Mutagenetix > Incidental Mutation

Incidental Mutation 'R0547:Trim32'

44891

Institutional Source

Beutler Lab

Gene Symbol

Trim32

Ensembl Gene

ENSMUSG00000051675

Gene Name

tripartite motif-containing 32

Synonyms

3f3, Zfp117, 1810045E12Rik, BBS11

MMRRC Submission

038739-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.866) question?

Stock #

R0547 (G1)

Quality Score

182

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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

98% (57/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057N15Rik	A	G	16: 88,570,498 (GRCm39)	Y181H	probably benign	Het
A530084C06Rik	A	G	13: 31,742,813 (GRCm39)		probably benign	Het
Adamtsl1	A	G	4: 86,274,592 (GRCm39)	D1208G	probably benign	Het
Ankrd55	T	C	13: 112,504,757 (GRCm39)	F501S	probably benign	Het
Aox1	G	A	1: 58,349,201 (GRCm39)	D656N	probably damaging	Het
Atr	A	T	9: 95,781,218 (GRCm39)		probably benign	Het
Bicra	G	A	7: 15,706,173 (GRCm39)	R1423W	probably damaging	Het
Cabyr	T	A	18: 12,884,073 (GRCm39)	S187T	probably benign	Het
Car5b	G	A	X: 162,762,297 (GRCm39)	R282C	probably damaging	Het
Cdon	A	T	9: 35,368,794 (GRCm39)	T343S	possibly damaging	Het
Cep350	C	T	1: 155,777,181 (GRCm39)		probably null	Het
Cimap1a	A	G	7: 140,428,728 (GRCm39)		probably null	Het
Copa	T	C	1: 171,949,254 (GRCm39)		probably benign	Het
Cyp4f18	T	C	8: 72,749,854 (GRCm39)	D265G	probably benign	Het
Dgkb	T	A	12: 38,654,157 (GRCm39)	C759S	probably benign	Het
Dnah6	T	C	6: 73,021,757 (GRCm39)	M3470V	probably benign	Het
Eif4g2	T	C	7: 110,677,500 (GRCm39)	N177S	probably damaging	Het
Etfb	C	T	7: 43,104,002 (GRCm39)	Q145*	probably null	Het
Flnb	T	A	14: 7,912,943 (GRCm38)		probably null	Het
G430095P16Rik	G	A	8: 85,453,271 (GRCm39)		probably benign	Het
Gfral	A	T	9: 76,115,924 (GRCm39)	S17T	probably benign	Het
Gpr26	T	C	7: 131,586,026 (GRCm39)	I332T	probably benign	Het
Greb1	T	A	12: 16,773,412 (GRCm39)	T221S	probably benign	Het
Haus5	A	T	7: 30,358,508 (GRCm39)	S289T	probably damaging	Het
Ighv6-4	T	C	12: 114,370,221 (GRCm39)	Y77C	probably damaging	Het
Il23r	A	T	6: 67,400,685 (GRCm39)	D548E	probably benign	Het
Il23r	A	T	6: 67,463,235 (GRCm39)	F86Y	possibly damaging	Het
Inppl1	A	T	7: 101,480,210 (GRCm39)	M424K	probably benign	Het
Jam3	A	G	9: 27,010,184 (GRCm39)	Y267H	probably damaging	Het
Lrrc37	T	C	11: 103,510,990 (GRCm39)	N326S	unknown	Het
Mms19	A	T	19: 41,951,857 (GRCm39)	M160K	probably damaging	Het
Muc2	CGTG	CGTGTG	7: 141,699,185 (GRCm38)		probably null	Het
Mup5	A	G	4: 61,751,237 (GRCm39)	L137P	probably damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Ntrk2	G	A	13: 59,022,184 (GRCm39)	S413N	probably damaging	Het
Nuak2	C	A	1: 132,259,941 (GRCm39)	T573N	probably benign	Het
Or4m1	A	T	14: 50,557,575 (GRCm39)	I239K	probably benign	Het
Or52h9	G	A	7: 104,202,563 (GRCm39)	V146M	probably benign	Het
Padi4	GCTGCGTACCTCCAC	GC	4: 140,475,760 (GRCm39)		probably benign	Het
Pclo	T	A	5: 14,842,086 (GRCm39)	I4787N	unknown	Het
Pde8a	G	T	7: 80,973,878 (GRCm39)	V612L	probably benign	Het
Pear1	A	T	3: 87,696,107 (GRCm39)		probably null	Het
Pgbd1	A	G	13: 21,607,688 (GRCm39)	Y169H	probably damaging	Het
Pkd1l1	A	G	11: 8,786,448 (GRCm39)		probably benign	Het
Prkag3	C	T	1: 74,783,879 (GRCm39)		probably null	Het
Rsph9	A	T	17: 46,455,050 (GRCm39)	S9T	possibly damaging	Het
Rxfp1	A	T	3: 79,612,876 (GRCm39)		probably null	Het
Senp7	A	G	16: 55,996,189 (GRCm39)	E756G	probably damaging	Het
Serpina1e	G	T	12: 103,915,450 (GRCm39)	T252K	probably benign	Het
Sipa1l1	T	A	12: 82,484,510 (GRCm39)	S1555T	probably benign	Het
Slain1	T	C	14: 103,932,711 (GRCm39)	S432P	probably damaging	Het
Slc37a2	A	T	9: 37,144,418 (GRCm39)		probably null	Het
Thg1l	C	T	11: 45,845,018 (GRCm39)	R18Q	probably damaging	Het
Tnn	A	G	1: 159,943,907 (GRCm39)		probably benign	Het
Tshz3	A	G	7: 36,470,842 (GRCm39)	T944A	probably damaging	Het
Ttn	C	G	2: 76,684,774 (GRCm39)		probably benign	Het
Ythdc2	T	C	18: 44,973,331 (GRCm39)	S323P	possibly damaging	Het
Zfp827	A	G	8: 79,786,939 (GRCm39)	N35S	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
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
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

PCR Primer
(F):5'- TAGCCTTACCCAGTTGTCAGGCTC -3'
(R):5'- ATCTTCAGCACCGTCAGGTTGTCG -3'

Sequencing Primer
(F):5'- gtgtgtatgtAAGGGGAGGG -3'
(R):5'- CCGTCAGGTTGTCGGTCAG -3'

Posted On

2013-06-11