Mutagenetix > Incidental Mutation

Incidental Mutation 'R5705:Trim30b'

451922

Institutional Source

Beutler Lab

Gene Symbol

Trim30b

Ensembl Gene

ENSMUSG00000052749

Gene Name

tripartite motif-containing 30B

Synonyms

A530023O14Rik, Trim30-1

MMRRC Submission

043330-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5705 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104004605-104007853 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104006784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 24 (Y24F)

Ref Sequence

ENSEMBL: ENSMUSP00000131288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059037] [ENSMUST00000106831] [ENSMUST00000130139] [ENSMUST00000164410] [ENSMUST00000171830]

AlphaFold

E9PVL6

Predicted Effect

probably benign
Transcript: ENSMUST00000059037

SMART Domains

Protein: ENSMUSP00000060100
Gene: ENSMUSG00000057143

Domain	Start	End	E-Value	Type
RING	15	58	5.51e-7	SMART
BBOX	91	132	4.83e-12	SMART
low complexity region	196	209	N/A	INTRINSIC
Pfam:SPRY	351	493	8.7e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106831

SMART Domains

Protein: ENSMUSP00000102444
Gene: ENSMUSG00000052749

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

probably benign
Transcript: ENSMUST00000130139

SMART Domains

Protein: ENSMUSP00000116775
Gene: ENSMUSG00000057143

Domain	Start	End	E-Value	Type
RING	15	58	5.51e-7	SMART
BBOX	91	132	4.83e-12	SMART
low complexity region	196	209	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145982

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155961

Predicted Effect

probably benign
Transcript: ENSMUST00000164410

SMART Domains

Protein: ENSMUSP00000131747
Gene: ENSMUSG00000052749

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000171830
AA Change: Y24F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000131288
Gene: ENSMUSG00000052749
AA Change: Y24F

Domain	Start	End	E-Value	Type
PDB:3UV9\|A	1	132	5e-9	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209729

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,851,276 (GRCm39)	V2163A	probably benign	Het
Abcg3	G	A	5: 105,116,036 (GRCm39)	A266V	probably damaging	Het
Ago1	T	C	4: 126,342,587 (GRCm39)	I519V	probably benign	Het
Arhgap4	G	A	X: 72,950,423 (GRCm39)	R43W	probably damaging	Het
Aurkb	T	A	11: 68,939,641 (GRCm39)	L213I	possibly damaging	Het
Bod1l	T	A	5: 41,974,345 (GRCm39)	Q2323L	probably benign	Het
Calhm5	A	T	10: 33,971,989 (GRCm39)	C149S	probably damaging	Het
Ccdc17	C	T	4: 116,454,066 (GRCm39)	T28I	probably benign	Het
Ccdc39	T	C	3: 33,871,086 (GRCm39)	E630G	probably damaging	Het
Cnih4	A	G	1: 180,981,300 (GRCm39)	I24V	probably benign	Het
Ctse	C	A	1: 131,592,112 (GRCm39)	T146K	possibly damaging	Het
Ctsr	A	G	13: 61,309,078 (GRCm39)	F226L	probably damaging	Het
Cyp2a22	T	C	7: 26,638,640 (GRCm39)	N49D	probably benign	Het
Defb23	C	T	2: 152,301,204 (GRCm39)	A123T	probably benign	Het
Dtx2	C	A	5: 136,039,149 (GRCm39)	D69E	probably damaging	Het
Eps8l1	T	C	7: 4,473,034 (GRCm39)	V91A	probably benign	Het
Eps8l3	C	A	3: 107,798,580 (GRCm39)	Q489K	probably benign	Het
Esyt3	A	G	9: 99,200,260 (GRCm39)	S645P	probably benign	Het
Fam161a	T	A	11: 22,978,869 (GRCm39)	M472K	unknown	Het
Glp2r	A	G	11: 67,600,565 (GRCm39)	V428A	probably benign	Het
Gnl1	G	A	17: 36,292,492 (GRCm39)	V191I	probably benign	Het
Hfm1	T	C	5: 107,059,319 (GRCm39)	I234M	probably benign	Het
Hlx	T	C	1: 184,463,062 (GRCm39)	T197A	probably benign	Het
Hs3st2	T	C	7: 120,992,305 (GRCm39)	L85P	probably damaging	Het
Igsf9	T	C	1: 172,322,338 (GRCm39)	V511A	possibly damaging	Het
Insyn2b	A	G	11: 34,354,349 (GRCm39)	Y473C	probably damaging	Het
Kcnma1	A	T	14: 24,053,839 (GRCm39)	C54S	possibly damaging	Het
Klhdc4	A	G	8: 122,531,732 (GRCm39)	V181A	probably benign	Het
Ldb3	T	C	14: 34,298,986 (GRCm39)	M213V	probably null	Het
Mertk	C	A	2: 128,613,321 (GRCm39)	Q446K	probably benign	Het
Ndufs1	A	G	1: 63,186,317 (GRCm39)	V46A	probably benign	Het
Neurod4	A	G	10: 130,107,271 (GRCm39)	M1T	probably null	Het
Nlrc5	T	A	8: 95,202,385 (GRCm39)	C162S	probably benign	Het
Pald1	A	G	10: 61,159,076 (GRCm39)	I785T	possibly damaging	Het
Pcmt1	T	C	10: 7,513,954 (GRCm39)	I224M	possibly damaging	Het
Pisd	C	T	5: 32,894,707 (GRCm39)	R533H	probably benign	Het
Plcxd3	C	A	15: 4,546,676 (GRCm39)	Q227K	probably benign	Het
Polr1b	A	T	2: 128,947,271 (GRCm39)	K199*	probably null	Het
Ppp1r10	T	C	17: 36,240,381 (GRCm39)	V557A	probably damaging	Het
Ralgapa2	A	G	2: 146,291,193 (GRCm39)	Y248H	probably damaging	Het
Rsrp1	T	C	4: 134,651,331 (GRCm39)	S32P	unknown	Het
Setdb2	T	G	14: 59,660,814 (GRCm39)	S110R	possibly damaging	Het
Srcin1	A	G	11: 97,439,777 (GRCm39)	C152R	probably benign	Het
Syk	A	G	13: 52,765,083 (GRCm39)	N70S	probably benign	Het
Tlr4	T	A	4: 66,752,217 (GRCm39)	D59E	probably damaging	Het
Tm9sf4	T	A	2: 153,024,378 (GRCm39)	I67N	probably benign	Het
Tsga13	A	G	6: 30,876,951 (GRCm39)	S189P	probably damaging	Het
Tspan33	A	G	6: 29,717,232 (GRCm39)	D210G	probably benign	Het
Use1	G	T	8: 71,822,331 (GRCm39)	R278L	probably damaging	Het
Wwc1	T	C	11: 35,767,423 (GRCm39)	N403D	probably damaging	Het
Zfp263	C	T	16: 3,564,318 (GRCm39)	P203S	probably benign	Het

Other mutations in Trim30b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01701:Trim30b	APN	7	104,015,258 (GRCm39)	nonsense	probably null
IGL02262:Trim30b	APN	7	104,015,107 (GRCm39)	missense	probably damaging	0.99
IGL03297:Trim30b	APN	7	104,015,102 (GRCm39)	missense	probably benign	0.40
R0078:Trim30b	UTSW	7	104,015,102 (GRCm39)	missense	probably benign	0.40
R0416:Trim30b	UTSW	7	104,012,973 (GRCm39)	missense	probably benign	0.08
R0511:Trim30b	UTSW	7	104,015,010 (GRCm39)	missense	possibly damaging	0.91
R0555:Trim30b	UTSW	7	104,006,505 (GRCm39)	missense	possibly damaging	0.73
R0609:Trim30b	UTSW	7	104,007,183 (GRCm39)	start gained	probably benign
R1317:Trim30b	UTSW	7	104,006,542 (GRCm39)	missense	possibly damaging	0.90
R1318:Trim30b	UTSW	7	104,006,542 (GRCm39)	missense	possibly damaging	0.90
R1528:Trim30b	UTSW	7	104,006,506 (GRCm39)	missense	possibly damaging	0.73
R1603:Trim30b	UTSW	7	104,015,019 (GRCm39)	missense	possibly damaging	0.70
R3859:Trim30b	UTSW	7	104,006,487 (GRCm39)	missense	probably benign	0.00
R4052:Trim30b	UTSW	7	104,006,685 (GRCm39)	missense	possibly damaging	0.64
R4576:Trim30b	UTSW	7	104,006,538 (GRCm39)	missense	possibly damaging	0.75
R4577:Trim30b	UTSW	7	104,006,538 (GRCm39)	missense	possibly damaging	0.75
R4578:Trim30b	UTSW	7	104,006,538 (GRCm39)	missense	possibly damaging	0.75
R5753:Trim30b	UTSW	7	104,006,544 (GRCm39)	missense	possibly damaging	0.89
R5846:Trim30b	UTSW	7	104,006,578 (GRCm39)	missense	possibly damaging	0.94
R5914:Trim30b	UTSW	7	104,006,572 (GRCm39)	missense	probably damaging	0.98
R6083:Trim30b	UTSW	7	104,015,349 (GRCm39)	missense	probably damaging	0.98
R6862:Trim30b	UTSW	7	104,012,960 (GRCm39)	missense	probably damaging	0.98
R7216:Trim30b	UTSW	7	104,006,569 (GRCm39)	missense	probably benign	0.22
R8062:Trim30b	UTSW	7	104,015,393 (GRCm39)	start gained	probably benign
R8516:Trim30b	UTSW	7	104,006,611 (GRCm39)	missense	probably benign	0.00
R8552:Trim30b	UTSW	7	104,015,236 (GRCm39)	missense	probably benign	0.01
R8824:Trim30b	UTSW	7	104,007,113 (GRCm39)	start gained	probably benign
Z1088:Trim30b	UTSW	7	104,015,307 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGACAGGACACTTATCAAAGGC -3'
(R):5'- ACTCTGCACAGCAATCTGCC -3'

Sequencing Primer
(F):5'- GGACACTTATCAAAGGCATATACAG -3'
(R):5'- GCCTCTGCTTGATTTAAACACGG -3'

Posted On

2017-01-03