Mutagenetix > Incidental Mutation

Incidental Mutation 'R7079:Trim23'

568397

Institutional Source

Beutler Lab

Gene Symbol

Trim23

Ensembl Gene

ENSMUSG00000021712

Gene Name

tripartite motif-containing 23

Synonyms

Arfd1, 6330516O20Rik

MMRRC Submission

045173-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.299) question?

Stock #

R7079 (G1)

Quality Score

181.009

Status

Validated

Chromosome

Chromosomal Location

104315305-104339880 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 104323801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000070767 (fasta)

Gene Model

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

AlphaFold

Q8BGX0

Predicted Effect

probably null
Transcript: ENSMUST00000022225

SMART Domains

Protein: ENSMUSP00000022225
Gene: ENSMUSG00000021712

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 null
Transcript: ENSMUST00000069174

SMART Domains

Protein: ENSMUSP00000069371
Gene: ENSMUSG00000021712

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 null
Transcript: ENSMUST00000069187

SMART Domains

Protein: ENSMUSP00000070767
Gene: ENSMUSG00000021712

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (50/51)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,402,323 (GRCm39)	L405S	possibly damaging	Het
2310009B15Rik	T	A	1: 138,779,865 (GRCm39)	Q129L	possibly damaging	Het
4921509C19Rik	T	G	2: 151,315,198 (GRCm39)	D160A	probably damaging	Het
Aspn	A	G	13: 49,720,031 (GRCm39)	Y349C	probably damaging	Het
Atp2b1	A	G	10: 98,854,595 (GRCm39)	T1063A	probably benign	Het
BC035947	T	C	1: 78,474,552 (GRCm39)	E660G	probably damaging	Het
Cadps2	A	G	6: 23,323,408 (GRCm39)	L970P	probably damaging	Het
Caskin1	T	C	17: 24,717,858 (GRCm39)	I215T	probably benign	Het
Cort	C	G	4: 149,211,848 (GRCm39)	G85R	probably benign	Het
Cyp1a2	T	C	9: 57,589,161 (GRCm39)	I218V	probably benign	Het
Egfem1	T	A	3: 29,207,731 (GRCm39)	H140Q	probably benign	Het
Elapor2	A	G	5: 9,449,253 (GRCm39)	Y127C	probably damaging	Het
Fbln5	G	A	12: 101,723,667 (GRCm39)	P345S	probably damaging	Het
Fbxw21	A	G	9: 108,974,578 (GRCm39)	I314T	probably benign	Het
Gfpt2	G	A	11: 49,728,578 (GRCm39)	V679I	possibly damaging	Het
Gm10837	C	G	14: 122,728,142 (GRCm39)	A6G	unknown	Het
Grm1	T	C	10: 10,955,702 (GRCm39)	D194G	probably damaging	Het
Hectd1	G	A	12: 51,834,638 (GRCm39)	T875M	possibly damaging	Het
Hey2	T	A	10: 30,710,382 (GRCm39)	I124F	probably benign	Het
Hhat	T	C	1: 192,235,354 (GRCm39)	H434R	possibly damaging	Het
Itpripl2	A	G	7: 118,090,092 (GRCm39)	F156L	possibly damaging	Het
Kctd11	A	G	11: 69,770,847 (GRCm39)	Y64H	probably damaging	Het
Lmln	T	C	16: 32,887,661 (GRCm39)	L97P	probably benign	Het
Lrrc30	T	C	17: 67,939,016 (GRCm39)	D188G	possibly damaging	Het
Mmd	T	A	11: 90,158,325 (GRCm39)		probably null	Het
Nav3	G	A	10: 109,603,153 (GRCm39)	S1132L	probably benign	Het
Or1l4	C	A	2: 37,092,185 (GRCm39)	H311N	probably benign	Het
Or4c101	C	A	2: 88,389,853 (GRCm39)	N2K	probably damaging	Het
Or52ab7	C	T	7: 102,978,391 (GRCm39)	R233C	probably benign	Het
Pcdh15	A	G	10: 74,152,957 (GRCm39)	T421A	probably benign	Het
Pfkm	G	A	15: 97,992,963 (GRCm39)	R7H	probably benign	Het
Psme2b	A	G	11: 48,836,443 (GRCm39)	F168S	probably damaging	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Ptpn13	T	C	5: 103,649,752 (GRCm39)	V385A	probably benign	Het
Reep5	G	A	18: 34,480,176 (GRCm39)	T189I	probably damaging	Het
Sacm1l	T	A	9: 123,399,062 (GRCm39)	Y272N	probably damaging	Het
Slc26a6	T	A	9: 108,735,147 (GRCm39)	H348Q	probably damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG	CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG	16: 91,453,729 (GRCm39)		probably benign	Het
Spata31f1a	T	C	4: 42,851,718 (GRCm39)	E146G	probably benign	Het
Stkld1	A	G	2: 26,839,359 (GRCm39)	I342V	probably benign	Het
Trmt13	T	C	3: 116,376,480 (GRCm39)	T304A	probably benign	Het
Tyw3	G	C	3: 154,299,426 (GRCm39)	S94R	probably benign	Het
Ubqln3	A	T	7: 103,790,578 (GRCm39)	I504K	probably benign	Het
Uhrf2	T	G	19: 30,060,190 (GRCm39)	N519K	probably null	Het
Wdr93	T	C	7: 79,399,040 (GRCm39)	M58T	probably damaging	Het
Wwc2	G	A	8: 48,300,580 (GRCm39)	T961M	unknown	Het
Zfp35	C	T	18: 24,136,357 (GRCm39)	H234Y	possibly damaging	Het
Zscan21	C	T	5: 138,124,728 (GRCm39)	P215S	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
R5383:Trim23	UTSW	13	104,335,205 (GRCm39)	missense	probably damaging	1.00
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
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'- CCACTGATTCATTGAACAAGCTGTAG -3'
(R):5'- GTCTGAGCACAAGTGAGTTGC -3'

Sequencing Primer
(F):5'- CTGTAGCTGGTTATTTTCTGTACC -3'
(R):5'- CACACACAGTGCAATATACAGATG -3'

Posted On

2019-07-16