Mutagenetix > Incidental Mutation

Incidental Mutation 'R6531:Trim43b'

522357

Institutional Source

Beutler Lab

Gene Symbol

Trim43b

Ensembl Gene

ENSMUSG00000079162

Gene Name

tripartite motif-containing 43B

Synonyms

Gm8269

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R6531 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89084624-89092835 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89085365 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 405 (L405H)

Ref Sequence

ENSEMBL: ENSMUSP00000139457 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000167113] [ENSMUST00000189557]

AlphaFold

P86448

Predicted Effect

probably damaging
Transcript: ENSMUST00000167113
AA Change: L406H

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

SMART Domains

Protein: ENSMUSP00000126594
Gene: ENSMUSG00000079162
AA Change: L406H

Domain	Start	End	E-Value	Type
RING	16	56	9.6e-7	SMART
Blast:BBOX	88	129	4e-8	BLAST
PDB:2VOK\|B	329	445	3e-15	PDB
Blast:SPRY	336	441	9e-20	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000189557
AA Change: L405H

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

SMART Domains

Protein: ENSMUSP00000139457
Gene: ENSMUSG00000079162
AA Change: L405H

Domain	Start	End	E-Value	Type
RING	16	56	4.7e-9	SMART
Blast:BBOX	88	129	4e-8	BLAST
SPRY	334	444	8.1e-5	SMART

Meta Mutation Damage Score

0.7385

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.2%
20x: 90.6%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,949,999	E880G	possibly damaging	Het
Acsbg2	T	A	17: 56,846,617	I529F	probably damaging	Het
Ahcyl2	T	G	6: 29,886,162	M359R	probably benign	Het
Aldh5a1	G	T	13: 24,918,564	D305E	probably benign	Het
Catsper2	C	G	2: 121,399,780	V358L	possibly damaging	Het
Cd200r4	C	T	16: 44,833,505	Q222*	probably null	Het
Col4a2	T	A	8: 11,408,135	D270E	probably benign	Het
Cux1	T	C	5: 136,275,119	D1401G	probably benign	Het
Cyp3a59	T	A	5: 146,098,217	M235K	probably benign	Het
Dock3	T	C	9: 106,967,216	D895G	probably benign	Het
Dusp27	A	T	1: 166,110,046		probably null	Het
Dync1h1	T	C	12: 110,617,920	F586L	probably damaging	Het
Elmo1	G	T	13: 20,572,446	R568L	possibly damaging	Het
Epb41	T	C	4: 131,957,636	T711A	probably benign	Het
Grm7	T	A	6: 111,358,425	M599K	probably benign	Het
Hivep3	A	T	4: 120,122,876	K1704*	probably null	Het
Ighv1-62-3	C	A	12: 115,461,006	C115F	probably damaging	Het
Krt78	A	G	15: 101,952,273	Y200H	probably benign	Het
Lamb2	A	T	9: 108,483,726	H549L	possibly damaging	Het
Mroh3	A	G	1: 136,184,353	I759T	probably benign	Het
Ncbp2	CGTCTGGATG	CG	16: 31,956,343		probably null	Het
Nol6	G	T	4: 41,118,154	P828T	probably benign	Het
Olfr1030	A	G	2: 85,984,307	I156V	probably benign	Het
Olfr1132	A	G	2: 87,635,529	Y73H	probably damaging	Het
Olfr1264	A	G	2: 90,021,457	V203A	probably benign	Het
Olfr344	G	A	2: 36,569,341	V248I	probably damaging	Het
Ovgp1	A	C	3: 105,987,071		probably benign	Het
Pitpnm3	T	A	11: 72,071,487	Q230L	possibly damaging	Het
Pkn1	C	T	8: 83,670,293	V910I	probably benign	Het
Plcb1	T	A	2: 135,325,802		probably null	Het
Ppp1r12c	A	G	7: 4,482,789		probably null	Het
Rassf5	T	A	1: 131,244,814	Q106L	possibly damaging	Het
Rfc1	T	C	5: 65,312,979	K62E	possibly damaging	Het
Sf3b1	C	T	1: 55,019,395	E12K	probably damaging	Het
Slc4a1ap	A	T	5: 31,548,638	D691V	probably benign	Het
Speg	T	A	1: 75,422,757	F2283I	probably benign	Het
Synj2	A	G	17: 6,033,839	K267E	probably damaging	Het
Tg	A	T	15: 66,839,362	Y991F	probably damaging	Het
Tlk1	A	T	2: 70,742,083	D380E	probably benign	Het
Ttf2	A	G	3: 100,956,260	I586T	probably damaging	Het
Ugt2b36	T	A	5: 87,081,586	R213S	probably damaging	Het
Vmn1r198	T	A	13: 22,354,407	M21K	probably benign	Het
Wdr35	A	T	12: 8,978,685	Y101F	probably benign	Het
Zfp367	T	C	13: 64,144,250	Y189C	probably damaging	Het

Other mutations in Trim43b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Trim43b	APN	9	89091642	missense	probably benign	0.04
IGL01953:Trim43b	APN	9	89085443	missense	possibly damaging	0.74
IGL02160:Trim43b	APN	9	89091630	missense	probably benign	0.35
IGL02626:Trim43b	APN	9	89085488	missense	possibly damaging	0.89
IGL03199:Trim43b	APN	9	89089428	missense	probably damaging	0.98
R0477:Trim43b	UTSW	9	89090601	missense	probably damaging	1.00
R1345:Trim43b	UTSW	9	89085672	missense	possibly damaging	0.77
R1491:Trim43b	UTSW	9	89087612	missense	possibly damaging	0.52
R1536:Trim43b	UTSW	9	89085358	nonsense	probably null
R1862:Trim43b	UTSW	9	89085571	missense	probably damaging	1.00
R2211:Trim43b	UTSW	9	89085249	missense	possibly damaging	0.91
R4039:Trim43b	UTSW	9	89091347	missense	probably damaging	1.00
R4222:Trim43b	UTSW	9	89090639	missense	probably benign	0.00
R4223:Trim43b	UTSW	9	89090639	missense	probably benign	0.00
R4224:Trim43b	UTSW	9	89090639	missense	probably benign	0.00
R4726:Trim43b	UTSW	9	89089485	missense	possibly damaging	0.70
R4812:Trim43b	UTSW	9	89091480	missense	probably benign	0.05
R4887:Trim43b	UTSW	9	89091312	missense	probably damaging	0.99
R5865:Trim43b	UTSW	9	89085606	missense	probably benign	0.19
R5909:Trim43b	UTSW	9	89085398	missense	possibly damaging	0.94
R6226:Trim43b	UTSW	9	89091275	missense	possibly damaging	0.82
R6378:Trim43b	UTSW	9	89085399	missense	probably benign	0.08
R7114:Trim43b	UTSW	9	89085608	missense	probably benign	0.04
R7946:Trim43b	UTSW	9	89091485	missense	probably damaging	0.98
R7972:Trim43b	UTSW	9	89091308	missense	probably damaging	1.00
R8270:Trim43b	UTSW	9	89085405	missense	possibly damaging	0.77
R8887:Trim43b	UTSW	9	89087589	missense	probably benign	0.04
R9142:Trim43b	UTSW	9	89091399	missense	possibly damaging	0.77
R9223:Trim43b	UTSW	9	89085610	missense	probably benign	0.41
R9370:Trim43b	UTSW	9	89089506	missense	probably benign	0.39
R9375:Trim43b	UTSW	9	89085566	missense	probably damaging	1.00
R9381:Trim43b	UTSW	9	89087589	missense	probably benign	0.04
R9451:Trim43b	UTSW	9	89091555	missense	possibly damaging	0.95
R9660:Trim43b	UTSW	9	89091342	missense	probably benign	0.14
R9728:Trim43b	UTSW	9	89091342	missense	probably benign	0.14
R9751:Trim43b	UTSW	9	89089517	missense	probably benign	0.04
R9769:Trim43b	UTSW	9	89085405	missense	possibly damaging	0.59
V5622:Trim43b	UTSW	9	89092545	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- GGGGACACATTATCATAGAAGTACTAG -3'
(R):5'- GCTTCTCCAGGGGAAAATACTACTG -3'

Sequencing Primer
(F):5'- GAAAAGCACTAGCATACTGGATTC -3'
(R):5'- AAATACTACTGGGAGGTGGATTTG -3'

Posted On

2018-06-06