Mutagenetix > Incidental Mutation

Incidental Mutation 'R2869:Trim32'

253415

Institutional Source

Beutler Lab

Gene Symbol

Trim32

Ensembl Gene

ENSMUSG00000051675

Gene Name

tripartite motif-containing 32

Synonyms

3f3, Zfp117, 1810045E12Rik, BBS11

MMRRC Submission

040457-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.866) question?

Stock #

R2869 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65523223-65534475 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65532694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 417 (D417G)

Ref Sequence

ENSEMBL: ENSMUSP00000102989 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050850] [ENSMUST00000068214] [ENSMUST00000084496] [ENSMUST00000107366] [ENSMUST00000155978] [ENSMUST00000156922]

AlphaFold

Q8CH72

Predicted Effect

probably damaging
Transcript: ENSMUST00000050850
AA Change: D417G

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

SMART Domains

Protein: ENSMUSP00000062277
Gene: ENSMUSG00000051675
AA Change: D417G

Domain	Start	End	E-Value	Type
RING	21	65	8.61e-9	SMART
BBOX	96	139	3.44e-8	SMART
low complexity region	253	268	N/A	INTRINSIC
low complexity region	307	321	N/A	INTRINSIC
Pfam:NHL	471	498	6.9e-7	PFAM
Pfam:NHL	618	645	4.1e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000068214

SMART Domains

Protein: ENSMUSP00000065786
Gene: ENSMUSG00000028373

Domain	Start	End	E-Value	Type
signal peptide	1	51	N/A	INTRINSIC
low complexity region	87	127	N/A	INTRINSIC
transmembrane domain	219	241	N/A	INTRINSIC
low complexity region	303	312	N/A	INTRINSIC
low complexity region	342	361	N/A	INTRINSIC
low complexity region	393	404	N/A	INTRINSIC
low complexity region	432	437	N/A	INTRINSIC
transmembrane domain	443	465	N/A	INTRINSIC
EGF_like	526	563	2.92e1	SMART
Blast:EGF_like	667	708	2e-18	BLAST
EGF_like	715	764	4.03e1	SMART
MACPF	864	1048	2.88e-55	SMART
FN3	1079	1191	2.41e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000084496

SMART Domains

Protein: ENSMUSP00000081540
Gene: ENSMUSG00000028373

Domain	Start	End	E-Value	Type
signal peptide	1	51	N/A	INTRINSIC
low complexity region	87	127	N/A	INTRINSIC
transmembrane domain	219	241	N/A	INTRINSIC
low complexity region	303	312	N/A	INTRINSIC
low complexity region	341	352	N/A	INTRINSIC
low complexity region	380	385	N/A	INTRINSIC
transmembrane domain	391	413	N/A	INTRINSIC
EGF_like	474	511	2.92e1	SMART
Blast:EGF_like	615	656	2e-18	BLAST
EGF_like	663	712	4.03e1	SMART
MACPF	812	996	2.88e-55	SMART
FN3	1027	1139	2.41e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107366
AA Change: D417G

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

SMART Domains

Protein: ENSMUSP00000102989
Gene: ENSMUSG00000051675
AA Change: D417G

Domain	Start	End	E-Value	Type
RING	21	65	8.61e-9	SMART
BBOX	96	139	3.44e-8	SMART
low complexity region	253	268	N/A	INTRINSIC
low complexity region	307	321	N/A	INTRINSIC
Pfam:NHL	373	400	3.6e-7	PFAM
Pfam:NHL	471	498	2.7e-7	PFAM
Pfam:NHL	618	645	2.5e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155978

SMART Domains

Protein: ENSMUSP00000119579
Gene: ENSMUSG00000051675

Domain	Start	End	E-Value	Type
RING	21	65	8.61e-9	SMART
Blast:BBOX	96	136	3e-22	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000156922

SMART Domains

Protein: ENSMUSP00000121949
Gene: ENSMUSG00000051675

Domain	Start	End	E-Value	Type
RING	21	65	8.61e-9	SMART
BBOX	96	139	3.44e-8	SMART

Coding Region Coverage

1x: 99.6%
3x: 98.4%
10x: 93.9%
20x: 77.8%

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 a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. The protein has also been localized to the nucleus, where it interacts with the activation domain of the HIV-1 Tat protein. The Tat protein activates transcription of HIV-1 genes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit mild myopathy with sarcotubular myopathy, decreased fertility, and decreased axon diameter. Mice homozygous for a knock-out allele exhibit impaired adult muscle regeneration and myopathy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
Ccl27a	C	T	4: 41,769,640 (GRCm39)	R73Q	probably benign	Het
Cd6	A	G	19: 10,771,990 (GRCm39)	I307T	possibly damaging	Het
Ch25h	T	A	19: 34,452,210 (GRCm39)	H106L	probably benign	Het
Dennd2b	A	T	7: 109,156,637 (GRCm39)	Y38N	probably benign	Het
Dhx57	A	T	17: 80,558,805 (GRCm39)	D1051E	probably benign	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Eif4enif1	C	T	11: 3,192,586 (GRCm39)	P805S	probably damaging	Het
Fan1	A	G	7: 64,012,938 (GRCm39)	I668T	probably benign	Het
Frmpd4	A	T	X: 166,260,243 (GRCm39)	D1166E	probably benign	Het
Gbp11	C	T	5: 105,478,866 (GRCm39)	D191N	probably benign	Het
Ggt6	A	T	11: 72,328,187 (GRCm39)	N229I	probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Gsdme	A	T	6: 50,185,157 (GRCm39)	C432*	probably null	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hmcn1	A	T	1: 150,614,467 (GRCm39)	V1313D	possibly damaging	Het
Kcnb1	A	G	2: 166,947,855 (GRCm39)	L331P	probably damaging	Het
Klf8	A	T	X: 152,165,678 (GRCm39)	E82D	probably damaging	Het
Krt13	A	G	11: 100,008,475 (GRCm39)	S421P	unknown	Het
Lactbl1	G	A	4: 136,354,097 (GRCm39)	C37Y	probably damaging	Het
Lzts2	C	A	19: 45,012,534 (GRCm39)	S321*	probably null	Het
Meikin	T	C	11: 54,264,333 (GRCm39)	V103A	possibly damaging	Het
Mki67	G	A	7: 135,309,878 (GRCm39)	P191L	probably benign	Het
Mlxip	A	G	5: 123,590,730 (GRCm39)	M878V	probably benign	Het
Mpp7	G	A	18: 7,461,678 (GRCm39)	P65L	possibly damaging	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Nbn	T	A	4: 15,963,810 (GRCm39)	D70E	probably damaging	Het
Nomo1	C	A	7: 45,696,361 (GRCm39)	T293N	probably damaging	Het
Notum	A	G	11: 120,551,022 (GRCm39)	V48A	probably benign	Het
Nwd2	A	T	5: 63,957,671 (GRCm39)	I334L	probably benign	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Or4k2	T	C	14: 50,423,811 (GRCm39)	T288A	probably benign	Het
Or6c211	A	T	10: 129,505,628 (GRCm39)	C253*	probably null	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Otud4	T	A	8: 80,387,702 (GRCm39)	N300K	possibly damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Parp1	A	G	1: 180,401,230 (GRCm39)	D45G	probably damaging	Het
Pes1	C	A	11: 3,926,834 (GRCm39)	T372K	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Prdx4	A	G	X: 154,123,460 (GRCm39)	V15A	probably benign	Het
Psmb8	T	C	17: 34,419,144 (GRCm39)	I146T	probably damaging	Het
Psmd13	A	T	7: 140,466,968 (GRCm39)	T116S	probably damaging	Het
Pzp	A	T	6: 128,462,519 (GRCm39)		probably null	Het
Serinc2	A	G	4: 130,159,005 (GRCm39)	S29P	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Sppl2c	C	T	11: 104,078,141 (GRCm39)	P314S	probably benign	Het
St7	C	T	6: 17,819,276 (GRCm39)	P60L	probably damaging	Het
Stx3	A	T	19: 11,766,938 (GRCm39)	V91D	probably damaging	Het
Tafa2	A	T	10: 123,540,270 (GRCm39)	H42L	possibly damaging	Het
Tnni3k	C	T	3: 154,644,387 (GRCm39)		probably null	Het
Tprg1	T	C	16: 25,231,590 (GRCm39)	W189R	probably damaging	Het
Vmn2r68	A	C	7: 84,882,834 (GRCm39)	M306R	probably benign	Het
Vwa7	G	A	17: 35,240,218 (GRCm39)	M395I	probably damaging	Het
Ybx3	G	A	6: 131,347,376 (GRCm39)	A253V	probably damaging	Het
Zfp53	A	T	17: 21,728,340 (GRCm39)	E124D	probably benign	Het

Other mutations in Trim32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02142:Trim32	APN	4	65,532,736 (GRCm39)	missense	probably damaging	1.00
IGL02534:Trim32	APN	4	65,532,906 (GRCm39)	missense	possibly damaging	0.72
R0302:Trim32	UTSW	4	65,531,491 (GRCm39)	missense	probably damaging	1.00
R0356:Trim32	UTSW	4	65,531,491 (GRCm39)	missense	probably damaging	1.00
R0358:Trim32	UTSW	4	65,531,491 (GRCm39)	missense	probably damaging	1.00
R0497:Trim32	UTSW	4	65,531,491 (GRCm39)	missense	probably damaging	1.00
R0544:Trim32	UTSW	4	65,531,491 (GRCm39)	missense	probably damaging	1.00
R0547:Trim32	UTSW	4	65,531,491 (GRCm39)	missense	probably damaging	1.00
R0611:Trim32	UTSW	4	65,531,893 (GRCm39)	missense	possibly damaging	0.71
R1183:Trim32	UTSW	4	65,532,628 (GRCm39)	missense	probably benign	0.00
R1523:Trim32	UTSW	4	65,532,241 (GRCm39)	missense	probably benign	0.04
R1784:Trim32	UTSW	4	65,532,634 (GRCm39)	missense	probably damaging	0.96
R1939:Trim32	UTSW	4	65,532,303 (GRCm39)	missense	probably benign
R2069:Trim32	UTSW	4	65,533,013 (GRCm39)	nonsense	probably null
R2869:Trim32	UTSW	4	65,532,694 (GRCm39)	missense	probably damaging	1.00
R3875:Trim32	UTSW	4	65,531,703 (GRCm39)	missense	possibly damaging	0.93
R5464:Trim32	UTSW	4	65,532,625 (GRCm39)	missense	probably damaging	1.00
R6246:Trim32	UTSW	4	65,532,801 (GRCm39)	missense	probably damaging	1.00
R6610:Trim32	UTSW	4	65,533,308 (GRCm39)	missense	probably damaging	1.00
R8125:Trim32	UTSW	4	65,532,199 (GRCm39)	missense	probably benign	0.05
R8128:Trim32	UTSW	4	65,531,682 (GRCm39)	missense	probably damaging	1.00
R8430:Trim32	UTSW	4	65,532,943 (GRCm39)	missense	probably damaging	1.00
R8979:Trim32	UTSW	4	65,531,692 (GRCm39)	missense	possibly damaging	0.85
Z1177:Trim32	UTSW	4	65,533,062 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCCAGCAGTGTCTGTTTCTCAAG -3'
(R):5'- ACCACAAACTGGCCAGATGG -3'

Sequencing Primer
(F):5'- AGCAGTGTCTGTTTCTCAAGAAGATG -3'
(R):5'- GATGCCCCATGGTTTGCTCAG -3'

Posted On

2014-12-04