Mutagenetix > Incidental Mutation

Incidental Mutation 'R6130:Trim21'

487091

Institutional Source

Beutler Lab

Gene Symbol

Trim21

Ensembl Gene

ENSMUSG00000030966

Gene Name

tripartite motif-containing 21

Synonyms

Ro52, Ssa1

MMRRC Submission

044277-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6130 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102207127-102214689 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102212498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 156 (L156H)

Ref Sequence

ENSEMBL: ENSMUSP00000102526 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033264] [ENSMUST00000106913]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033264
AA Change: L156H

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000033264
Gene: ENSMUSG00000030966
AA Change: L156H

Domain	Start	End	E-Value	Type
RING	12	50	6e-8	SMART
BBOX	83	124	2.71e-15	SMART
coiled coil region	184	242	N/A	INTRINSIC
PRY	282	334	1.08e-23	SMART
SPRY	335	461	8.9e-35	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106913
AA Change: L156H

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102526
Gene: ENSMUSG00000030966
AA Change: L156H

Domain	Start	End	E-Value	Type
RING	12	50	6e-8	SMART
BBOX	83	124	2.71e-15	SMART
coiled coil region	184	242	N/A	INTRINSIC
PRY	282	334	1.08e-23	SMART
SPRY	335	461	8.9e-35	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209679

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209907

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210261

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

96% (46/48)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes 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. The encoded protein is part of the RoSSA ribonucleoprotein, which includes a single polypeptide and one of four small RNA molecules. The RoSSA particle localizes to both the cytoplasm and the nucleus. RoSSA interacts with autoantigens in patients with Sjogren syndrome and systemic lupus erythematosus. Alternatively spliced transcript variants for this gene have been described but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Unmanipulated homozygous mice are normal, but leads to tissue inflammation and systemic autoimmunity in vivo and reduced number of CD11c+ dendritic cells from mutant bone marrow in vitro. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,786,596 (GRCm39)	I7M	unknown	Het
Abi3	T	A	11: 95,727,921 (GRCm39)	E90V	probably damaging	Het
Adgrv1	A	C	13: 81,575,864 (GRCm39)	V4834G	probably damaging	Het
Aen	A	T	7: 78,552,387 (GRCm39)		probably null	Het
Ankrd55	A	G	13: 112,454,980 (GRCm39)	D26G	probably damaging	Het
Antxr2	T	C	5: 98,152,131 (GRCm39)	E160G	possibly damaging	Het
Auts2	T	C	5: 131,469,061 (GRCm39)	H528R	probably damaging	Het
Casd1	A	G	6: 4,641,948 (GRCm39)	T742A	probably damaging	Het
Ccdc39	T	C	3: 33,895,341 (GRCm39)		probably null	Het
Ctla4	T	C	1: 60,951,650 (GRCm39)	Y60H	probably damaging	Het
Dennd4b	T	C	3: 90,183,566 (GRCm39)	L935P	probably damaging	Het
Dnah6	T	A	6: 73,165,477 (GRCm39)	T543S	probably benign	Het
Dnai3	A	C	3: 145,748,559 (GRCm39)	Y852D	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Fbxo6	A	T	4: 148,233,979 (GRCm39)	I39N	probably damaging	Het
Fdxacb1	C	T	9: 50,683,902 (GRCm39)	R420*	probably null	Het
Flg	A	G	3: 93,200,023 (GRCm39)		probably benign	Het
Fpr1	T	A	17: 18,097,897 (GRCm39)	I31F	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gsta1	T	A	9: 78,149,847 (GRCm39)	F220Y	probably damaging	Het
Hmg20a	T	A	9: 56,395,891 (GRCm39)		probably null	Het
Igf2bp1	A	C	11: 95,864,846 (GRCm39)	L201R	probably damaging	Het
Jph3	G	A	8: 122,479,826 (GRCm39)	R168H	probably damaging	Het
Kif1a	T	A	1: 92,964,623 (GRCm39)	I1318F	probably damaging	Het
Lamc2	T	C	1: 153,012,523 (GRCm39)	N717S	probably benign	Het
Lepr	A	T	4: 101,622,569 (GRCm39)	S450C	probably damaging	Het
Muc16	A	G	9: 18,501,994 (GRCm39)	V6535A	probably damaging	Het
Myom3	A	G	4: 135,489,882 (GRCm39)	T18A	probably benign	Het
Nlrp5	A	G	7: 23,103,598 (GRCm39)	K22E	probably benign	Het
Obscn	A	C	11: 58,968,771 (GRCm39)	S2534A	possibly damaging	Het
Or1j21	A	T	2: 36,684,055 (GRCm39)	D269V	probably benign	Het
Or2ak5	A	G	11: 58,611,133 (GRCm39)	V247A	probably damaging	Het
Pcdhga8	T	A	18: 37,860,580 (GRCm39)	N545K	possibly damaging	Het
Pcsk5	A	T	19: 17,488,920 (GRCm39)	Y967N	probably damaging	Het
Robo2	C	T	16: 73,717,570 (GRCm39)	G100S	probably benign	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Saxo4	G	A	19: 10,455,128 (GRCm39)	P233L	probably benign	Het
Scap	A	G	9: 110,209,447 (GRCm39)	T707A	possibly damaging	Het
Scarf1	A	G	11: 75,416,565 (GRCm39)	Q669R	probably benign	Het
Scin	T	C	12: 40,119,435 (GRCm39)	D531G	probably benign	Het
Sh2b3	T	C	5: 121,953,626 (GRCm39)		probably null	Het
Slco1a6	T	C	6: 142,032,155 (GRCm39)	S657G	probably benign	Het
Stil	T	A	4: 114,887,058 (GRCm39)		probably null	Het
Syna	T	A	5: 134,587,122 (GRCm39)	Q609L	possibly damaging	Het
Tmem59l	A	G	8: 70,937,255 (GRCm39)	S271P	probably damaging	Het
Tns2	A	G	15: 102,019,676 (GRCm39)	E522G	probably damaging	Het
Trappc6a	G	A	7: 19,249,219 (GRCm39)	A149T	probably benign	Het
Trpv3	A	G	11: 73,187,309 (GRCm39)	R714G	possibly damaging	Het
Zfp87	T	A	13: 74,520,460 (GRCm39)	Q206L	possibly damaging	Het

Other mutations in Trim21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Trim21	APN	7	102,208,805 (GRCm39)	missense	probably damaging	1.00
IGL01729:Trim21	APN	7	102,213,100 (GRCm39)	missense	probably damaging	0.97
IGL02680:Trim21	APN	7	102,208,870 (GRCm39)	missense	probably benign	0.44
IGL03349:Trim21	APN	7	102,212,484 (GRCm39)	missense	probably benign	0.00
R1508:Trim21	UTSW	7	102,208,783 (GRCm39)	missense	possibly damaging	0.52
R1662:Trim21	UTSW	7	102,211,105 (GRCm39)	nonsense	probably null
R2904:Trim21	UTSW	7	102,209,178 (GRCm39)	missense	probably benign	0.00
R4482:Trim21	UTSW	7	102,213,140 (GRCm39)	nonsense	probably null
R5480:Trim21	UTSW	7	102,208,463 (GRCm39)	missense	probably benign	0.05
R5606:Trim21	UTSW	7	102,208,813 (GRCm39)	missense	probably damaging	0.99
R6214:Trim21	UTSW	7	102,208,646 (GRCm39)	missense	probably damaging	0.96
R6215:Trim21	UTSW	7	102,208,646 (GRCm39)	missense	probably damaging	0.96
R6291:Trim21	UTSW	7	102,213,289 (GRCm39)	missense	probably damaging	1.00
R6731:Trim21	UTSW	7	102,208,419 (GRCm39)	missense	probably damaging	1.00
R7612:Trim21	UTSW	7	102,208,742 (GRCm39)	missense	probably benign	0.01
R8008:Trim21	UTSW	7	102,209,183 (GRCm39)	missense	probably benign	0.01
R8491:Trim21	UTSW	7	102,208,689 (GRCm39)	missense	probably benign	0.12
R8784:Trim21	UTSW	7	102,208,675 (GRCm39)	missense	probably benign	0.00
R8991:Trim21	UTSW	7	102,212,908 (GRCm39)	missense	probably benign
R9380:Trim21	UTSW	7	102,212,992 (GRCm39)	missense	probably damaging	1.00
R9730:Trim21	UTSW	7	102,213,247 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- GTGCCAGATTGGGGAAAATC -3'
(R):5'- GAAATGCAGTGGCCCAGATC -3'

Sequencing Primer
(F):5'- AAATCCCATCTGATTTTAAGCTTCC -3'
(R):5'- AGTGGCCCAGATCCCGTTAC -3'

Posted On

2017-10-10