Mutagenetix > Incidental Mutation

Incidental Mutation 'R6565:Trim52'

522635

Institutional Source

Beutler Lab

Gene Symbol

Trim52

Ensembl Gene

ENSMUSG00000022113

Gene Name

tripartite motif-containing 52

Synonyms

4921513B05Rik

MMRRC Submission

044689-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R6565 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106343632-106373293 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 106344653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 104 (D104N)

Ref Sequence

ENSEMBL: ENSMUSP00000022708 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022708]

AlphaFold

Q8CDV4

Predicted Effect

probably damaging
Transcript: ENSMUST00000022708
AA Change: D104N

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

SMART Domains

Protein: ENSMUSP00000022708
Gene: ENSMUSG00000022113
AA Change: D104N

Domain	Start	End	E-Value	Type
RING	20	204	2.2e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194236

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	C	A	15: 60,792,659 (GRCm39)	C96F	probably damaging	Het
Abca7	C	T	10: 79,847,622 (GRCm39)	P1764L	probably damaging	Het
Acvr1	G	A	2: 58,369,769 (GRCm39)	T80M	probably damaging	Het
Adgrb2	T	C	4: 129,913,069 (GRCm39)	L1398P	probably damaging	Het
B4galnt3	G	A	6: 120,194,440 (GRCm39)	Q362*	probably null	Het
Cadm3	G	T	1: 173,169,276 (GRCm39)	Q246K	possibly damaging	Het
Cdc14b	T	C	13: 64,373,444 (GRCm39)	T110A	probably benign	Het
Cyp2c55	A	C	19: 39,030,566 (GRCm39)	D466A	probably benign	Het
Dmrtb1	T	C	4: 107,536,542 (GRCm39)	Y308C	probably damaging	Het
Fat3	T	C	9: 15,826,623 (GRCm39)	D4443G	probably benign	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Grin2d	A	G	7: 45,484,179 (GRCm39)	L772P	probably damaging	Het
Gsdme	T	C	6: 50,206,429 (GRCm39)	N138S	probably damaging	Het
Hmgb4	T	A	4: 128,154,388 (GRCm39)	Y60F	probably benign	Het
Ift172	G	A	5: 31,433,227 (GRCm39)	A554V	possibly damaging	Het
Iigp1	T	A	18: 60,523,839 (GRCm39)	V319E	probably damaging	Het
Kit	A	G	5: 75,806,513 (GRCm39)	T673A	probably damaging	Het
Lilra6	A	T	7: 3,918,019 (GRCm39)	W42R	probably benign	Het
Mia3	A	T	1: 183,112,340 (GRCm39)	H477Q	probably damaging	Het
Oas1b	C	A	5: 120,952,611 (GRCm39)	Q101K	possibly damaging	Het
Or2v1	A	G	11: 49,025,639 (GRCm39)	M207V	probably damaging	Het
Or51a5	T	C	7: 102,771,445 (GRCm39)	H178R	probably damaging	Het
Plcl1	T	A	1: 55,737,117 (GRCm39)	C819*	probably null	Het
Pmfbp1	C	T	8: 110,252,060 (GRCm39)	Q402*	probably null	Het
Rps19bp1	CCTTCTTCTTCTTCTTCTTCTT	CCTTCTTCTTCTTCTTCTT	15: 80,145,250 (GRCm39)		probably benign	Het
Skor2	C	G	18: 76,947,607 (GRCm39)	A443G	possibly damaging	Het
Tapbpl	A	G	6: 125,205,307 (GRCm39)	V213A	probably benign	Het

Other mutations in Trim52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01754:Trim52	APN	14	106,344,623 (GRCm39)	nonsense	probably null
IGL02285:Trim52	APN	14	106,344,702 (GRCm39)	missense	probably damaging	1.00
PIT4434001:Trim52	UTSW	14	106,344,732 (GRCm39)	missense	probably benign	0.36
R0453:Trim52	UTSW	14	106,344,399 (GRCm39)	missense	probably damaging	1.00
R0632:Trim52	UTSW	14	106,344,401 (GRCm39)	missense	probably damaging	1.00
R0963:Trim52	UTSW	14	106,344,973 (GRCm39)	missense	probably benign	0.01
R1823:Trim52	UTSW	14	106,344,401 (GRCm39)	missense	probably damaging	1.00
R3436:Trim52	UTSW	14	106,344,741 (GRCm39)	missense	possibly damaging	0.61
R5750:Trim52	UTSW	14	106,344,932 (GRCm39)	missense	probably benign	0.13
R5878:Trim52	UTSW	14	106,344,375 (GRCm39)	missense	probably damaging	0.98
R6603:Trim52	UTSW	14	106,344,483 (GRCm39)	missense	probably damaging	1.00
R9021:Trim52	UTSW	14	106,344,986 (GRCm39)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- GGATTATTTTAAGGACCCCGTGTC -3'
(R):5'- AGCTGAAGACCTGTGGTGTG -3'

Sequencing Primer
(F):5'- TGTGGGCACAACTTCTGC -3'
(R):5'- TCTGGATAGAGCTGCCGAC -3'

Posted On

2018-06-06