Mutagenetix > Incidental Mutation

Incidental Mutation 'R0865:Trim59'

82284

Institutional Source

Beutler Lab

Gene Symbol

Trim59

Ensembl Gene

ENSMUSG00000034317

Gene Name

tripartite motif-containing 59

Synonyms

Mrf1, TSBF1, 2310035M22Rik, 2700022F13Rik

MMRRC Submission

039039-MU

Accession Numbers

Essential gene?

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

Stock #

R0865 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68942625-68952075 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68944941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 133 (D133G)

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 damaging
Transcript: ENSMUST00000107802
AA Change: D133G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103432
Gene: ENSMUSG00000034317
AA Change: D133G

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 damaging
Transcript: ENSMUST00000136512
AA Change: D133G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120270
Gene: ENSMUSG00000034317
AA Change: D133G

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

Meta Mutation Damage Score

0.4154

Coding Region Coverage

1x: 99.6%
3x: 99.0%
10x: 97.5%
20x: 95.2%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck5	A	G	15: 76,479,843 (GRCm39)	E581G	probably damaging	Het
Adcy5	A	G	16: 35,094,841 (GRCm39)	N666S	probably damaging	Het
Apcs	T	C	1: 172,721,782 (GRCm39)	D188G	probably benign	Het
Arih2	A	G	9: 108,526,499 (GRCm39)		probably benign	Het
AU040320	A	G	4: 126,742,677 (GRCm39)	K981E	possibly damaging	Het
Brwd1	A	T	16: 95,869,784 (GRCm39)	I81K	probably damaging	Het
Cacng8	T	A	7: 3,460,625 (GRCm39)	I136N	possibly damaging	Het
Cdh22	A	T	2: 165,022,976 (GRCm39)	W32R	probably damaging	Het
Cel	A	G	2: 28,450,627 (GRCm39)	S133P	probably damaging	Het
Clasp2	A	G	9: 113,740,568 (GRCm39)	T495A	possibly damaging	Het
Clock	A	T	5: 76,414,271 (GRCm39)		probably benign	Het
Cox6a2	A	G	7: 127,804,995 (GRCm39)		probably benign	Het
Cyp2b19	C	A	7: 26,461,654 (GRCm39)		probably benign	Het
Dnah11	G	A	12: 118,154,579 (GRCm39)	Q234*	probably null	Het
Gga3	A	T	11: 115,483,285 (GRCm39)	N91K	probably damaging	Het
Idh1	T	C	1: 65,200,315 (GRCm39)	T350A	probably benign	Het
Ints11	A	G	4: 155,971,564 (GRCm39)		probably null	Het
Itgb1	A	G	8: 129,436,732 (GRCm39)		probably null	Het
Kank4	A	T	4: 98,662,900 (GRCm39)		probably benign	Het
Kansl1	A	T	11: 104,315,194 (GRCm39)	D281E	probably benign	Het
Kmt2a	T	C	9: 44,730,067 (GRCm39)		probably benign	Het
Kpna4	T	C	3: 69,008,750 (GRCm39)	E145G	probably damaging	Het
Lacc1	A	G	14: 77,271,584 (GRCm39)	I201T	possibly damaging	Het
Larp7	T	C	3: 127,337,884 (GRCm39)	K392E	probably damaging	Het
Lbh	T	A	17: 73,228,224 (GRCm39)	M23K	probably benign	Het
Myo15a	A	T	11: 60,382,514 (GRCm39)	E361V	probably damaging	Het
Ncor2	A	G	5: 125,116,046 (GRCm39)	S470P	probably benign	Het
Ngef	T	A	1: 87,412,323 (GRCm39)	M449L	probably benign	Het
Odad1	A	G	7: 45,591,512 (GRCm39)	T259A	probably benign	Het
Or2w3	T	C	11: 58,556,478 (GRCm39)	I31T	possibly damaging	Het
Or7e178	T	A	9: 20,226,045 (GRCm39)	Y57F	probably damaging	Het
Peak1	A	T	9: 56,165,116 (GRCm39)	D937E	probably benign	Het
Pnpla7	A	G	2: 24,872,135 (GRCm39)	K72E	probably benign	Het
Ptprn	T	G	1: 75,224,782 (GRCm39)		probably null	Het
Scgn	C	T	13: 24,146,102 (GRCm39)		probably null	Het
Sdk2	T	C	11: 113,741,748 (GRCm39)	I824V	probably benign	Het
Slc38a3	A	G	9: 107,532,847 (GRCm39)	S326P	probably damaging	Het
Spen	A	G	4: 141,199,181 (GRCm39)	S3126P	probably benign	Het
Tbcd	T	C	11: 121,493,815 (GRCm39)	C902R	possibly damaging	Het
Tmem63b	T	C	17: 45,972,445 (GRCm39)	I721V	probably benign	Het
Trim30c	A	G	7: 104,039,658 (GRCm39)	S46P	probably damaging	Het
Trpm7	A	T	2: 126,641,159 (GRCm39)		probably null	Het
Ttll10	A	G	4: 156,128,135 (GRCm39)	L391P	probably damaging	Het
Ttn	T	C	2: 76,623,585 (GRCm39)	T15331A	possibly damaging	Het
Vmn1r237	C	T	17: 21,534,976 (GRCm39)	T233I	probably damaging	Het
Vmn2r115	A	T	17: 23,565,382 (GRCm39)	D423V	possibly damaging	Het
Vmn2r25	T	A	6: 123,829,976 (GRCm39)	R58S	probably benign	Het
Vmn2r71	A	T	7: 85,268,516 (GRCm39)	I240F	probably benign	Het
Wdr3	A	G	3: 100,060,112 (GRCm39)		probably benign	Het
Zc3h14	T	C	12: 98,745,528 (GRCm39)		probably null	Het
Zc3hav1	C	T	6: 38,330,837 (GRCm39)		probably benign	Het
Zfp335	A	T	2: 164,741,415 (GRCm39)		probably null	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
IGL03051:Trim59	APN	3	68,944,206 (GRCm39)	missense	probably benign	0.00
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

Predicted Primers

PCR Primer
(F):5'- TTTGCCAACATCACAAAGAGCTGC -3'
(R):5'- AGGAGGAGTTAACGTGTCCCATCTG -3'

Sequencing Primer
(F):5'- GCTGCCAAAAAATACTTTTTTTTCTG -3'
(R):5'- ACTGGCATAGAATCCTTACCTG -3'

Posted On

2013-11-08