Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01778:Trim28'

153744

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trim28

Ensembl Gene

ENSMUSG00000005566

Gene Name

tripartite motif-containing 28

Synonyms

MommeD9, KRIP-1, Tif1b, KAP-1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01778

Quality Score

Status

Chromosome

Chromosomal Location

12758079-12764959 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12764629 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 782 (V782D)

Ref Sequence

ENSEMBL: ENSMUSP00000005705 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005705] [ENSMUST00000005711] [ENSMUST00000005714] [ENSMUST00000211369] [ENSMUST00000210587] [ENSMUST00000211344] [ENSMUST00000125964] [ENSMUST00000165394] [ENSMUST00000211626]

AlphaFold

Q62318

Predicted Effect

probably damaging
Transcript: ENSMUST00000005705
AA Change: V782D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000005705
Gene: ENSMUSG00000005566
AA Change: V782D

Domain	Start	End	E-Value	Type
low complexity region	2	34	N/A	INTRINSIC
low complexity region	37	57	N/A	INTRINSIC
RING	66	121	1.2e-7	SMART
BBOX	149	196	2.97e-12	SMART
BBOX	205	246	1.11e-11	SMART
BBC	253	379	7.92e-39	SMART
low complexity region	420	432	N/A	INTRINSIC
low complexity region	525	551	N/A	INTRINSIC
low complexity region	555	576	N/A	INTRINSIC
PHD	627	670	2.16e-9	SMART
RING	628	669	8.32e0	SMART
BROMO	697	801	6.5e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000005711

SMART Domains

Protein: ENSMUSP00000005711
Gene: ENSMUSG00000033916

Domain	Start	End	E-Value	Type
Pfam:Snf7	17	187	9.5e-50	PFAM
coiled coil region	196	222	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000005714

SMART Domains

Protein: ENSMUSP00000005714
Gene: ENSMUSG00000005575

Domain	Start	End	E-Value	Type
UBCc	32	173	8.83e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123541

SMART Domains

Protein: ENSMUSP00000120234
Gene: ENSMUSG00000005575

Domain	Start	End	E-Value	Type
UBCc	1	162	2.43e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123603

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123778

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125136

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148354

Predicted Effect

probably benign
Transcript: ENSMUST00000211369

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149061

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131837

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129122

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142421

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209577

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209487

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138357

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128951

Predicted Effect

probably benign
Transcript: ENSMUST00000210587

Predicted Effect

probably benign
Transcript: ENSMUST00000211344

Predicted Effect

probably benign
Transcript: ENSMUST00000125964

SMART Domains

Protein: ENSMUSP00000122638
Gene: ENSMUSG00000005575

Domain	Start	End	E-Value	Type
UBCc	20	161	3.67e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165394

SMART Domains

Protein: ENSMUSP00000132604
Gene: ENSMUSG00000005575

Domain	Start	End	E-Value	Type
UBCc	2	76	4.51e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000211626

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 mediates transcriptional control by interaction with the Kruppel-associated box repression domain found in many transcription factors. The protein localizes to the nucleus and is thought to associate with specific chromatin regions. The protein is a member of the tripartite motif family. This tripartite motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted disruption of this gene develop normally until the blastocyst stage and undergo uterine implantation, but become arrested at the early egg-cylinder stage, fail to gastrulate, and are completely resorbed by E8.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt2	T	C	4: 154,751,162 (GRCm39)	K325E	probably benign	Het
Arc	C	T	15: 74,544,204 (GRCm39)	M6I	probably benign	Het
Atp7b	A	T	8: 22,484,844 (GRCm39)	D1404E	probably benign	Het
Cdk5rap1	T	A	2: 154,207,956 (GRCm39)	N156I	probably damaging	Het
Ctsa	T	C	2: 164,676,230 (GRCm39)		probably benign	Het
Depdc1b	T	G	13: 108,498,861 (GRCm39)	N181K	probably benign	Het
Epg5	T	C	18: 78,062,489 (GRCm39)	V1994A	probably damaging	Het
Epyc	T	A	10: 97,517,099 (GRCm39)	C312*	probably null	Het
Erv3	T	A	2: 131,697,877 (GRCm39)	R161*	probably null	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Gfra3	T	C	18: 34,824,644 (GRCm39)	T280A	possibly damaging	Het
Gldn	A	T	9: 54,241,776 (GRCm39)		probably null	Het
Gtf3c4	G	A	2: 28,725,100 (GRCm39)	R211C	probably damaging	Het
Hrob	T	C	11: 102,146,422 (GRCm39)	C233R	probably benign	Het
Hsh2d	A	G	8: 72,947,351 (GRCm39)	D16G	probably damaging	Het
Klk15	T	A	7: 43,588,262 (GRCm39)	M190K	probably damaging	Het
Klri1	A	G	6: 129,694,010 (GRCm39)	S26P	possibly damaging	Het
Krt78	T	A	15: 101,859,402 (GRCm39)	D265V	probably damaging	Het
Lgr5	A	C	10: 115,298,607 (GRCm39)	I355S	probably damaging	Het
Lig3	T	A	11: 82,685,367 (GRCm39)	V595D	probably damaging	Het
Map2k6	A	C	11: 110,403,695 (GRCm39)		probably benign	Het
Mdm4	A	G	1: 132,922,285 (GRCm39)	S286P	probably benign	Het
Ncoa4-ps	T	C	12: 119,226,231 (GRCm39)		noncoding transcript	Het
Or2ak7	A	G	11: 58,575,095 (GRCm39)	Y132C	probably damaging	Het
Pofut1	T	A	2: 153,090,448 (GRCm39)	M114K	probably damaging	Het
Rdh13	C	T	7: 4,433,388 (GRCm39)		probably null	Het
Reg3g	T	A	6: 78,443,816 (GRCm39)	I131F	probably benign	Het
Slc26a4	C	T	12: 31,578,853 (GRCm39)		probably benign	Het
Slc8a2	T	A	7: 15,892,818 (GRCm39)	F827I	probably damaging	Het
Slfn9	A	T	11: 82,878,200 (GRCm39)	C310S	probably damaging	Het
Sypl1	A	G	12: 33,025,641 (GRCm39)	Y235C	probably damaging	Het
Trav7-4	A	T	14: 53,699,098 (GRCm39)	T82S	possibly damaging	Het
Ttn	G	A	2: 76,575,242 (GRCm39)	T25217M	probably damaging	Het
Usp6nl	A	G	2: 6,432,381 (GRCm39)	T260A	possibly damaging	Het
Vmn2r54	A	T	7: 12,366,009 (GRCm39)	N308K	probably benign	Het
Xdh	T	C	17: 74,207,275 (GRCm39)	E986G	probably benign	Het
Zfp770	T	C	2: 114,026,719 (GRCm39)	D450G	probably damaging	Het
Zw10	T	G	9: 48,980,915 (GRCm39)	S438R	probably benign	Het

Other mutations in Trim28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0113:Trim28	UTSW	7	12,762,628 (GRCm39)	missense	probably damaging	1.00
R0610:Trim28	UTSW	7	12,759,711 (GRCm39)	splice site	probably benign
R1558:Trim28	UTSW	7	12,761,761 (GRCm39)	missense	probably damaging	1.00
R1650:Trim28	UTSW	7	12,764,776 (GRCm39)	missense	possibly damaging	0.79
R3120:Trim28	UTSW	7	12,762,341 (GRCm39)	missense	probably damaging	1.00
R4022:Trim28	UTSW	7	12,762,485 (GRCm39)	unclassified	probably benign
R4173:Trim28	UTSW	7	12,763,805 (GRCm39)	missense	probably benign	0.00
R4237:Trim28	UTSW	7	12,761,838 (GRCm39)	missense	possibly damaging	0.94
R4379:Trim28	UTSW	7	12,763,407 (GRCm39)	missense	probably damaging	0.99
R5206:Trim28	UTSW	7	12,759,275 (GRCm39)	missense	probably benign	0.01
R5754:Trim28	UTSW	7	12,763,036 (GRCm39)	missense	probably benign	0.12
R6788:Trim28	UTSW	7	12,759,273 (GRCm39)	missense	probably benign	0.00
R6864:Trim28	UTSW	7	12,763,385 (GRCm39)	missense	possibly damaging	0.85
R7089:Trim28	UTSW	7	12,758,833 (GRCm39)	missense	probably damaging	0.99
R7588:Trim28	UTSW	7	12,763,347 (GRCm39)	missense	probably damaging	1.00
R7677:Trim28	UTSW	7	12,762,040 (GRCm39)	missense	possibly damaging	0.92
R7861:Trim28	UTSW	7	12,762,339 (GRCm39)	missense	possibly damaging	0.67
R7878:Trim28	UTSW	7	12,758,289 (GRCm39)	start gained	probably benign
R8814:Trim28	UTSW	7	12,762,454 (GRCm39)	missense	probably damaging	0.96
R9226:Trim28	UTSW	7	12,763,490 (GRCm39)	missense	probably benign	0.25
R9231:Trim28	UTSW	7	12,763,490 (GRCm39)	missense	probably benign	0.25
R9232:Trim28	UTSW	7	12,763,490 (GRCm39)	missense	probably benign	0.25
R9233:Trim28	UTSW	7	12,763,490 (GRCm39)	missense	probably benign	0.25
R9235:Trim28	UTSW	7	12,763,490 (GRCm39)	missense	probably benign	0.25
R9236:Trim28	UTSW	7	12,763,490 (GRCm39)	missense	probably benign	0.25
R9518:Trim28	UTSW	7	12,764,445 (GRCm39)	missense	probably damaging	1.00
X0050:Trim28	UTSW	7	12,763,398 (GRCm39)	missense	probably benign	0.10

Posted On

2014-02-04