Mutagenetix > Incidental Mutation

Incidental Mutation 'R5947:Trim65'

472240

Institutional Source

Beutler Lab

Gene Symbol

Trim65

Ensembl Gene

ENSMUSG00000054517

Gene Name

tripartite motif-containing 65

Synonyms

4732463G12Rik

MMRRC Submission

044138-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5947 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116012672-116021954 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116019108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 144 (R144G)

Ref Sequence

ENSEMBL: ENSMUSP00000102048 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067632] [ENSMUST00000106439] [ENSMUST00000106440]

AlphaFold

Q8BFW4

Predicted Effect

probably damaging
Transcript: ENSMUST00000067632
AA Change: R144G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000063410
Gene: ENSMUSG00000054517
AA Change: R144G

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 benign
Transcript: ENSMUST00000106439

SMART Domains

Protein: ENSMUSP00000102047
Gene: ENSMUSG00000020775

Domain	Start	End	E-Value	Type
low complexity region	55	67	N/A	INTRINSIC
Pfam:PBP	183	313	3e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106440
AA Change: R144G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102048
Gene: ENSMUSG00000054517
AA Change: R144G

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: ENSMUST00000133159

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142550

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154061

Meta Mutation Damage Score

0.1603

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.1%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	T	C	8: 124,694,737 (GRCm39)		probably null	Het
Abt1	T	C	13: 23,606,225 (GRCm39)	E243G	possibly damaging	Het
Afap1l1	A	G	18: 61,876,771 (GRCm39)	S361P	probably damaging	Het
Alms1	T	C	6: 85,596,694 (GRCm39)	S507P	probably benign	Het
Atp13a3	A	G	16: 30,181,518 (GRCm39)	V34A	probably benign	Het
Atpaf2	A	T	11: 60,296,708 (GRCm39)		probably benign	Het
Bbs1	A	C	19: 4,943,022 (GRCm39)	L456R	probably benign	Het
Bri3bp	G	T	5: 125,529,217 (GRCm39)	G84*	probably null	Het
Bri3bp	G	C	5: 125,529,218 (GRCm39)		probably benign	Het
Car10	A	C	11: 93,381,439 (GRCm39)	H134P	probably damaging	Het
Cntrl	A	G	2: 35,006,691 (GRCm39)	E119G	probably damaging	Het
Cxcl3	C	T	5: 90,934,175 (GRCm39)		probably benign	Het
Dppa4	T	C	16: 48,111,471 (GRCm39)	V100A	possibly damaging	Het
Elmo1	G	T	13: 20,474,553 (GRCm39)	E105*	probably null	Het
Esrp2	T	G	8: 106,859,565 (GRCm39)		probably benign	Het
Exoc3l4	A	G	12: 111,388,835 (GRCm39)	K108R	possibly damaging	Het
Exph5	G	A	9: 53,286,522 (GRCm39)	R1201H	probably benign	Het
Galnt3	A	C	2: 65,914,500 (GRCm39)		probably benign	Het
Gm14486	C	T	2: 30,548,813 (GRCm39)		noncoding transcript	Het
Gna12	T	A	5: 140,746,717 (GRCm39)	I243F	probably damaging	Het
Itga5	A	T	15: 103,265,212 (GRCm39)	W232R	probably damaging	Het
Lekr1	A	T	3: 65,680,498 (GRCm39)		noncoding transcript	Het
Lrp1	C	T	10: 127,425,423 (GRCm39)		probably null	Het
Mast4	T	C	13: 102,872,148 (GRCm39)	M2215V	probably benign	Het
Mfap5	T	C	6: 122,502,945 (GRCm39)	Y52H	probably damaging	Het
Mrps31	A	G	8: 22,904,991 (GRCm39)	K127E	possibly damaging	Het
Mto1	C	T	9: 78,368,311 (GRCm39)	T485M	probably damaging	Het
Mybbp1a	G	A	11: 72,333,257 (GRCm39)	C107Y	probably damaging	Het
Nedd4	G	A	9: 72,638,132 (GRCm39)		probably benign	Het
Nek2	A	G	1: 191,561,597 (GRCm39)	E360G	probably benign	Het
Notch1	T	A	2: 26,352,540 (GRCm39)		probably benign	Het
Nubp1	T	C	16: 10,238,050 (GRCm39)		probably benign	Het
Pcdhb1	G	A	18: 37,399,726 (GRCm39)	R559H	possibly damaging	Het
Pdcd11	G	A	19: 47,117,702 (GRCm39)	V1684I	probably benign	Het
Pggt1b	G	T	18: 46,382,007 (GRCm39)	N258K	probably benign	Het
Pou6f1	C	T	15: 100,484,001 (GRCm39)	V166M	possibly damaging	Het
Pprc1	A	G	19: 46,052,111 (GRCm39)	D546G	possibly damaging	Het
Psapl1	T	C	5: 36,361,651 (GRCm39)	V81A	probably benign	Het
Rin2	T	A	2: 145,686,863 (GRCm39)		probably benign	Het
Rpf1	A	G	3: 146,212,299 (GRCm39)	F347S	probably damaging	Het
Rrp12	A	T	19: 41,859,247 (GRCm39)		probably null	Het
Ryr1	A	T	7: 28,771,349 (GRCm39)	L2557Q	probably null	Het
Slc1a7	T	C	4: 107,867,497 (GRCm39)		probably benign	Het
Slc35e2	T	A	4: 155,696,171 (GRCm39)	M186K	possibly damaging	Het
Slc49a4	T	C	16: 35,550,676 (GRCm39)	T308A	probably benign	Het
Snx6	G	T	12: 54,817,549 (GRCm39)	S116*	probably null	Het
Sptan1	T	C	2: 29,884,379 (GRCm39)		probably null	Het
Sucla2	T	A	14: 73,830,109 (GRCm39)	M382K	probably damaging	Het
Susd5	T	C	9: 113,886,659 (GRCm39)	L16P	possibly damaging	Het
Tmem260	G	A	14: 48,724,258 (GRCm39)	A369T	possibly damaging	Het
Tmprss6	A	G	15: 78,336,722 (GRCm39)	Y393H	probably damaging	Het
Tnrc6c	A	T	11: 117,613,345 (GRCm39)	Q501L	probably damaging	Het
Trim17	A	G	11: 58,856,369 (GRCm39)	Y142C	probably damaging	Het
Trpm1	A	G	7: 63,873,547 (GRCm39)	T601A	probably benign	Het
Ttn	A	T	2: 76,564,688 (GRCm39)	V28483E	probably damaging	Het
Ube2l3	T	C	16: 17,019,340 (GRCm39)		probably null	Het
Ube2l3	G	T	16: 17,019,336 (GRCm39)		probably benign	Het
Yme1l1	T	C	2: 23,085,318 (GRCm39)		probably benign	Het
Zfat	A	G	15: 68,051,806 (GRCm39)	S663P	probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	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
R4088: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
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'- CTGGCTTCTTGGTCAACGTC -3'
(R):5'- TCCAGGTAGAGAAAGGACCC -3'

Sequencing Primer
(F):5'- GGTCAACGTCCCACTCTGTG -3'
(R):5'- GACCCTATCCAGGCCTCC -3'

Posted On

2017-03-31