Mutagenetix > Incidental Mutation

Incidental Mutation 'R5383:Trim23'

424866

Institutional Source

Beutler Lab

Gene Symbol

Trim23

Ensembl Gene

ENSMUSG00000021712

Gene Name

tripartite motif-containing 23

Synonyms

Arfd1, 6330516O20Rik

MMRRC Submission

042958-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.318) question?

Stock #

R5383 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104315305-104339880 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 104335205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 410 (N410K)

Ref Sequence

ENSEMBL: ENSMUSP00000070767 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022225] [ENSMUST00000069174] [ENSMUST00000069187]

AlphaFold

Q8BGX0

Predicted Effect

probably damaging
Transcript: ENSMUST00000022225
AA Change: N471K

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

SMART Domains

Protein: ENSMUSP00000022225
Gene: ENSMUSG00000021712
AA Change: N471K

Domain	Start	End	E-Value	Type
RING	31	75	3.07e-5	SMART
BBOX	122	168	3.07e-1	SMART
BBOX	173	219	1.32e-4	SMART
BBC	226	370	2.89e-41	SMART
ARF	387	569	1.15e-78	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000069174
AA Change: N451K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000069371
Gene: ENSMUSG00000021712
AA Change: N451K

Domain	Start	End	E-Value	Type
RING	11	55	3.07e-5	SMART
BBOX	102	148	3.07e-1	SMART
BBOX	153	199	1.32e-4	SMART
BBC	206	350	2.89e-41	SMART
ARF	367	549	1.15e-78	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000069187
AA Change: N410K

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

SMART Domains

Protein: ENSMUSP00000070767
Gene: ENSMUSG00000021712
AA Change: N410K

Domain	Start	End	E-Value	Type
RING	31	75	3.07e-5	SMART
BBOX	122	168	3.07e-1	SMART
BBOX	173	219	5.95e-3	SMART
BBC	182	309	8.07e-22	SMART
ARF	326	508	1.15e-78	SMART

Meta Mutation Damage Score

0.4142

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 96.0%

Validation Efficiency

97% (61/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein is also a member of the ADP ribosylation factor family of guanine nucleotide-binding family of proteins. Its carboxy terminus contains an ADP-ribosylation factor domain and a guanine nucleotide binding site, while the amino terminus contains a GTPase activating protein domain which acts on the guanine nucleotide binding site. The protein localizes to lysosomes and the Golgi apparatus. It plays a role in the formation of intracellular transport vesicles, their movement from one compartment to another, and phopholipase D activation. Three alternatively spliced transcript variants for this gene have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit mild myopathy with sarcotubular myopathy, decreased fertility, and decreased axon diameter. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	T	17: 9,211,532 (GRCm39)	Y227F	possibly damaging	Het
Aadac	T	C	3: 59,943,496 (GRCm39)		probably benign	Het
Abl2	G	A	1: 156,469,802 (GRCm39)	G918E	possibly damaging	Het
Acvr1c	T	C	2: 58,177,747 (GRCm39)	T241A	probably damaging	Het
Adck1	T	C	12: 88,422,373 (GRCm39)	V328A	probably benign	Het
Ano6	A	G	15: 95,813,918 (GRCm39)	I279V	probably benign	Het
AW551984	T	A	9: 39,501,994 (GRCm39)	Y704F	probably benign	Het
C1s1	T	C	6: 124,511,360 (GRCm39)	D321G	probably damaging	Het
Cacna1d	T	A	14: 29,767,236 (GRCm39)	D1910V	possibly damaging	Het
Cdh5	A	G	8: 104,864,479 (GRCm39)	Q480R	probably benign	Het
Cdhr1	C	T	14: 36,810,964 (GRCm39)	V266M	possibly damaging	Het
Cdk5rap1	A	T	2: 154,192,755 (GRCm39)	V414D	possibly damaging	Het
Ctdnep1	T	A	11: 69,875,222 (GRCm39)		probably benign	Het
Cyfip2	T	C	11: 46,168,918 (GRCm39)	M212V	possibly damaging	Het
D130043K22Rik	G	A	13: 25,041,397 (GRCm39)	S273N	probably benign	Het
Ddi2	A	G	4: 141,412,163 (GRCm39)	S250P	probably damaging	Het
Dennd1b	A	G	1: 139,095,409 (GRCm39)	T486A	probably benign	Het
Disc1	A	G	8: 125,862,196 (GRCm39)	T523A	probably damaging	Het
Dmbx1	A	G	4: 115,775,342 (GRCm39)	S313P	probably damaging	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Dnah11	T	C	12: 118,049,432 (GRCm39)	E1664G	probably damaging	Het
Dpysl3	A	T	18: 43,571,103 (GRCm39)	V57E	probably damaging	Het
Fam98a	C	T	17: 75,845,576 (GRCm39)	G390E	unknown	Het
Hook3	C	A	8: 26,609,017 (GRCm39)	R9L	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Impg2	A	G	16: 56,063,989 (GRCm39)	D298G	probably benign	Het
Inf2	T	A	12: 112,566,579 (GRCm39)	V48D	probably damaging	Het
Itprid1	T	A	6: 55,955,275 (GRCm39)	L961H	probably benign	Het
Kcnh1	G	A	1: 192,187,999 (GRCm39)	G820D	probably benign	Het
Lsm14a	C	T	7: 34,088,789 (GRCm39)	A39T	possibly damaging	Het
Muc2	T	C	7: 141,307,456 (GRCm39)	C804R	probably damaging	Het
Nim1k	C	T	13: 120,189,335 (GRCm39)	V25M	probably benign	Het
Or11g25	T	A	14: 50,723,509 (GRCm39)	L198*	probably null	Het
Or4a73	T	C	2: 89,421,457 (GRCm39)	M1V	probably null	Het
Or5b122	T	A	19: 13,563,439 (GRCm39)	M257K	probably damaging	Het
Or6c68	A	G	10: 129,158,205 (GRCm39)	T238A	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Phf8-ps	T	C	17: 33,284,231 (GRCm39)	D857G	probably benign	Het
Pitrm1	T	A	13: 6,627,468 (GRCm39)	H856Q	probably damaging	Het
Pkd1	T	C	17: 24,793,349 (GRCm39)	C1679R	probably benign	Het
Pkp4	T	A	2: 59,140,617 (GRCm39)	L441*	probably null	Het
Ppp4r4	T	C	12: 103,550,427 (GRCm39)	F284L	probably benign	Het
Ptprt	T	A	2: 161,539,969 (GRCm39)	K769M	probably damaging	Het
Rbm12	G	T	2: 155,945,285 (GRCm39)		probably benign	Het
Rpf1	T	C	3: 146,225,146 (GRCm39)	D94G	possibly damaging	Het
Scap	G	T	9: 110,203,597 (GRCm39)	K310N	probably damaging	Het
Smpd2	C	T	10: 41,364,698 (GRCm39)		probably benign	Het
Sp110	TC	TCC	1: 85,519,290 (GRCm39)		probably null	Het
Specc1l	T	A	10: 75,082,539 (GRCm39)	I662N	possibly damaging	Het
Sptan1	T	A	2: 29,901,340 (GRCm39)	V1496D	probably damaging	Het
Srrm4	T	C	5: 116,609,319 (GRCm39)		probably benign	Het
Taf2	A	G	15: 54,912,815 (GRCm39)	I515T	possibly damaging	Het
Tdrd3	C	T	14: 87,718,227 (GRCm39)	Q203*	probably null	Het
Tfap2b	A	T	1: 19,296,722 (GRCm39)	M222L	probably benign	Het
Tmem43	G	A	6: 91,450,872 (GRCm39)	A2T	probably benign	Het
Trav9-1	T	A	14: 53,725,833 (GRCm39)	I49N	probably benign	Het
Ttbk1	T	C	17: 46,778,342 (GRCm39)	T567A	probably damaging	Het
Unc79	A	G	12: 103,070,886 (GRCm39)	N1081S	possibly damaging	Het
Zfp451	A	C	1: 33,852,887 (GRCm39)	I9R	probably damaging	Het
Zfp563	T	A	17: 33,323,681 (GRCm39)	M92K	probably benign	Het
Zfp618	G	A	4: 63,013,729 (GRCm39)	G198D	probably benign	Het
Zfp637	G	T	6: 117,820,270 (GRCm39)		probably benign	Het

Other mutations in Trim23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02092:Trim23	APN	13	104,324,120 (GRCm39)	missense	probably benign	0.30
R0462:Trim23	UTSW	13	104,334,541 (GRCm39)	missense	probably damaging	1.00
R0638:Trim23	UTSW	13	104,337,817 (GRCm39)	missense	probably benign	0.00
R0980:Trim23	UTSW	13	104,324,635 (GRCm39)	missense	probably damaging	1.00
R1087:Trim23	UTSW	13	104,324,618 (GRCm39)	missense	possibly damaging	0.66
R1764:Trim23	UTSW	13	104,335,126 (GRCm39)	missense	probably damaging	1.00
R2441:Trim23	UTSW	13	104,328,583 (GRCm39)	missense	probably damaging	1.00
R4006:Trim23	UTSW	13	104,324,131 (GRCm39)	missense	probably benign	0.00
R4010:Trim23	UTSW	13	104,317,526 (GRCm39)	unclassified	probably benign
R5162:Trim23	UTSW	13	104,317,682 (GRCm39)	missense	probably damaging	0.98
R5389:Trim23	UTSW	13	104,328,541 (GRCm39)	missense	probably damaging	0.96
R5520:Trim23	UTSW	13	104,324,035 (GRCm39)	missense	probably damaging	1.00
R5539:Trim23	UTSW	13	104,334,541 (GRCm39)	missense	probably damaging	1.00
R5557:Trim23	UTSW	13	104,324,017 (GRCm39)	missense	probably damaging	1.00
R7079:Trim23	UTSW	13	104,323,801 (GRCm39)	splice site	probably null
R7249:Trim23	UTSW	13	104,324,663 (GRCm39)	missense	probably damaging	0.99
R7290:Trim23	UTSW	13	104,323,941 (GRCm39)	missense	probably damaging	1.00
R7608:Trim23	UTSW	13	104,328,541 (GRCm39)	missense	probably benign	0.36
R8495:Trim23	UTSW	13	104,337,817 (GRCm39)	missense	probably benign	0.00
R8851:Trim23	UTSW	13	104,334,573 (GRCm39)	missense	possibly damaging	0.63
R8976:Trim23	UTSW	13	104,328,545 (GRCm39)	missense	probably damaging	0.96
R9122:Trim23	UTSW	13	104,317,681 (GRCm39)	missense	probably benign	0.08
Z1187:Trim23	UTSW	13	104,315,395 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGAGACAACTGCTAACTCAAAACTATG -3'
(R):5'- CAGCCAAGAGAAGCTAAGTCTG -3'

Sequencing Primer
(F):5'- GTTTTAATGTGGAAACTGTGGA -3'
(R):5'- CAGCCTAGTCTACAGAGTGAGTTC -3'

Posted On

2016-08-04