Mutagenetix > Incidental Mutation

Incidental Mutation 'R6118:Trim30c'

485211

Institutional Source

Beutler Lab

Gene Symbol

Trim30c

Ensembl Gene

ENSMUSG00000078616

Gene Name

tripartite motif-containing 30C

Synonyms

Gm5598, Trim30-2

MMRRC Submission

044267-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R6118 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104031272-104050044 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 104031288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 509 (T509K)

Ref Sequence

ENSEMBL: ENSMUSP00000102441 (fasta)

Gene Model

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

AlphaFold

D3YVI9

Predicted Effect

probably benign
Transcript: ENSMUST00000106828
AA Change: T509K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000102441
Gene: ENSMUSG00000078616
AA Change: T509K

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: 99.9%
3x: 99.5%
10x: 97.6%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	G	10: 10,307,035 (GRCm39)	K316N	probably damaging	Het
Als2	A	T	1: 59,242,228 (GRCm39)	V609E	possibly damaging	Het
Ank3	A	G	10: 69,830,231 (GRCm39)	I71V	probably damaging	Het
Antxr2	T	A	5: 98,097,060 (GRCm39)	D351V	probably damaging	Het
Arel1	A	G	12: 84,988,713 (GRCm39)	V12A	possibly damaging	Het
Atad1	C	T	19: 32,664,697 (GRCm39)	R239H	possibly damaging	Het
B3galnt2	A	G	13: 14,166,094 (GRCm39)	T330A	probably damaging	Het
Bag6	T	A	17: 35,362,600 (GRCm39)	I636N	probably damaging	Het
C1qtnf6	T	C	15: 78,409,595 (GRCm39)	D84G	probably damaging	Het
Ceacam20	T	C	7: 19,705,654 (GRCm39)	V215A	possibly damaging	Het
Chtf18	C	T	17: 25,938,133 (GRCm39)	D967N	probably damaging	Het
Cntnap2	T	A	6: 47,170,011 (GRCm39)	I1159K	possibly damaging	Het
Col2a1	T	C	15: 97,896,448 (GRCm39)	D67G	unknown	Het
Csde1	T	A	3: 102,962,070 (GRCm39)	V627E	probably benign	Het
Epb41l1	G	A	2: 156,364,397 (GRCm39)	E969K	probably benign	Het
Fam53c	A	C	18: 34,901,743 (GRCm39)	E220A	probably damaging	Het
Gabbr2	C	T	4: 46,736,459 (GRCm39)	R474Q	probably damaging	Het
H2bc18	T	A	3: 96,177,267 (GRCm39)	V67E	probably damaging	Het
Hap1	G	T	11: 100,246,620 (GRCm39)	T95N	probably benign	Het
Jmjd1c	A	G	10: 67,075,791 (GRCm39)	K1886R	probably damaging	Het
Kndc1	A	G	7: 139,503,717 (GRCm39)	D1007G	probably damaging	Het
Mcm2	C	T	6: 88,864,818 (GRCm39)	A553T	probably damaging	Het
Memo1	T	C	17: 74,509,302 (GRCm39)	Y239C	possibly damaging	Het
Meox2	GCACCACCACCACCACCACCA	GCACCACCACCACCACCA	12: 37,159,030 (GRCm39)		probably benign	Het
Mptx2	G	A	1: 173,102,414 (GRCm39)	L92F	probably benign	Het
Obsl1	A	G	1: 75,468,722 (GRCm39)		probably benign	Het
Or4c107	T	A	2: 88,789,462 (GRCm39)	Y217*	probably null	Het
Or8k35	T	A	2: 86,424,758 (GRCm39)	H138L	probably benign	Het
Pold3	A	G	7: 99,745,614 (GRCm39)	S180P	possibly damaging	Het
Rbm12b2	T	C	4: 12,095,135 (GRCm39)	S665P	probably benign	Het
Rfc4	A	T	16: 22,939,693 (GRCm39)	S86T	probably damaging	Het
Rfx6	T	A	10: 51,587,962 (GRCm39)	N277K	possibly damaging	Het
Ryr2	C	A	13: 11,807,575 (GRCm39)	V865F	possibly damaging	Het
Skint4	T	A	4: 111,977,019 (GRCm39)		probably null	Het
Slc38a10	T	C	11: 120,023,669 (GRCm39)	Y249C	probably damaging	Het
Slco1b2	A	G	6: 141,603,236 (GRCm39)	T206A	probably benign	Het
Slco3a1	C	T	7: 73,968,254 (GRCm39)	D489N	probably benign	Het
Tasor2	C	T	13: 3,631,891 (GRCm39)	R870H	possibly damaging	Het
Tbc1d1	C	T	5: 64,441,380 (GRCm39)	L655F	probably damaging	Het
Tpp2	A	T	1: 43,979,306 (GRCm39)	I68F	probably damaging	Het
Zfp827	G	T	8: 79,803,067 (GRCm39)	K546N	possibly 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
R5777:Trim30c	UTSW	7	104,032,538 (GRCm39)	missense	probably benign	0.08
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'- TCAGCATATACTCTCACAGAAATGG -3'
(R):5'- ACCGGGAAGCTTGTACTCTC -3'

Sequencing Primer
(F):5'- CTCTCACAGAAATGGATTCTATAGC -3'
(R):5'- GGAAGCTTGTACTCTCTCATTTTATG -3'

Posted On

2017-08-16