Mutagenetix > Incidental Mutation

Incidental Mutation 'R6179:Trim31'

487960

Institutional Source

Beutler Lab

Gene Symbol

Trim31

Ensembl Gene

ENSMUSG00000058063

Gene Name

tripartite motif-containing 31

Synonyms

HCG1

MMRRC Submission

044321-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6179 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37209022-37221109 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37220501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 472 (D472E)

Ref Sequence

ENSEMBL: ENSMUSP00000077535 (fasta)

Gene Model

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

AlphaFold

Q8R0K2

Predicted Effect

probably damaging
Transcript: ENSMUST00000078438
AA Change: D472E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000077535
Gene: ENSMUSG00000058063
AA Change: D472E

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: 99.5%
10x: 97.7%
20x: 93.5%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930426L09Rik	T	C	2: 19,003,653 (GRCm39)		probably benign	Het
4930590J08Rik	T	C	6: 91,919,311 (GRCm39)	S657P	probably damaging	Het
Abca9	T	C	11: 110,025,080 (GRCm39)	I988V	probably benign	Het
Acte1	A	G	7: 143,425,524 (GRCm39)	T58A	probably benign	Het
Aox4	T	A	1: 58,270,662 (GRCm39)	D280E	probably benign	Het
Apob	T	A	12: 8,055,060 (GRCm39)	L1353*	probably null	Het
Atp2b1	C	T	10: 98,858,691 (GRCm39)	R222C	probably damaging	Het
AW209491	T	G	13: 14,811,668 (GRCm39)	S174A	possibly damaging	Het
B930094E09Rik	G	C	18: 31,742,911 (GRCm39)		probably benign	Het
Cbln3	G	T	14: 56,121,517 (GRCm39)	P43Q	possibly damaging	Het
Ccdc181	A	T	1: 164,107,487 (GRCm39)	T57S	probably benign	Het
Ccr2	A	C	9: 123,906,008 (GRCm39)	N96T	probably damaging	Het
Cep131	T	C	11: 119,956,837 (GRCm39)	I868V	probably benign	Het
Chd2	A	G	7: 73,094,071 (GRCm39)	I1535T	probably damaging	Het
Chl1	A	T	6: 103,660,204 (GRCm39)	T377S	probably benign	Het
Cpeb3	A	G	19: 37,065,853 (GRCm39)	F439L	probably damaging	Het
Crb2	T	C	2: 37,680,269 (GRCm39)	V399A	probably damaging	Het
Cry2	C	T	2: 92,244,187 (GRCm39)	G329R	probably damaging	Het
Dock4	A	G	12: 40,781,868 (GRCm39)	E691G	probably benign	Het
Edil3	A	T	13: 88,970,108 (GRCm39)	H3L	probably benign	Het
Endod1	T	C	9: 14,268,757 (GRCm39)	I243V	probably benign	Het
Fpr3	G	A	17: 18,190,919 (GRCm39)	W63*	probably null	Het
Gtse1	T	G	15: 85,753,158 (GRCm39)	N424K	possibly damaging	Het
Kcnt1	G	A	2: 25,783,192 (GRCm39)	V252M	probably damaging	Het
Kifbp	G	A	10: 62,399,029 (GRCm39)	Q130*	probably null	Het
Lmbrd2	T	G	15: 9,149,262 (GRCm39)	I48M	probably damaging	Het
Lrrc7	T	G	3: 158,059,069 (GRCm39)	I13L	probably damaging	Het
Mbd4	A	G	6: 115,822,386 (GRCm39)	S408P	probably benign	Het
Mphosph10	A	G	7: 64,028,529 (GRCm39)	V542A	possibly damaging	Het
Msto1	C	A	3: 88,818,254 (GRCm39)	R331L	probably damaging	Het
Myh10	G	A	11: 68,692,979 (GRCm39)	E1425K	probably damaging	Het
Nup43	T	C	10: 7,554,437 (GRCm39)	I340T	probably benign	Het
Or1j4	T	C	2: 36,740,846 (GRCm39)	S263P	possibly damaging	Het
Pcm1	T	A	8: 41,736,669 (GRCm39)	M884K	probably damaging	Het
Phf20	T	A	2: 156,140,573 (GRCm39)	L749H	probably damaging	Het
Pigp	T	C	16: 94,171,226 (GRCm39)	R22G	probably null	Het
Polr2b	T	C	5: 77,468,824 (GRCm39)	M200T	probably damaging	Het
Ppig	T	A	2: 69,580,471 (GRCm39)	D668E	unknown	Het
Prss3	G	A	6: 41,352,060 (GRCm39)	R68C	probably benign	Het
Retreg3	G	A	11: 100,994,721 (GRCm39)		probably benign	Het
Shank1	T	C	7: 44,006,630 (GRCm39)	F2116L	possibly damaging	Het
Spg21	T	C	9: 65,376,090 (GRCm39)	S33P	possibly damaging	Het
Spns3	A	G	11: 72,390,349 (GRCm39)	S432P	probably damaging	Het
Stra6	A	G	9: 58,042,452 (GRCm39)	E27G	probably damaging	Het
Tanc1	A	G	2: 59,673,320 (GRCm39)	Q1468R	probably benign	Het
Tbce	T	G	13: 14,194,362 (GRCm39)	E99A	probably benign	Het
Tmem106b	T	C	6: 13,084,252 (GRCm39)	V252A	probably damaging	Het
Trim10	A	G	17: 37,187,923 (GRCm39)	T380A	probably damaging	Het
Vmn2r28	G	A	7: 5,491,003 (GRCm39)	Q415*	probably null	Het
Vwf	G	A	6: 125,626,252 (GRCm39)	C7Y	unknown	Het
Yeats2	C	T	16: 20,033,225 (GRCm39)	P1088L	probably benign	Het
Zfp40	C	A	17: 23,397,354 (GRCm39)	V48L	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
R6441:Trim31	UTSW	17	37,218,683 (GRCm39)	missense	possibly damaging	0.57
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'- ACCCTTTCCACTGTGTGAGG -3'
(R):5'- GGGCCACACTTCACTTCTAC -3'

Sequencing Primer
(F):5'- TTACAGAGTTGGCGCGAG -3'
(R):5'- GGCCACACTTCACTTCTACCATTTG -3'

Posted On

2017-10-10