Mutagenetix > Incidental Mutation

Incidental Mutation 'R5861:Trim5'

501933

Institutional Source

Beutler Lab

Gene Symbol

Trim5

Ensembl Gene

ENSMUSG00000060441

Gene Name

tripartite motif-containing 5

Synonyms

MMRRC Submission

044073-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R5861 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

103912593-103937301 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 103928728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 71 (L71R)

Ref Sequence

ENSEMBL: ENSMUSP00000095781 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051795] [ENSMUST00000098179]

AlphaFold

E9PV98

Predicted Effect

probably benign
Transcript: ENSMUST00000051795
AA Change: L71R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000050084
Gene: ENSMUSG00000060441
AA Change: L71R

Domain	Start	End	E-Value	Type
RING	15	58	3.64e-7	SMART
BBOX	91	132	4.83e-12	SMART
coiled coil region	172	232	N/A	INTRINSIC
Pfam:SPRY	349	485	9.2e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098179
AA Change: L71R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000095781
Gene: ENSMUSG00000060441
AA Change: L71R

Domain	Start	End	E-Value	Type
RING	15	58	3.64e-7	SMART
BBOX	91	132	4.83e-12	SMART
Pfam:SPRY	351	493	1.6e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138557
AA Change: L71R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119127
Gene: ENSMUSG00000060441
AA Change: L71R

Domain	Start	End	E-Value	Type
RING	15	58	3.64e-7	SMART
BBOX	91	132	4.83e-12	SMART
coiled coil region	173	232	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.3%
20x: 91.3%

Validation Efficiency

98% (81/83)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	T	16: 20,218,644 (GRCm39)	T246N	probably damaging	Het
Aopep	A	G	13: 63,446,626 (GRCm39)	D143G	probably damaging	Het
Arhgap10	C	T	8: 78,037,393 (GRCm39)	A612T	probably damaging	Het
Arsg	T	A	11: 109,454,014 (GRCm39)	F407I	probably damaging	Het
Asxl1	C	A	2: 153,241,310 (GRCm39)	A620D	probably damaging	Het
C2cd3	A	G	7: 100,093,682 (GRCm39)		probably benign	Het
Chn2	G	A	6: 54,267,359 (GRCm39)	V92I	probably damaging	Het
Cog2	T	C	8: 125,264,617 (GRCm39)	F332S	probably damaging	Het
Crhbp	G	A	13: 95,580,333 (GRCm39)	A82V	probably damaging	Het
Cyp2j6	A	G	4: 96,434,040 (GRCm39)	V90A	possibly damaging	Het
Dennd4c	A	T	4: 86,709,589 (GRCm39)	M397L	probably benign	Het
Dnajb8	A	G	6: 88,200,088 (GRCm39)	D208G	possibly damaging	Het
Ecm1	G	C	3: 95,643,909 (GRCm39)	L230V	probably damaging	Het
Ercc2	G	C	7: 19,128,066 (GRCm39)	A696P	possibly damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Gm13035	A	G	4: 146,009,859 (GRCm39)		noncoding transcript	Het
Gm28042	T	C	2: 119,865,116 (GRCm39)	V247A	probably damaging	Het
Gm28455	T	A	7: 39,148,003 (GRCm39)		noncoding transcript	Het
Gpr150	A	T	13: 76,204,192 (GRCm39)	V251D	possibly damaging	Het
Grip1	C	T	10: 119,765,875 (GRCm39)	S69L	probably damaging	Het
Hs6st3	A	G	14: 119,376,265 (GRCm39)	I147V	possibly damaging	Het
Il5	G	A	11: 53,614,743 (GRCm39)	E102K	probably benign	Het
Kif1c	T	C	11: 70,594,621 (GRCm39)	F94L	probably damaging	Het
Lrrc63	T	C	14: 75,344,806 (GRCm39)	E427G	possibly damaging	Het
Man1b1	A	G	2: 25,238,066 (GRCm39)	T384A	probably benign	Het
Mapk15	C	A	15: 75,868,208 (GRCm39)		probably benign	Het
Mfsd10	T	C	5: 34,791,588 (GRCm39)		probably benign	Het
Mgat5	C	A	1: 127,315,129 (GRCm39)	A285E	probably damaging	Het
Mroh4	T	A	15: 74,478,456 (GRCm39)		probably benign	Het
Myf5	A	T	10: 107,320,069 (GRCm39)	C194S	probably benign	Het
Myh7	A	G	14: 55,226,347 (GRCm39)	V431A	possibly damaging	Het
Nadsyn1	A	C	7: 143,364,964 (GRCm39)	M247R	possibly damaging	Het
Nipsnap3b	A	G	4: 53,021,177 (GRCm39)	D166G	probably damaging	Het
Nqo2	A	T	13: 34,156,413 (GRCm39)	L42F	probably damaging	Het
Nt5dc3	A	T	10: 86,651,738 (GRCm39)	D180V	probably damaging	Het
Numa1	C	A	7: 101,658,494 (GRCm39)		probably null	Het
Olfm3	T	A	3: 114,916,052 (GRCm39)	L328Q	probably damaging	Het
Or4e1	T	C	14: 52,700,953 (GRCm39)	Y171C	probably damaging	Het
Or5w17	A	T	2: 87,583,922 (GRCm39)	N138K	probably benign	Het
Or7a37	A	T	10: 78,805,765 (GRCm39)	Y94F	probably damaging	Het
Papolb	T	C	5: 142,514,992 (GRCm39)	N217S	possibly damaging	Het
Pcmtd2	C	A	2: 181,484,268 (GRCm39)	T26K	probably damaging	Het
Pld5	T	G	1: 175,917,571 (GRCm39)	N59H	probably damaging	Het
Ppm1d	T	C	11: 85,202,674 (GRCm39)	S126P	possibly damaging	Het
Ppp1r21	T	C	17: 88,889,937 (GRCm39)	L727P	probably damaging	Het
Pramel20	G	T	4: 143,297,810 (GRCm39)	V77L	probably benign	Het
Prpsap2	C	T	11: 61,627,870 (GRCm39)	R202H	probably damaging	Het
Rara	T	A	11: 98,858,987 (GRCm39)	C148*	probably null	Het
Rexo2	A	T	9: 48,386,481 (GRCm39)	I83N	probably damaging	Het
Rnf213	A	G	11: 119,364,203 (GRCm39)	R4501G	probably damaging	Het
Rps5	T	A	7: 12,659,501 (GRCm39)	F97L	probably damaging	Het
Sigirr	G	A	7: 140,671,292 (GRCm39)	R397W	probably damaging	Het
Slc6a6	T	C	6: 91,718,014 (GRCm39)	Y318H	probably damaging	Het
Spam1	A	G	6: 24,796,570 (GRCm39)	T174A	probably benign	Het
Stam2	G	T	2: 52,632,116 (GRCm39)		probably benign	Het
Taar7a	T	C	10: 23,868,337 (GRCm39)	E348G	probably benign	Het
Taf11	T	C	17: 28,120,644 (GRCm39)	T209A	probably benign	Het
Tenm4	A	G	7: 96,492,424 (GRCm39)		probably benign	Het
Tmed6	G	T	8: 107,790,786 (GRCm39)	T87K	probably damaging	Het
Uevld	A	T	7: 46,576,104 (GRCm39)	S461T	probably benign	Het
Vmn2r6	T	A	3: 64,463,454 (GRCm39)	N460I	probably benign	Het
Ylpm1	C	T	12: 85,087,660 (GRCm39)	P1148L	probably damaging	Het
Zfp316	T	C	5: 143,249,095 (GRCm39)	Y180C	unknown	Het
Zfp941	A	G	7: 140,392,052 (GRCm39)	S436P	probably damaging	Het
Zfp979	G	A	4: 147,697,966 (GRCm39)	Q248*	probably null	Het
Zscan29	G	T	2: 120,994,518 (GRCm39)	T489N	probably damaging	Het

Other mutations in Trim5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01702:Trim5	APN	7	103,928,638 (GRCm39)	missense	probably damaging	1.00
IGL02165:Trim5	APN	7	103,928,566 (GRCm39)	missense	probably damaging	1.00
IGL02576:Trim5	APN	7	103,927,624 (GRCm39)	missense	probably damaging	0.97
IGL02660:Trim5	APN	7	103,915,425 (GRCm39)	missense	probably damaging	0.96
IGL02732:Trim5	APN	7	103,927,672 (GRCm39)	missense	probably benign	0.02
R0278:Trim5	UTSW	7	103,928,882 (GRCm39)	missense	probably benign	0.00
R0373:Trim5	UTSW	7	103,914,891 (GRCm39)	missense	probably benign	0.00
R0508:Trim5	UTSW	7	103,914,811 (GRCm39)	missense	probably null	0.98
R0840:Trim5	UTSW	7	103,914,978 (GRCm39)	missense	probably damaging	1.00
R0947:Trim5	UTSW	7	103,914,958 (GRCm39)	missense	probably damaging	1.00
R1432:Trim5	UTSW	7	103,928,728 (GRCm39)	missense	probably benign
R1432:Trim5	UTSW	7	103,928,726 (GRCm39)	missense	probably benign	0.04
R1770:Trim5	UTSW	7	103,925,868 (GRCm39)	missense	probably damaging	1.00
R1782:Trim5	UTSW	7	103,915,023 (GRCm39)	splice site	probably null
R1988:Trim5	UTSW	7	103,914,828 (GRCm39)	missense	probably damaging	0.99
R2140:Trim5	UTSW	7	103,925,998 (GRCm39)	nonsense	probably null
R3110:Trim5	UTSW	7	103,928,845 (GRCm39)	missense	probably damaging	1.00
R3112:Trim5	UTSW	7	103,928,845 (GRCm39)	missense	probably damaging	1.00
R3893:Trim5	UTSW	7	103,926,042 (GRCm39)	missense	probably damaging	0.98
R3948:Trim5	UTSW	7	103,915,727 (GRCm39)	nonsense	probably null
R4114:Trim5	UTSW	7	103,914,947 (GRCm39)	missense	probably damaging	0.99
R4249:Trim5	UTSW	7	103,926,022 (GRCm39)	missense	possibly damaging	0.83
R4352:Trim5	UTSW	7	103,926,015 (GRCm39)	missense	probably damaging	1.00
R4595:Trim5	UTSW	7	103,914,639 (GRCm39)	missense	probably damaging	1.00
R5057:Trim5	UTSW	7	103,914,630 (GRCm39)	missense	probably damaging	1.00
R5583:Trim5	UTSW	7	103,926,042 (GRCm39)	missense	probably damaging	0.98
R5861:Trim5	UTSW	7	103,928,726 (GRCm39)	missense	probably benign	0.04
R7027:Trim5	UTSW	7	103,914,875 (GRCm39)	missense	probably benign	0.00
R7078:Trim5	UTSW	7	103,927,681 (GRCm39)	missense	possibly damaging	0.85
R7150:Trim5	UTSW	7	103,926,017 (GRCm39)	missense	probably damaging	0.96
R7657:Trim5	UTSW	7	103,925,884 (GRCm39)	missense	possibly damaging	0.51
R7660:Trim5	UTSW	7	103,928,569 (GRCm39)	missense	probably damaging	1.00
R7737:Trim5	UTSW	7	103,928,771 (GRCm39)	missense	probably damaging	1.00
R7821:Trim5	UTSW	7	103,927,633 (GRCm39)	missense	probably benign	0.32
R7861:Trim5	UTSW	7	103,915,675 (GRCm39)	critical splice donor site	probably null
R8167:Trim5	UTSW	7	103,927,630 (GRCm39)	missense	probably damaging	0.99
R8220:Trim5	UTSW	7	103,926,033 (GRCm39)	missense	probably damaging	0.96
R8296:Trim5	UTSW	7	103,914,993 (GRCm39)	missense	probably damaging	1.00
R8555:Trim5	UTSW	7	103,927,330 (GRCm39)	splice site	probably null
Z1088:Trim5	UTSW	7	103,915,432 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- CCACCTCTTCAATGAGAGCTG -3'
(R):5'- CACAGCAACTATGGCTTCAC -3'

Sequencing Primer
(F):5'- ACCTCTTCAATGAGAGCTGTTTTG -3'
(R):5'- CAGCAACTATGGCTTCACAATTCATG -3'

Posted On

2018-01-08