Mutagenetix > Incidental Mutation

Incidental Mutation 'R4769:Trim45'

366317

Institutional Source

Beutler Lab

Gene Symbol

Trim45

Ensembl Gene

ENSMUSG00000033233

Gene Name

tripartite motif-containing 45

Synonyms

4921530N01Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4769 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100922202-100936920 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

C to A at 100931734 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102593 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037409] [ENSMUST00000094048] [ENSMUST00000106980] [ENSMUST00000134993]

AlphaFold

Q6PFY8

Predicted Effect

probably benign
Transcript: ENSMUST00000037409

SMART Domains

Protein: ENSMUSP00000043389
Gene: ENSMUSG00000033233

Domain	Start	End	E-Value	Type
RING	29	97	5.35e-5	SMART
BBOX	130	176	1.03e-1	SMART
BBOX	186	227	4.34e-5	SMART
BBC	234	360	3.55e-9	SMART
IG_FLMN	398	500	7.63e-33	SMART
low complexity region	532	549	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000094048

SMART Domains

Protein: ENSMUSP00000091590
Gene: ENSMUSG00000033233

Domain	Start	End	E-Value	Type
BBOX	81	127	1.03e-1	SMART
BBOX	137	178	4.34e-5	SMART
BBC	185	311	3.55e-9	SMART
IG_FLMN	349	451	7.63e-33	SMART
low complexity region	483	500	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106980

SMART Domains

Protein: ENSMUSP00000102593
Gene: ENSMUSG00000033233

Domain	Start	End	E-Value	Type
RING	29	97	5.35e-5	SMART
BBOX	130	176	1.03e-1	SMART
BBOX	186	227	4.34e-5	SMART
BBC	234	360	3.55e-9	SMART
IG_FLMN	398	500	7.63e-33	SMART
low complexity region	532	549	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000134993
AA Change: H651N

SMART Domains

Protein: ENSMUSP00000115669
Gene: ENSMUSG00000033233
AA Change: H651N

Domain	Start	End	E-Value	Type
RING	29	97	5.35e-5	SMART
BBOX	130	176	1.03e-1	SMART
BBOX	186	227	4.34e-5	SMART
BBC	234	360	3.55e-9	SMART
IG_FLMN	398	500	7.63e-33	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000163914
AA Change: H651N

SMART Domains

Protein: ENSMUSP00000129861
Gene: ENSMUSG00000033233
AA Change: H651N

Domain	Start	End	E-Value	Type
RING	29	97	5.35e-5	SMART
BBOX	130	176	1.03e-1	SMART
BBOX	186	227	4.34e-5	SMART
BBC	234	360	3.55e-9	SMART
IG_FLMN	398	500	7.63e-33	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tripartite motif family. The encoded protein may function as a transcriptional repressor of the mitogen-activated protein kinase pathway. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2009]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	C	14: 32,660,217	S1264A	probably benign	Het
Adamts13	T	G	2: 27,008,711	Y1361*	probably null	Het
Ahrr	A	T	13: 74,214,212	D389E	probably damaging	Het
Alx3	T	C	3: 107,600,691	F172S	probably damaging	Het
Antxrl	A	G	14: 34,073,070	H485R	possibly damaging	Het
Aox4	A	G	1: 58,259,148	D1091G	probably null	Het
Btbd1	T	A	7: 81,805,810	Q271L	probably benign	Het
Cd209c	A	T	8: 3,944,953	N70K	probably benign	Het
Cdc14a	C	T	3: 116,294,750		probably null	Het
Cenpe	A	G	3: 135,248,151	M1641V	probably benign	Het
Clec2e	G	A	6: 129,100,827	T16I	probably benign	Het
Clp1	T	C	2: 84,725,875	D87G	possibly damaging	Het
Dpy19l1	A	T	9: 24,426,148	F517I	probably damaging	Het
Dzip3	T	C	16: 48,938,474	N646S	probably damaging	Het
Ephx1	T	A	1: 180,995,978	Y188F	possibly damaging	Het
Etfa	A	T	9: 55,495,767	H81Q	possibly damaging	Het
Gigyf2	T	A	1: 87,440,849	F1084I	probably damaging	Het
Heatr3	T	C	8: 88,141,783		probably null	Het
Ift81	G	T	5: 122,594,593	H293N	probably benign	Het
Igkv9-120	G	T	6: 68,050,367	R88S	possibly damaging	Het
Il6	T	G	5: 30,018,078	L114*	probably null	Het
Ism2	A	T	12: 87,299,581	M42K	probably benign	Het
Lhx5	A	G	5: 120,436,438	E269G	probably benign	Het
Marveld1	T	G	19: 42,147,995	M116R	possibly damaging	Het
Micall2	A	G	5: 139,706,886	S911P	probably damaging	Het
Mier1	G	A	4: 103,140,220	R195H	probably benign	Het
Muc2	T	A	7: 141,699,691		probably null	Het
Mybbp1a	A	G	11: 72,445,640	K486R	probably damaging	Het
Ncapd2	A	C	6: 125,185,745	L179R	probably damaging	Het
Nos1	C	T	5: 117,943,245	Q1171*	probably null	Het
Nrg1	T	A	8: 31,917,972	I78F	probably damaging	Het
Olfr1163	T	G	2: 88,070,729	T218P	probably benign	Het
Olfr220	T	G	1: 174,448,958	F112V	possibly damaging	Het
Plek2	C	T	12: 78,906,890		probably null	Het
Plod2	A	G	9: 92,595,272	H339R	probably damaging	Het
Pold1	C	T	7: 44,535,071	C835Y	probably damaging	Het
Polr1a	A	G	6: 71,950,868	I868V	probably benign	Het
Prss54	C	A	8: 95,559,375	V357L	probably benign	Het
Rbbp8	T	A	18: 11,722,670	S625T	probably damaging	Het
Rgs1	A	T	1: 144,247,929	L86Q	probably damaging	Het
Ripk4	T	A	16: 97,744,062	N462Y	probably damaging	Het
Rsf1	C	T	7: 97,676,222	L1011F	probably damaging	Het
Slc19a3	G	A	1: 83,019,341	T382I	probably damaging	Het
Slc9a2	G	A	1: 40,726,374	R308Q	probably damaging	Het
Top2b	T	A	14: 16,398,991	L537Q	probably damaging	Het
Umodl1	G	T	17: 30,984,002	R443M	possibly damaging	Het
Vmn1r11	G	A	6: 57,137,612	R87K	probably damaging	Het
Vmn1r78	T	A	7: 12,152,798	I112N	probably damaging	Het
Zeb2	T	G	2: 44,996,435	E825A	probably damaging	Het
Zfp930	A	T	8: 69,226,692	I50F	probably benign	Het

Other mutations in Trim45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00802:Trim45	APN	3	100931726	intron	probably benign
IGL01472:Trim45	APN	3	100928065	missense	probably benign	0.00
IGL01996:Trim45	APN	3	100928109	nonsense	probably null	0.00
IGL02392:Trim45	APN	3	100925305	missense	probably benign	0.04
IGL03229:Trim45	APN	3	100923069	missense	probably damaging	1.00
IGL02837:Trim45	UTSW	3	100931627	intron	probably benign
R0021:Trim45	UTSW	3	100925420	missense	probably damaging	1.00
R0243:Trim45	UTSW	3	100929844	missense	probably benign	0.05
R0501:Trim45	UTSW	3	100923219	missense	probably damaging	1.00
R1222:Trim45	UTSW	3	100927298	missense	probably benign	0.14
R1418:Trim45	UTSW	3	100927298	missense	probably benign	0.14
R1813:Trim45	UTSW	3	100922967	missense	probably benign	0.16
R2148:Trim45	UTSW	3	100932044	nonsense	probably null
R2383:Trim45	UTSW	3	100925227	missense	probably damaging	0.97
R4368:Trim45	UTSW	3	100923186	missense	probably damaging	1.00
R4840:Trim45	UTSW	3	100925488	missense	possibly damaging	0.95
R5030:Trim45	UTSW	3	100928072	missense	probably damaging	1.00
R5272:Trim45	UTSW	3	100929919	missense	probably damaging	1.00
R5298:Trim45	UTSW	3	100925471	missense	probably damaging	1.00
R5498:Trim45	UTSW	3	100925141	missense	possibly damaging	0.67
R5589:Trim45	UTSW	3	100929941	missense	probably damaging	1.00
R6537:Trim45	UTSW	3	100925396	missense	probably benign	0.39
R6850:Trim45	UTSW	3	100923225	nonsense	probably null
R7009:Trim45	UTSW	3	100931879	intron	probably benign
R7122:Trim45	UTSW	3	100932037	missense	unknown
R7583:Trim45	UTSW	3	100925023	missense	probably damaging	1.00
R8358:Trim45	UTSW	3	100927318	missense	probably damaging	0.98
R8368:Trim45	UTSW	3	100923356	missense	possibly damaging	0.61
R8924:Trim45	UTSW	3	100928078	missense	probably damaging	1.00
R8998:Trim45	UTSW	3	100931644	missense	unknown
R8999:Trim45	UTSW	3	100931644	missense	unknown
R9069:Trim45	UTSW	3	100925124	nonsense	probably null
R9368:Trim45	UTSW	3	100925003	missense	possibly damaging	0.51
R9594:Trim45	UTSW	3	100922949	missense	probably benign	0.00
R9634:Trim45	UTSW	3	100931990	missense	unknown
R9651:Trim45	UTSW	3	100925389	nonsense	probably null
X0066:Trim45	UTSW	3	100931767	intron	probably benign
Z1088:Trim45	UTSW	3	100925640	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- TCATTGAGAAGTCCGAGTGC -3'
(R):5'- ACTCTAGCTCGGGGTAAACC -3'

Sequencing Primer
(F):5'- AGGAGTCTGCTTAGGACCG -3'
(R):5'- ACCGGAGAGGCTGCAACAC -3'

Posted On

2015-12-21