Mutagenetix > Incidental Mutation

Incidental Mutation 'R1813:Trim45'

202531

Institutional Source

Beutler Lab

Gene Symbol

Trim45

Ensembl Gene

ENSMUSG00000033233

Gene Name

tripartite motif-containing 45

Synonyms

4921530N01Rik

MMRRC Submission

039841-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1813 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100922202-100936920 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100922967 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 19 (N19S)

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: N19S

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

SMART Domains

Protein: ENSMUSP00000043389
Gene: ENSMUSG00000033233
AA Change: N19S

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: N19S

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

SMART Domains

Protein: ENSMUSP00000102593
Gene: ENSMUSG00000033233
AA Change: N19S

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: N19S

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000115669
Gene: ENSMUSG00000033233
AA Change: N19S

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

probably benign
Transcript: ENSMUST00000163914
AA Change: N19S

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000129861
Gene: ENSMUSG00000033233
AA Change: N19S

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.8%
20x: 90.3%

Validation Efficiency

96% (79/82)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,566,273	N595Y	probably benign	Het
Abca6	A	G	11: 110,233,845		probably benign	Het
Abo	C	A	2: 26,843,597	D199Y	probably damaging	Het
Acvr1c	A	C	2: 58,280,294	V277G	probably damaging	Het
Adam23	G	A	1: 63,545,572	A380T	probably benign	Het
Art2b	A	G	7: 101,580,029	V221A	probably benign	Het
Bcam	A	G	7: 19,766,715	S153P	probably damaging	Het
Brip1	T	C	11: 86,187,080	H174R	possibly damaging	Het
Ccdc186	T	C	19: 56,800,169	D536G	probably benign	Het
Cd109	A	G	9: 78,617,005	N67S	probably benign	Het
Cd8a	G	T	6: 71,373,963	M137I	possibly damaging	Het
Ces2g	T	C	8: 104,966,937	F417L	probably benign	Het
Clec2g	A	G	6: 128,948,697	N23S	unknown	Het
Cntnap2	T	C	6: 46,530,633	Y61C	probably damaging	Het
Cog3	T	A	14: 75,742,344	E182D	probably benign	Het
Dbpht2	A	G	12: 74,295,850		noncoding transcript	Het
Dock4	A	T	12: 40,636,228	N154I	probably damaging	Het
Dysf	T	G	6: 84,151,924	V1422G	possibly damaging	Het
E2f3	T	C	13: 29,920,176	D140G	probably damaging	Het
Epb41l2	T	A	10: 25,441,568		probably null	Het
Epha2	A	G	4: 141,308,546	K98E	possibly damaging	Het
Esyt1	T	C	10: 128,519,618	D444G	probably benign	Het
Fam163a	T	C	1: 156,080,041	T2A	probably damaging	Het
Foxp2	A	T	6: 15,379,768		probably benign	Het
Gcm2	T	C	13: 41,105,891	H34R	probably benign	Het
Gipr	A	G	7: 19,164,071	S79P	probably benign	Het
Gli3	T	C	13: 15,648,691	S333P	probably damaging	Het
Gm10717	T	G	9: 3,026,317	F205C	probably damaging	Het
Gm11639	A	G	11: 104,720,688	K452R	probably benign	Het
Gzmk	A	G	13: 113,172,893	S208P	probably damaging	Het
Htra2	G	T	6: 83,051,602	A318D	probably damaging	Het
Itpkc	T	C	7: 27,208,380	D633G	probably damaging	Het
Lama1	G	A	17: 67,791,223	R1805H	probably benign	Het
Lama4	T	A	10: 39,033,125		probably benign	Het
Lama4	T	C	10: 39,060,186	V619A	probably damaging	Het
Notch3	T	C	17: 32,143,428	T1408A	probably benign	Het
Nwd2	A	G	5: 63,805,410	D779G	probably benign	Het
Nxpe4	A	G	9: 48,393,378	Y255C	possibly damaging	Het
Obox6	A	T	7: 15,834,845	H35Q	possibly damaging	Het
Olfr324	A	G	11: 58,598,307	I304V	probably damaging	Het
Olfr890	T	A	9: 38,143,729	I198N	possibly damaging	Het
Pkig	T	A	2: 163,721,227	I26N	possibly damaging	Het
Plekhm2	C	T	4: 141,642,439	V82M	possibly damaging	Het
Plppr2	G	A	9: 21,947,924	A446T	probably damaging	Het
Psme4	T	A	11: 30,804,353	F203L	probably benign	Het
Sh3bp1	A	G	15: 78,903,680	K137E	probably damaging	Het
Shisa5	T	A	9: 109,056,040	I126N	probably damaging	Het
Slc11a1	T	C	1: 74,375,772	L21P	probably benign	Het
Slc35f1	C	T	10: 52,933,195	P93S	probably damaging	Het
Slc4a4	A	G	5: 89,046,308	T172A	probably damaging	Het
Slc9c1	A	T	16: 45,573,347	Y551F	probably benign	Het
Spata31	T	C	13: 64,921,798	S587P	probably benign	Het
Syna	C	A	5: 134,559,152	M314I	probably benign	Het
Taf5l	A	G	8: 124,003,413	L144P	probably damaging	Het
Tbccd1	T	C	16: 22,822,521	T369A	probably benign	Het
Tnfrsf11b	A	T	15: 54,256,097	C160*	probably null	Het
Uba2	A	G	7: 34,151,030	F364S	probably damaging	Het
Unc50	T	A	1: 37,437,242	L161Q	probably damaging	Het
Uso1	A	T	5: 92,201,133		probably null	Het
Usp25	A	G	16: 77,114,950	I956V	probably benign	Het
Utf1	C	A	7: 139,944,300	L143I	probably damaging	Het
Vmn1r158	C	T	7: 22,790,718	C22Y	probably damaging	Het
Vmn1r36	T	A	6: 66,716,772	M40L	probably benign	Het
Vmn2r43	A	G	7: 8,255,056	V386A	possibly damaging	Het
Vps9d1	C	A	8: 123,247,039	R335L	probably damaging	Het
Wasf1	T	A	10: 40,926,589	V80D	probably damaging	Het
Wdr72	G	A	9: 74,276,016	V1077I	possibly damaging	Het
Wnt8a	A	G	18: 34,542,369	M1V	probably null	Het
Zbtb26	A	G	2: 37,436,335	S230P	possibly damaging	Het
Zfp335	A	G	2: 164,892,605	V1247A	probably damaging	Het
Zfp429	T	C	13: 67,390,386	N313S	possibly damaging	Het
Zfp74	A	T	7: 29,935,144	C380S	probably damaging	Het
Zfyve21	G	A	12: 111,824,894	E134K	probably damaging	Het
Zmynd11	T	C	13: 9,689,580	T474A	possibly damaging	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
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
R4769:Trim45	UTSW	3	100931734	intron	probably benign
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'- GGTTGTCCTTTTACTTGGCAAC -3'
(R):5'- GCTGCAGGCTACATAACTCG -3'

Sequencing Primer
(F):5'- GTCCTCATGGTCAGTGTT -3'
(R):5'- TACATAACTCGGGGTCCTGGAATAC -3'

Posted On

2014-06-23