Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03065:Trim69'

409646

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trim69

Ensembl Gene

ENSMUSG00000033368

Gene Name

tripartite motif-containing 69

Synonyms

Rnf36, Trif, 4921519C19Rik

Accession Numbers

Essential gene?

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

Stock #

IGL03065

Quality Score

Status

Chromosome

Chromosomal Location

121991189-122009503 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122009115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 392 (T392A)

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: T392A

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000047627
Gene: ENSMUSG00000033368
AA Change: T392A

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

Coding Region Coverage

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	A	G	8: 84,665,143 (GRCm39)	M1322V	possibly damaging	Het
Adprh	C	T	16: 38,266,396 (GRCm39)	V249I	probably benign	Het
Afg2a	T	C	3: 37,486,328 (GRCm39)	V350A	possibly damaging	Het
Als2	T	C	1: 59,255,031 (GRCm39)	S109G	probably benign	Het
Bpifa1	T	A	2: 153,989,562 (GRCm39)	N250K	probably damaging	Het
Capn9	A	C	8: 125,332,298 (GRCm39)	Y423S	probably damaging	Het
Cd200r1	T	G	16: 44,614,645 (GRCm39)	V308G	probably benign	Het
Cic	T	C	7: 24,985,246 (GRCm39)		probably benign	Het
Col5a1	T	A	2: 27,922,757 (GRCm39)	I275N	possibly damaging	Het
Col6a4	C	A	9: 105,918,363 (GRCm39)		probably benign	Het
Cpeb1	T	C	7: 81,086,038 (GRCm39)	R35G	probably benign	Het
Cul1	A	G	6: 47,472,015 (GRCm39)	Y52C	probably damaging	Het
Dctn1	T	C	6: 83,169,475 (GRCm39)	F496L	probably damaging	Het
Dock11	G	T	X: 35,310,699 (GRCm39)		probably benign	Het
Eaf2	C	T	16: 36,648,484 (GRCm39)	R12H	probably benign	Het
Gcc1	T	A	6: 28,418,401 (GRCm39)	Q644L	possibly damaging	Het
Gm44865	C	T	7: 108,165,004 (GRCm39)		probably benign	Het
Golgb1	C	T	16: 36,733,228 (GRCm39)	S825L	probably benign	Het
Gstp3	C	T	19: 4,108,730 (GRCm39)		probably null	Het
Heph	T	A	X: 95,571,173 (GRCm39)	I669N	probably benign	Het
Il12rb1	A	T	8: 71,273,202 (GRCm39)	Y635F	possibly damaging	Het
Ing3	G	A	6: 21,971,221 (GRCm39)	A331T	probably benign	Het
Ipo8	T	A	6: 148,686,205 (GRCm39)	I762F	probably benign	Het
Itpr3	G	A	17: 27,310,907 (GRCm39)	R510Q	probably damaging	Het
Kif16b	A	G	2: 142,461,833 (GRCm39)	Y1273H	probably damaging	Het
Map3k14	T	C	11: 103,115,927 (GRCm39)	E784G	probably damaging	Het
Mpdz	A	T	4: 81,210,802 (GRCm39)	N1694K	probably damaging	Het
Myh13	T	C	11: 67,235,679 (GRCm39)	F648S	probably damaging	Het
Myh4	A	G	11: 67,149,982 (GRCm39)	H1847R	probably benign	Het
Ncoa7	T	A	10: 30,523,993 (GRCm39)	D840V	probably damaging	Het
Nxpe2	T	A	9: 48,230,992 (GRCm39)	N459I	possibly damaging	Het
Or4d10c	C	A	19: 12,065,975 (GRCm39)	L60F	possibly damaging	Het
Or4k2	C	A	14: 50,424,465 (GRCm39)	D70Y	probably damaging	Het
Or4k47	T	C	2: 111,451,535 (GRCm39)	K295E	probably damaging	Het
Ovgp1	T	C	3: 105,893,682 (GRCm39)	F485S	probably benign	Het
Parp4	G	T	14: 56,875,326 (GRCm39)	A1182S	probably benign	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Pla2g15	G	A	8: 106,886,851 (GRCm39)	R114H	probably benign	Het
Plppr3	T	A	10: 79,701,880 (GRCm39)	T321S	probably benign	Het
Rnf113a1	A	G	X: 36,455,748 (GRCm39)	D235G	probably benign	Het
Rsrp1	A	G	4: 134,651,700 (GRCm39)	T155A	possibly damaging	Het
Simc1	G	T	13: 54,685,025 (GRCm39)	C87F	probably damaging	Het
Slco1a5	A	G	6: 142,194,569 (GRCm39)		probably benign	Het
Slco1a8	C	A	6: 141,938,228 (GRCm39)	L230F	probably damaging	Het
Smyd5	A	G	6: 85,419,146 (GRCm39)	D276G	possibly damaging	Het
Tmem132c	A	G	5: 127,640,688 (GRCm39)	Y953C	probably damaging	Het
Trank1	T	A	9: 111,219,361 (GRCm39)	S2033T	possibly damaging	Het
Tsks	T	C	7: 44,592,724 (GRCm39)	V6A	probably damaging	Het
Yjefn3	A	G	8: 70,342,206 (GRCm39)		probably benign	Het
Zfp263	T	G	16: 3,564,344 (GRCm39)	D211E	probably benign	Het
Zfp994	A	T	17: 22,421,661 (GRCm39)	F51L	probably damaging	Het
Znfx1	A	T	2: 166,897,685 (GRCm39)	M413K	probably benign	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
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
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

Posted On

2016-08-02