Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00952:Trim40'

29305

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trim40

Ensembl Gene

ENSMUSG00000073399

Gene Name

tripartite motif-containing 40

Synonyms

LOC195359, LOC240093, LOC333872

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

IGL00952

Quality Score

Status

Chromosome

Chromosomal Location

36881598-36890123 bp(-) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 36882397 bp

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 213 (*213W)

Ref Sequence

ENSEMBL: ENSMUSP00000133581 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060524] [ENSMUST00000087158] [ENSMUST00000172711]

Predicted Effect

probably benign
Transcript: ENSMUST00000060524

SMART Domains

Protein: ENSMUSP00000057928
Gene: ENSMUSG00000073400

Domain	Start	End	E-Value	Type
RING	16	60	1.2e-7	SMART
BBOX	94	135	5.38e-10	SMART
coiled coil region	152	175	N/A	INTRINSIC
low complexity region	187	207	N/A	INTRINSIC
PRY	309	361	1.04e-25	SMART
SPRY	362	485	1.51e-23	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000087158
AA Change: *247W

SMART Domains

Protein: ENSMUSP00000084400
Gene: ENSMUSG00000073399
AA Change: *247W

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 null
Transcript: ENSMUST00000172711
AA Change: *213W

SMART Domains

Protein: ENSMUSP00000133581
Gene: ENSMUSG00000073399
AA Change: *213W

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

Coding Region Coverage

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 (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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	T	G	6: 40,964,799	I4S	probably benign	Het
Abca8b	A	G	11: 109,969,060		probably null	Het
Aftph	A	T	11: 20,727,483	V42E	probably damaging	Het
AI467606	A	G	7: 127,092,702	S150G	probably damaging	Het
Art4	T	C	6: 136,854,820	N108D	possibly damaging	Het
B9d1	G	A	11: 61,512,678	V167I	possibly damaging	Het
Ccdc47	A	T	11: 106,203,532		probably null	Het
Ccdc96	T	A	5: 36,485,080		probably benign	Het
Cfap44	A	G	16: 44,421,275	I670V	probably benign	Het
Col18a1	T	G	10: 77,069,979	K909Q	possibly damaging	Het
Col8a2	A	G	4: 126,309,791	Y59C	probably damaging	Het
Coro6	A	T	11: 77,468,465	D288V	probably damaging	Het
Cul4a	C	T	8: 13,146,562	L739F	probably damaging	Het
Dmxl2	C	T	9: 54,416,882	V1073I	probably damaging	Het
Dnah11	T	C	12: 118,196,651	T115A	possibly damaging	Het
Fdx1l	A	G	9: 21,073,262		probably null	Het
Flnc	C	T	6: 29,459,547	Q2549*	probably null	Het
Foxn2	T	C	17: 88,475,880	C188R	probably benign	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Ilf3	T	C	9: 21,396,051	L343P	probably damaging	Het
Itgb2l	C	T	16: 96,426,750	G518S	probably damaging	Het
Itpr2	T	A	6: 146,158,961	I2486F	probably damaging	Het
Kat2a	A	G	11: 100,706,151	V681A	probably damaging	Het
Kif17	A	G	4: 138,262,708	N69S	possibly damaging	Het
Kif26b	G	A	1: 178,932,205	D2106N	probably damaging	Het
Klf6	A	G	13: 5,861,681	T15A	probably benign	Het
Lyst	A	G	13: 13,678,107	T2231A	probably benign	Het
Mark4	T	C	7: 19,431,824	T515A	possibly damaging	Het
Mast3	A	T	8: 70,780,683		probably benign	Het
Nalcn	T	C	14: 123,348,789	K722R	probably benign	Het
Ncf2	G	A	1: 152,836,106	E524K	probably benign	Het
Olfr1135	A	T	2: 87,671,815	I184N	probably damaging	Het
Olfr510	A	G	7: 108,668,238	N274S	possibly damaging	Het
Olfr681	A	G	7: 105,122,407		probably null	Het
Olfr895	A	T	9: 38,268,505		probably benign	Het
Plcg2	A	T	8: 117,607,217	M910L	probably benign	Het
Pramef17	T	C	4: 143,993,324	H157R	probably benign	Het
Rai1	A	T	11: 60,187,992	K961*	probably null	Het
Rsph14	T	C	10: 75,029,769	D112G	probably benign	Het
Sgo1	T	A	17: 53,687,247	D59V	probably damaging	Het
Slc22a29	A	T	19: 8,217,857	V138E	probably damaging	Het
Slc9a1	T	A	4: 133,416,382	V393D	probably damaging	Het
Smg6	A	G	11: 74,929,148	R82G	probably benign	Het
Sppl3	T	C	5: 115,074,876	S55P	probably benign	Het
Srsf12	A	C	4: 33,226,103	Q122P	possibly damaging	Het
Tas1r2	T	C	4: 139,655,252	M67T	probably benign	Het
Thnsl1	G	A	2: 21,211,956	V174I	possibly damaging	Het
Thumpd1	A	G	7: 119,717,009	V239A	possibly damaging	Het
Tnxb	T	G	17: 34,713,128	Y2212D	probably damaging	Het
Ttc16	T	C	2: 32,770,247	D183G	probably damaging	Het

Other mutations in Trim40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R0116:Trim40	UTSW	17	36883147	critical splice donor site	probably null
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

Posted On

2013-04-17