Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02172:Trim59'

282908

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trim59

Ensembl Gene

ENSMUSG00000034317

Gene Name

tripartite motif-containing 59

Synonyms

Mrf1, 2310035M22Rik, 2700022F13Rik, TSBF1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.047) question?

Stock #

IGL02172

Quality Score

Status

Chromosome

Chromosomal Location

69035288-69044755 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69037477 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 177 (I177L)

Ref Sequence

ENSEMBL: ENSMUSP00000120270 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042901] [ENSMUST00000107802] [ENSMUST00000107803] [ENSMUST00000136512] [ENSMUST00000148385]

Predicted Effect

probably benign
Transcript: ENSMUST00000042901

SMART Domains

Protein: ENSMUSP00000047872
Gene: ENSMUSG00000034349

Domain	Start	End	E-Value	Type
PDB:1W1W\|D	89	238	1e-17	PDB
Blast:AAA	104	238	3e-6	BLAST
low complexity region	408	427	N/A	INTRINSIC
low complexity region	447	460	N/A	INTRINSIC
low complexity region	473	482	N/A	INTRINSIC
low complexity region	545	567	N/A	INTRINSIC
SMC_hinge	611	726	1.12e-31	SMART
low complexity region	870	881	N/A	INTRINSIC
low complexity region	942	953	N/A	INTRINSIC
Blast:AAA	1102	1276	5e-26	BLAST
PDB:3KTA\|D	1125	1276	3e-30	PDB
SCOP:d1e69a_	1188	1263	3e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107802
AA Change: I177L

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

SMART Domains

Protein: ENSMUSP00000103432
Gene: ENSMUSG00000034317
AA Change: I177L

Domain	Start	End	E-Value	Type
RING	10	59	2.44e-8	SMART
Pfam:zf-B_box	92	134	5.9e-10	PFAM
transmembrane domain	329	348	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107803

SMART Domains

Protein: ENSMUSP00000103433
Gene: ENSMUSG00000034349

Domain	Start	End	E-Value	Type
Pfam:AAA_23	59	329	1.3e-12	PFAM
Pfam:AAA_21	81	199	5.2e-7	PFAM
coiled coil region	369	482	N/A	INTRINSIC
coiled coil region	511	563	N/A	INTRINSIC
SMC_hinge	586	701	8.6e-36	SMART
Pfam:SMC_N	738	1247	1.1e-35	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128118

Predicted Effect

probably benign
Transcript: ENSMUST00000136512
AA Change: I177L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000120270
Gene: ENSMUSG00000034317
AA Change: I177L

Domain	Start	End	E-Value	Type
RING	10	59	2.44e-8	SMART
Pfam:zf-B_box	92	134	8.4e-10	PFAM
transmembrane domain	329	348	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148385

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 37,004,873	V3236A	probably damaging	Het
Abca12	A	G	1: 71,302,658	V1048A	probably benign	Het
Adgre1	C	T	17: 57,478,879	T875I	probably damaging	Het
Arhgef26	T	C	3: 62,459,676	V810A	probably benign	Het
Atf1	T	A	15: 100,254,441	V105E	probably damaging	Het
Bbs9	C	T	9: 22,579,476	T300I	possibly damaging	Het
Brd7	G	T	8: 88,351,824	H226Q	probably benign	Het
Cadps	T	C	14: 12,705,681	K238R	probably damaging	Het
Chordc1	A	G	9: 18,302,092	T80A	possibly damaging	Het
Clca4a	A	T	3: 144,970,394	C126*	probably null	Het
Col24a1	A	T	3: 145,314,962	T365S	probably benign	Het
Crb1	C	T	1: 139,237,227	G1053D	probably damaging	Het
Creb3l4	A	T	3: 90,242,775	S20T	probably benign	Het
Cyp2c67	C	T	19: 39,649,002	C10Y	possibly damaging	Het
Dhdh	A	T	7: 45,475,617	C294S	probably damaging	Het
Fam135a	A	G	1: 24,024,780		probably null	Het
Fsd1	G	T	17: 55,990,244		probably benign	Het
Gatad2b	A	G	3: 90,355,671		probably benign	Het
Glb1l2	T	C	9: 26,769,086	D232G	probably damaging	Het
Gm10553	T	C	1: 85,100,294	L44P	probably damaging	Het
Hecw1	T	C	13: 14,264,149	Y883C	probably damaging	Het
Helq	A	G	5: 100,790,147	F478L	probably damaging	Het
Ift172	T	C	5: 31,281,337		probably benign	Het
Krtcap3	A	C	5: 31,252,053	T55P	probably damaging	Het
Megf6	A	G	4: 154,270,692	D1488G	probably damaging	Het
Mrpl1	T	C	5: 96,231,715	V203A	probably damaging	Het
Myh2	A	T	11: 67,189,052	D1084V	possibly damaging	Het
Necap2	T	A	4: 141,078,310		probably benign	Het
Nemp1	A	G	10: 127,692,999	S191G	probably benign	Het
Nrip1	T	C	16: 76,291,492	D1059G	probably damaging	Het
Ntrk3	A	T	7: 78,460,272		probably benign	Het
Olfr558	G	A	7: 102,709,844	R195H	probably benign	Het
Olfr583	A	G	7: 103,051,375	I26V	probably benign	Het
Prkdc	T	G	16: 15,809,759	V3427G	probably benign	Het
Ptprn2	A	T	12: 116,873,697		probably benign	Het
Ptprt	A	T	2: 161,555,502	L1095H	probably damaging	Het
Ren1	T	A	1: 133,359,033	L300Q	possibly damaging	Het
Rgl3	A	G	9: 21,976,838	I460T	probably damaging	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Runx1t1	A	C	4: 13,859,924	Q265P	probably benign	Het
Sh3d21	A	G	4: 126,152,360	S282P	probably benign	Het
Slc39a13	T	C	2: 91,063,160	E318G	possibly damaging	Het
Srd5a3	T	C	5: 76,147,709	I82T	probably benign	Het
Stard7	C	A	2: 127,290,872	T220N	probably damaging	Het
Tbx4	G	A	11: 85,914,563	G493R	possibly damaging	Het
Trerf1	A	T	17: 47,317,817		noncoding transcript	Het
Trpm7	T	C	2: 126,795,328	M1789V	possibly damaging	Het
Tsc22d1	T	C	14: 76,417,692	V455A	probably benign	Het
Vmn2r118	C	A	17: 55,624,598	M25I	probably benign	Het
Wdr38	A	T	2: 38,998,412	N7I	probably damaging	Het
Wdr90	G	A	17: 25,850,434	T1233I	probably benign	Het
Zcchc2	G	A	1: 106,000,934	D308N	probably benign	Het
Zfp57	G	T	17: 37,009,589	V112L	possibly damaging	Het
Zfp874b	A	T	13: 67,474,016	Y388N	probably damaging	Het

Other mutations in Trim59

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00766:Trim59	APN	3	69037379	missense	probably benign	0.00
IGL03051:Trim59	APN	3	69036873	missense	probably benign	0.00
R0865:Trim59	UTSW	3	69037608	missense	probably damaging	1.00
R1729:Trim59	UTSW	3	69036853	missense	probably benign	0.03
R1839:Trim59	UTSW	3	69037638	missense	probably damaging	1.00
R2212:Trim59	UTSW	3	69037543	missense	probably benign	0.31
R2311:Trim59	UTSW	3	69037829	nonsense	probably null
R3766:Trim59	UTSW	3	69036804	missense	probably benign
R4633:Trim59	UTSW	3	69037414	missense	probably benign	0.16
R4823:Trim59	UTSW	3	69037120	missense	probably benign	0.13
R5123:Trim59	UTSW	3	69037734	missense	probably benign	0.30

Posted On

2015-04-16