Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03051:Trim59'

409067

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trim59

Ensembl Gene

ENSMUSG00000034317

Gene Name

tripartite motif-containing 59

Synonyms

Mrf1, TSBF1, 2310035M22Rik, 2700022F13Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

IGL03051

Quality Score

Status

Chromosome

Chromosomal Location

68942625-68952075 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68944206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 378 (N378S)

Ref Sequence

ENSEMBL: ENSMUSP00000120270 (fasta)

Gene Model

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

AlphaFold

Q922Y2

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: N378S

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

SMART Domains

Protein: ENSMUSP00000103432
Gene: ENSMUSG00000034317
AA Change: N378S

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: N378S

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

SMART Domains

Protein: ENSMUSP00000120270
Gene: ENSMUSG00000034317
AA Change: N378S

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	G	T	6: 86,964,283 (GRCm39)		probably benign	Het
Abhd14a	A	T	9: 106,321,128 (GRCm39)	F76I	possibly damaging	Het
Acvr1b	A	G	15: 101,100,959 (GRCm39)	R374G	probably damaging	Het
Akap13	T	A	7: 75,260,233 (GRCm39)	C149*	probably null	Het
Appbp2	A	T	11: 85,082,565 (GRCm39)	D555E	possibly damaging	Het
Arhgap25	T	C	6: 87,472,896 (GRCm39)	Q87R	probably null	Het
Baz1b	T	A	5: 135,246,079 (GRCm39)	N509K	probably benign	Het
Ccn4	T	A	15: 66,778,399 (GRCm39)	C73*	probably null	Het
Ces5a	C	A	8: 94,255,226 (GRCm39)	G156C	probably damaging	Het
Chtf18	G	A	17: 25,939,938 (GRCm39)	R723W	probably damaging	Het
Clec4e	A	G	6: 123,266,692 (GRCm39)	S6P	probably benign	Het
Dennd4a	A	G	9: 64,769,696 (GRCm39)	I468V	probably damaging	Het
Epb41l4a	A	T	18: 34,007,825 (GRCm39)	Y233N	probably damaging	Het
Fam210b	C	T	2: 172,194,612 (GRCm39)	H155Y	probably benign	Het
Frmd4b	A	T	6: 97,272,943 (GRCm39)	C770*	probably null	Het
Gpa33	A	G	1: 165,992,790 (GRCm39)	H301R	probably benign	Het
Gpr39	T	A	1: 125,605,485 (GRCm39)	C138S	probably damaging	Het
Gtf2i	T	A	5: 134,271,768 (GRCm39)	K858*	probably null	Het
Ighv7-1	A	T	12: 113,860,576 (GRCm39)		probably benign	Het
Iglv1	T	C	16: 18,903,973 (GRCm39)	T49A	possibly damaging	Het
Kif17	A	C	4: 138,016,565 (GRCm39)	D416A	probably damaging	Het
Mib2	T	C	4: 155,741,747 (GRCm39)	T431A	probably damaging	Het
Mpz	G	A	1: 170,986,380 (GRCm39)	R98H	probably damaging	Het
Naa16	T	C	14: 79,606,522 (GRCm39)	E337G	probably benign	Het
Odam	G	A	5: 88,040,335 (GRCm39)		probably benign	Het
Or1e1f	T	A	11: 73,855,860 (GRCm39)	L142H	probably benign	Het
Parp2	T	C	14: 51,056,805 (GRCm39)		probably benign	Het
Pcdh7	T	G	5: 58,286,415 (GRCm39)	S1164A	probably damaging	Het
Pkp4	G	T	2: 59,142,106 (GRCm39)	A470S	probably benign	Het
Plin4	A	T	17: 56,412,417 (GRCm39)	M538K	possibly damaging	Het
Prex2	T	C	1: 11,212,889 (GRCm39)	V624A	probably damaging	Het
Rps6ka5	A	C	12: 100,582,250 (GRCm39)		probably null	Het
Simc1	T	C	13: 54,674,036 (GRCm39)	S795P	probably benign	Het
Slc35b4	A	T	6: 34,137,406 (GRCm39)		probably null	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Syt14	T	C	1: 192,615,528 (GRCm39)	N486S	probably benign	Het
Wdr17	T	A	8: 55,104,349 (GRCm39)	D908V	probably damaging	Het
Wdr74	A	G	19: 8,716,875 (GRCm39)		probably benign	Het

Other mutations in Trim59

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00766:Trim59	APN	3	68,944,712 (GRCm39)	missense	probably benign	0.00
IGL02172:Trim59	APN	3	68,944,810 (GRCm39)	missense	probably benign	0.00
R0865:Trim59	UTSW	3	68,944,941 (GRCm39)	missense	probably damaging	1.00
R1729:Trim59	UTSW	3	68,944,186 (GRCm39)	missense	probably benign	0.03
R1839:Trim59	UTSW	3	68,944,971 (GRCm39)	missense	probably damaging	1.00
R2212:Trim59	UTSW	3	68,944,876 (GRCm39)	missense	probably benign	0.31
R2311:Trim59	UTSW	3	68,945,162 (GRCm39)	nonsense	probably null
R3766:Trim59	UTSW	3	68,944,137 (GRCm39)	missense	probably benign
R4633:Trim59	UTSW	3	68,944,747 (GRCm39)	missense	probably benign	0.16
R4823:Trim59	UTSW	3	68,944,453 (GRCm39)	missense	probably benign	0.13
R5123:Trim59	UTSW	3	68,945,067 (GRCm39)	missense	probably benign	0.30
R7125:Trim59	UTSW	3	68,944,197 (GRCm39)	missense	probably benign	0.04
R7633:Trim59	UTSW	3	68,945,259 (GRCm39)	missense	probably damaging	1.00
R7892:Trim59	UTSW	3	68,945,140 (GRCm39)	missense	probably benign
R9493:Trim59	UTSW	3	68,945,134 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02