Mutagenetix > Incidental Mutations

Incidental Mutation 'R0864:Trim43c'

82254

Institutional Source

Beutler Lab

Gene Symbol

Trim43c

Ensembl Gene

ENSMUSG00000067399

Gene Name

tripartite motif-containing 43C

Synonyms

Trim43

MMRRC Submission

039038-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R0864 (G1)

Quality Score

200

Status

Validated

Chromosome

Chromosomal Location

88839164-88848190 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88843034 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 202 (H202L)

Ref Sequence

ENSEMBL: ENSMUSP00000139715 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000163255
AA Change: H203L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000129255
Gene: ENSMUSG00000067399
AA Change: H203L

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: H202L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000139715
Gene: ENSMUSG00000067399
AA Change: H202L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.8%
3x: 99.1%
10x: 97.3%
20x: 93.8%

Validation Efficiency

93% (39/42)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr2a	A	G	2: 48,894,786		probably benign	Het
Alx4	A	G	2: 93,642,855	Y66C	probably damaging	Het
Apol7e	T	A	15: 77,717,793	V197E	probably damaging	Het
Chac1	C	A	2: 119,353,469	A184E	probably damaging	Het
Clmn	G	A	12: 104,790,015	T192I	possibly damaging	Het
Csmd1	T	A	8: 16,190,026	Y1124F	probably damaging	Het
Ctnnbl1	C	T	2: 157,799,417		probably benign	Het
D430041D05Rik	G	A	2: 104,230,428	P1374S	possibly damaging	Het
Dyrk4	T	C	6: 126,877,333	E499G	possibly damaging	Het
Fat1	T	A	8: 45,018,037	I1603N	probably damaging	Het
Fbn1	A	T	2: 125,342,891	C1660*	probably null	Het
Gapt	G	C	13: 110,353,739	T130R	probably damaging	Het
Hpn	T	C	7: 31,109,001	I41V	probably benign	Het
Iqca	C	A	1: 90,142,731	G133V	probably null	Het
Map4	A	G	9: 109,978,969	Y34C	probably damaging	Het
Mapk8	C	T	14: 33,392,992	R189H	probably damaging	Het
Mprip	T	C	11: 59,758,761	V1097A	probably benign	Het
Msh2	A	G	17: 87,680,052	T207A	probably benign	Het
Muc4	A	G	16: 32,752,002	S627G	probably benign	Het
Nbeal2	G	A	9: 110,628,195	T2266I	probably damaging	Het
Pdcd6ip	A	T	9: 113,674,510		probably benign	Het
Pdk2	A	G	11: 95,027,933	Y339H	probably damaging	Het
Piwil2	T	C	14: 70,395,374	D583G	probably benign	Het
Plin4	T	A	17: 56,103,966	M1022L	probably benign	Het
Pmpca	G	A	2: 26,393,209		probably null	Het
Rbbp4	G	T	4: 129,320,551		probably benign	Het
Rbbp8	G	A	18: 11,732,184		probably benign	Het
Rbms3	A	T	9: 117,629,792		probably benign	Het
Snx14	A	T	9: 88,383,996	S726T	possibly damaging	Het
Supt4a	T	A	11: 87,743,087	S88T	probably benign	Het
Tmem245	G	T	4: 56,890,837	H321Q	probably damaging	Het
Trip12	A	G	1: 84,744,009	F1334S	probably damaging	Het
Vmn1r36	T	C	6: 66,716,856	T12A	probably null	Het
Ywhae	T	G	11: 75,759,430		probably null	Het
Zc3h4	T	A	7: 16,420,179	S131T	probably damaging	Het
Zfp280b	C	T	10: 76,038,305	T6M	probably benign	Het

Other mutations in Trim43c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Trim43c	APN	9	88841856	missense	probably benign	0.20
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
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
R8417:Trim43c	UTSW	9	88843138	missense	probably benign	0.20
Z1088:Trim43c	UTSW	9	88842935	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCAGTGTGTGCAGCACTCTGATG -3'
(R):5'- AAAAGCCACAGGTGTGGTCCTC -3'

Sequencing Primer
(F):5'- AGCACTCTGATGGGCTCC -3'
(R):5'- GTGGTCCTCAGATAATGAAGCTC -3'

Posted On

2013-11-08