Mutagenetix > Incidental Mutation

Incidental Mutation 'R6441:Trim31'

519033

Institutional Source

Beutler Lab

Gene Symbol

Trim31

Ensembl Gene

ENSMUSG00000058063

Gene Name

tripartite motif-containing 31

Synonyms

HCG1

MMRRC Submission

044579-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6441 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37209022-37221109 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 37218683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 323 (Q323K)

Ref Sequence

ENSEMBL: ENSMUSP00000077535 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078438]

AlphaFold

Q8R0K2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078438
AA Change: Q323K

PolyPhen 2 Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000077535
Gene: ENSMUSG00000058063
AA Change: Q323K

Domain	Start	End	E-Value	Type
RING	16	55	6.63e-10	SMART
BBOX	89	130	1.29e-12	SMART
low complexity region	149	164	N/A	INTRINSIC
coiled coil region	269	299	N/A	INTRINSIC
PRY	332	387	4.4e-2	SMART
Pfam:SPRY	390	506	1.6e-9	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions as an E3 ubiquitin-protein ligase. This gene shows altered expression in certain tumors and may be a negative regulator of cell growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	A	T	3: 116,565,108 (GRCm39)	M1047K	probably benign	Het
Apob	A	T	12: 8,037,796 (GRCm39)	D322V	probably damaging	Het
Capn12	T	A	7: 28,587,427 (GRCm39)	C438S	probably benign	Het
Cdh23	A	T	10: 60,143,815 (GRCm39)	V2932E	probably damaging	Het
Cdh9	A	T	15: 16,823,509 (GRCm39)	T164S	probably benign	Het
Cimap1a	T	C	7: 140,429,161 (GRCm39)	S149P	probably damaging	Het
CN725425	T	C	15: 91,120,005 (GRCm39)	V42A	probably benign	Het
Cpb1	T	C	3: 20,303,978 (GRCm39)	D362G	probably damaging	Het
Csmd2	C	A	4: 128,288,757 (GRCm39)	Q1099K	probably benign	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Galnt4	A	G	10: 98,945,960 (GRCm39)	M562V	possibly damaging	Het
Gtf3c3	T	A	1: 54,445,197 (GRCm39)	E619V	probably benign	Het
Gucy2c	A	T	6: 136,700,759 (GRCm39)	M585K	probably damaging	Het
Hmcn1	A	G	1: 150,578,967 (GRCm39)	I1993T	possibly damaging	Het
Lonrf2	T	C	1: 38,857,204 (GRCm39)	E44G	possibly damaging	Het
Lrit3	A	T	3: 129,594,009 (GRCm39)	F189L	probably benign	Het
Mag	T	C	7: 30,606,508 (GRCm39)	N310D	possibly damaging	Het
Mccc2	T	C	13: 100,091,184 (GRCm39)	T151A	probably damaging	Het
Mybpc1	A	T	10: 88,389,139 (GRCm39)	S49T	probably benign	Het
Myh2	A	G	11: 67,085,437 (GRCm39)	E1787G	probably benign	Het
Ncapd3	A	G	9: 26,974,712 (GRCm39)	D728G	probably benign	Het
Nup37	A	G	10: 87,996,799 (GRCm39)	E139G	probably benign	Het
Or52h9	C	T	7: 104,202,542 (GRCm39)	Q139*	probably null	Het
Pcdhgb5	A	G	18: 37,865,138 (GRCm39)	Y311C	probably damaging	Het
Pls1	A	G	9: 95,636,798 (GRCm39)	I558T	probably damaging	Het
Rbm44	A	T	1: 91,084,799 (GRCm39)	N674Y	probably damaging	Het
Ryr1	T	C	7: 28,759,120 (GRCm39)	I3353V	possibly damaging	Het
Sema3c	C	T	5: 17,929,130 (GRCm39)	T588I	possibly damaging	Het
Sh2d5	A	T	4: 137,986,393 (GRCm39)	E372V	possibly damaging	Het
Slc27a6	C	T	18: 58,705,130 (GRCm39)	P171S	probably benign	Het
Slfn3	C	T	11: 83,105,740 (GRCm39)	T579I	probably benign	Het
Svil	T	G	18: 5,049,323 (GRCm39)	V287G	probably benign	Het
Tas1r2	T	A	4: 139,396,467 (GRCm39)	V602D	probably damaging	Het
Tln2	A	G	9: 67,179,971 (GRCm39)	L800P	probably damaging	Het
Txndc9	T	A	1: 38,029,299 (GRCm39)	D183V	possibly damaging	Het
Vmn2r28	T	A	7: 5,491,474 (GRCm39)	M258L	probably benign	Het
Vmn2r75	A	T	7: 85,820,784 (GRCm39)	I50N	probably damaging	Het
Zgrf1	A	T	3: 127,381,683 (GRCm39)	N1161Y	possibly damaging	Het

Other mutations in Trim31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00486:Trim31	APN	17	37,220,133 (GRCm39)	missense	probably benign	0.02
IGL01336:Trim31	APN	17	37,220,269 (GRCm39)	missense	probably damaging	0.97
IGL01420:Trim31	APN	17	37,209,303 (GRCm39)	missense	probably benign	0.01
R1485:Trim31	UTSW	17	37,209,568 (GRCm39)	missense	probably damaging	1.00
R1901:Trim31	UTSW	17	37,212,692 (GRCm39)	missense	probably benign	0.06
R2962:Trim31	UTSW	17	37,210,796 (GRCm39)	missense	probably damaging	1.00
R4569:Trim31	UTSW	17	37,209,633 (GRCm39)	missense	probably benign	0.37
R5352:Trim31	UTSW	17	37,210,810 (GRCm39)	missense	possibly damaging	0.83
R5439:Trim31	UTSW	17	37,216,797 (GRCm39)	critical splice acceptor site	probably null
R6128:Trim31	UTSW	17	37,220,491 (GRCm39)	missense	probably benign	0.00
R6179:Trim31	UTSW	17	37,220,501 (GRCm39)	missense	probably damaging	1.00
R7068:Trim31	UTSW	17	37,209,408 (GRCm39)	missense	probably damaging	1.00
R7310:Trim31	UTSW	17	37,218,194 (GRCm39)	missense	probably benign	0.00
R7459:Trim31	UTSW	17	37,220,554 (GRCm39)	missense	probably damaging	0.98
R8506:Trim31	UTSW	17	37,218,150 (GRCm39)	critical splice acceptor site	probably null
R8811:Trim31	UTSW	17	37,210,875 (GRCm39)	missense	probably benign	0.28
R9139:Trim31	UTSW	17	37,220,145 (GRCm39)	missense	probably benign	0.36
R9139:Trim31	UTSW	17	37,209,382 (GRCm39)	missense	possibly damaging	0.73
R9612:Trim31	UTSW	17	37,212,551 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- CAGCTCGGTCTGTAGTTGGAAC -3'
(R):5'- TGAGAGCAGTCATTCATGCAGG -3'

Sequencing Primer
(F):5'- TGGAACTGACCTATGGTGCCAG -3'
(R):5'- GTCATTCATGCAGGGAAGTACCTC -3'

Posted On

2018-05-24