Mutagenetix > Incidental Mutation

Incidental Mutation 'R4088:Trim65'

317479

Institutional Source

Beutler Lab

Gene Symbol

Trim65

Ensembl Gene

ENSMUSG00000054517

Gene Name

tripartite motif-containing 65

Synonyms

4732463G12Rik

MMRRC Submission

040981-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4088 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116012672-116021954 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 116017305 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 386 (Q386*)

Ref Sequence

ENSEMBL: ENSMUSP00000102048 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067632] [ENSMUST00000106440]

AlphaFold

Q8BFW4

Predicted Effect

probably null
Transcript: ENSMUST00000067632
AA Change: Q386*

SMART Domains

Protein: ENSMUSP00000063410
Gene: ENSMUSG00000054517
AA Change: Q386*

Domain	Start	End	E-Value	Type
RING	13	51	2.47e-9	SMART
low complexity region	69	85	N/A	INTRINSIC
Blast:BBOX	94	132	3e-10	BLAST
coiled coil region	140	175	N/A	INTRINSIC
low complexity region	282	298	N/A	INTRINSIC
PRY	333	383	3.67e-3	SMART
Pfam:SPRY	386	505	1.5e-10	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000106440
AA Change: Q386*

SMART Domains

Protein: ENSMUSP00000102048
Gene: ENSMUSG00000054517
AA Change: Q386*

Domain	Start	End	E-Value	Type
RING	13	51	2.47e-9	SMART
low complexity region	69	85	N/A	INTRINSIC
Blast:BBOX	94	132	2e-10	BLAST
coiled coil region	140	175	N/A	INTRINSIC
low complexity region	282	298	N/A	INTRINSIC
PRY	333	383	3.67e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154061

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

96% (55/57)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430110L20Rik	T	C	1: 181,055,274 (GRCm39)		noncoding transcript	Het
Alox12b	G	T	11: 69,049,211 (GRCm39)	V87L	probably benign	Het
Arsk	T	G	13: 76,246,533 (GRCm39)	N32T	probably benign	Het
Baz1b	T	A	5: 135,245,794 (GRCm39)	N414K	probably damaging	Het
Cacna1e	A	T	1: 154,287,929 (GRCm39)		probably null	Het
Cdc73	A	G	1: 143,484,252 (GRCm39)		probably benign	Het
Cdhr2	A	G	13: 54,865,701 (GRCm39)	D233G	probably null	Het
Cep250	G	A	2: 155,834,552 (GRCm39)	R2159K	probably damaging	Het
Col4a4	T	A	1: 82,501,643 (GRCm39)	Y370F	unknown	Het
Cyp2b9	T	C	7: 25,872,881 (GRCm39)	L8P	probably damaging	Het
Ddx4	A	G	13: 112,750,295 (GRCm39)	V386A	probably benign	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Dnajc6	T	A	4: 101,496,593 (GRCm39)	V920E	probably damaging	Het
Eef2kmt	A	T	16: 5,070,899 (GRCm39)	I50N	probably damaging	Het
Esyt3	T	C	9: 99,206,290 (GRCm39)	M40V	probably benign	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gpr26	G	T	7: 131,568,805 (GRCm39)	C50F	probably benign	Het
Hmcn1	A	G	1: 150,578,967 (GRCm39)	I1993T	possibly damaging	Het
Hsdl2	T	A	4: 59,610,636 (GRCm39)	L211Q	unknown	Het
Khdrbs2	A	G	1: 32,372,605 (GRCm39)	E93G	probably damaging	Het
Kif13b	T	C	14: 65,004,904 (GRCm39)		probably null	Het
Kif15	T	A	9: 122,815,254 (GRCm39)	L423I	probably benign	Het
Kmt2c	A	G	5: 25,492,711 (GRCm39)	V834A	probably benign	Het
Lama3	T	A	18: 12,637,365 (GRCm39)	Y28*	probably null	Het
Map4k2	A	T	19: 6,403,186 (GRCm39)	H763L	probably damaging	Het
Mrtfb	T	C	16: 13,202,064 (GRCm39)	F120S	probably damaging	Het
Ndufs3	C	T	2: 90,728,689 (GRCm39)		probably benign	Het
Nfasc	A	T	1: 132,523,329 (GRCm39)	V887E	probably damaging	Het
Npsr1	G	A	9: 24,225,065 (GRCm39)	E358K	possibly damaging	Het
Nrcam	T	C	12: 44,618,985 (GRCm39)	L828P	possibly damaging	Het
Oprm1	T	C	10: 6,780,234 (GRCm39)	Y299H	probably damaging	Het
Or1j15	T	A	2: 36,459,030 (GRCm39)	L140H	probably damaging	Het
Osbpl8	T	C	10: 111,125,651 (GRCm39)	V777A	possibly damaging	Het
Pcnt	T	C	10: 76,263,848 (GRCm39)	E372G	probably damaging	Het
Plekhh2	T	C	17: 84,925,427 (GRCm39)	V1408A	probably benign	Het
Sbk2	T	C	7: 4,960,627 (GRCm39)	Y181C	probably damaging	Het
Sf1	G	A	19: 6,418,470 (GRCm39)		probably null	Het
Slc26a9	A	G	1: 131,695,587 (GRCm39)	E765G	possibly damaging	Het
Stab2	A	G	10: 86,758,049 (GRCm39)	L1073P	probably damaging	Het
Sypl2	A	G	3: 108,124,992 (GRCm39)	I123T	possibly damaging	Het
Taar3	A	G	10: 23,825,757 (GRCm39)	D101G	possibly damaging	Het
Thsd4	T	C	9: 59,904,505 (GRCm39)	R204G	probably benign	Het
Traf3ip3	A	G	1: 192,863,628 (GRCm39)	V414A	probably damaging	Het
Trim14	T	A	4: 46,523,709 (GRCm39)	T110S	probably benign	Het
Ttn	G	A	2: 76,748,114 (GRCm39)	Q4312*	probably null	Het
Ubtfl1	T	C	9: 18,321,264 (GRCm39)	V264A	probably damaging	Het
Vmn1r58	C	A	7: 5,413,654 (GRCm39)	W192L	probably damaging	Het
Washc5	C	A	15: 59,211,711 (GRCm39)	C969F	probably damaging	Het
Zdhhc14	A	G	17: 5,777,131 (GRCm39)	K296R	probably benign	Het
Zfp281	T	A	1: 136,553,859 (GRCm39)	I279N	probably damaging	Het
Zfp9	G	T	6: 118,441,730 (GRCm39)	P311T	probably damaging	Het

Other mutations in Trim65

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01420:Trim65	APN	11	116,017,335 (GRCm39)	missense	probably damaging	1.00
PIT4531001:Trim65	UTSW	11	116,018,535 (GRCm39)	missense	possibly damaging	0.85
R0105:Trim65	UTSW	11	116,016,892 (GRCm39)	makesense	probably null
R0126:Trim65	UTSW	11	116,015,430 (GRCm39)	splice site	probably benign
R0268:Trim65	UTSW	11	116,017,470 (GRCm39)	splice site	probably benign
R0647:Trim65	UTSW	11	116,019,036 (GRCm39)	missense	possibly damaging	0.92
R2234:Trim65	UTSW	11	116,021,503 (GRCm39)	missense	possibly damaging	0.91
R2235:Trim65	UTSW	11	116,021,503 (GRCm39)	missense	possibly damaging	0.91
R4011:Trim65	UTSW	11	116,018,529 (GRCm39)	missense	probably benign	0.00
R4086:Trim65	UTSW	11	116,017,305 (GRCm39)	nonsense	probably null
R4089:Trim65	UTSW	11	116,017,305 (GRCm39)	nonsense	probably null
R4434:Trim65	UTSW	11	116,018,435 (GRCm39)	nonsense	probably null
R5407:Trim65	UTSW	11	116,016,906 (GRCm39)	missense	probably benign
R5947:Trim65	UTSW	11	116,019,108 (GRCm39)	missense	probably damaging	0.99
R6299:Trim65	UTSW	11	116,017,377 (GRCm39)	missense	probably benign	0.00
R7248:Trim65	UTSW	11	116,018,534 (GRCm39)	missense	probably benign	0.01
R7336:Trim65	UTSW	11	116,019,116 (GRCm39)	missense	probably benign	0.00
R7496:Trim65	UTSW	11	116,017,142 (GRCm39)	missense	probably damaging	1.00
R7835:Trim65	UTSW	11	116,021,755 (GRCm39)	missense	probably damaging	1.00
R7849:Trim65	UTSW	11	116,017,082 (GRCm39)	missense	probably damaging	0.99
R8143:Trim65	UTSW	11	116,017,287 (GRCm39)	missense	probably benign	0.09
R8195:Trim65	UTSW	11	116,017,037 (GRCm39)	missense	probably benign	0.04
R8783:Trim65	UTSW	11	116,017,143 (GRCm39)	missense	probably damaging	1.00
R9158:Trim65	UTSW	11	116,018,050 (GRCm39)	missense	probably benign	0.01
R9740:Trim65	UTSW	11	116,021,434 (GRCm39)	missense	probably benign	0.26
R9751:Trim65	UTSW	11	116,021,564 (GRCm39)	missense	probably benign	0.01
X0061:Trim65	UTSW	11	116,017,397 (GRCm39)	missense	probably benign	0.39
X0066:Trim65	UTSW	11	116,021,672 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- AGATTTGCCATTGTGCCAGG -3'
(R):5'- ATAGATGGAGCCACGGTAACC -3'

Sequencing Primer
(F):5'- ATTGTGCCAGGCCTGCATAC -3'
(R):5'- ATGGAGCCACGGTAACCCTATG -3'

Posted On

2015-05-15