Mutagenetix > Incidental Mutation

Incidental Mutation 'R6892:Trim43c'

538112

Institutional Source

Beutler Lab

Gene Symbol

Trim43c

Ensembl Gene

ENSMUSG00000067399

Gene Name

tripartite motif-containing 43C

Synonyms

Trim43

MMRRC Submission

044986-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R6892 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88721217-88730243 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88726977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 267 (M267K)

Ref Sequence

ENSEMBL: ENSMUSP00000139715 (fasta)

Gene Model

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

AlphaFold

P86449

Predicted Effect

probably benign
Transcript: ENSMUST00000163255
AA Change: M268K

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000129255
Gene: ENSMUSG00000067399
AA Change: M268K

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

probably benign
Transcript: ENSMUST00000186363
AA Change: M267K

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000139715
Gene: ENSMUSG00000067399
AA Change: M267K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.6%

Validation Efficiency

96% (54/56)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930442H23Rik	C	A	10: 81,018,978 (GRCm39)		probably benign	Het
4933421I07Rik	T	C	7: 42,095,831 (GRCm39)	Q139R	probably benign	Het
A930002H24Rik	C	T	17: 64,170,759 (GRCm39)	V10M	unknown	Het
Acvr2a	T	A	2: 48,787,087 (GRCm39)	L394Q	probably damaging	Het
Ano6	T	C	15: 95,865,505 (GRCm39)	Y830H	probably damaging	Het
Atp8b4	T	A	2: 126,184,922 (GRCm39)	I914F	possibly damaging	Het
Bltp3b	G	A	10: 89,640,985 (GRCm39)	V719I	probably benign	Het
Cab39	A	G	1: 85,776,098 (GRCm39)	D265G	probably damaging	Het
Capn5	A	T	7: 97,785,148 (GRCm39)	W109R	probably damaging	Het
Cdk18	G	T	1: 132,049,848 (GRCm39)	T44K	probably benign	Het
Cdt1	T	A	8: 123,296,951 (GRCm39)	N248K	probably damaging	Het
Cpa4	G	T	6: 30,583,628 (GRCm39)	R248L	probably benign	Het
Cpt1a	G	A	19: 3,421,660 (GRCm39)	V481M	probably benign	Het
Cyp3a11	G	A	5: 145,797,258 (GRCm39)	L374F	probably damaging	Het
Dcdc2a	A	G	13: 25,240,443 (GRCm39)	N64D	probably damaging	Het
Dmxl1	G	A	18: 50,053,969 (GRCm39)	R2525Q	probably damaging	Het
Dscaml1	G	A	9: 45,595,128 (GRCm39)	V744M	probably damaging	Het
Dync1h1	G	A	12: 110,605,335 (GRCm39)	E2391K	probably benign	Het
Ezh1	A	T	11: 101,090,187 (GRCm39)	Y522*	probably null	Het
Fzd3	G	C	14: 65,447,330 (GRCm39)	A533G	possibly damaging	Het
Gm14403	T	G	2: 177,201,040 (GRCm39)	C329G	probably damaging	Het
Gm17067	A	C	7: 42,360,099 (GRCm39)		probably null	Het
Gm38119	A	G	3: 92,645,529 (GRCm39)	C22R	unknown	Het
Grep1	A	G	17: 23,931,328 (GRCm39)	L193P	probably damaging	Het
Gtf3c3	A	G	1: 54,455,100 (GRCm39)	S588P	probably benign	Het
Ift140	A	G	17: 25,239,520 (GRCm39)	E59G	possibly damaging	Het
Ints1	A	T	5: 139,753,583 (GRCm39)	M683K	probably damaging	Het
Iws1	A	G	18: 32,219,327 (GRCm39)	M470V	probably damaging	Het
Mptx1	A	G	1: 174,159,831 (GRCm39)	R46G	probably benign	Het
Nhsl1	C	T	10: 18,400,091 (GRCm39)	T439I	probably damaging	Het
Or10a49	A	G	7: 108,467,722 (GRCm39)	L213P	probably damaging	Het
Peg3	C	T	7: 6,711,898 (GRCm39)	S1108N	possibly damaging	Het
Pgm1	A	G	4: 99,786,905 (GRCm39)	E48G	probably benign	Het
Pkhd1	G	A	1: 20,593,739 (GRCm39)	T1458I	probably damaging	Het
Polr1a	A	T	6: 71,941,696 (GRCm39)	D1068V	possibly damaging	Het
Ptprq	T	C	10: 107,411,865 (GRCm39)	T1834A	probably benign	Het
Rapgef1	T	C	2: 29,589,852 (GRCm39)		probably null	Het
Rgl1	A	T	1: 152,415,691 (GRCm39)	D409E	probably benign	Het
Rgsl1	G	T	1: 153,697,245 (GRCm39)	Y558*	probably null	Het
Rock1	C	T	18: 10,122,612 (GRCm39)	R403H	probably benign	Het
Scn11a	T	A	9: 119,636,035 (GRCm39)	D304V	possibly damaging	Het
Sdk1	A	T	5: 142,032,053 (GRCm39)	I1043F	probably benign	Het
Sgms2	A	G	3: 131,135,803 (GRCm39)	Y24H	probably benign	Het
Sppl2a	A	G	2: 126,755,495 (GRCm39)	I372T	probably damaging	Het
Sptbn1	A	G	11: 30,092,187 (GRCm39)	M526T	probably benign	Het
Stxbp5l	A	T	16: 37,008,991 (GRCm39)	S683T	possibly damaging	Het
Syk	A	T	13: 52,786,934 (GRCm39)	R332S	probably benign	Het
Syne2	T	A	12: 76,009,302 (GRCm39)	V2401E	probably damaging	Het
Tarm1	T	C	7: 3,546,006 (GRCm39)	Y87C	probably damaging	Het
Tbc1d22b	A	G	17: 29,814,864 (GRCm39)	K378E	possibly damaging	Het
Tcte1	A	G	17: 45,844,083 (GRCm39)	T20A	probably benign	Het
Tor1aip2	A	T	1: 155,940,927 (GRCm39)	Y411F	possibly damaging	Het
Ubr2	T	G	17: 47,245,034 (GRCm39)	Y1664S	probably damaging	Het
Vmn1r41	C	A	6: 89,724,163 (GRCm39)	Q235K	possibly damaging	Het
Wdr17	T	C	8: 55,126,631 (GRCm39)	T401A	probably damaging	Het
Zfp454	A	G	11: 50,764,025 (GRCm39)	L469P	probably damaging	Het

Other mutations in Trim43c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Trim43c	APN	9	88,723,909 (GRCm39)	missense	probably benign	0.20
IGL02414:Trim43c	APN	9	88,723,885 (GRCm39)	critical splice acceptor site	probably null
R0054:Trim43c	UTSW	9	88,729,568 (GRCm39)	missense	probably damaging	1.00
R0765:Trim43c	UTSW	9	88,723,969 (GRCm39)	missense	probably benign	0.28
R0862:Trim43c	UTSW	9	88,725,087 (GRCm39)	missense	probably benign	0.01
R0864:Trim43c	UTSW	9	88,725,087 (GRCm39)	missense	probably benign	0.01
R1117:Trim43c	UTSW	9	88,727,030 (GRCm39)	missense	probably benign	0.20
R1222:Trim43c	UTSW	9	88,725,131 (GRCm39)	missense	possibly damaging	0.70
R1643:Trim43c	UTSW	9	88,729,530 (GRCm39)	missense	probably damaging	0.97
R1691:Trim43c	UTSW	9	88,722,752 (GRCm39)	missense	probably damaging	0.98
R1914:Trim43c	UTSW	9	88,722,670 (GRCm39)	missense	probably benign	0.01
R3718:Trim43c	UTSW	9	88,727,030 (GRCm39)	missense	probably benign	0.20
R3772:Trim43c	UTSW	9	88,729,810 (GRCm39)	missense	probably damaging	1.00
R3852:Trim43c	UTSW	9	88,722,454 (GRCm39)	missense	probably damaging	1.00
R4774:Trim43c	UTSW	9	88,729,705 (GRCm39)	missense	possibly damaging	0.48
R5784:Trim43c	UTSW	9	88,729,696 (GRCm39)	missense	probably benign	0.03
R5833:Trim43c	UTSW	9	88,725,090 (GRCm39)	missense	possibly damaging	0.74
R6177:Trim43c	UTSW	9	88,722,600 (GRCm39)	missense	possibly damaging	0.50
R6407:Trim43c	UTSW	9	88,722,467 (GRCm39)	missense	probably benign
R6490:Trim43c	UTSW	9	88,727,003 (GRCm39)	missense	possibly damaging	0.50
R8050:Trim43c	UTSW	9	88,722,390 (GRCm39)	missense	probably damaging	0.99
R8417:Trim43c	UTSW	9	88,725,191 (GRCm39)	missense	probably benign	0.20
R9276:Trim43c	UTSW	9	88,723,966 (GRCm39)	missense	probably benign
Z1088:Trim43c	UTSW	9	88,724,988 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCAATTTGCTATGAATACCTATGTGAG -3'
(R):5'- GATTACAATGTGGCTTAACTAGACAT -3'

Sequencing Primer
(F):5'- GCTATGAATACCTATGTGAGTGCAC -3'
(R):5'- GGTGGCTCACAACCATCTGTAATG -3'

Posted On

2018-11-06