Mutagenetix > Incidental Mutations

Incidental Mutation 'R2442:Trim30c'

249819

Institutional Source

Beutler Lab

Gene Symbol

Trim30c

Ensembl Gene

ENSMUSG00000078616

Gene Name

tripartite motif-containing 30C

Synonyms

Gm5598, Trim30-2

MMRRC Submission

040400-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R2442 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104382065-104400837 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 104382274 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 445 (P445S)

Ref Sequence

ENSEMBL: ENSMUSP00000102441 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106828
AA Change: P445S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102441
Gene: ENSMUSG00000078616
AA Change: P445S

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,328,632	V256A	probably benign	Het
Acap1	T	C	11: 69,889,491	N42S	possibly damaging	Het
Apoo-ps	C	A	13: 107,414,640		noncoding transcript	Het
Bri3	C	T	5: 144,244,601	T39I	probably benign	Het
Bsn	A	G	9: 108,106,920	S3312P	unknown	Het
Camkmt	C	A	17: 85,090,775	A17E	possibly damaging	Het
Cc2d2a	G	T	5: 43,671,305		probably null	Het
Ccdc122	G	T	14: 77,091,958	M150I	possibly damaging	Het
Celf4	A	G	18: 25,753,459	F57L	probably damaging	Het
Cep192	T	A	18: 67,824,688	F564Y	possibly damaging	Het
Ces1c	T	C	8: 93,123,212	D38G	probably damaging	Het
Cts7	C	A	13: 61,355,617	G178*	probably null	Het
Dcc	A	T	18: 71,456,883	Y681N	probably damaging	Het
Dhx29	A	G	13: 112,946,974	E521G	possibly damaging	Het
Dnase2a	T	C	8: 84,908,993	V35A	probably damaging	Het
Eif3l	A	G	15: 79,085,607	M268V	probably damaging	Het
Foxc1	A	G	13: 31,808,798	M531V	unknown	Het
Grin2c	A	G	11: 115,251,134	Y820H	probably damaging	Het
Ifit1bl1	G	A	19: 34,594,889	A56V	probably benign	Het
Iqsec1	T	C	6: 90,689,883	E524G	possibly damaging	Het
Kcnt2	A	G	1: 140,376,353	I154V	possibly damaging	Het
Kdm1b	T	A	13: 47,062,975	Y274N	probably benign	Het
Kntc1	T	A	5: 123,810,859	L1889Q	probably damaging	Het
Lama1	A	G	17: 67,768,317	T1010A	probably benign	Het
Mmp11	T	C	10: 75,927,245	N171S	probably benign	Het
Myom1	A	G	17: 71,110,735	E1409G	probably damaging	Het
N4bp1	A	G	8: 86,862,040	I90T	probably damaging	Het
Olfr1263	T	C	2: 90,015,341	V137A	probably benign	Het
Plcb4	T	C	2: 135,950,382	S342P	probably damaging	Het
Plg	A	G	17: 12,410,960	E627G	probably benign	Het
Rsf1	CG	CGACGGCGGAG	7: 97,579,908		probably benign	Het
Sla2	G	A	2: 156,875,942	R137C	probably damaging	Het
Slc7a14	A	G	3: 31,230,320	I289T	probably damaging	Het
Srpr	G	A	9: 35,212,001	G43S	possibly damaging	Het
Tbc1d9	T	C	8: 83,166,076	M1T	probably null	Het
Tcte2	A	T	17: 13,714,077	I90N	possibly damaging	Het
Trrap	A	G	5: 144,817,966	Q1984R	probably damaging	Het
Ubn2	T	C	6: 38,491,005	S885P	probably benign	Het
Unc45a	A	G	7: 80,339,669	F17S	probably damaging	Het
Uts2b	C	T	16: 27,361,032	V75I	probably benign	Het
Vmn2r103	A	G	17: 19,773,531	K57E	probably benign	Het
Vmn2r82	A	G	10: 79,385,376	S524G	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
R5326:Trim30c	UTSW	7	104388304	missense	possibly damaging	0.89
R5777:Trim30c	UTSW	7	104383331	missense	probably benign	0.08
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
Z1176:Trim30c	UTSW	7	104383258	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GCCCACATACTGTCATTGGC -3'
(R):5'- ACCTGGATCCTGGGATTAAATGATG -3'

Sequencing Primer
(F):5'- TGGCTCTGAACATTCCATAGG -3'
(R):5'- GATGGACTGTGTGTTCAACCTCAAC -3'

Posted On

2014-11-12