Mutagenetix > Incidental Mutation

Incidental Mutation 'R0116:Trim40'

20845

Institutional Source

Beutler Lab

Gene Symbol

Trim40

Ensembl Gene

ENSMUSG00000073399

Gene Name

tripartite motif-containing 40

Synonyms

LOC195359, LOC240093, LOC333872

MMRRC Submission

038402-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R0116 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

36881598-36890123 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 36883147 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000084400 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087158] [ENSMUST00000172711]

AlphaFold

Q3UWA4

Predicted Effect

probably null
Transcript: ENSMUST00000087158

SMART Domains

Protein: ENSMUSP00000084400
Gene: ENSMUSG00000073399

Domain	Start	End	E-Value	Type
RING	12	54	6e-8	SMART
Pfam:zf-B_box	65	105	1.1e-6	PFAM
coiled coil region	106	150	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172711

SMART Domains

Protein: ENSMUSP00000133581
Gene: ENSMUSG00000073399

Domain	Start	End	E-Value	Type
RING	12	54	6e-8	SMART
Pfam:zf-B_box	65	105	3.4e-7	PFAM
coiled coil region	106	150	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174107

Meta Mutation Damage Score

0.9488

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.2%

Validation Efficiency

94% (95/101)

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 (TRIM) protein family. The encoded protein may play a role as a negative regulator against inflammation and carcinogenesis in the gastrointestinal tract. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	A	T	9: 15,290,770	V152E	probably damaging	Het
Abca5	T	G	11: 110,276,505	E1495A	probably damaging	Het
Abcc12	G	A	8: 86,534,998	S668F	probably benign	Het
Adgrl4	A	T	3: 151,517,610	T608S	probably benign	Het
Angel2	G	A	1: 190,940,990	D255N	probably benign	Het
Apob	T	A	12: 7,989,113		probably benign	Het
Arfgef2	A	T	2: 166,873,683	R1349S	probably damaging	Het
Atp2b2	C	T	6: 113,793,695	V418I	probably damaging	Het
Birc6	C	A	17: 74,623,746		probably benign	Het
Capn13	T	A	17: 73,351,524	Y183F	probably damaging	Het
Cngb1	A	G	8: 95,260,638	S352P	probably damaging	Het
Col6a3	A	G	1: 90,813,551	S720P	probably damaging	Het
Cpa4	C	T	6: 30,579,658	R155W	probably damaging	Het
Dapk1	A	G	13: 60,761,100	I1176V	probably benign	Het
Dnah17	T	C	11: 118,058,306	E2959G	probably benign	Het
Dnah7b	T	A	1: 46,213,360	I1734N	possibly damaging	Het
Dnajb7	A	G	15: 81,407,354	Y261H	probably benign	Het
Dock2	T	C	11: 34,688,565		probably benign	Het
Dusp27	A	C	1: 166,099,701	S781A	probably benign	Het
Dyrk3	A	T	1: 131,129,839	V199E	probably damaging	Het
F2r	G	T	13: 95,604,486	C180*	probably null	Het
F5	A	G	1: 164,184,914	S466G	probably benign	Het
Fbn2	A	T	18: 58,102,373	C677*	probably null	Het
Fbxo41	A	G	6: 85,477,908	S673P	probably damaging	Het
Fhad1	G	T	4: 141,940,095	H639N	probably benign	Het
Fmnl3	G	C	15: 99,322,738		probably benign	Het
Foxa2	A	G	2: 148,043,561	S270P	probably damaging	Het
Fxyd7	C	T	7: 31,047,368		probably null	Het
Gm5225	A	G	17: 24,024,058	D67G	probably benign	Het
Grik3	G	A	4: 125,670,556	E444K	probably benign	Het
Gsdma2	A	G	11: 98,649,183	K44E	probably damaging	Het
Haus1	T	A	18: 77,762,070	K130*	probably null	Het
Heg1	A	G	16: 33,735,658		probably benign	Het
Hormad2	A	G	11: 4,412,206		probably benign	Het
Hsd17b3	G	A	13: 64,058,589	R300C	possibly damaging	Het
Irf5	T	C	6: 29,536,109	F374S	probably damaging	Het
Itch	A	G	2: 155,217,983		probably benign	Het
Jade2	A	T	11: 51,831,309	L139Q	probably damaging	Het
Kif5c	G	A	2: 49,752,239		probably benign	Het
Lama1	T	C	17: 67,776,923	Y1387H	probably benign	Het
Larp4b	A	G	13: 9,170,688	R658G	probably damaging	Het
Mcph1	C	T	8: 18,788,248	L729F	probably benign	Het
Me1	A	T	9: 86,654,667	N118K	probably benign	Het
Med13	A	G	11: 86,319,897	L473S	probably damaging	Het
Mgam	T	A	6: 40,658,987	Y359N	probably damaging	Het
Morc2b	A	G	17: 33,137,041	S586P	probably damaging	Het
Mthfr	A	G	4: 148,051,523	D310G	probably benign	Het
Mtmr7	A	T	8: 40,581,405		probably benign	Het
Mtus1	A	G	8: 40,998,477		probably benign	Het
Mus81	G	T	19: 5,486,524	A138D	probably damaging	Het
Myom2	A	T	8: 15,117,633	I1073F	probably damaging	Het
Nhsl1	A	T	10: 18,525,242	K739*	probably null	Het
Nlrp4d	T	A	7: 10,374,891	K762N	probably benign	Het
Nrap	T	C	19: 56,355,546	Y724C	probably damaging	Het
Ogn	A	T	13: 49,621,038	Y219F	possibly damaging	Het
Olfr805	T	A	10: 129,722,977	D189V	probably damaging	Het
Olfr923	T	C	9: 38,828,564	L291P	probably damaging	Het
Olfr948	A	T	9: 39,318,864	I250N	probably damaging	Het
Padi2	T	C	4: 140,926,239	V180A	probably benign	Het
Papss2	C	T	19: 32,638,368	R167*	probably null	Het
Pcbp2	T	C	15: 102,474,235		probably benign	Het
Per1	T	A	11: 69,101,880		probably benign	Het
Pik3ca	T	C	3: 32,459,945	I860T	probably damaging	Het
Pkdrej	G	A	15: 85,817,545	Q1397*	probably null	Het
Plce1	T	C	19: 38,721,821	V1133A	probably benign	Het
Pnmal1	T	G	7: 16,960,700	V160G	probably damaging	Het
Prss12	T	C	3: 123,482,774	C351R	probably damaging	Het
Qprt	A	T	7: 127,109,097	L54Q	probably damaging	Het
Raf1	C	T	6: 115,626,383	S165N	probably damaging	Het
Rere	A	G	4: 150,616,976	N1271S	probably benign	Het
Rnasel	T	A	1: 153,754,512	L258H	probably damaging	Het
Ryr2	T	C	13: 11,709,921	D2502G	probably damaging	Het
Ryr3	G	A	2: 112,803,165	S2081L	probably damaging	Het
Sc5d	G	T	9: 42,259,859	Y11*	probably null	Het
Slc25a29	A	C	12: 108,827,091	L187R	possibly damaging	Het
Slc2a7	G	A	4: 150,168,264	V454M	probably benign	Het
Slco1b2	A	T	6: 141,669,388	T340S	probably benign	Het
Smarcc1	A	G	9: 110,147,104	N153S	possibly damaging	Het
Snx1	C	A	9: 66,088,539	E516*	probably null	Het
Sptlc2	T	C	12: 87,356,680	D115G	probably benign	Het
Stard9	A	G	2: 120,634,255	N67S	probably damaging	Het
Swap70	G	A	7: 110,273,282	R368H	probably benign	Het
Tcaf3	T	C	6: 42,591,350	K691E	probably benign	Het
Tmco4	T	C	4: 139,053,920	F465S	probably damaging	Het
Tmem245	A	G	4: 56,926,213	S290P	probably benign	Het
Top2a	T	C	11: 99,003,590	T972A	probably benign	Het
Tpr	T	A	1: 150,410,147	S527R	probably damaging	Het
Traf2	T	C	2: 25,519,609	D443G	probably damaging	Het
Trim42	A	T	9: 97,363,403	I448N	possibly damaging	Het
Ttll9	G	A	2: 152,983,134	V78M	probably damaging	Het
Vav1	C	T	17: 57,296,039	L88F	probably damaging	Het
Vps13b	A	G	15: 35,423,155	D207G	probably damaging	Het
Wdsub1	A	G	2: 59,876,665		probably null	Het
Zfp799	A	G	17: 32,821,035	W85R	possibly damaging	Het
Zfp839	A	T	12: 110,858,769		probably benign	Het

Other mutations in Trim40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Trim40	APN	17	36882397	makesense	probably null
IGL01085:Trim40	APN	17	36883241	missense	probably benign	0.01
IGL02071:Trim40	APN	17	36889178	missense	probably benign
IGL02343:Trim40	APN	17	36889138	missense	probably benign	0.03
R1853:Trim40	UTSW	17	36889078	missense	probably damaging	1.00
R2216:Trim40	UTSW	17	36888983	missense	probably benign	0.10
R4649:Trim40	UTSW	17	36882639	splice site	probably null
R4903:Trim40	UTSW	17	36883225	missense	possibly damaging	0.95
R5384:Trim40	UTSW	17	36888865	missense	probably damaging	0.99
R5680:Trim40	UTSW	17	36888982	missense	probably damaging	0.99
R5969:Trim40	UTSW	17	36882427	missense	probably benign
R6830:Trim40	UTSW	17	36888850	missense	possibly damaging	0.89
R7008:Trim40	UTSW	17	36883976	missense	probably damaging	1.00
R7112:Trim40	UTSW	17	36882642	missense	probably null	1.00
R7283:Trim40	UTSW	17	36882662	missense	probably benign	0.05
R8288:Trim40	UTSW	17	36883318	missense	probably benign	0.01
R9742:Trim40	UTSW	17	36889010	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- TCGAACACTCACTCGTGTGCTC -3'
(R):5'- CCACTGTGGCAGGACTCCAATATC -3'

Sequencing Primer
(F):5'- ctcatgtacacacacacacacc -3'
(R):5'- CCAGGAGAGAGCCCTCTATTATTG -3'

Posted On

2013-04-11