Mutagenetix > Incidental Mutation

Incidental Mutation 'R2405:Triml1'

247958

Institutional Source

Beutler Lab

Gene Symbol

Triml1

Ensembl Gene

ENSMUSG00000031651

Gene Name

tripartite motif family-like 1

Synonyms

MMRRC Submission

040371-MU

Accession Numbers

Essential gene?

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

Stock #

R2405 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43582844-43594523 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43583320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 427 (Y427C)

Ref Sequence

ENSEMBL: ENSMUSP00000050267 (fasta)

Gene Model

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

AlphaFold

Q8BVP1

Predicted Effect

probably damaging
Transcript: ENSMUST00000059692
AA Change: Y427C

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

SMART Domains

Protein: ENSMUSP00000050267
Gene: ENSMUSG00000031651
AA Change: Y427C

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

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.0%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Abl1	T	C	2: 31,690,986 (GRCm39)	L835P	possibly damaging	Het
Ascc3	T	A	10: 50,607,774 (GRCm39)	V1426D	probably damaging	Het
Ccny	A	G	18: 9,353,480 (GRCm39)	Y98H	probably benign	Het
Ccser2	G	A	14: 36,660,626 (GRCm39)	T509M	probably damaging	Het
Crnkl1	A	T	2: 145,770,077 (GRCm39)	Y255*	probably null	Het
Cyp2d11	C	T	15: 82,273,467 (GRCm39)	S468N	possibly damaging	Het
Dnah7b	C	A	1: 46,402,114 (GRCm39)	T3983N	probably benign	Het
Ebf1	T	A	11: 44,882,349 (GRCm39)	M427K	probably damaging	Het
Fxr1	T	A	3: 34,116,003 (GRCm39)	S438T	probably damaging	Het
Gabrr1	A	T	4: 33,157,110 (GRCm39)	D209V	probably damaging	Het
Gbx2	G	T	1: 89,858,630 (GRCm39)		probably benign	Het
Gng14	A	G	8: 85,794,270 (GRCm39)	I56T	possibly damaging	Het
Gulo	A	G	14: 66,228,477 (GRCm39)		probably null	Het
Hhla1	A	T	15: 65,808,160 (GRCm39)	L295*	probably null	Het
Hmcn1	T	A	1: 150,736,092 (GRCm39)	I126L	probably damaging	Het
Hpse	A	G	5: 100,856,637 (GRCm39)	S121P	possibly damaging	Het
Inpp5d	A	G	1: 87,627,451 (GRCm39)	H321R	possibly damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kdm5b	T	A	1: 134,536,754 (GRCm39)	M658K	probably damaging	Het
Kidins220	A	T	12: 25,061,508 (GRCm39)	E875V	probably damaging	Het
Lrrc37	T	C	11: 103,511,810 (GRCm39)	M53V	unknown	Het
Nlrp4b	A	G	7: 10,448,655 (GRCm39)	E286G	probably benign	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Pde3a	A	T	6: 141,426,968 (GRCm39)	I710F	probably damaging	Het
Phb1	T	C	11: 95,566,094 (GRCm39)	I126T	probably benign	Het
Ppp4r1	C	T	17: 66,118,341 (GRCm39)	T164I	possibly damaging	Het
Psmc1	G	A	12: 100,086,362 (GRCm39)	R333Q	probably benign	Het
Pygb	A	G	2: 150,662,695 (GRCm39)	Y554C	probably benign	Het
Ror2	G	A	13: 53,284,980 (GRCm39)	P144L	possibly damaging	Het
Serpina3a	A	T	12: 104,087,577 (GRCm39)	M357L	possibly damaging	Het
Serpinb9e	T	A	13: 33,444,063 (GRCm39)	M361K	probably benign	Het
Sgms1	G	A	19: 32,137,072 (GRCm39)	R165*	probably null	Het
Slc15a2	G	A	16: 36,572,199 (GRCm39)	Q691*	probably null	Het
Slc25a25	C	T	2: 32,307,731 (GRCm39)		probably null	Het
Slc34a2	A	G	5: 53,215,523 (GRCm39)	N9S	probably benign	Het
Slc4a2	A	G	5: 24,640,599 (GRCm39)	T665A	probably damaging	Het
Spef2	C	A	15: 9,626,120 (GRCm39)	E1149*	probably null	Het
Tmem179	A	G	12: 112,468,347 (GRCm39)	W45R	probably damaging	Het
Tmpo	C	A	10: 90,999,216 (GRCm39)	K190N	probably damaging	Het
Trpm2	A	G	10: 77,770,558 (GRCm39)	L720P	probably damaging	Het
Vmn1r60	A	G	7: 5,547,912 (GRCm39)	Y63H	probably benign	Het
Vmn2r96	T	A	17: 18,818,102 (GRCm39)	C560S	probably damaging	Het
Vps35l	G	C	7: 118,391,818 (GRCm39)	A410P	probably damaging	Het
Zdhhc13	A	G	7: 48,472,478 (GRCm39)		probably null	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
IGL01998:Triml1	APN	8	43,594,350 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGGCCTTGTCTTTGCTCAAG -3'
(R):5'- AGCTCAGATCTTCACCTGCG -3'

Sequencing Primer
(F):5'- TCTTTGCTCAAGGCTCAGGGC -3'
(R):5'- TCTGCAAGGACTCTGTGAAC -3'

Posted On

2014-11-11