Mutagenetix > Incidental Mutation

Incidental Mutation 'R2212:Trim69'

239431

Institutional Source

Beutler Lab

Gene Symbol

Trim69

Ensembl Gene

ENSMUSG00000033368

Gene Name

tripartite motif-containing 69

Synonyms

Rnf36, Trif, 4921519C19Rik

MMRRC Submission

040214-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R2212 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121991189-122009503 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122009125 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 395 (V395A)

Ref Sequence

ENSEMBL: ENSMUSP00000047627 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028665] [ENSMUST00000036089]

AlphaFold

Q80X56

Predicted Effect

probably benign
Transcript: ENSMUST00000028665

SMART Domains

Protein: ENSMUSP00000028665
Gene: ENSMUSG00000027233

Domain	Start	End	E-Value	Type
low complexity region	33	41	N/A	INTRINSIC
low complexity region	143	165	N/A	INTRINSIC
low complexity region	215	227	N/A	INTRINSIC
Pfam:PAT1	247	490	6.7e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000036089
AA Change: V395A

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000047627
Gene: ENSMUSG00000033368
AA Change: V395A

Domain	Start	End	E-Value	Type
RING	42	82	8.48e-8	SMART
low complexity region	95	111	N/A	INTRINSIC
PDB:4NQJ\|C	144	322	2e-86	PDB
PRY	323	375	9.37e-19	SMART
SPRY	376	500	4.97e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143088

Meta Mutation Damage Score

0.3152

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

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 RING-B-box-coiled-coil (RBCC) family and encodes a protein with an N-terminal RING finger motif, a PRY domain and a C-terminal SPRY domain. The mouse ortholog of this gene is specifically expressed in germ cells at the round spermatid stages during spermatogenesis and, when overexpressed, induces apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,603,977 (GRCm39)	Y6C	probably damaging	Het
3425401B19Rik	T	A	14: 32,383,559 (GRCm39)	Q802L	probably benign	Het
Adarb2	T	C	13: 8,802,654 (GRCm39)	F643S	probably damaging	Het
Angptl4	A	G	17: 33,994,392 (GRCm39)	I401T	probably damaging	Het
Ap2a2	T	A	7: 141,178,689 (GRCm39)	N105K	probably benign	Het
Atp8b4	C	A	2: 126,217,677 (GRCm39)	W613L	probably damaging	Het
Cibar1	A	G	4: 12,171,696 (GRCm39)		probably null	Het
Coq10a	A	G	10: 128,200,998 (GRCm39)	V93A	possibly damaging	Het
Cyp4f39	A	T	17: 32,706,037 (GRCm39)	E376V	possibly damaging	Het
Deup1	A	T	9: 15,511,139 (GRCm39)	D213E	probably benign	Het
Ehmt2	A	G	17: 35,118,341 (GRCm39)	S39G	probably benign	Het
Eya1	T	A	1: 14,344,433 (GRCm39)		probably null	Het
Fcna	G	C	2: 25,517,505 (GRCm39)	P49A	probably damaging	Het
Flnb	AAGGAG	AAG	14: 7,881,652 (GRCm38)		probably benign	Het
Fscn2	G	T	11: 120,252,417 (GRCm39)		probably benign	Het
Gckr	T	A	5: 31,458,211 (GRCm39)		probably null	Het
Golgb1	A	G	16: 36,707,709 (GRCm39)	K68E	probably damaging	Het
H2-M11	G	A	17: 36,859,822 (GRCm39)	V272M	probably damaging	Het
Hace1	T	A	10: 45,524,771 (GRCm39)	D234E	possibly damaging	Het
Il18r1	A	T	1: 40,530,227 (GRCm39)	D318V	probably damaging	Het
Il4i1	T	C	7: 44,486,082 (GRCm39)	L22P	probably damaging	Het
Kcnq3	A	T	15: 65,892,142 (GRCm39)	F411Y	probably benign	Het
Kcnt2	A	G	1: 140,458,538 (GRCm39)	Y775C	probably damaging	Het
Krt84	A	C	15: 101,440,973 (GRCm39)	V73G	probably benign	Het
Lcp2	A	C	11: 34,020,995 (GRCm39)	D117A	probably benign	Het
Lemd1	C	A	1: 132,156,024 (GRCm39)	T22K	probably benign	Het
Mdm4	T	C	1: 132,922,260 (GRCm39)	D294G	probably damaging	Het
Mep1a	G	A	17: 43,788,154 (GRCm39)	A634V	probably benign	Het
Myh15	A	G	16: 48,959,095 (GRCm39)	D989G	probably benign	Het
Myo1g	G	T	11: 6,467,870 (GRCm39)	H188Q	possibly damaging	Het
Nsmaf	C	A	4: 6,396,732 (GRCm39)	L918F	probably damaging	Het
Or10d4	T	A	9: 39,580,524 (GRCm39)	M57K	probably damaging	Het
Or2v2	C	T	11: 49,004,043 (GRCm39)	C170Y	probably damaging	Het
Or51f5	T	C	7: 102,423,962 (GRCm39)	L77P	possibly damaging	Het
Or51q1	T	C	7: 103,628,609 (GRCm39)	L76P	probably damaging	Het
Pfkfb2	A	T	1: 130,635,269 (GRCm39)	N97K	probably damaging	Het
Phlda1	A	T	10: 111,343,029 (GRCm39)	E255V	probably damaging	Het
Pla2g4f	T	C	2: 120,133,587 (GRCm39)	S579G	probably benign	Het
Plcz1	C	T	6: 139,947,807 (GRCm39)	R525Q	probably damaging	Het
Ppargc1b	G	A	18: 61,444,291 (GRCm39)	Q291*	probably null	Het
Ppef2	T	G	5: 92,376,581 (GRCm39)	S649R	probably damaging	Het
Ppp1r3b	A	G	8: 35,851,379 (GRCm39)	T73A	possibly damaging	Het
Prss43	G	C	9: 110,658,532 (GRCm39)	Q277H	probably damaging	Het
Rusc2	T	G	4: 43,415,935 (GRCm39)	S414A	probably damaging	Het
Serpina3j	G	A	12: 104,280,985 (GRCm39)	D53N	probably damaging	Het
Sez6l	A	G	5: 112,623,227 (GRCm39)	L108P	possibly damaging	Het
Slc1a7	A	G	4: 107,868,191 (GRCm39)	E497G	probably benign	Het
Spag8	T	A	4: 43,651,606 (GRCm39)	S423C	probably damaging	Het
Spata13	A	G	14: 60,944,172 (GRCm39)	T522A	probably benign	Het
Spryd3	A	G	15: 102,038,711 (GRCm39)		probably null	Het
Sry	T	A	Y: 2,663,339 (GRCm39)	N107I	probably damaging	Het
St6galnac1	A	G	11: 116,656,682 (GRCm39)	W486R	probably damaging	Het
Syt1	G	T	10: 108,340,275 (GRCm39)	P348T	possibly damaging	Het
Taok2	T	C	7: 126,470,030 (GRCm39)	I933V	possibly damaging	Het
Tex9	C	A	9: 72,385,040 (GRCm39)	Q265H	possibly damaging	Het
Tmem63a	G	A	1: 180,790,679 (GRCm39)	D446N	possibly damaging	Het
Trim59	T	C	3: 68,944,876 (GRCm39)	T155A	probably benign	Het
Tusc1	C	A	4: 93,223,173 (GRCm39)	R162L	probably damaging	Het
Ubash3a	A	T	17: 31,437,008 (GRCm39)	Q208H	probably damaging	Het
Ubn2	A	G	6: 38,475,674 (GRCm39)	T1211A	probably benign	Het
Vmn2r110	A	T	17: 20,794,209 (GRCm39)		probably null	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Zfyve28	C	T	5: 34,357,028 (GRCm39)	M723I	probably benign	Het
Zmynd8	A	T	2: 165,657,371 (GRCm39)	M533K	probably damaging	Het

Other mutations in Trim69

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00663:Trim69	APN	2	121,998,195 (GRCm39)	missense	probably benign	0.00
IGL01321:Trim69	APN	2	122,003,765 (GRCm39)	missense	possibly damaging	0.84
IGL01478:Trim69	APN	2	122,008,924 (GRCm39)	missense	probably damaging	0.98
IGL01907:Trim69	APN	2	121,998,142 (GRCm39)	missense	probably benign	0.00
IGL01925:Trim69	APN	2	121,998,397 (GRCm39)	missense	probably damaging	1.00
IGL03065:Trim69	APN	2	122,009,115 (GRCm39)	missense	probably damaging	0.98
IGL03121:Trim69	APN	2	121,998,128 (GRCm39)	missense	probably benign	0.22
IGL03206:Trim69	APN	2	122,003,636 (GRCm39)	missense	probably benign	0.00
R0019:Trim69	UTSW	2	122,004,958 (GRCm39)	splice site	probably null
R0019:Trim69	UTSW	2	122,004,958 (GRCm39)	splice site	probably null
R1956:Trim69	UTSW	2	122,004,956 (GRCm39)	critical splice donor site	probably null
R1960:Trim69	UTSW	2	121,998,165 (GRCm39)	missense	probably benign	0.00
R3412:Trim69	UTSW	2	122,009,125 (GRCm39)	missense	probably benign	0.05
R3414:Trim69	UTSW	2	122,009,125 (GRCm39)	missense	probably benign	0.05
R3900:Trim69	UTSW	2	122,009,322 (GRCm39)	missense	probably benign	0.03
R4470:Trim69	UTSW	2	122,009,080 (GRCm39)	missense	probably damaging	1.00
R4950:Trim69	UTSW	2	122,009,227 (GRCm39)	missense	probably damaging	1.00
R5045:Trim69	UTSW	2	122,004,727 (GRCm39)	missense	probably benign	0.08
R5237:Trim69	UTSW	2	122,003,821 (GRCm39)	missense	probably benign
R5931:Trim69	UTSW	2	122,009,075 (GRCm39)	missense	probably damaging	0.98
R6483:Trim69	UTSW	2	121,998,081 (GRCm39)	nonsense	probably null
R6872:Trim69	UTSW	2	121,998,391 (GRCm39)	missense	probably damaging	1.00
R7372:Trim69	UTSW	2	122,009,064 (GRCm39)	missense	possibly damaging	0.94
R7451:Trim69	UTSW	2	121,998,508 (GRCm39)	missense	probably benign	0.19
R7591:Trim69	UTSW	2	121,998,454 (GRCm39)	missense	probably benign	0.17
R8353:Trim69	UTSW	2	121,998,490 (GRCm39)	missense	possibly damaging	0.73
R8551:Trim69	UTSW	2	122,003,810 (GRCm39)	missense	probably benign	0.00
R9025:Trim69	UTSW	2	122,003,771 (GRCm39)	missense	probably benign	0.03
R9075:Trim69	UTSW	2	122,009,264 (GRCm39)	missense	probably benign	0.02
R9413:Trim69	UTSW	2	122,009,083 (GRCm39)	nonsense	probably null
Z1176:Trim69	UTSW	2	121,998,035 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATTTTCGTACCAGGCCCATC -3'
(R):5'- CGCCCTCATAATCCAGGTAC -3'

Sequencing Primer
(F):5'- TCCCAATCTGGTGTTATCCAAAAGC -3'
(R):5'- GGTACACGCCCACTCTTCTGAG -3'

Posted On

2014-10-15