Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01323:Triml1'

74149

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: 0.136) question?

Stock #

IGL01323

Quality Score

Status

Chromosome

Chromosomal Location

43129807-43141486 bp(-) (GRCm38)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to C at 43138563 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000050267 (fasta)

Gene Model

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

AlphaFold

Q8BVP1

Predicted Effect

probably null
Transcript: ENSMUST00000059692

SMART Domains

Protein: ENSMUSP00000050267
Gene: ENSMUSG00000031651

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef2	A	G	2: 166,871,495 (GRCm38)	D1272G	probably damaging	Het
Ascl2	A	G	7: 142,968,388 (GRCm38)	S108P	probably benign	Het
B3gat1	T	C	9: 26,755,910 (GRCm38)	V146A	possibly damaging	Het
Barhl1	C	T	2: 28,915,546 (GRCm38)	S45N	probably benign	Het
Birc6	C	T	17: 74,622,925 (GRCm38)	A2370V	probably damaging	Het
C1qtnf7	A	G	5: 43,609,260 (GRCm38)	D67G	possibly damaging	Het
Cand2	A	G	6: 115,785,125 (GRCm38)	T171A	probably benign	Het
Ccdc77	T	C	6: 120,334,796 (GRCm38)	Q247R	probably benign	Het
Cenpp	A	T	13: 49,647,642 (GRCm38)	V100D	probably damaging	Het
Cep135	A	G	5: 76,591,765 (GRCm38)	T3A	probably benign	Het
Eef2k	T	C	7: 120,884,815 (GRCm38)		probably benign	Het
Fga	T	C	3: 83,030,211 (GRCm38)	S132P	probably damaging	Het
Gpr6	T	A	10: 41,071,559 (GRCm38)	N9I	possibly damaging	Het
Gvin2	A	G	7: 105,896,802 (GRCm38)	S2348P	possibly damaging	Het
Hacd3	A	G	9: 64,998,305 (GRCm38)	F184L	probably damaging	Het
Heatr1	T	C	13: 12,398,938 (GRCm38)	I132T	possibly damaging	Het
Igfbp7	A	G	5: 77,352,037 (GRCm38)		probably benign	Het
Ighv8-6	T	C	12: 115,165,857 (GRCm38)	D93G	possibly damaging	Het
Izumo3	A	G	4: 92,146,390 (GRCm38)		probably benign	Het
Jade2	T	C	11: 51,825,338 (GRCm38)	T347A	possibly damaging	Het
Kif18a	A	G	2: 109,298,442 (GRCm38)	T419A	probably benign	Het
Krt34	A	G	11: 100,038,780 (GRCm38)	S267P	possibly damaging	Het
Krt4	T	G	15: 101,920,281 (GRCm38)	K383Q	probably damaging	Het
Lgals7	G	T	7: 28,865,564 (GRCm38)	E42D	probably benign	Het
Morc2b	A	G	17: 33,137,319 (GRCm38)	V493A	possibly damaging	Het
Mtif2	T	A	11: 29,541,447 (GRCm38)	S557R	probably damaging	Het
Nup43	T	A	10: 7,669,556 (GRCm38)	F83I	probably benign	Het
Oosp2	A	G	19: 11,647,461 (GRCm38)	L155S	probably damaging	Het
Or1o1	G	T	17: 37,406,140 (GRCm38)	M197I	probably benign	Het
Plxnd1	T	A	6: 115,966,799 (GRCm38)	T1180S	possibly damaging	Het
Prpf39	T	A	12: 65,042,724 (GRCm38)	F79I	possibly damaging	Het
Prph	G	A	15: 99,058,636 (GRCm38)	S465N	possibly damaging	Het
Purg	A	T	8: 33,386,603 (GRCm38)	I90L	probably damaging	Het
Pxdn	C	A	12: 29,987,137 (GRCm38)	Q305K	probably benign	Het
R3hdm1	G	A	1: 128,216,543 (GRCm38)	S816N	probably benign	Het
Src	G	A	2: 157,469,503 (GRCm38)	G461R	probably damaging	Het
Tmem201	G	A	4: 149,719,588 (GRCm38)		probably benign	Het
Tnfrsf22	G	A	7: 143,643,374 (GRCm38)	P76L	probably damaging	Het
Upp1	A	G	11: 9,136,100 (GRCm38)	*312W	probably null	Het
Wdfy3	G	T	5: 101,895,064 (GRCm38)	S1940R	probably damaging	Het
Xpc	T	C	6: 91,492,353 (GRCm38)	Y804C	probably damaging	Het
Xrn2	C	T	2: 147,034,847 (GRCm38)		probably benign	Het
Zfp106	A	T	2: 120,524,464 (GRCm38)	D1275E	possibly damaging	Het

Other mutations in Triml1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00768:Triml1	APN	8	43,140,961 (GRCm38)	splice site	probably benign
IGL00920:Triml1	APN	8	43,138,682 (GRCm38)	missense	probably damaging	1.00
IGL01319:Triml1	APN	8	43,141,397 (GRCm38)	utr 5 prime	probably benign
IGL01998:Triml1	APN	8	43,141,313 (GRCm38)	missense	probably damaging	1.00
IGL02394:Triml1	APN	8	43,138,592 (GRCm38)	missense	possibly damaging	0.57
R0359:Triml1	UTSW	8	43,130,505 (GRCm38)	missense	probably damaging	1.00
R0400:Triml1	UTSW	8	43,141,040 (GRCm38)	missense	probably benign	0.03
R1799:Triml1	UTSW	8	43,130,475 (GRCm38)	missense	probably damaging	1.00
R2008:Triml1	UTSW	8	43,130,605 (GRCm38)	missense	probably damaging	0.97
R2363:Triml1	UTSW	8	43,141,371 (GRCm38)	missense	probably damaging	0.99
R2405:Triml1	UTSW	8	43,130,283 (GRCm38)	missense	probably damaging	1.00
R5333:Triml1	UTSW	8	43,130,290 (GRCm38)	missense	possibly damaging	0.82
R6093:Triml1	UTSW	8	43,140,718 (GRCm38)	missense	probably benign	0.04
R6244:Triml1	UTSW	8	43,138,756 (GRCm38)	nonsense	probably null
R6808:Triml1	UTSW	8	43,141,221 (GRCm38)	missense	probably damaging	0.99
R6860:Triml1	UTSW	8	43,130,566 (GRCm38)	missense	probably damaging	1.00
R7231:Triml1	UTSW	8	43,136,371 (GRCm38)	missense	probably benign
R7826:Triml1	UTSW	8	43,138,766 (GRCm38)	missense	possibly damaging	0.95
R8054:Triml1	UTSW	8	43,130,383 (GRCm38)	missense	probably damaging	0.99
R8100:Triml1	UTSW	8	43,138,680 (GRCm38)	missense	probably benign
R8234:Triml1	UTSW	8	43,141,248 (GRCm38)	missense	probably benign	0.25
R9135:Triml1	UTSW	8	43,130,587 (GRCm38)	missense	probably damaging	1.00
Z1088:Triml1	UTSW	8	43,130,398 (GRCm38)	missense	probably damaging	1.00
Z1177:Triml1	UTSW	8	43,140,705 (GRCm38)	missense	possibly damaging	0.73

Posted On

2013-10-07