Mutagenetix > Incidental Mutation

Incidental Mutation 'R0358:Trim32'

65640

Institutional Source

Beutler Lab

Gene Symbol

Trim32

Ensembl Gene

ENSMUSG00000051675

Gene Name

tripartite motif-containing 32

Synonyms

3f3, Zfp117, 1810045E12Rik, BBS11

MMRRC Submission

038564-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.873) question?

Stock #

R0358 (G1)

Quality Score

121

Status

Validated

Chromosome

Chromosomal Location

65523223-65534475 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 65531491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 16 (R16Q)

Ref Sequence

ENSEMBL: ENSMUSP00000119579 (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: R16Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000062277
Gene: ENSMUSG00000051675
AA Change: R16Q

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: R16Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102989
Gene: ENSMUSG00000051675
AA Change: R16Q

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 damaging
Transcript: ENSMUST00000155978
AA Change: R16Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119579
Gene: ENSMUSG00000051675
AA Change: R16Q

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156922
AA Change: R16Q

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121949
Gene: ENSMUSG00000051675
AA Change: R16Q

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

Meta Mutation Damage Score

0.1654

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.2%
20x: 88.5%

Validation Efficiency

100% (64/64)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	G	A	17: 79,935,585 (GRCm39)		probably benign	Het
Abca16	A	T	7: 120,143,939 (GRCm39)	K1651N	probably benign	Het
Abcb1b	T	C	5: 8,871,423 (GRCm39)	S326P	probably benign	Het
Ache	A	G	5: 137,288,635 (GRCm39)	T114A	probably benign	Het
Akap3	T	A	6: 126,843,775 (GRCm39)	V798D	probably damaging	Het
Ankle1	A	G	8: 71,860,189 (GRCm39)	T256A	probably damaging	Het
Aqp4	T	C	18: 15,531,302 (GRCm39)	N153S	probably benign	Het
Arhgap23	G	A	11: 97,354,414 (GRCm39)	V265M	probably damaging	Het
Arhgef25	A	T	10: 127,020,322 (GRCm39)	M326K	probably damaging	Het
Atp6v1c2	T	C	12: 17,334,961 (GRCm39)		probably benign	Het
Cars1	A	T	7: 143,142,219 (GRCm39)		probably benign	Het
Cep83	A	T	10: 94,555,593 (GRCm39)	M96L	probably benign	Het
Cfap46	A	G	7: 139,231,449 (GRCm39)		probably benign	Het
Cnnm3	T	A	1: 36,560,303 (GRCm39)	S608T	probably damaging	Het
Cul7	G	A	17: 46,974,670 (GRCm39)		probably null	Het
Dhrs2	G	A	14: 55,473,574 (GRCm39)	V78M	probably damaging	Het
Dhx38	A	T	8: 110,279,094 (GRCm39)	D1051E	probably benign	Het
Eftud2	A	G	11: 102,755,627 (GRCm39)		probably benign	Het
Egln3	T	C	12: 54,250,082 (GRCm39)	E89G	possibly damaging	Het
Eif2ak4	A	G	2: 118,294,410 (GRCm39)		probably null	Het
Fbxl17	G	A	17: 63,663,846 (GRCm39)	R67C	probably damaging	Het
Fsip2	A	T	2: 82,813,677 (GRCm39)	N3332I	possibly damaging	Het
Gbp2b	A	T	3: 142,312,550 (GRCm39)	E311V	probably damaging	Het
Gcnt2	G	T	13: 41,014,329 (GRCm39)	A167S	probably damaging	Het
Gm9797	A	T	10: 11,485,088 (GRCm39)		noncoding transcript	Het
Gpatch3	A	G	4: 133,305,215 (GRCm39)		probably null	Het
Gpr22	T	C	12: 31,759,981 (GRCm39)	N47S	probably benign	Het
Il18rap	A	T	1: 40,588,202 (GRCm39)	H600L	possibly damaging	Het
Larp7	A	G	3: 127,340,737 (GRCm39)		probably null	Het
Mep1a	A	G	17: 43,789,841 (GRCm39)	Y490H	possibly damaging	Het
Mrgprh	T	A	17: 13,096,237 (GRCm39)	V159D	probably damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Nrbp1	T	A	5: 31,402,231 (GRCm39)	I64N	probably damaging	Het
Nup214	G	A	2: 31,894,312 (GRCm39)		probably null	Het
Or10d1b	A	G	9: 39,613,297 (GRCm39)	I256T	possibly damaging	Het
Or13a21	G	T	7: 139,998,856 (GRCm39)	L277M	probably damaging	Het
Or2o1	T	A	11: 49,051,071 (GRCm39)	C77S	probably benign	Het
Or4k15b	A	T	14: 50,272,743 (GRCm39)	L39Q	probably damaging	Het
Pef1	A	G	4: 130,021,180 (GRCm39)	T245A	probably damaging	Het
Phrf1	A	G	7: 140,838,217 (GRCm39)		probably benign	Het
Ppig	A	G	2: 69,573,942 (GRCm39)		probably benign	Het
Ppp1r8	G	T	4: 132,562,039 (GRCm39)	F60L	probably damaging	Het
Psmd11	G	A	11: 80,353,510 (GRCm39)		probably benign	Het
Ptk6	G	T	2: 180,840,315 (GRCm39)	H230Q	probably benign	Het
Ptprd	T	C	4: 75,863,226 (GRCm39)	Y1496C	probably damaging	Het
Rhbdl3	G	T	11: 80,244,457 (GRCm39)	W388L	probably damaging	Het
Rnf130	T	A	11: 49,962,109 (GRCm39)	M185K	probably benign	Het
S100a13	A	T	3: 90,423,299 (GRCm39)	I97F	probably damaging	Het
Slc22a16	T	G	10: 40,463,488 (GRCm39)		probably null	Het
Tcte1	A	T	17: 45,846,211 (GRCm39)	T272S	probably benign	Het
Terf1	T	C	1: 15,876,062 (GRCm39)	V54A	possibly damaging	Het
Tmem63a	T	A	1: 180,783,988 (GRCm39)	N189K	probably benign	Het
Trim66	G	A	7: 109,059,383 (GRCm39)	Q954*	probably null	Het
Trpv4	A	G	5: 114,768,493 (GRCm39)	F525S	probably damaging	Het
Ttll7	A	G	3: 146,649,871 (GRCm39)	T634A	probably benign	Het
Tut7	T	C	13: 59,929,918 (GRCm39)	D47G	probably damaging	Het
Ush2a	T	G	1: 188,269,977 (GRCm39)	N1741K	possibly damaging	Het
Wdr87-ps	A	T	7: 29,231,636 (GRCm39)		noncoding transcript	Het
Zfp451	T	A	1: 33,816,810 (GRCm39)	H163L	probably damaging	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
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
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

Posted On

2013-08-08