G	9: 44,192,984 (GRCm39)	S121P	possibly damaging	Het
Actr2	T	C	11: 20,030,124 (GRCm39)	T212A	probably damaging	Het
Adcy10	T	A	1: 165,347,088 (GRCm39)	D368E	probably benign	Het
Albfm1	A	T	5: 90,725,786 (GRCm39)	T333S	probably benign	Het
Anapc15	T	C	7: 101,547,747 (GRCm39)		probably benign	Het
Aox4	A	G	1: 58,256,678 (GRCm39)	R67G	probably benign	Het
Aox4	A	G	1: 58,286,459 (GRCm39)	D697G	probably damaging	Het
Arhgap42	A	T	9: 9,005,766 (GRCm39)	S755T	probably benign	Het
Atm	A	G	9: 53,415,248 (GRCm39)	V881A	probably benign	Het
Cdkal1	C	T	13: 29,809,948 (GRCm39)		probably benign	Het
Cfap20dc	A	C	14: 8,536,609 (GRCm38)	D199E	probably damaging	Het
Cfap61	C	A	2: 145,877,215 (GRCm39)	N491K	possibly damaging	Het
Chgb	T	C	2: 132,627,897 (GRCm39)		probably benign	Het
Chrna1	C	A	2: 73,398,426 (GRCm39)		probably benign	Het
Chst10	A	G	1: 38,904,844 (GRCm39)	L283P	probably damaging	Het
Clca3a1	A	G	3: 144,466,323 (GRCm39)		probably null	Het
Crppa	A	T	12: 36,440,467 (GRCm39)	H125L	probably damaging	Het
Cryzl1	G	T	16: 91,496,175 (GRCm39)	A1E	possibly damaging	Het
Csnk1a1	T	C	18: 61,709,618 (GRCm39)	Y213H	probably damaging	Het
Cspg4	A	G	9: 56,805,375 (GRCm39)	Q2062R	probably benign	Het
Ctnnal1	A	G	4: 56,835,348 (GRCm39)	C310R	probably benign	Het
D630003M21Rik	T	C	2: 158,042,228 (GRCm39)	E906G	probably benign	Het
D930048N14Rik	T	C	11: 51,545,755 (GRCm39)		probably benign	Het
Dag1	G	A	9: 108,085,684 (GRCm39)	P486S	possibly damaging	Het
Dgkq	A	G	5: 108,804,361 (GRCm39)	L33P	probably benign	Het
Dlc1	C	T	8: 37,051,164 (GRCm39)	G856R	probably damaging	Het
Dst	T	A	1: 34,258,612 (GRCm39)		probably benign	Het
Dtl	A	T	1: 191,301,819 (GRCm39)	Y79*	probably null	Het
Egfr	T	G	11: 16,822,855 (GRCm39)	L406R	probably damaging	Het
Elp3	A	T	14: 65,800,695 (GRCm39)		probably null	Het
Fbxw19	C	A	9: 109,310,621 (GRCm39)		probably null	Het
Frs2	T	C	10: 116,910,570 (GRCm39)	E264G	possibly damaging	Het
Fscn2	G	T	11: 120,252,706 (GRCm39)	V58L	probably damaging	Het
Gm17324	G	A	9: 78,356,007 (GRCm39)		probably benign	Het
Gm4787	A	T	12: 81,425,086 (GRCm39)	N357K	probably benign	Het
Gm9956	G	T	10: 56,621,291 (GRCm39)			Het
Gsg1l	C	T	7: 125,619,795 (GRCm39)		probably null	Het
Herc1	G	A	9: 66,352,927 (GRCm39)	V2138M	possibly damaging	Het
Htr2a	T	C	14: 74,943,764 (GRCm39)	L448P	probably benign	Het
Ing3	C	T	6: 21,970,034 (GRCm39)	S255L	probably damaging	Het
Krt78	T	C	15: 101,859,384 (GRCm39)	D271G	probably damaging	Het
Lmbrd2	T	A	15: 9,194,816 (GRCm39)	L606H	probably damaging	Het
Lmod1	T	A	1: 135,252,906 (GRCm39)	N53K	probably damaging	Het
Lsr	G	C	7: 30,657,763 (GRCm39)	A467G	probably benign	Het
Mbtd1	T	A	11: 93,823,038 (GRCm39)		probably null	Het
Mill1	T	A	7: 17,998,802 (GRCm39)	Y337*	probably null	Het
Mlxipl	A	T	5: 135,166,117 (GRCm39)	Q833L	probably benign	Het
Mon2	C	T	10: 122,874,515 (GRCm39)	V278M	probably damaging	Het
Mxra8	A	C	4: 155,926,190 (GRCm39)	M180L	probably benign	Het
Myo18a	A	T	11: 77,702,420 (GRCm39)		probably benign	Het
Myo1c	T	G	11: 75,556,657 (GRCm39)		probably null	Het
Myo1g	T	C	11: 6,460,203 (GRCm39)	T782A	probably benign	Het
Ncapd3	A	G	9: 26,975,401 (GRCm39)		probably benign	Het
Neb	T	C	2: 52,198,699 (GRCm39)	D414G	probably damaging	Het
Nedd4l	T	A	18: 65,328,256 (GRCm39)		probably benign	Het
Nf2	T	C	11: 4,741,185 (GRCm39)	K343R	possibly damaging	Het
Nfasc	A	T	1: 132,531,584 (GRCm39)	D733E	possibly damaging	Het
Nolc1	G	A	19: 46,072,598 (GRCm39)	D699N	probably damaging	Het
Nrbp2	C	T	15: 75,960,825 (GRCm39)	A45T	probably benign	Het
Obscn	A	G	11: 58,952,348 (GRCm39)	V3907A	possibly damaging	Het
Or2b6	A	T	13: 21,823,119 (GRCm39)	D191E	probably benign	Het
Or2y6	T	C	11: 52,104,576 (GRCm39)	Q80R	possibly damaging	Het
Or8b8	A	T	9: 37,809,351 (GRCm39)	Y217F	probably damaging	Het
Pank2	C	T	2: 131,124,526 (GRCm39)	T290I	probably damaging	Het
Pbx4	T	C	8: 70,317,529 (GRCm39)	V171A	probably benign	Het
Pcgf1	G	T	6: 83,057,555 (GRCm39)	V75F	probably damaging	Het
Pik3ca	T	C	3: 32,515,660 (GRCm39)	S778P	probably damaging	Het
Pld6	T	C	11: 59,676,047 (GRCm39)	I141M	probably damaging	Het
Polq	T	A	16: 36,914,864 (GRCm39)	V2508E	probably damaging	Het
Prkca	C	G	11: 107,905,202 (GRCm39)	D179H	possibly damaging	Het
Pspn	T	C	17: 57,306,720 (GRCm39)	S70G	probably damaging	Het
Ptchd4	C	T	17: 42,814,637 (GRCm39)	T846I	probably benign	Het
Reg3g	A	C	6: 78,444,827 (GRCm39)	Y50*	probably null	Het
Rev3l	C	T	10: 39,704,139 (GRCm39)	H2062Y	probably benign	Het
Rsph4a	C	T	10: 33,788,987 (GRCm39)	Q611*	probably null	Het
Scart1	C	A	7: 139,804,873 (GRCm39)	C625*	probably null	Het
Scgb1b20	G	A	7: 33,072,739 (GRCm39)		probably null	Het
Sfxn5	T	C	6: 85,246,955 (GRCm39)		probably benign	Het
Sh3tc1	T	A	5: 35,857,651 (GRCm39)	Q1179L	possibly damaging	Het
Skint11	A	G	4: 114,051,762 (GRCm39)	I37V	probably benign	Het
Slc35f5	T	C	1: 125,503,906 (GRCm39)		probably benign	Het
Slc8a2	A	C	7: 15,891,264 (GRCm39)	D768A	probably damaging	Het
Slco6b1	A	G	1: 96,924,909 (GRCm39)		noncoding transcript	Het
Smurf2	T	A	11: 106,726,931 (GRCm39)	T453S	probably benign	Het
Spag16	A	G	1: 70,532,927 (GRCm39)		probably benign	Het
Spindoc	G	A	19: 7,351,509 (GRCm39)	T205I	probably benign	Het
Stab1	T	C	14: 30,870,902 (GRCm39)	I1316V	probably benign	Het
Stox2	T	C	8: 47,646,900 (GRCm39)	R187G	probably damaging	Het
Tcea2	A	C	2: 181,326,274 (GRCm39)	T93P	probably benign	Het
Tenm4	T	C	7: 96,544,830 (GRCm39)	M2311T	probably benign	Het
Tmem63a	A	G	1: 180,788,026 (GRCm39)	Q260R	probably benign	Het
Tnpo2	A	T	8: 85,780,158 (GRCm39)	H698L	probably benign	Het
Ttc3	T	A	16: 94,227,071 (GRCm39)	I727N	probably damaging	Het
Ttn	T	A	2: 76,773,669 (GRCm39)	K2271N	probably damaging	Het
Ubr2	T	A	17: 47,297,705 (GRCm39)	K223*	probably null	Het
Ubr4	A	G	4: 139,144,186 (GRCm39)	M1410V	possibly damaging	Het
Ugt2b35	T	C	5: 87,151,271 (GRCm39)		probably benign	Het
Ulk4	T	A	9: 120,981,391 (GRCm39)	H880L	probably benign	Het
Unc80	G	A	1: 66,661,633 (GRCm39)	C1686Y	possibly damaging	Het
Upf2	T	A	2: 5,962,478 (GRCm39)	L60Q	unknown	Het
Usf2	A	T	7: 30,654,161 (GRCm39)		probably benign	Het
Usp21	T	A	1: 171,110,586 (GRCm39)		probably benign	Het
Usp21	T	A	1: 171,110,588 (GRCm39)		probably benign	Het
Vmn2r118	T	A	17: 55,917,970 (GRCm39)	K181*	probably null	Het
Vmn2r124	T	A	17: 18,293,991 (GRCm39)	S693T	possibly damaging	Het
Vmn2r76	C	A	7: 85,877,987 (GRCm39)	G470V	probably benign	Het
Vps13c	A	C	9: 67,838,017 (GRCm39)	I1856L	probably benign	Het
Vps50	C	T	6: 3,520,210 (GRCm39)	L119F	probably damaging	Het
Wdfy3	T	A	5: 102,038,655 (GRCm39)	S2012C	probably damaging	Het
Zfp1008	A	C	13: 62,753,029 (GRCm39)	V99G	possibly damaging	Het
Zfp142	A	G	1: 74,610,714 (GRCm39)	V924A	probably damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp235	T	C	7: 23,841,644 (GRCm39)	S688P	probably damaging	Het
Zfp39	C	T	11: 58,780,813 (GRCm39)	V650I	probably benign	Het
Zfp82	A	T	7: 29,756,265 (GRCm39)	N272K	probably damaging	Het
Zfyve21	A	C	12: 111,789,698 (GRCm39)	D54A	possibly damaging	Het
Zfyve26	C	T	12: 79,291,258 (GRCm39)	D2116N	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
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

Predicted Primers

PCR Primer
(F):5'- CCAAATGGGCTTTATGCAGACTTTCC -3'
(R):5'- ATGCATGTCTTACACAGCCACTCTC -3'

Sequencing Primer
(F):5'- TCCTGCTTTTCCTTTTGAAGAAC -3'
(R):5'- ACCAACTGCACTTGCATTATC -3'

Posted On

2013-06-12