Mutagenetix > Incidental Mutation

Incidental Mutation 'R9075:Trim69'

689717

Institutional Source

Beutler Lab

Gene Symbol

Trim69

Ensembl Gene

ENSMUSG00000033368

Gene Name

tripartite motif-containing 69

Synonyms

Rnf36, Trif, 4921519C19Rik

MMRRC Submission

068896-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R9075 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121991189-122009503 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122009264 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 441 (R441S)

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: R441S

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000047627
Gene: ENSMUSG00000033368
AA Change: R441S

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (50/50)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	G	1: 120,097,014 (GRCm39)	S137A		Het
Actl6a	G	T	3: 32,769,641 (GRCm39)	C152F	possibly damaging	Het
Adam26b	A	T	8: 43,973,405 (GRCm39)	D532E	probably benign	Het
Adamts6	A	G	13: 104,598,793 (GRCm39)	N878S	probably benign	Het
Ap1b1	T	C	11: 4,975,597 (GRCm39)	S387P	possibly damaging	Het
Cdh23	A	G	10: 60,153,541 (GRCm39)	S2350P	probably damaging	Het
Cdh4	A	G	2: 179,501,940 (GRCm39)	D300G	probably damaging	Het
Cngb1	T	C	8: 95,979,993 (GRCm39)	Y969C	probably damaging	Het
Cog8	C	T	8: 107,779,208 (GRCm39)	M356I	probably damaging	Het
Fam168a	T	A	7: 100,484,582 (GRCm39)	V224D	probably damaging	Het
Fam210a	C	T	18: 68,405,693 (GRCm39)	V177M	probably damaging	Het
Flnc	A	T	6: 29,447,646 (GRCm39)	I1150F	probably damaging	Het
Frmd4a	G	T	2: 4,608,765 (GRCm39)	G878W	probably damaging	Het
Gm11555	C	T	11: 99,540,694 (GRCm39)	C95Y		Het
Gns	A	G	10: 121,226,542 (GRCm39)	N397S	probably benign	Het
Grin2b	CA	C	6: 135,709,509 (GRCm39)		probably null	Het
Ifi204	T	A	1: 173,589,282 (GRCm39)	N50Y	possibly damaging	Het
Iqub	T	A	6: 24,446,124 (GRCm39)	I767F	probably damaging	Het
Lama2	A	T	10: 26,857,588 (GRCm39)	L3087Q	probably damaging	Het
Mars2	A	G	1: 55,278,154 (GRCm39)	T586A	probably damaging	Het
Mrps28	G	T	3: 8,867,312 (GRCm39)	S185R	probably benign	Het
Nphp4	T	C	4: 152,591,905 (GRCm39)	Y363H	probably damaging	Het
Nploc4	T	C	11: 120,304,526 (GRCm39)	T232A	possibly damaging	Het
Pate3	A	G	9: 35,557,893 (GRCm39)		probably null	Het
Pcdh18	G	A	3: 49,699,339 (GRCm39)	A1041V	probably benign	Het
Plpp5	T	A	8: 26,210,379 (GRCm39)	Y50N	probably benign	Het
Ppp4r4	G	T	12: 103,570,290 (GRCm39)	G755*	probably null	Het
Psmd14	T	A	2: 61,607,021 (GRCm39)	V156D	probably damaging	Het
Ptch1	G	A	13: 63,681,335 (GRCm39)	R651C	possibly damaging	Het
Rai14	T	C	15: 10,589,403 (GRCm39)	E265G	probably damaging	Het
Rbmx	G	A	X: 56,432,717 (GRCm39)	P301L	probably benign	Het
Rimbp2	T	A	5: 128,851,312 (GRCm39)	D878V	probably damaging	Het
Sarm1	T	C	11: 78,374,023 (GRCm39)	K668R	probably benign	Het
Slc10a2	C	A	8: 5,155,267 (GRCm39)		probably benign	Het
Slc15a3	T	C	19: 10,826,094 (GRCm39)	S262P	probably damaging	Het
Slf2	T	C	19: 44,930,860 (GRCm39)	Y646H	probably damaging	Het
Smpd4	C	T	16: 17,457,849 (GRCm39)	P406S	unknown	Het
Sv2b	A	G	7: 74,789,845 (GRCm39)	V396A	possibly damaging	Het
Swt1	A	G	1: 151,246,245 (GRCm39)		probably benign	Het
Sympk	A	G	7: 18,776,563 (GRCm39)	E485G	probably benign	Het
Tbc1d9	T	C	8: 83,982,501 (GRCm39)	V762A	probably benign	Het
Thbs2	T	A	17: 14,900,587 (GRCm39)	H540L	probably benign	Het
Tie1	C	A	4: 118,341,356 (GRCm39)	G275V	possibly damaging	Het
Tmprss15	T	C	16: 78,754,259 (GRCm39)	Y998C	probably damaging	Het
Trappc10	A	T	10: 78,040,130 (GRCm39)	V607E	possibly damaging	Het
Trio	G	T	15: 27,774,022 (GRCm39)	S1814*	probably null	Het
Vmn1r192	C	T	13: 22,371,333 (GRCm39)	V296I	probably benign	Het
Vmn1r223	A	G	13: 23,433,600 (GRCm39)	S65G	possibly damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r41	A	G	7: 8,141,250 (GRCm39)	V738A	probably benign	Het
Zfp408	A	G	2: 91,476,065 (GRCm39)	V363A	possibly damaging	Het
Zfp583	A	T	7: 6,319,870 (GRCm39)	C381S	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
R2212:Trim69	UTSW	2	122,009,125 (GRCm39)	missense	probably benign	0.05
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
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'- GCTGTACTGGGCTCAAAAGG -3'
(R):5'- TGTGGATGTACGATGTGCAACG -3'

Sequencing Primer
(F):5'- GGCTTCACCTCTGGAAAATGGTAC -3'
(R):5'- ACGATGTGCAACGGTTCTTTATTC -3'

Posted On

2021-11-19