Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02262:Trim30b'

286775

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trim30b

Ensembl Gene

ENSMUSG00000052749

Gene Name

tripartite motif-containing 30B

Synonyms

Trim30-1, A530023O14Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02262

Quality Score

Status

Chromosome

Chromosomal Location

104355382-104369884 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 104365900 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 94 (V94M)

Ref Sequence

ENSEMBL: ENSMUSP00000131747 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106831] [ENSMUST00000164410]

Predicted Effect

probably benign
Transcript: ENSMUST00000106831
AA Change: V94M

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000102444
Gene: ENSMUSG00000052749
AA Change: V94M

Domain	Start	End	E-Value	Type
RING	15	59	4.37e-10	SMART
BBOX	92	133	2.82e-13	SMART
coiled coil region	138	228	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145982

Predicted Effect

probably damaging
Transcript: ENSMUST00000164410
AA Change: V94M

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131747
Gene: ENSMUSG00000052749
AA Change: V94M

Domain	Start	End	E-Value	Type
RING	15	59	4.37e-10	SMART
BBOX	92	133	2.82e-13	SMART
coiled coil region	138	171	N/A	INTRINSIC
low complexity region	190	199	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	G	T	10: 14,441,396	A560E	probably benign	Het
Apol7c	A	T	15: 77,525,813	M311K	probably benign	Het
Arap2	A	C	5: 62,642,841	V1281G	probably damaging	Het
Cacna1s	C	T	1: 136,108,129	T1388I	probably damaging	Het
Dcaf13	T	C	15: 39,118,707		probably benign	Het
Dscaml1	G	A	9: 45,745,116	G1585S	probably benign	Het
Dscaml1	G	A	9: 45,732,080	V1266I	probably benign	Het
Epc1	A	G	18: 6,437,278	L750P	probably damaging	Het
Fgd6	T	A	10: 94,125,628	M1108K	probably damaging	Het
Gm14496	T	C	2: 181,996,012	I293T	probably damaging	Het
Gm21759	T	C	5: 8,180,747		probably benign	Het
Igkv3-10	A	T	6: 70,573,170	D100V	possibly damaging	Het
Ipo13	A	C	4: 117,903,813	I569M	probably damaging	Het
Itgb4	G	A	11: 115,988,926	V635I	probably damaging	Het
Kif26b	A	G	1: 178,916,068	Y1243C	probably benign	Het
Map3k12	T	C	15: 102,502,075	E489G	probably damaging	Het
Nrxn1	A	G	17: 90,704,208	V331A	probably damaging	Het
Ntrk1	G	A	3: 87,781,797	L529F	probably damaging	Het
Obscn	A	T	11: 59,028,533	C6882S	possibly damaging	Het
Olfr126	A	C	17: 37,851,263	T224P	probably damaging	Het
Olfr912	C	T	9: 38,581,513	P79S	probably damaging	Het
Ppp1r13b	C	A	12: 111,835,211	L346F	possibly damaging	Het
Psg22	T	C	7: 18,724,571	S396P	probably damaging	Het
Rbm19	A	G	5: 120,143,405	E797G	probably damaging	Het
Ros1	T	G	10: 52,178,969	D79A	probably damaging	Het
Scn10a	C	T	9: 119,658,433	V612I	possibly damaging	Het
Sema4c	A	G	1: 36,550,341	V568A	probably damaging	Het
Soga1	A	T	2: 157,030,906	V895E	probably damaging	Het
Traf5	A	G	1: 191,997,675	F472L	probably damaging	Het
Wasl	A	T	6: 24,619,187	S445T	unknown	Het
Zfp541	A	G	7: 16,079,695	K758E	probably damaging	Het

Other mutations in Trim30b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01701:Trim30b	APN	7	104366051	nonsense	probably null
IGL03297:Trim30b	APN	7	104365895	missense	probably benign	0.40
R0078:Trim30b	UTSW	7	104365895	missense	probably benign	0.40
R0416:Trim30b	UTSW	7	104363766	missense	probably benign	0.08
R0511:Trim30b	UTSW	7	104365803	missense	possibly damaging	0.91
R0555:Trim30b	UTSW	7	104357298	missense	possibly damaging	0.73
R0609:Trim30b	UTSW	7	104357976	start gained	probably benign
R1317:Trim30b	UTSW	7	104357335	missense	possibly damaging	0.90
R1318:Trim30b	UTSW	7	104357335	missense	possibly damaging	0.90
R1528:Trim30b	UTSW	7	104357299	missense	possibly damaging	0.73
R1603:Trim30b	UTSW	7	104365812	missense	possibly damaging	0.70
R3859:Trim30b	UTSW	7	104357280	missense	probably benign	0.00
R4052:Trim30b	UTSW	7	104357478	missense	possibly damaging	0.64
R4576:Trim30b	UTSW	7	104357331	missense	possibly damaging	0.75
R4577:Trim30b	UTSW	7	104357331	missense	possibly damaging	0.75
R4578:Trim30b	UTSW	7	104357331	missense	possibly damaging	0.75
R5705:Trim30b	UTSW	7	104357577	missense	probably damaging	1.00
R5753:Trim30b	UTSW	7	104357337	missense	possibly damaging	0.89
R5846:Trim30b	UTSW	7	104357371	missense	possibly damaging	0.94
R5914:Trim30b	UTSW	7	104357365	missense	probably damaging	0.98
R6083:Trim30b	UTSW	7	104366142	missense	probably damaging	0.98
R6862:Trim30b	UTSW	7	104363753	missense	probably damaging	0.98
R7216:Trim30b	UTSW	7	104357362	missense	probably benign	0.22
R8062:Trim30b	UTSW	7	104366186	start gained	probably benign
Z1088:Trim30b	UTSW	7	104366100	missense	probably damaging	1.00

Posted On

2015-04-16