Mutagenetix > Incidental Mutation

Incidental Mutation 'R4886:Trim3'

375719

Institutional Source

Beutler Lab

Gene Symbol

Trim3

Ensembl Gene

ENSMUSG00000036989

Gene Name

tripartite motif-containing 3

Synonyms

BERP1, HAC1, Rnf22

MMRRC Submission

042492-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4886 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105253670-105282778 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105267047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 444 (H444L)

Ref Sequence

ENSEMBL: ENSMUSP00000102403 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057525] [ENSMUST00000106789] [ENSMUST00000106791] [ENSMUST00000147044] [ENSMUST00000153371]

AlphaFold

Q9R1R2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057525
AA Change: H444L

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000053384
Gene: ENSMUSG00000036989
AA Change: H444L

Domain	Start	End	E-Value	Type
RING	22	62	6.43e-8	SMART
BBOX	110	151	7.54e-14	SMART
BBC	158	284	2.55e-42	SMART
IG_FLMN	321	421	1.06e-31	SMART
Pfam:NHL	486	513	2.5e-9	PFAM
Pfam:NHL	533	560	1.9e-9	PFAM
Pfam:NHL	575	602	5.5e-8	PFAM
Pfam:NHL	622	649	1e-10	PFAM
Pfam:NHL	669	696	1.8e-12	PFAM
Pfam:NHL	713	740	1.9e-9	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106789
AA Change: H444L

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102401
Gene: ENSMUSG00000036989
AA Change: H444L

Domain	Start	End	E-Value	Type
RING	22	62	6.43e-8	SMART
BBOX	110	151	7.54e-14	SMART
BBC	158	284	2.55e-42	SMART
IG_FLMN	321	421	1.06e-31	SMART
Pfam:NHL	486	513	1.8e-8	PFAM
Pfam:NHL	533	560	3.9e-10	PFAM
Pfam:NHL	575	602	2.3e-7	PFAM
Pfam:NHL	622	649	3.9e-10	PFAM
Pfam:NHL	669	696	2.2e-12	PFAM
Pfam:NHL	713	740	6.5e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106791
AA Change: H444L

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

SMART Domains

Protein: ENSMUSP00000102403
Gene: ENSMUSG00000036989
AA Change: H444L

Domain	Start	End	E-Value	Type
RING	22	62	6.43e-8	SMART
BBOX	110	151	7.54e-14	SMART
BBC	158	284	2.55e-42	SMART
IG_FLMN	321	421	1.06e-31	SMART
Pfam:NHL	486	513	3.4e-8	PFAM
Pfam:NHL	533	560	7.6e-10	PFAM
Pfam:NHL	575	602	4.4e-7	PFAM
Pfam:NHL	622	649	7.6e-10	PFAM
Pfam:NHL	669	696	2.7e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140882

Predicted Effect

possibly damaging
Transcript: ENSMUST00000147044
AA Change: H444L

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114822
Gene: ENSMUSG00000036989
AA Change: H444L

Domain	Start	End	E-Value	Type
RING	22	62	6.43e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150363

Predicted Effect

probably benign
Transcript: ENSMUST00000153371

SMART Domains

Protein: ENSMUSP00000119910
Gene: ENSMUSG00000036989

Domain	Start	End	E-Value	Type
RING	22	62	6.43e-8	SMART
BBOX	110	157	3.55e-10	SMART
Blast:BBC	164	199	9e-15	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154218

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211532

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.5%

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, also called the 'RING-B-box-coiled-coil' (RBCC) subgroup of RING finger proteins. 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. This protein localizes to cytoplasmic filaments. It is similar to a rat protein which is a specific partner for the tail domain of myosin V, a class of myosins which are involved in the targeted transport of organelles. The rat protein can also interact with alpha-actinin-4. Thus it is suggested that this human protein may play a role in myosin V-mediated cargo transport. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele have decreased susceptibility to pharmacologically induced seizure as well as reduced miniature inhibitory synaptic current amplitude in cortical neurons. Mice homozygous for another null allele are viable and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	A	T	2: 32,464,630 (GRCm39)		probably benign	Het
Aagab	G	C	9: 63,543,738 (GRCm39)	A231P	possibly damaging	Het
Adgra3	C	T	5: 50,156,537 (GRCm39)	D398N	probably benign	Het
Ap3b1	A	T	13: 94,609,313 (GRCm39)	D616V	possibly damaging	Het
Apc2	T	A	10: 80,150,047 (GRCm39)	H1700Q	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp2b4	T	A	1: 133,634,518 (GRCm39)	I1177L	probably benign	Het
Card6	T	C	15: 5,134,623 (GRCm39)		probably null	Het
Cdk13	A	G	13: 17,894,319 (GRCm39)	S1103P	probably benign	Het
Cdk6	G	T	5: 3,394,444 (GRCm39)	K26N	possibly damaging	Het
Cfap221	T	C	1: 119,861,934 (GRCm39)	T614A	probably damaging	Het
Cfap221	T	A	1: 119,912,488 (GRCm39)	Y133F	probably damaging	Het
Clcc1	A	G	3: 108,584,154 (GRCm39)	T513A	probably benign	Het
Clec4g	T	A	8: 3,766,419 (GRCm39)		probably benign	Het
Cntln	A	C	4: 84,889,466 (GRCm39)	E316D	probably benign	Het
Col6a4	A	G	9: 105,937,271 (GRCm39)	I1415T	probably benign	Het
Cpne2	T	A	8: 95,290,592 (GRCm39)	D392E	probably benign	Het
Cpz	T	C	5: 35,664,048 (GRCm39)	N496D	probably damaging	Het
Cyp3a59	A	G	5: 146,024,197 (GRCm39)	D61G	probably damaging	Het
Cyp4a29	T	C	4: 115,110,078 (GRCm39)	V440A	probably benign	Het
Dbn1	A	T	13: 55,625,355 (GRCm39)		probably benign	Het
Ddx46	A	G	13: 55,786,012 (GRCm39)	D64G	unknown	Het
Dhrs7c	G	A	11: 67,700,620 (GRCm39)	V56M	probably damaging	Het
Dnhd1	T	A	7: 105,364,015 (GRCm39)	H4122Q	probably benign	Het
Ecm2	A	T	13: 49,676,263 (GRCm39)	I327F	possibly damaging	Het
Elavl3	T	C	9: 21,937,614 (GRCm39)	K189E	possibly damaging	Het
Enam	A	T	5: 88,636,593 (GRCm39)	R82*	probably null	Het
Fat3	T	A	9: 15,932,626 (GRCm39)	I1436F	probably benign	Het
Glt8d2	T	C	10: 82,487,874 (GRCm39)		probably benign	Het
Grin2c	T	C	11: 115,151,616 (GRCm39)	T115A	probably damaging	Het
H6pd	C	T	4: 150,067,235 (GRCm39)	V384M	possibly damaging	Het
Hba-x	A	G	11: 32,227,008 (GRCm39)	E39G	probably benign	Het
Hcar2	G	A	5: 124,003,260 (GRCm39)	T81M	probably benign	Het
Herpud2	G	A	9: 25,036,285 (GRCm39)	P125L	probably benign	Het
Hnrnpul2	C	T	19: 8,807,191 (GRCm39)	P618S	probably benign	Het
Hpse2	T	C	19: 43,373,203 (GRCm39)	Y142C	probably damaging	Het
Iqcm	A	T	8: 76,615,228 (GRCm39)	R436S	possibly damaging	Het
Itih1	A	G	14: 30,658,658 (GRCm39)		probably null	Het
Kcnk10	T	C	12: 98,401,418 (GRCm39)	N405S	possibly damaging	Het
Klhl14	A	T	18: 21,691,029 (GRCm39)		probably null	Het
L3mbtl3	T	A	10: 26,168,668 (GRCm39)	E587V	unknown	Het
Leap2	A	T	11: 53,313,653 (GRCm39)	F40I	probably damaging	Het
Leng8	T	A	7: 4,147,930 (GRCm39)		probably null	Het
Lrrc66	A	G	5: 73,765,910 (GRCm39)	F378L	probably benign	Het
Mansc1	T	C	6: 134,587,625 (GRCm39)	H184R	probably benign	Het
Map10	T	A	8: 126,397,431 (GRCm39)	Y275N	probably damaging	Het
Med23	T	C	10: 24,750,581 (GRCm39)		probably null	Het
Mpp3	A	G	11: 101,915,962 (GRCm39)	Y55H	probably benign	Het
Mrpl17	T	C	7: 105,459,260 (GRCm39)	N112S	probably benign	Het
Nectin4	T	C	1: 171,212,383 (GRCm39)	V327A	possibly damaging	Het
Nlrp14	A	T	7: 106,781,862 (GRCm39)	H353L	probably benign	Het
Notch2	A	T	3: 98,009,735 (GRCm39)	Y554F	probably damaging	Het
Nphp3	T	C	9: 103,880,193 (GRCm39)	S72P	probably damaging	Het
Nrsn2	T	C	2: 152,211,531 (GRCm39)	K167E	probably benign	Het
Or14j8	A	T	17: 38,262,962 (GRCm39)	S318T	probably benign	Het
Or5b117	T	C	19: 13,431,885 (GRCm39)		probably null	Het
Or8g30	T	C	9: 39,230,881 (GRCm39)	T10A	probably benign	Het
Or9i2	T	A	19: 13,815,643 (GRCm39)	E298V	probably damaging	Het
Osbpl9	T	C	4: 108,925,564 (GRCm39)	N485S	probably benign	Het
Pbk	T	A	14: 66,052,650 (GRCm39)	H164Q	probably damaging	Het
Pfn2	G	T	3: 57,754,874 (GRCm39)	N10K	probably damaging	Het
Pi4ka	A	G	16: 17,176,225 (GRCm39)	S405P		Het
Pik3ca	A	G	3: 32,491,312 (GRCm39)	D133G	probably damaging	Het
Pramel27	G	T	4: 143,579,873 (GRCm39)	R486L	probably benign	Het
Prkar2a	G	A	9: 108,622,823 (GRCm39)		probably null	Het
Prl6a1	A	T	13: 27,502,983 (GRCm39)	D193V	probably damaging	Het
Psg25	A	T	7: 18,258,838 (GRCm39)	D279E	probably benign	Het
Rad21	G	T	15: 51,831,896 (GRCm39)	P395Q	probably damaging	Het
Rnf168	C	A	16: 32,118,014 (GRCm39)	T525K	probably benign	Het
Rpn2	T	C	2: 157,159,964 (GRCm39)		probably null	Het
Rreb1	G	A	13: 38,115,034 (GRCm39)	V798M	possibly damaging	Het
Scgb3a2	C	T	18: 43,899,819 (GRCm39)	P36S	probably damaging	Het
Scn3a	T	C	2: 65,291,376 (GRCm39)	D1790G	probably damaging	Het
Sec24b	A	T	3: 129,777,619 (GRCm39)	H1226Q	probably benign	Het
Sec63	T	A	10: 42,665,389 (GRCm39)	Y106*	probably null	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc12a3	G	A	8: 95,078,438 (GRCm39)		probably null	Het
Slc6a1	T	A	6: 114,279,494 (GRCm39)	I91N	possibly damaging	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Spata1	C	G	3: 146,175,529 (GRCm39)	D326H	probably damaging	Het
St8sia1	G	A	6: 142,859,860 (GRCm39)	L90F	probably damaging	Het
Thsd4	T	A	9: 59,896,313 (GRCm39)	Y657F	probably benign	Het
Thsd7a	A	T	6: 12,327,659 (GRCm39)	C1404*	probably null	Het
Tma16	A	C	8: 66,934,129 (GRCm39)	C75W	probably damaging	Het
Trgv4	T	C	13: 19,369,236 (GRCm39)	V29A	probably benign	Het
Trmt10a	A	T	3: 137,854,146 (GRCm39)	K75*	probably null	Het
Ttn	T	C	2: 76,561,644 (GRCm39)	D28954G	probably damaging	Het
Uggt2	A	G	14: 119,273,376 (GRCm39)		probably null	Het
Vars1	T	A	17: 35,234,702 (GRCm39)	V1177E	probably benign	Het
Vmn2r114	G	T	17: 23,527,008 (GRCm39)	A508E	probably benign	Het
Vmn2r19	G	T	6: 123,286,800 (GRCm39)	K144N	probably benign	Het
Wdr41	C	T	13: 95,151,682 (GRCm39)	Q281*	probably null	Het
Zfp938	T	A	10: 82,061,957 (GRCm39)	Q221L	probably benign	Het

Other mutations in Trim3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01308:Trim3	APN	7	105,266,676 (GRCm39)	missense	probably damaging	1.00
IGL01543:Trim3	APN	7	105,262,520 (GRCm39)	missense	probably damaging	1.00
IGL01573:Trim3	APN	7	105,274,700 (GRCm39)	missense	possibly damaging	0.62
IGL01995:Trim3	APN	7	105,267,689 (GRCm39)	splice site	probably benign
IGL02407:Trim3	APN	7	105,262,218 (GRCm39)	missense	probably benign	0.44
IGL02868:Trim3	APN	7	105,262,239 (GRCm39)	missense	possibly damaging	0.82
IGL02837:Trim3	UTSW	7	105,261,863 (GRCm39)	missense	probably damaging	1.00
PIT4514001:Trim3	UTSW	7	105,267,417 (GRCm39)	missense	probably benign	0.08
R1013:Trim3	UTSW	7	105,267,102 (GRCm39)	missense	probably benign	0.10
R2296:Trim3	UTSW	7	105,262,481 (GRCm39)	missense	probably damaging	1.00
R3724:Trim3	UTSW	7	105,260,396 (GRCm39)	missense	probably damaging	1.00
R4028:Trim3	UTSW	7	105,267,452 (GRCm39)	missense	probably benign	0.04
R4347:Trim3	UTSW	7	105,268,594 (GRCm39)	missense	probably damaging	1.00
R4383:Trim3	UTSW	7	105,267,606 (GRCm39)	missense	probably damaging	1.00
R4475:Trim3	UTSW	7	105,267,009 (GRCm39)	missense	probably damaging	1.00
R4567:Trim3	UTSW	7	105,262,623 (GRCm39)	missense	possibly damaging	0.88
R4981:Trim3	UTSW	7	105,268,335 (GRCm39)	missense	probably damaging	0.99
R5053:Trim3	UTSW	7	105,266,968 (GRCm39)	missense	probably damaging	1.00
R5190:Trim3	UTSW	7	105,268,716 (GRCm39)	missense	probably damaging	1.00
R5230:Trim3	UTSW	7	105,268,720 (GRCm39)	missense	possibly damaging	0.81
R5364:Trim3	UTSW	7	105,268,276 (GRCm39)	missense	probably damaging	0.96
R5382:Trim3	UTSW	7	105,267,554 (GRCm39)	missense	probably benign	0.10
R5712:Trim3	UTSW	7	105,268,743 (GRCm39)	missense	probably damaging	0.99
R5725:Trim3	UTSW	7	105,266,947 (GRCm39)	critical splice donor site	probably null
R5915:Trim3	UTSW	7	105,267,182 (GRCm39)	missense	possibly damaging	0.82
R6058:Trim3	UTSW	7	105,260,278 (GRCm39)	missense	probably damaging	0.98
R6073:Trim3	UTSW	7	105,266,746 (GRCm39)	missense	probably damaging	1.00
R6430:Trim3	UTSW	7	105,267,212 (GRCm39)	missense	probably benign	0.20
R6589:Trim3	UTSW	7	105,267,167 (GRCm39)	missense	probably damaging	1.00
R7044:Trim3	UTSW	7	105,267,421 (GRCm39)	missense	probably damaging	0.97
R7207:Trim3	UTSW	7	105,262,583 (GRCm39)	missense	possibly damaging	0.87
R7326:Trim3	UTSW	7	105,267,007 (GRCm39)	nonsense	probably null
R7454:Trim3	UTSW	7	105,268,765 (GRCm39)	missense	probably damaging	1.00
R7459:Trim3	UTSW	7	105,267,015 (GRCm39)	missense	probably damaging	1.00
R8044:Trim3	UTSW	7	105,262,465 (GRCm39)	synonymous	silent
R8202:Trim3	UTSW	7	105,260,632 (GRCm39)	missense	possibly damaging	0.68
R9343:Trim3	UTSW	7	105,260,673 (GRCm39)	missense	probably benign	0.10
R9667:Trim3	UTSW	7	105,267,455 (GRCm39)	missense	possibly damaging	0.78
R9775:Trim3	UTSW	7	105,260,377 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGATTAGTTTGAGCCTCGCTTC -3'
(R):5'- TACGAGCTGGTGTACACTGC -3'

Sequencing Primer
(F):5'- TCCCCAAACCCCTGTCTGAG -3'
(R):5'- GTGTACACTGCACGCACAG -3'

Posted On

2016-03-17