Mutagenetix > Incidental Mutation

Incidental Mutation 'R0638:Trim23'

56833

Institutional Source

Beutler Lab

Gene Symbol

Trim23

Ensembl Gene

ENSMUSG00000021712

Gene Name

tripartite motif-containing 23

Synonyms

Arfd1, 6330516O20Rik

MMRRC Submission

038827-MU

Accession Numbers

Essential gene?

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

Stock #

R0638 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104315305-104339880 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104337817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 522 (Y522H)

Ref Sequence

ENSEMBL: ENSMUSP00000069371 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022225] [ENSMUST00000022226] [ENSMUST00000069174] [ENSMUST00000069187]

AlphaFold

Q8BGX0

Predicted Effect

probably benign
Transcript: ENSMUST00000022225
AA Change: Y542H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000022225
Gene: ENSMUSG00000021712
AA Change: Y542H

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 benign
Transcript: ENSMUST00000022226

SMART Domains

Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713

Domain	Start	End	E-Value	Type
WD40	80	117	2.96e-2	SMART
WD40	122	161	8.49e-3	SMART
Blast:WD40	164	207	9e-6	BLAST
WD40	211	251	2.76e0	SMART
WD40	269	308	1.4e-3	SMART
Blast:WD40	343	382	2e-6	BLAST
Blast:WD40	433	460	3e-7	BLAST
Pfam:Pro_isomerase	493	645	1.9e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000069174
AA Change: Y522H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000069371
Gene: ENSMUSG00000021712
AA Change: Y522H

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 benign
Transcript: ENSMUST00000069187
AA Change: Y481H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000070767
Gene: ENSMUSG00000021712
AA Change: Y481H

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

0.0927

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.5%

Validation Efficiency

99% (76/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,547,572 (GRCm39)	Q161K	probably benign	Het
Aatk	A	T	11: 119,900,748 (GRCm39)	L1216Q	probably damaging	Het
Aifm3	T	C	16: 17,321,535 (GRCm39)	F463L	possibly damaging	Het
Antxr2	C	T	5: 98,108,496 (GRCm39)	W338*	probably null	Het
Apc2	T	C	10: 80,140,801 (GRCm39)	S219P	probably damaging	Het
Arfgap3	A	T	15: 83,192,389 (GRCm39)		probably null	Het
Arrdc5	A	G	17: 56,607,020 (GRCm39)	V75A	possibly damaging	Het
Atg16l2	A	T	7: 100,949,317 (GRCm39)		probably null	Het
Cacna1i	A	G	15: 80,265,281 (GRCm39)	N1511S	possibly damaging	Het
Cad	T	C	5: 31,235,032 (GRCm39)	Y2095H	probably damaging	Het
Chia1	T	C	3: 106,035,753 (GRCm39)		probably benign	Het
Crybg2	A	G	4: 133,801,765 (GRCm39)	D975G	probably damaging	Het
Dagla	T	C	19: 10,232,247 (GRCm39)	I480V	probably damaging	Het
Efl1	C	T	7: 82,301,095 (GRCm39)	T33I	probably damaging	Het
Esp36	A	G	17: 38,728,060 (GRCm39)	F74L	probably benign	Het
Faim	T	C	9: 98,874,149 (GRCm39)		probably benign	Het
Fam83h	G	T	15: 75,875,776 (GRCm39)	H520Q	probably benign	Het
Fbn2	A	T	18: 58,178,446 (GRCm39)	C1931S	probably damaging	Het
Frs3	A	G	17: 48,012,581 (GRCm39)	D96G	probably benign	Het
Gbp4	A	G	5: 105,269,706 (GRCm39)	M374T	probably damaging	Het
Gimap1	C	T	6: 48,718,359 (GRCm39)		probably benign	Het
Gm10010	A	G	6: 128,177,576 (GRCm39)		noncoding transcript	Het
Gm10355	T	C	3: 101,214,214 (GRCm39)		noncoding transcript	Het
Gmip	C	T	8: 70,264,095 (GRCm39)		probably benign	Het
Gpc2	A	T	5: 138,276,796 (GRCm39)	F110Y	possibly damaging	Het
Ifi44l	C	T	3: 151,468,396 (GRCm39)	V45M	probably benign	Het
Il15	T	C	8: 83,069,890 (GRCm39)	E58G	probably damaging	Het
Kat2b	T	C	17: 53,951,771 (GRCm39)		probably benign	Het
Kcnh7	C	A	2: 62,607,854 (GRCm39)	V576L	probably benign	Het
Lrrc66	T	A	5: 73,772,816 (GRCm39)		probably benign	Het
Mical1	A	G	10: 41,358,235 (GRCm39)	E416G	probably benign	Het
Mroh3	A	G	1: 136,118,740 (GRCm39)	Y526H	probably damaging	Het
Mtx2	T	C	2: 74,699,634 (GRCm39)		probably benign	Het
Naip6	A	T	13: 100,437,036 (GRCm39)	Y496N	probably benign	Het
Nfyc	A	G	4: 120,626,081 (GRCm39)	S73P	probably benign	Het
Or10v9	C	T	19: 11,832,487 (GRCm39)	V277M	probably damaging	Het
Or10v9	A	C	19: 11,832,732 (GRCm39)	V195G	probably damaging	Het
Or1e23	T	A	11: 73,407,750 (GRCm39)	I92F	probably damaging	Het
Or5ak25	A	G	2: 85,268,845 (GRCm39)	I219T	probably benign	Het
Or6c69b	T	A	10: 129,627,101 (GRCm39)	D119V	probably damaging	Het
P2ry14	A	G	3: 59,022,869 (GRCm39)	V206A	probably benign	Het
Polg	G	A	7: 79,109,896 (GRCm39)		probably benign	Het
Potefam1	T	C	2: 111,030,763 (GRCm39)	E382G	probably damaging	Het
Ptgs1	G	A	2: 36,130,868 (GRCm39)		probably benign	Het
Pus7l	A	G	15: 94,421,298 (GRCm39)	S671P	probably benign	Het
Ralgapa2	T	C	2: 146,184,112 (GRCm39)	T1547A	probably benign	Het
Rif1	T	C	2: 52,001,600 (GRCm39)	S1685P	probably benign	Het
Rnf213	T	C	11: 119,361,036 (GRCm39)	Y4452H	probably damaging	Het
Samd7	A	G	3: 30,810,670 (GRCm39)	D229G	probably benign	Het
Serpina3j	T	C	12: 104,281,078 (GRCm39)	S84P	possibly damaging	Het
Slc35d1	A	G	4: 103,070,441 (GRCm39)		probably benign	Het
Sorbs2	A	G	8: 46,249,347 (GRCm39)	D847G	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Steap4	T	C	5: 8,027,030 (GRCm39)		probably benign	Het
Tg	A	C	15: 66,589,057 (GRCm39)	T13P	probably damaging	Het
Timeless	T	A	10: 128,080,542 (GRCm39)	Y474*	probably null	Het
Tmem94	T	C	11: 115,682,886 (GRCm39)		probably null	Het
Trdmt1	G	A	2: 13,521,459 (GRCm39)		probably benign	Het
Ttc13	A	T	8: 125,401,105 (GRCm39)	S624T	probably damaging	Het
Txnl1	A	G	18: 63,825,135 (GRCm39)		probably benign	Het
Unkl	T	C	17: 25,427,057 (GRCm39)		probably benign	Het
Usp54	T	A	14: 20,639,437 (GRCm39)		probably benign	Het
Vcam1	T	C	3: 115,910,908 (GRCm39)	K497E	possibly damaging	Het
Vmn1r49	C	A	6: 90,049,648 (GRCm39)	S118I	possibly damaging	Het
Vmn2r118	T	C	17: 55,915,466 (GRCm39)	K495E	probably benign	Het
Wrnip1	G	A	13: 33,005,073 (GRCm39)	C560Y	possibly damaging	Het
Xkr5	T	C	8: 18,983,563 (GRCm39)	R660G	probably benign	Het
Zfp280c	A	G	X: 47,637,580 (GRCm39)		probably benign	Het
Zfp707	G	A	15: 75,846,978 (GRCm39)	A291T	possibly damaging	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
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
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'- TTTGCTTCTGAAAGGTGCCCCG -3'
(R):5'- AGGACCTTCTACTCATTGTCTGTGACC -3'

Sequencing Primer
(F):5'- GTTTAGGATTCAATCACAGTGTTACC -3'
(R):5'- CAATGGTACATTTCTCAGTCCAGG -3'

Posted On

2013-07-11