Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01998:Triml1'

182956

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Triml1

Ensembl Gene

ENSMUSG00000031651

Gene Name

tripartite motif family-like 1

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

IGL01998

Quality Score

Status

Chromosome

Chromosomal Location

43582844-43594523 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43594350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 27 (D27G)

Ref Sequence

ENSEMBL: ENSMUSP00000050267 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059692]

AlphaFold

Q8BVP1

Predicted Effect

probably damaging
Transcript: ENSMUST00000059692
AA Change: D27G

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

SMART Domains

Protein: ENSMUSP00000050267
Gene: ENSMUSG00000031651
AA Change: D27G

Domain	Start	End	E-Value	Type
RING	22	62	1.14e-8	SMART
coiled coil region	196	235	N/A	INTRINSIC
PRY	291	343	4.64e-23	SMART
Pfam:SPRY	346	462	6.6e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211446

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211541

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a tripartite motif family protein with similarities to E3 ubiquitin-protein ligases. While the function of the encoded protein has not been determined, the orthologous protein in mouse has been shown to bind ubiquitin-specific protease 5 and is involved in the blastocyst development stage. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arpc3	T	C	5: 122,541,470 (GRCm39)	C78R	probably damaging	Het
Atp6v0b	A	G	4: 117,743,263 (GRCm39)		probably null	Het
B3gnt8	A	G	7: 25,328,203 (GRCm39)	Y211C	probably damaging	Het
Birc6	T	C	17: 74,886,880 (GRCm39)	I736T	probably benign	Het
Bltp1	T	C	3: 37,011,165 (GRCm39)	S1788P	possibly damaging	Het
Bpifb9a	T	C	2: 154,110,120 (GRCm39)		probably null	Het
C3ar1	A	T	6: 122,827,899 (GRCm39)	M106K	probably damaging	Het
C9orf72	A	T	4: 35,194,179 (GRCm39)	D205E	probably benign	Het
Cab39l	T	A	14: 59,734,344 (GRCm39)	L21Q	probably damaging	Het
Casp1	A	T	9: 5,303,043 (GRCm39)	I166F	probably damaging	Het
Cd180	A	G	13: 102,841,722 (GRCm39)	E256G	probably damaging	Het
Clca4a	T	C	3: 144,663,887 (GRCm39)	T519A	probably damaging	Het
Clstn3	A	T	6: 124,435,622 (GRCm39)	L233Q	probably damaging	Het
Crlf3	G	A	11: 79,948,845 (GRCm39)		probably benign	Het
Depdc5	T	C	5: 33,102,495 (GRCm39)		probably benign	Het
Drc7	T	A	8: 95,785,821 (GRCm39)	C226S	probably damaging	Het
Epha5	T	A	5: 84,232,593 (GRCm39)	D807V	probably damaging	Het
Fat2	A	G	11: 55,187,021 (GRCm39)	L1275P	probably benign	Het
Fv1	T	C	4: 147,953,784 (GRCm39)	C117R	possibly damaging	Het
Ighg2b	C	A	12: 113,270,709 (GRCm39)	M140I	unknown	Het
Klra5	A	T	6: 129,883,676 (GRCm39)	Y60*	probably null	Het
Lmtk2	C	T	5: 144,112,883 (GRCm39)	T1201I	probably damaging	Het
Ncapd2	A	T	6: 125,150,078 (GRCm39)	S917T	probably benign	Het
Ncapd2	A	T	6: 125,146,896 (GRCm39)	L1230H	probably damaging	Het
Nfx1	T	A	4: 41,004,353 (GRCm39)	I708N	probably damaging	Het
Notch2	A	T	3: 98,050,422 (GRCm39)	D1899V	probably damaging	Het
Npepl1	T	A	2: 173,957,993 (GRCm39)		probably benign	Het
Nps	T	A	7: 134,870,481 (GRCm39)		probably benign	Het
Nrg1	T	C	8: 32,408,162 (GRCm39)	S24G	probably damaging	Het
Or1j20	A	G	2: 36,759,658 (GRCm39)	N27D	probably benign	Het
Or2ag16	G	A	7: 106,351,758 (GRCm39)	T279M	possibly damaging	Het
Or2t48	A	T	11: 58,420,403 (GRCm39)	Y136*	probably null	Het
Or4k2	C	A	14: 50,424,105 (GRCm39)	V190L	probably benign	Het
Pigx	G	T	16: 31,903,428 (GRCm39)	T211K	probably benign	Het
Pink1	A	G	4: 138,048,053 (GRCm39)	I223T	probably damaging	Het
Plat	G	A	8: 23,257,163 (GRCm39)	A15T	probably benign	Het
Ptges2	G	A	2: 32,291,542 (GRCm39)	A310T	possibly damaging	Het
Rsl1d1	A	G	16: 11,012,509 (GRCm39)	S306P	possibly damaging	Het
Rxfp1	T	C	3: 79,567,403 (GRCm39)	K316E	probably benign	Het
Scn10a	A	G	9: 119,438,742 (GRCm39)	I1708T	probably damaging	Het
Sdk2	A	T	11: 113,729,358 (GRCm39)	F1073Y	probably damaging	Het
Sp100	A	G	1: 85,594,650 (GRCm39)	D170G	probably benign	Het
Spock1	A	T	13: 57,583,994 (GRCm39)		probably benign	Het
Strbp	A	G	2: 37,515,297 (GRCm39)	L243P	probably damaging	Het
Tex55	A	T	16: 38,648,586 (GRCm39)	D174E	probably benign	Het
Tgm5	T	A	2: 120,882,920 (GRCm39)	T446S	probably damaging	Het
Tmem59l	C	T	8: 70,937,431 (GRCm39)	V239I	probably benign	Het
Trav8-1	A	T	14: 53,707,662 (GRCm39)	T101S	probably benign	Het
Vmn2r54	T	C	7: 12,349,227 (GRCm39)	E785G	probably benign	Het
Vps13c	A	G	9: 67,862,350 (GRCm39)		probably null	Het
Wwp2	C	T	8: 108,276,153 (GRCm39)	R64C	probably damaging	Het
Zfp608	T	C	18: 55,024,890 (GRCm39)	H1460R	probably damaging	Het

Other mutations in Triml1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00768:Triml1	APN	8	43,593,998 (GRCm39)	splice site	probably benign
IGL00920:Triml1	APN	8	43,591,719 (GRCm39)	missense	probably damaging	1.00
IGL01319:Triml1	APN	8	43,594,434 (GRCm39)	utr 5 prime	probably benign
IGL01323:Triml1	APN	8	43,591,600 (GRCm39)	splice site	probably null
IGL02394:Triml1	APN	8	43,591,629 (GRCm39)	missense	possibly damaging	0.57
R0359:Triml1	UTSW	8	43,583,542 (GRCm39)	missense	probably damaging	1.00
R0400:Triml1	UTSW	8	43,594,077 (GRCm39)	missense	probably benign	0.03
R1799:Triml1	UTSW	8	43,583,512 (GRCm39)	missense	probably damaging	1.00
R2008:Triml1	UTSW	8	43,583,642 (GRCm39)	missense	probably damaging	0.97
R2363:Triml1	UTSW	8	43,594,408 (GRCm39)	missense	probably damaging	0.99
R2405:Triml1	UTSW	8	43,583,320 (GRCm39)	missense	probably damaging	1.00
R5333:Triml1	UTSW	8	43,583,327 (GRCm39)	missense	possibly damaging	0.82
R6093:Triml1	UTSW	8	43,593,755 (GRCm39)	missense	probably benign	0.04
R6244:Triml1	UTSW	8	43,591,793 (GRCm39)	nonsense	probably null
R6808:Triml1	UTSW	8	43,594,258 (GRCm39)	missense	probably damaging	0.99
R6860:Triml1	UTSW	8	43,583,603 (GRCm39)	missense	probably damaging	1.00
R7231:Triml1	UTSW	8	43,589,408 (GRCm39)	missense	probably benign
R7826:Triml1	UTSW	8	43,591,803 (GRCm39)	missense	possibly damaging	0.95
R8054:Triml1	UTSW	8	43,583,420 (GRCm39)	missense	probably damaging	0.99
R8100:Triml1	UTSW	8	43,591,717 (GRCm39)	missense	probably benign
R8234:Triml1	UTSW	8	43,594,285 (GRCm39)	missense	probably benign	0.25
R9135:Triml1	UTSW	8	43,583,624 (GRCm39)	missense	probably damaging	1.00
Z1088:Triml1	UTSW	8	43,583,435 (GRCm39)	missense	probably damaging	1.00
Z1177:Triml1	UTSW	8	43,593,742 (GRCm39)	missense	possibly damaging	0.73

Posted On

2014-05-07