Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00780:Trim43c'

14575

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trim43c

Ensembl Gene

ENSMUSG00000067399

Gene Name

tripartite motif-containing 43C

Synonyms

Trim43

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

IGL00780

Quality Score

Status

Chromosome

Chromosomal Location

88839164-88848190 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88841856 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 145 (D145V)

Ref Sequence

ENSEMBL: ENSMUSP00000139715 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163255] [ENSMUST00000186363]

Predicted Effect

probably benign
Transcript: ENSMUST00000163255
AA Change: D145V

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000129255
Gene: ENSMUSG00000067399
AA Change: D145V

Domain	Start	End	E-Value	Type
RING	16	56	3.34e-6	SMART
PDB:2IWG\|E	329	446	3e-15	PDB
Blast:SPRY	336	441	3e-20	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180712

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180783

Predicted Effect

probably benign
Transcript: ENSMUST00000186363
AA Change: D145V

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000139715
Gene: ENSMUSG00000067399
AA Change: D145V

Domain	Start	End	E-Value	Type
RING	16	56	1.6e-8	SMART
SPRY	334	445	6e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188156

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	A	G	5: 9,422,367	T355A	probably damaging	Het
Abi3bp	A	G	16: 56,602,805	D440G	probably null	Het
Acvrl1	T	A	15: 101,137,367	F258Y	probably damaging	Het
Ano1	A	G	7: 144,655,630	S278P	probably damaging	Het
AW146154	T	C	7: 41,480,459	Y411C	probably damaging	Het
Blnk	T	A	19: 40,934,446	K412M	probably benign	Het
Clpb	C	T	7: 101,778,608	R387*	probably null	Het
Dach1	A	T	14: 97,901,422	N528K	possibly damaging	Het
Dag1	A	T	9: 108,209,619	W108R	probably damaging	Het
Fbn2	T	C	18: 58,095,988	T717A	probably damaging	Het
Fnbp1l	T	C	3: 122,549,249	D394G	possibly damaging	Het
Gaa	T	A	11: 119,274,291		probably null	Het
Gpr158	A	T	2: 21,826,818	K910*	probably null	Het
Grb14	G	A	2: 64,914,718	P99S	probably damaging	Het
Gtf2h2	T	C	13: 100,479,221	D264G	probably benign	Het
Heatr3	A	G	8: 88,170,940	I667V	probably benign	Het
Hsp90ab1	T	C	17: 45,569,564	N407S	probably damaging	Het
Htr2a	A	T	14: 74,706,205	L408F	possibly damaging	Het
Itgb5	G	A	16: 33,884,975	V212I	probably damaging	Het
Kmt2c	G	A	5: 25,311,051	T2598I	probably benign	Het
Lcorl	T	C	5: 45,747,295	N137S	probably damaging	Het
Lef1	T	C	3: 131,193,130	F212L	possibly damaging	Het
Map2k5	T	C	9: 63,281,077		probably benign	Het
Med15	G	A	16: 17,653,487	T642I	probably damaging	Het
Nasp	C	A	4: 116,603,999	E274*	probably null	Het
Nup210l	A	T	3: 90,190,849		probably benign	Het
Pgghg	T	C	7: 140,945,351		probably null	Het
Plpp1	A	G	13: 112,851,506	I54M	probably damaging	Het
Poldip3	C	T	15: 83,138,479	G35R	probably damaging	Het
Ppig	A	T	2: 69,732,924	E81D	possibly damaging	Het
Ptpn21	G	T	12: 98,680,371	T999K	probably damaging	Het
Rad9b	T	C	5: 122,344,247	I142V	probably benign	Het
Ralgps1	A	T	2: 33,273,627	H139Q	probably damaging	Het
Rdh16f2	T	C	10: 127,875,092		probably null	Het
Sema3d	G	A	5: 12,524,326	R265Q	probably damaging	Het
Svs1	A	G	6: 48,987,739	D227G	probably damaging	Het
Tdp1	T	C	12: 99,893,648	V198A	possibly damaging	Het
Trpc4	C	T	3: 54,302,175	P654S	probably damaging	Het
Yy1	T	G	12: 108,815,537	I376S	probably damaging	Het
Zfp773	T	A	7: 7,133,114	Q161L	probably benign	Het

Other mutations in Trim43c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02414:Trim43c	APN	9	88841832	critical splice acceptor site	probably null
R0054:Trim43c	UTSW	9	88847515	missense	probably damaging	1.00
R0765:Trim43c	UTSW	9	88841916	missense	probably benign	0.28
R0862:Trim43c	UTSW	9	88843034	missense	probably benign	0.01
R0864:Trim43c	UTSW	9	88843034	missense	probably benign	0.01
R1117:Trim43c	UTSW	9	88844977	missense	probably benign	0.20
R1222:Trim43c	UTSW	9	88843078	missense	possibly damaging	0.70
R1643:Trim43c	UTSW	9	88847477	missense	probably damaging	0.97
R1691:Trim43c	UTSW	9	88840699	missense	probably damaging	0.98
R1914:Trim43c	UTSW	9	88840617	missense	probably benign	0.01
R3718:Trim43c	UTSW	9	88844977	missense	probably benign	0.20
R3772:Trim43c	UTSW	9	88847757	missense	probably damaging	1.00
R3852:Trim43c	UTSW	9	88840401	missense	probably damaging	1.00
R4774:Trim43c	UTSW	9	88847652	missense	possibly damaging	0.48
R5784:Trim43c	UTSW	9	88847643	missense	probably benign	0.03
R5833:Trim43c	UTSW	9	88843037	missense	possibly damaging	0.74
R6177:Trim43c	UTSW	9	88840547	missense	possibly damaging	0.50
R6407:Trim43c	UTSW	9	88840414	missense	probably benign
R6490:Trim43c	UTSW	9	88844950	missense	possibly damaging	0.50
R6892:Trim43c	UTSW	9	88844924	missense	probably benign	0.35
R8050:Trim43c	UTSW	9	88840337	missense	probably damaging	0.99
Z1088:Trim43c	UTSW	9	88842935	critical splice acceptor site	probably null

Posted On

2012-12-06