Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R5777 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104382065-104400837 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104383331 bp (GRCm38)

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: 105,567,368	E41G	probably benign	Het
Amph	A	T	13: 19,046,016	N45Y	probably damaging	Het
Atp11a	T	A	8: 12,832,522	L470Q	probably damaging	Het
C130073F10Rik	T	A	4: 101,890,749	Y76F	possibly damaging	Het
Casp12	A	T	9: 5,354,548	I306F	probably benign	Het
Cobll1	A	T	2: 65,103,268	M460K	probably benign	Het
Col6a4	A	T	9: 106,013,696	L1800I	possibly damaging	Het
Ctdsp1	T	C	1: 74,394,068	V131A	probably damaging	Het
Ctnna3	A	G	10: 64,675,885	H618R	probably benign	Het
Dhx38	C	A	8: 109,556,902	V538L	possibly damaging	Het
Dtwd1	A	G	2: 126,159,813	D151G	probably damaging	Het
Fbxw28	A	G	9: 109,338,536	L51P	probably damaging	Het
Gm4781	C	T	10: 100,396,969		noncoding transcript	Het
Gm5134	C	A	10: 76,004,760	F479L	probably benign	Het
Hexa	T	G	9: 59,560,960	V290G	probably damaging	Het
Hist3h2ba	A	G	11: 58,949,009	K24E	probably benign	Het
Ifi206	C	T	1: 173,481,362	R356K	possibly damaging	Het
Kcnj12	G	A	11: 61,070,451	R525Q	possibly damaging	Het
Lrp2	A	T	2: 69,455,525	I3774N	probably damaging	Het
Msh4	C	A	3: 153,863,439	M832I	probably benign	Het
Myh10	A	G	11: 68,785,859	E852G	probably damaging	Het
Ndufaf1	A	T	2: 119,660,482	C32*	probably null	Het
Nos2	A	G	11: 78,940,152	E387G	probably null	Het
Olfr1062	A	G	2: 86,423,325	V117A	probably benign	Het
Olfr1311	C	T	2: 112,021,531	G108R	probably damaging	Het
Olfr1352	A	C	10: 78,984,678	D296A	possibly damaging	Het
Olfr197	T	A	16: 59,185,903	L193F	unknown	Het
Olfr545	A	G	7: 102,493,971	V268A	probably benign	Het
Olfr847	A	T	9: 19,375,718	H54Q	probably benign	Het
P3h3	T	C	6: 124,855,958	T211A	probably benign	Het
Pcdh7	A	G	5: 57,719,514	N137S	probably damaging	Het
Pgf	T	C	12: 85,169,374	T157A	possibly damaging	Het
Prex1	T	C	2: 166,586,659	D714G	probably damaging	Het
Scn7a	T	C	2: 66,692,569	I930M	probably damaging	Het
Siglecg	T	C	7: 43,409,413	S197P	possibly damaging	Het
Skint7	T	A	4: 111,988,092	I367N	probably benign	Het
Slfn5	A	T	11: 82,961,004	D652V	probably damaging	Het
Stx1b	G	A	7: 127,810,918	Q3*	probably null	Het
Tex35	T	C	1: 157,107,207	M46V	probably benign	Het
Tkt	A	C	14: 30,558,776	T55P	possibly damaging	Het
U2af2	G	A	7: 5,066,451	R33Q	probably benign	Het
Washc4	T	A	10: 83,555,605	V182D	probably damaging	Het
Xirp2	T	C	2: 67,510,004	V863A	possibly damaging	Het
Zfp976	T	G	7: 42,614,080	H111P	probably benign	Het
Zfp982	A	T	4: 147,510,864	N48Y	probably damaging	Het

Other mutations in Trim30c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Trim30c	APN	7	104382182	nonsense	probably null
IGL00573:Trim30c	APN	7	104382631	missense	possibly damaging	0.66
IGL01023:Trim30c	APN	7	104382972	splice site	probably benign
IGL01413:Trim30c	APN	7	104382334	missense	possibly damaging	0.85
IGL01418:Trim30c	APN	7	104382334	missense	possibly damaging	0.85
IGL02330:Trim30c	APN	7	104382958	missense	possibly damaging	0.61
IGL02389:Trim30c	APN	7	104382174	missense	probably benign	0.00
IGL03107:Trim30c	APN	7	104382613	missense	possibly damaging	0.95
R0195:Trim30c	UTSW	7	104382429	missense	probably benign
R0324:Trim30c	UTSW	7	104383309	missense	possibly damaging	0.79
R0826:Trim30c	UTSW	7	104383481	missense	probably benign	0.01
R0865:Trim30c	UTSW	7	104390451	missense	probably damaging	1.00
R1484:Trim30c	UTSW	7	104383252	missense	probably benign	0.00
R1513:Trim30c	UTSW	7	104382689	missense	probably benign	0.04
R1563:Trim30c	UTSW	7	104382951	missense	probably benign	0.00
R2220:Trim30c	UTSW	7	104383267	missense	probably benign
R2442:Trim30c	UTSW	7	104382274	missense	probably damaging	1.00
R5326:Trim30c	UTSW	7	104388304	missense	possibly damaging	0.89
R6118:Trim30c	UTSW	7	104382081	missense	probably benign	0.01
R6257:Trim30c	UTSW	7	104390168	missense	probably damaging	1.00
R6374:Trim30c	UTSW	7	104390402	missense	probably benign	0.01
R7387:Trim30c	UTSW	7	104390190	missense	probably damaging	1.00
R7419:Trim30c	UTSW	7	104388265	missense	probably benign	0.11
R7500:Trim30c	UTSW	7	104387551	missense	probably benign	0.00
R7542:Trim30c	UTSW	7	104382218	missense	possibly damaging	0.95
R8207:Trim30c	UTSW	7	104383496	missense	probably benign
R8501:Trim30c	UTSW	7	104387470	missense	probably benign
R9059:Trim30c	UTSW	7	104382065	makesense	probably null
R9193:Trim30c	UTSW	7	104382346	missense	probably benign	0.23
Z1176:Trim30c	UTSW	7	104383258	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