Mutagenetix > Incidental Mutation

Incidental Mutation 'R6872:Trim69'

536188

Institutional Source

Beutler Lab

Gene Symbol

Trim69

Ensembl Gene

ENSMUSG00000033368

Gene Name

tripartite motif-containing 69

Synonyms

Rnf36, Trif, 4921519C19Rik

MMRRC Submission

044969-MU

Accession Numbers

Essential gene?

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

Stock #

R6872 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121991189-122009503 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121998391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 121 (E121G)

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 damaging
Transcript: ENSMUST00000036089
AA Change: E121G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047627
Gene: ENSMUSG00000033368
AA Change: E121G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	G	A	4: 144,349,750 (GRCm39)	V336I	probably benign	Het
Aadacl4fm4	A	T	4: 144,397,216 (GRCm39)	L172*	probably null	Het
Abcg3	T	C	5: 105,083,860 (GRCm39)	T637A	probably benign	Het
Ap3d1	G	A	10: 80,550,156 (GRCm39)	R692*	probably null	Het
Aqp2	C	T	15: 99,481,885 (GRCm39)	H260Y	probably benign	Het
Btbd2	C	A	10: 80,480,166 (GRCm39)	R383L	probably damaging	Het
Ccdc196	T	A	12: 78,244,141 (GRCm39)	D31E	probably damaging	Het
Ccdc24	T	C	4: 117,727,123 (GRCm39)	T196A	probably benign	Het
Cdc20b	G	A	13: 113,220,509 (GRCm39)	G463S	probably damaging	Het
Ceacam5	A	T	7: 17,486,212 (GRCm39)	R570*	probably null	Het
Col12a1	A	T	9: 79,584,516 (GRCm39)	N1357K	probably damaging	Het
Cpa5	A	T	6: 30,614,053 (GRCm39)	Q65L	probably benign	Het
Ddo	A	C	10: 40,513,414 (GRCm39)	M119L	possibly damaging	Het
Dnah8	G	T	17: 30,981,653 (GRCm39)	L3058F	probably damaging	Het
Dnajb8	A	G	6: 88,200,022 (GRCm39)	N186S	probably damaging	Het
Dock4	T	C	12: 40,862,325 (GRCm39)		probably null	Het
Ear6	A	G	14: 52,091,885 (GRCm39)	Y144C	probably damaging	Het
Eng	T	A	2: 32,563,287 (GRCm39)	I281N	probably damaging	Het
Fgf2	A	G	3: 37,458,860 (GRCm39)	K85E	probably damaging	Het
Fubp1	A	T	3: 151,931,783 (GRCm39)	Q37L	probably benign	Het
Gabra2	G	T	5: 71,251,882 (GRCm39)	P22T	probably damaging	Het
Gm10401	T	C	5: 115,236,245 (GRCm39)		probably benign	Het
Gsdmc	T	C	15: 63,650,556 (GRCm39)	D275G	possibly damaging	Het
Iglv3	A	G	16: 19,060,034 (GRCm39)	I98T	probably damaging	Het
Lmod1	G	T	1: 135,292,879 (GRCm39)	R578L	probably damaging	Het
Mindy2	A	G	9: 70,524,044 (GRCm39)		probably null	Het
Neb	G	T	2: 52,183,657 (GRCm39)	Q1004K	probably damaging	Het
Nkx2-9	T	G	12: 56,658,674 (GRCm39)	N180T	probably benign	Het
Nlrp2	C	T	7: 5,311,709 (GRCm39)	R922H	probably benign	Het
Nol4l	T	C	2: 153,325,737 (GRCm39)	E116G	probably damaging	Het
Or1af1	A	T	2: 37,109,989 (GRCm39)	M163L	possibly damaging	Het
Or5ac19	A	G	16: 59,089,961 (GRCm39)	L23P	probably benign	Het
Pcdhb20	A	C	18: 37,639,218 (GRCm39)	E581D	probably benign	Het
Pidd1	G	T	7: 141,019,331 (GRCm39)	T750K	probably benign	Het
Rab44	A	G	17: 29,358,784 (GRCm39)	E324G	probably benign	Het
Ramp3	T	C	11: 6,624,768 (GRCm39)	C21R	possibly damaging	Het
Rpap1	A	C	2: 119,605,850 (GRCm39)	M345R	probably damaging	Het
Serpina3k	A	C	12: 104,310,519 (GRCm39)	K350Q	probably benign	Het
St13	C	T	15: 81,250,547 (GRCm39)		probably null	Het
Stard9	A	T	2: 120,544,549 (GRCm39)	K4497*	probably null	Het
Tbx19	A	T	1: 164,975,202 (GRCm39)		probably null	Het
Tgoln1	A	G	6: 72,592,538 (GRCm39)	V314A	possibly damaging	Het
Them4	A	T	3: 94,231,678 (GRCm39)	I172F	probably damaging	Het
Tmc7	T	A	7: 118,146,846 (GRCm39)	Y477F	probably benign	Het
Tmem132a	A	G	19: 10,840,669 (GRCm39)	L421P	probably damaging	Het
Vmn2r11	T	G	5: 109,194,976 (GRCm39)	R783S	possibly damaging	Het
Vmn2r62	T	A	7: 42,438,412 (GRCm39)	L141F	probably benign	Het
Zbtb7a	A	G	10: 80,983,905 (GRCm39)	N449S	possibly damaging	Het
Zfhx3	C	T	8: 109,527,273 (GRCm39)	R1057W	probably damaging	Het
Zfp180	G	T	7: 23,805,306 (GRCm39)	C575F	probably damaging	Het
Zfp462	G	A	4: 55,012,326 (GRCm39)	A1431T	probably benign	Het
Zfp592	T	C	7: 80,673,576 (GRCm39)	V180A	probably benign	Het
Zfp605	C	T	5: 110,275,311 (GRCm39)	P143L	probably benign	Het
Zfp646	T	C	7: 127,482,505 (GRCm39)	S1561P	probably benign	Het
Zfp706	T	C	15: 37,002,190 (GRCm39)	T46A	possibly 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
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'- TAACGACTGGTTCCGTGATCC -3'
(R):5'- GGCCCTCCAAAAGAATTTTCC -3'

Sequencing Primer
(F):5'- TGATCCGCTGATGCTGAC -3'
(R):5'- CTAAGGGATTTCTCAAGGCCCAG -3'

Posted On

2018-10-18