Mutagenetix > Incidental Mutation

Incidental Mutation 'R6093:Triml1'

486045

Institutional Source

Beutler Lab

Gene Symbol

Triml1

Ensembl Gene

ENSMUSG00000031651

Gene Name

tripartite motif family-like 1

Synonyms

MMRRC Submission

044250-MU

Accession Numbers

Essential gene?

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

Stock #

R6093 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43582844-43594523 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43593755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 149 (I149M)

Ref Sequence

ENSEMBL: ENSMUSP00000050267 (fasta)

Gene Model

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

AlphaFold

Q8BVP1

Predicted Effect

probably benign
Transcript: ENSMUST00000059692
AA Change: I149M

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000050267
Gene: ENSMUSG00000031651
AA Change: I149M

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: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,490,214 (GRCm39)		probably benign	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Adgrl3	A	C	5: 81,794,369 (GRCm39)	R531S	probably benign	Het
Ahctf1	T	C	1: 179,590,517 (GRCm39)	D1252G	probably benign	Het
Ano1	T	C	7: 144,165,114 (GRCm39)	N648S	possibly damaging	Het
Antxr2	C	A	5: 98,178,319 (GRCm39)	L30F	probably damaging	Het
Apol9a	T	A	15: 77,288,620 (GRCm39)	N249I	probably benign	Het
Atp2a1	A	G	7: 126,046,093 (GRCm39)	V977A	probably damaging	Het
Clmn	T	C	12: 104,738,215 (GRCm39)	T968A	probably benign	Het
Clstn2	A	T	9: 97,340,263 (GRCm39)	I703N	probably damaging	Het
Cnot1	T	C	8: 96,475,522 (GRCm39)	T1051A	probably benign	Het
Csde1	A	G	3: 102,960,218 (GRCm39)	Y615C	probably damaging	Het
Dcaf17	A	G	2: 70,912,356 (GRCm39)	K314E	possibly damaging	Het
Dnah10	A	T	5: 124,830,238 (GRCm39)	I711F	probably benign	Het
Duox1	G	T	2: 122,177,755 (GRCm39)	R1513L	probably benign	Het
Exph5	A	G	9: 53,283,917 (GRCm39)	T333A	possibly damaging	Het
Fmnl2	A	G	2: 53,004,880 (GRCm39)	D658G	probably damaging	Het
Gcgr	T	A	11: 120,428,947 (GRCm39)	L395Q	probably damaging	Het
Gm10801	C	CGTA	2: 98,494,152 (GRCm39)		probably null	Het
Greb1	C	T	12: 16,734,487 (GRCm39)	C1501Y	probably benign	Het
Iqgap2	A	G	13: 95,765,471 (GRCm39)	V1533A	probably damaging	Het
Kcnc3	A	C	7: 44,240,932 (GRCm39)	D208A	probably benign	Het
Kctd14	A	G	7: 97,104,160 (GRCm39)		probably benign	Het
Mcm5	C	A	8: 75,836,374 (GRCm39)	D13E	probably benign	Het
Med23	A	G	10: 24,754,341 (GRCm39)	I221V	probably benign	Het
Msantd5f6	T	C	4: 73,320,258 (GRCm39)	I174V	probably benign	Het
Myo19	T	C	11: 84,776,535 (GRCm39)	F64L	probably damaging	Het
Ncapd3	T	G	9: 26,967,454 (GRCm39)	S597A	probably damaging	Het
Neb	A	T	2: 52,141,782 (GRCm39)	Y72*	probably null	Het
Nrip1	C	T	16: 76,091,652 (GRCm39)		probably benign	Het
Or5h26	T	A	16: 58,988,330 (GRCm39)	M59L	probably damaging	Het
Otx1	A	T	11: 21,949,406 (GRCm39)	L24H	probably damaging	Het
Phkb	T	A	8: 86,668,958 (GRCm39)	D328E	probably damaging	Het
Phyh	G	T	2: 4,923,896 (GRCm39)	A6S	possibly damaging	Het
Pole	A	T	5: 110,459,956 (GRCm39)	Q1120L	probably benign	Het
Rbmxl1	T	C	8: 79,232,572 (GRCm39)	Y257C	probably damaging	Het
Smurf2	A	T	11: 106,759,449 (GRCm39)	H69Q	possibly damaging	Het
Tmem167b	A	T	3: 108,469,439 (GRCm39)	M1K	probably null	Het
Tmod4	A	T	3: 95,032,929 (GRCm39)	T22S	probably benign	Het
Vmn2r108	T	C	17: 20,701,402 (GRCm39)	T33A	probably benign	Het
Vmn2r76	T	A	7: 85,877,469 (GRCm39)	R525*	probably null	Het
Zfp109	A	T	7: 23,928,558 (GRCm39)	W292R	probably benign	Het
Zfp292	C	T	4: 34,811,902 (GRCm39)	A381T	probably damaging	Het
Zfp791	C	T	8: 85,840,135 (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
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
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'- GGTACTGCCTATGACTATGACTC -3'
(R):5'- TCCAGGTCTCTGTCGGTAAC -3'

Sequencing Primer
(F):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'
(R):5'- TGTCGGTAACAGCCATGGG -3'

Posted On

2017-08-16