Mutagenetix > Incidental Mutation

Incidental Mutation 'R7633:Trim59'

589746

Institutional Source

Beutler Lab

Gene Symbol

Trim59

Ensembl Gene

ENSMUSG00000034317

Gene Name

tripartite motif-containing 59

Synonyms

Mrf1, TSBF1, 2310035M22Rik, 2700022F13Rik

MMRRC Submission

045721-MU

Accession Numbers

Essential gene?

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

Stock #

R7633 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68942625-68952075 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 68945259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 27 (H27L)

Ref Sequence

ENSEMBL: ENSMUSP00000103432 (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: H27L

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

SMART Domains

Protein: ENSMUSP00000103432
Gene: ENSMUSG00000034317
AA Change: H27L

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

probably damaging
Transcript: ENSMUST00000136512
AA Change: H27L

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

SMART Domains

Protein: ENSMUSP00000120270
Gene: ENSMUSG00000034317
AA Change: H27L

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530084C06Rik	G	T	13: 31,742,978 (GRCm39)	R92S	unknown	Het
Acaca	A	G	11: 84,263,465 (GRCm39)	I2029V	probably benign	Het
Anks1b	A	C	10: 90,784,446 (GRCm39)	D1138A	probably damaging	Het
Atr	T	A	9: 95,829,171 (GRCm39)	V2508E	probably damaging	Het
C4b	C	T	17: 34,948,373 (GRCm39)		probably null	Het
Calhm4	G	A	10: 33,919,904 (GRCm39)	T121M	possibly damaging	Het
Cd46	A	T	1: 194,765,927 (GRCm39)	M146K	probably null	Het
Chp1	A	G	2: 119,391,226 (GRCm39)	I28V	probably benign	Het
Chrnb1	T	A	11: 69,683,699 (GRCm39)	R216W	probably damaging	Het
Clmn	G	A	12: 104,748,371 (GRCm39)	T392M	probably benign	Het
Cracd	A	G	5: 77,005,367 (GRCm39)	E576G	unknown	Het
Dcxr	A	C	11: 120,617,279 (GRCm39)	L88R	probably benign	Het
Dedd	C	T	1: 171,166,478 (GRCm39)	P138L	probably benign	Het
Degs1	A	G	1: 182,107,263 (GRCm39)	S35P	probably damaging	Het
Ehmt1	T	C	2: 24,705,792 (GRCm39)	D851G	possibly damaging	Het
Fam117b	A	G	1: 60,020,693 (GRCm39)	D521G	probably damaging	Het
Gm6882	A	G	7: 21,161,577 (GRCm39)	V97A	probably damaging	Het
Hgs	A	T	11: 120,365,128 (GRCm39)	Q172L	probably damaging	Het
Hormad2	T	C	11: 4,296,662 (GRCm39)	Q274R	probably benign	Het
Igkv8-19	C	T	6: 70,318,383 (GRCm39)		probably benign	Het
Ikbkb	T	C	8: 23,161,757 (GRCm39)	N377S	probably benign	Het
Intu	G	A	3: 40,608,683 (GRCm39)	G232S	probably damaging	Het
Lypd9	C	A	11: 58,338,304 (GRCm39)	M29I	probably benign	Het
Mov10	A	G	3: 104,704,381 (GRCm39)	S806P	possibly damaging	Het
Mrgprb1	A	G	7: 48,097,331 (GRCm39)	F194L	probably benign	Het
Notch3	A	T	17: 32,377,596 (GRCm39)	I160K	probably benign	Het
Nup155	C	G	15: 8,138,937 (GRCm39)	S3W	probably damaging	Het
Or4k41	A	G	2: 111,279,967 (GRCm39)	I161V	probably benign	Het
Or8s5	A	G	15: 98,237,967 (GRCm39)	I301T	probably damaging	Het
Plxdc1	A	T	11: 97,846,977 (GRCm39)	F147L	possibly damaging	Het
Ppfia1	T	C	7: 144,106,173 (GRCm39)	D33G	possibly damaging	Het
Prdm11	G	A	2: 92,810,999 (GRCm39)	A200V	probably damaging	Het
Qrich2	A	T	11: 116,347,455 (GRCm39)	I1123K	unknown	Het
Rgs1	A	G	1: 144,124,215 (GRCm39)		probably null	Het
Skint7	T	A	4: 111,841,337 (GRCm39)	V259E	probably benign	Het
Slc25a3	A	T	10: 90,953,904 (GRCm39)		probably null	Het
Slc28a2b	A	T	2: 122,317,161 (GRCm39)	R7S	probably null	Het
Slco1a6	A	T	6: 142,091,481 (GRCm39)	I73N	probably damaging	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Smc4	CTA	CTATA	3: 68,925,400 (GRCm39)		probably benign	Het
Spock2	G	A	10: 59,962,002 (GRCm39)	D206N	probably damaging	Het
Stard3nl	T	G	13: 19,552,008 (GRCm39)	R185S	probably damaging	Het
Supt16	A	G	14: 52,434,556 (GRCm39)	Y18H	probably benign	Het
Synpo	G	A	18: 60,736,500 (GRCm39)	T482I	probably damaging	Het
Tcstv7b	G	A	13: 120,702,376 (GRCm39)	W57*	probably null	Het
Tmc6	G	T	11: 117,660,046 (GRCm39)	T694K	probably benign	Het
Trpv2	G	A	11: 62,481,832 (GRCm39)		probably null	Het
Tyw5	A	T	1: 57,432,644 (GRCm39)	D117E	probably benign	Het
Usp17la	T	C	7: 104,510,354 (GRCm39)	Y320H	probably damaging	Het
Usp31	T	C	7: 121,258,185 (GRCm39)	D694G	probably damaging	Het
Vmn1r159	T	A	7: 22,542,448 (GRCm39)	T195S	probably damaging	Het
Vmn2r57	C	T	7: 41,074,513 (GRCm39)	V517M	possibly damaging	Het
Yipf1	A	G	4: 107,176,193 (GRCm39)	N29S	probably benign	Het
Zfp954	A	T	7: 7,118,823 (GRCm39)	F240L	possibly damaging	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
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
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'- CAACATCTGGGTGGTCTTCTTGC -3'
(R):5'- GAAACCAGTTTGACTAATTTGGAGC -3'

Sequencing Primer
(F):5'- GCTGGTACTTTTCAATAATTGCTCG -3'
(R):5'- GTTAACGTGTCCCATCTG -3'

Posted On

2019-10-24