Mutagenetix > Incidental Mutation

Incidental Mutation 'R5777:Trim30c'

446760

Institutional Source

Beutler Lab

Gene Symbol

Trim30c

Ensembl Gene

ENSMUSG00000078616

Gene Name

tripartite motif-containing 30C

Synonyms

Gm5598, Trim30-2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R5777 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104031272-104050044 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104032538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 263 (R263G)

Ref Sequence

ENSEMBL: ENSMUSP00000102441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106828]

AlphaFold

D3YVI9

Predicted Effect

probably benign
Transcript: ENSMUST00000106828
AA Change: R263G

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000102441
Gene: ENSMUSG00000078616
AA Change: R263G

Domain	Start	End	E-Value	Type
RING	16	59	2.51e-10	SMART
BBOX	92	133	2.02e-14	SMART
low complexity region	197	229	N/A	INTRINSIC
Pfam:SPRY	356	495	1.9e-9	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrp	T	C	8: 106,294,000 (GRCm39)	E41G	probably benign	Het
Amph	A	T	13: 19,230,186 (GRCm39)	N45Y	probably damaging	Het
Atp11a	T	A	8: 12,882,522 (GRCm39)	L470Q	probably damaging	Het
C130073F10Rik	T	A	4: 101,747,946 (GRCm39)	Y76F	possibly damaging	Het
Casp12	A	T	9: 5,354,548 (GRCm39)	I306F	probably benign	Het
Cobll1	A	T	2: 64,933,612 (GRCm39)	M460K	probably benign	Het
Col6a4	A	T	9: 105,890,895 (GRCm39)	L1800I	possibly damaging	Het
Ctdsp1	T	C	1: 74,433,227 (GRCm39)	V131A	probably damaging	Het
Ctnna3	A	G	10: 64,511,664 (GRCm39)	H618R	probably benign	Het
Dhx38	C	A	8: 110,283,534 (GRCm39)	V538L	possibly damaging	Het
Dtwd1	A	G	2: 126,001,733 (GRCm39)	D151G	probably damaging	Het
Fbxw28	A	G	9: 109,167,604 (GRCm39)	L51P	probably damaging	Het
Gm4781	C	T	10: 100,232,831 (GRCm39)		noncoding transcript	Het
Gm5134	C	A	10: 75,840,594 (GRCm39)	F479L	probably benign	Het
H2bc27	A	G	11: 58,839,835 (GRCm39)	K24E	probably benign	Het
Hexa	T	G	9: 59,468,243 (GRCm39)	V290G	probably damaging	Het
Ifi206	C	T	1: 173,308,928 (GRCm39)	R356K	possibly damaging	Het
Kcnj12	G	A	11: 60,961,277 (GRCm39)	R525Q	possibly damaging	Het
Lrp2	A	T	2: 69,285,869 (GRCm39)	I3774N	probably damaging	Het
Msh4	C	A	3: 153,569,076 (GRCm39)	M832I	probably benign	Het
Myh10	A	G	11: 68,676,685 (GRCm39)	E852G	probably damaging	Het
Ndufaf1	A	T	2: 119,490,963 (GRCm39)	C32*	probably null	Het
Nos2	A	G	11: 78,830,978 (GRCm39)	E387G	probably null	Het
Or4f58	C	T	2: 111,851,876 (GRCm39)	G108R	probably damaging	Het
Or55b10	A	G	7: 102,143,178 (GRCm39)	V268A	probably benign	Het
Or5h27	T	A	16: 59,006,266 (GRCm39)	L193F	unknown	Het
Or7a36	A	C	10: 78,820,512 (GRCm39)	D296A	possibly damaging	Het
Or7g29	A	T	9: 19,287,014 (GRCm39)	H54Q	probably benign	Het
Or8j3c	A	G	2: 86,253,669 (GRCm39)	V117A	probably benign	Het
P3h3	T	C	6: 124,832,921 (GRCm39)	T211A	probably benign	Het
Pcdh7	A	G	5: 57,876,856 (GRCm39)	N137S	probably damaging	Het
Pgf	T	C	12: 85,216,148 (GRCm39)	T157A	possibly damaging	Het
Prex1	T	C	2: 166,428,579 (GRCm39)	D714G	probably damaging	Het
Scn7a	T	C	2: 66,522,913 (GRCm39)	I930M	probably damaging	Het
Siglecg	T	C	7: 43,058,837 (GRCm39)	S197P	possibly damaging	Het
Skint7	T	A	4: 111,845,289 (GRCm39)	I367N	probably benign	Het
Slfn5	A	T	11: 82,851,830 (GRCm39)	D652V	probably damaging	Het
Stx1b	G	A	7: 127,410,090 (GRCm39)	Q3*	probably null	Het
Tex35	T	C	1: 156,934,777 (GRCm39)	M46V	probably benign	Het
Tkt	A	C	14: 30,280,733 (GRCm39)	T55P	possibly damaging	Het
U2af2	G	A	7: 5,069,450 (GRCm39)	R33Q	probably benign	Het
Washc4	T	A	10: 83,391,469 (GRCm39)	V182D	probably damaging	Het
Xirp2	T	C	2: 67,340,348 (GRCm39)	V863A	possibly damaging	Het
Zfp976	T	G	7: 42,263,504 (GRCm39)	H111P	probably benign	Het
Zfp982	A	T	4: 147,595,321 (GRCm39)	N48Y	probably damaging	Het

Other mutations in Trim30c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Trim30c	APN	7	104,031,389 (GRCm39)	nonsense	probably null
IGL00573:Trim30c	APN	7	104,031,838 (GRCm39)	missense	possibly damaging	0.66
IGL01023:Trim30c	APN	7	104,032,179 (GRCm39)	splice site	probably benign
IGL01413:Trim30c	APN	7	104,031,541 (GRCm39)	missense	possibly damaging	0.85
IGL01418:Trim30c	APN	7	104,031,541 (GRCm39)	missense	possibly damaging	0.85
IGL02330:Trim30c	APN	7	104,032,165 (GRCm39)	missense	possibly damaging	0.61
IGL02389:Trim30c	APN	7	104,031,381 (GRCm39)	missense	probably benign	0.00
IGL03107:Trim30c	APN	7	104,031,820 (GRCm39)	missense	possibly damaging	0.95
R0195:Trim30c	UTSW	7	104,031,636 (GRCm39)	missense	probably benign
R0324:Trim30c	UTSW	7	104,032,516 (GRCm39)	missense	possibly damaging	0.79
R0826:Trim30c	UTSW	7	104,032,688 (GRCm39)	missense	probably benign	0.01
R0865:Trim30c	UTSW	7	104,039,658 (GRCm39)	missense	probably damaging	1.00
R1484:Trim30c	UTSW	7	104,032,459 (GRCm39)	missense	probably benign	0.00
R1513:Trim30c	UTSW	7	104,031,896 (GRCm39)	missense	probably benign	0.04
R1563:Trim30c	UTSW	7	104,032,158 (GRCm39)	missense	probably benign	0.00
R2220:Trim30c	UTSW	7	104,032,474 (GRCm39)	missense	probably benign
R2442:Trim30c	UTSW	7	104,031,481 (GRCm39)	missense	probably damaging	1.00
R5326:Trim30c	UTSW	7	104,037,511 (GRCm39)	missense	possibly damaging	0.89
R6118:Trim30c	UTSW	7	104,031,288 (GRCm39)	missense	probably benign	0.01
R6257:Trim30c	UTSW	7	104,039,375 (GRCm39)	missense	probably damaging	1.00
R6374:Trim30c	UTSW	7	104,039,609 (GRCm39)	missense	probably benign	0.01
R7387:Trim30c	UTSW	7	104,039,397 (GRCm39)	missense	probably damaging	1.00
R7419:Trim30c	UTSW	7	104,037,472 (GRCm39)	missense	probably benign	0.11
R7500:Trim30c	UTSW	7	104,036,758 (GRCm39)	missense	probably benign	0.00
R7542:Trim30c	UTSW	7	104,031,425 (GRCm39)	missense	possibly damaging	0.95
R8207:Trim30c	UTSW	7	104,032,703 (GRCm39)	missense	probably benign
R8501:Trim30c	UTSW	7	104,036,677 (GRCm39)	missense	probably benign
R9059:Trim30c	UTSW	7	104,031,272 (GRCm39)	makesense	probably null
R9193:Trim30c	UTSW	7	104,031,553 (GRCm39)	missense	probably benign	0.23
Z1176:Trim30c	UTSW	7	104,032,465 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GATGCCATAGGGACACAGTATC -3'
(R):5'- TCCCTAGGGCATGAATTCTGTTC -3'

Sequencing Primer
(F):5'- ATAGGGACACAGTATCTGCTCTC -3'
(R):5'- TTCTAACAAGGTATGTCAGGGC -3'

Posted On

2016-12-15