Mutagenetix > Incidental Mutation

Incidental Mutation 'R9594:Trim45'

723144

Institutional Source

Beutler Lab

Gene Symbol

Trim45

Ensembl Gene

ENSMUSG00000033233

Gene Name

tripartite motif-containing 45

Synonyms

4921530N01Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9594 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100829518-100844236 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100830265 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 13 (H13R)

Ref Sequence

ENSEMBL: ENSMUSP00000115669 (fasta)

Gene Model

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

AlphaFold

Q6PFY8

Predicted Effect

probably benign
Transcript: ENSMUST00000037409
AA Change: H13R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043389
Gene: ENSMUSG00000033233
AA Change: H13R

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
AA Change: H13R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102593
Gene: ENSMUSG00000033233
AA Change: H13R

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: ENSMUST00000134993
AA Change: H13R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000115669
Gene: ENSMUSG00000033233
AA Change: H13R

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aida	T	C	1: 183,095,012 (GRCm39)	V151A	possibly damaging	Het
Akap3	T	C	6: 126,842,377 (GRCm39)	V332A	probably damaging	Het
Apobec3	T	A	15: 79,790,653 (GRCm39)	W332R		Het
Atf6	A	G	1: 170,668,402 (GRCm39)	V166A	probably benign	Het
Bcl6b	A	G	11: 70,118,858 (GRCm39)		probably null	Het
Brd3	G	T	2: 27,340,373 (GRCm39)	P612Q	probably damaging	Het
Btg1	T	A	10: 96,453,263 (GRCm39)	L26H	probably damaging	Het
Btg4	A	G	9: 51,030,560 (GRCm39)	D220G	probably damaging	Het
Cd209e	T	C	8: 3,901,183 (GRCm39)	D157G	probably benign	Het
Cdhr18	A	T	14: 13,814,959 (GRCm38)	L858Q	unknown	Het
Cimip2b	T	G	4: 43,427,329 (GRCm39)	T332P	unknown	Het
Dnah10	T	C	5: 124,907,107 (GRCm39)	L4269P	probably damaging	Het
Dync1li2	C	A	8: 105,154,752 (GRCm39)	K285N	possibly damaging	Het
Ehmt2	C	A	17: 35,118,740 (GRCm39)	Q198K	possibly damaging	Het
Foxn3	C	A	12: 99,359,294 (GRCm39)		probably benign	Het
Fstl4	C	T	11: 52,664,694 (GRCm39)	P8L	probably benign	Het
G6pc1	T	C	11: 101,258,660 (GRCm39)	I13T	possibly damaging	Het
Ghrhr	A	G	6: 55,362,470 (GRCm39)	I356V	probably benign	Het
Gm14410	A	T	2: 176,885,773 (GRCm39)	C164S	probably damaging	Het
Gpcpd1	A	T	2: 132,388,848 (GRCm39)	M308K	possibly damaging	Het
Gpr143	GTTTTTT	GTTTTTTT	X: 151,578,627 (GRCm39)		probably null	Het
Gpr179	T	C	11: 97,225,727 (GRCm39)	K2143E	probably benign	Het
Grm2	G	A	9: 106,524,408 (GRCm39)	T298I	probably damaging	Het
H2-T24	A	T	17: 36,326,455 (GRCm39)	L148Q	probably damaging	Het
Hcn2	C	T	10: 79,560,559 (GRCm39)	R297C	probably damaging	Het
Hic1	T	C	11: 75,056,757 (GRCm39)	T711A	possibly damaging	Het
Ide	T	C	19: 37,264,514 (GRCm39)	D672G		Het
Impg1	A	G	9: 80,288,923 (GRCm39)	F378S	probably damaging	Het
Lipe	T	C	7: 25,098,128 (GRCm39)		probably benign	Het
Lmo7	A	G	14: 102,156,136 (GRCm39)	D1270G	probably null	Het
Mbnl1	A	T	3: 60,520,859 (GRCm39)	H149L	probably damaging	Het
Mmel1	T	C	4: 154,978,592 (GRCm39)	Y675H	probably benign	Het
Mrfap1	C	A	5: 36,953,807 (GRCm39)	R44L	probably damaging	Het
Nherf2	G	T	17: 24,868,922 (GRCm39)	T68K	probably damaging	Het
Notch2	A	G	3: 98,041,889 (GRCm39)	T1303A	possibly damaging	Het
Olfm3	A	G	3: 114,883,785 (GRCm39)	D62G	probably damaging	Het
Or10ak13	T	C	4: 118,638,952 (GRCm39)	I277V	probably benign	Het
Or2i1	C	G	17: 37,508,308 (GRCm39)	A109P	possibly damaging	Het
Or5g27	C	T	2: 85,409,882 (GRCm39)	Q100*	probably null	Het
Or5l13	T	C	2: 87,780,544 (GRCm39)	E11G	probably damaging	Het
Or5p59	T	G	7: 107,702,663 (GRCm39)	I49S	probably damaging	Het
Or6c8b	T	A	10: 128,882,354 (GRCm39)	I193F	probably benign	Het
Pcbd2	A	G	13: 55,880,849 (GRCm39)	Y68C	probably benign	Het
Phf3	G	C	1: 30,869,003 (GRCm39)	Q682E	probably benign	Het
Ptpn6	C	A	6: 124,704,728 (GRCm39)	R294L	probably benign	Het
Ptprz1	T	A	6: 23,025,026 (GRCm39)	V1754D	probably damaging	Het
Rab36	T	A	10: 74,887,873 (GRCm39)	I248K	probably damaging	Het
Rabac1	A	G	7: 24,671,579 (GRCm39)	Y114H	probably benign	Het
Rag1	A	G	2: 101,474,701 (GRCm39)	V147A	probably benign	Het
Rnf150	T	A	8: 83,717,144 (GRCm39)	V217D	probably damaging	Het
Scarf2	G	T	16: 17,620,473 (GRCm39)	C101F	probably damaging	Het
Sh3glb2	C	T	2: 30,236,672 (GRCm39)	R230Q	probably damaging	Het
Slc13a1	A	G	6: 24,089,100 (GRCm39)	V550A	probably damaging	Het
Sp140	A	G	1: 85,560,235 (GRCm39)	N289S	possibly damaging	Het
Spmip6	T	C	4: 41,505,091 (GRCm39)	E207G		Het
Stac3	T	A	10: 127,338,654 (GRCm39)	M1K	probably null	Het
Stk31	C	T	6: 49,424,221 (GRCm39)	T845I	possibly damaging	Het
Sufu	T	C	19: 46,385,674 (GRCm39)	Y45H	probably damaging	Het
Tg	T	A	15: 66,607,109 (GRCm39)	C1834*	probably null	Het
Tns3	G	A	11: 8,401,142 (GRCm39)	T1052M	possibly damaging	Het
Tpcn1	T	C	5: 120,686,021 (GRCm39)	T427A	possibly damaging	Het
Trpv5	A	G	6: 41,647,773 (GRCm39)	F347L	probably benign	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Zfp236	G	T	18: 82,664,238 (GRCm39)	Q516K	probably damaging	Het

Other mutations in Trim45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00802:Trim45	APN	3	100,839,042 (GRCm39)	intron	probably benign
IGL01472:Trim45	APN	3	100,835,381 (GRCm39)	missense	probably benign	0.00
IGL01996:Trim45	APN	3	100,835,425 (GRCm39)	nonsense	probably null	0.00
IGL02392:Trim45	APN	3	100,832,621 (GRCm39)	missense	probably benign	0.04
IGL03229:Trim45	APN	3	100,830,385 (GRCm39)	missense	probably damaging	1.00
IGL02837:Trim45	UTSW	3	100,838,943 (GRCm39)	intron	probably benign
R0021:Trim45	UTSW	3	100,832,736 (GRCm39)	missense	probably damaging	1.00
R0243:Trim45	UTSW	3	100,837,160 (GRCm39)	missense	probably benign	0.05
R0501:Trim45	UTSW	3	100,830,535 (GRCm39)	missense	probably damaging	1.00
R1222:Trim45	UTSW	3	100,834,614 (GRCm39)	missense	probably benign	0.14
R1418:Trim45	UTSW	3	100,834,614 (GRCm39)	missense	probably benign	0.14
R1813:Trim45	UTSW	3	100,830,283 (GRCm39)	missense	probably benign	0.16
R2148:Trim45	UTSW	3	100,839,360 (GRCm39)	nonsense	probably null
R2383:Trim45	UTSW	3	100,832,543 (GRCm39)	missense	probably damaging	0.97
R4368:Trim45	UTSW	3	100,830,502 (GRCm39)	missense	probably damaging	1.00
R4769:Trim45	UTSW	3	100,839,050 (GRCm39)	intron	probably benign
R4840:Trim45	UTSW	3	100,832,804 (GRCm39)	missense	possibly damaging	0.95
R5030:Trim45	UTSW	3	100,835,388 (GRCm39)	missense	probably damaging	1.00
R5272:Trim45	UTSW	3	100,837,235 (GRCm39)	missense	probably damaging	1.00
R5298:Trim45	UTSW	3	100,832,787 (GRCm39)	missense	probably damaging	1.00
R5498:Trim45	UTSW	3	100,832,457 (GRCm39)	missense	possibly damaging	0.67
R5589:Trim45	UTSW	3	100,837,257 (GRCm39)	missense	probably damaging	1.00
R6537:Trim45	UTSW	3	100,832,712 (GRCm39)	missense	probably benign	0.39
R6850:Trim45	UTSW	3	100,830,541 (GRCm39)	nonsense	probably null
R7009:Trim45	UTSW	3	100,839,195 (GRCm39)	intron	probably benign
R7122:Trim45	UTSW	3	100,839,353 (GRCm39)	missense	unknown
R7583:Trim45	UTSW	3	100,832,339 (GRCm39)	missense	probably damaging	1.00
R8358:Trim45	UTSW	3	100,834,634 (GRCm39)	missense	probably damaging	0.98
R8368:Trim45	UTSW	3	100,830,672 (GRCm39)	missense	possibly damaging	0.61
R8924:Trim45	UTSW	3	100,835,394 (GRCm39)	missense	probably damaging	1.00
R8998:Trim45	UTSW	3	100,838,960 (GRCm39)	missense	unknown
R8999:Trim45	UTSW	3	100,838,960 (GRCm39)	missense	unknown
R9069:Trim45	UTSW	3	100,832,440 (GRCm39)	nonsense	probably null
R9368:Trim45	UTSW	3	100,832,319 (GRCm39)	missense	possibly damaging	0.51
R9634:Trim45	UTSW	3	100,839,306 (GRCm39)	missense	unknown
R9651:Trim45	UTSW	3	100,832,705 (GRCm39)	nonsense	probably null
X0066:Trim45	UTSW	3	100,839,083 (GRCm39)	intron	probably benign
Z1088:Trim45	UTSW	3	100,832,956 (GRCm39)	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- AATCCGGAGATCTGTGGATGG -3'
(R):5'- GAGCTTGTATCTGAGTCACCC -3'

Sequencing Primer
(F):5'- ATGGTTCCTCAGAGGCGTTCTC -3'
(R):5'- CCCACGGATGTCCACTACTGAG -3'

Posted On

2022-08-09