Mutagenetix > Incidental Mutation

Incidental Mutation 'R9751:Trim43b'

732521

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: 0.081) question?

Stock #

R9751 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88966677-88974888 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88971570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 195 (D195E)

Ref Sequence

ENSEMBL: ENSMUSP00000126594 (fasta)

Gene Model

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

AlphaFold

P86448

Predicted Effect

probably benign
Transcript: ENSMUST00000167113
AA Change: D195E

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000126594
Gene: ENSMUSG00000079162
AA Change: D195E

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 benign
Transcript: ENSMUST00000189557
AA Change: D194E

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000139457
Gene: ENSMUSG00000079162
AA Change: D194E

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,881,126 (GRCm39)	N514D	probably benign	Het
Adgre1	G	A	17: 57,757,101 (GRCm39)	R786H	probably null	Het
Ankrd7	G	A	6: 18,868,024 (GRCm39)	V97I	probably damaging	Het
Bltp1	A	G	3: 37,065,889 (GRCm39)	I54M		Het
Bmper	C	T	9: 23,318,009 (GRCm39)	P543S	possibly damaging	Het
Brwd1	A	T	16: 95,795,015 (GRCm39)	M2233K	possibly damaging	Het
C1s2	G	T	6: 124,602,553 (GRCm39)	P553T	probably damaging	Het
Cachd1	G	A	4: 100,823,438 (GRCm39)	V497I	possibly damaging	Het
Cacng4	A	G	11: 107,626,019 (GRCm39)	S191P	probably damaging	Het
Cd109	C	A	9: 78,605,442 (GRCm39)	T1015K	probably damaging	Het
Clstn2	A	G	9: 97,339,703 (GRCm39)	L756P	probably damaging	Het
Crybg3	A	T	16: 59,377,887 (GRCm39)	D1122E	possibly damaging	Het
Csf2	A	T	11: 54,140,420 (GRCm39)	L6*	probably null	Het
Csnk1g2	T	A	10: 80,473,745 (GRCm39)	Y71N	possibly damaging	Het
Dlg2	C	A	7: 90,564,731 (GRCm39)	H116N	probably benign	Het
Dnah14	C	T	1: 181,619,610 (GRCm39)	S3978L	probably damaging	Het
Dpp8	C	T	9: 64,960,453 (GRCm39)	T328I	probably null	Het
Dync2i1	T	A	12: 116,205,403 (GRCm39)		probably null	Het
Dysf	T	C	6: 84,163,450 (GRCm39)	V1625A	probably damaging	Het
Efcab3	G	A	11: 104,783,911 (GRCm39)	G2754E	probably benign	Het
Egf	C	A	3: 129,548,538 (GRCm39)	V26F	probably damaging	Het
Eif1ad19	T	C	12: 87,740,526 (GRCm39)	N11S	possibly damaging	Het
Fam20a	T	A	11: 109,565,992 (GRCm39)	Y414F	probably damaging	Het
Fsip2	T	C	2: 82,818,241 (GRCm39)	I4658T	probably benign	Het
Hycc1	C	T	5: 24,196,748 (GRCm39)	E47K	probably benign	Het
Igflr1	A	T	7: 30,266,653 (GRCm39)	Q167L	possibly damaging	Het
Krt79	T	G	15: 101,839,196 (GRCm39)	E424D	probably benign	Het
Map3k6	A	G	4: 132,979,168 (GRCm39)		probably null	Het
Mcpt4	A	G	14: 56,297,511 (GRCm39)	I215T	probably damaging	Het
Med13	T	C	11: 86,189,984 (GRCm39)	Y975C	probably damaging	Het
Meioc	T	A	11: 102,566,419 (GRCm39)	Y678*	probably null	Het
Myof	T	C	19: 37,924,818 (GRCm39)	T1190A	probably benign	Het
Nap1l4	A	C	7: 143,088,132 (GRCm39)		probably benign	Het
Ncapg	T	C	5: 45,851,195 (GRCm39)	V796A	probably damaging	Het
Or4c10b	C	T	2: 89,711,956 (GRCm39)	T262I	probably benign	Het
Or4c119	C	T	2: 88,986,782 (GRCm39)	V246M	possibly damaging	Het
Or5d39	T	A	2: 87,979,614 (GRCm39)	I250L	probably benign	Het
Or5d40	T	A	2: 88,015,260 (GRCm39)	V13E	possibly damaging	Het
Or5p68	T	C	7: 107,945,645 (GRCm39)	Y181C	probably benign	Het
Paxbp1	A	G	16: 90,824,188 (GRCm39)	S515P	probably benign	Het
Pip4p1	A	G	14: 51,165,436 (GRCm39)	V257A	probably benign	Het
Plce1	C	T	19: 38,717,414 (GRCm39)	S1401F	probably damaging	Het
Rptor	A	G	11: 119,777,964 (GRCm39)	K1043E	probably benign	Het
Rtn4rl2	T	G	2: 84,711,039 (GRCm39)	N75T	probably damaging	Het
Slc35f4	A	G	14: 49,536,291 (GRCm39)	I448T	possibly damaging	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,278,612 (GRCm39)		probably benign	Het
Tas2r115	A	G	6: 132,714,918 (GRCm39)	I11T	possibly damaging	Het
Tbc1d5	A	G	17: 51,181,680 (GRCm39)	V351A	possibly damaging	Het
Trim65	C	A	11: 116,021,564 (GRCm39)	A90S	probably benign	Het
Trip11	C	T	12: 101,850,765 (GRCm39)	V1100I	possibly damaging	Het
Tyrp1	A	G	4: 80,759,012 (GRCm39)	E295G	probably null	Het
Ube2g2	G	A	10: 77,480,307 (GRCm39)	V138I	probably benign	Het

Other mutations in Trim43b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Trim43b	APN	9	88,973,695 (GRCm39)	missense	probably benign	0.04
IGL01953:Trim43b	APN	9	88,967,496 (GRCm39)	missense	possibly damaging	0.74
IGL02160:Trim43b	APN	9	88,973,683 (GRCm39)	missense	probably benign	0.35
IGL02626:Trim43b	APN	9	88,967,541 (GRCm39)	missense	possibly damaging	0.89
IGL03199:Trim43b	APN	9	88,971,481 (GRCm39)	missense	probably damaging	0.98
R0477:Trim43b	UTSW	9	88,972,654 (GRCm39)	missense	probably damaging	1.00
R1345:Trim43b	UTSW	9	88,967,725 (GRCm39)	missense	possibly damaging	0.77
R1491:Trim43b	UTSW	9	88,969,665 (GRCm39)	missense	possibly damaging	0.52
R1536:Trim43b	UTSW	9	88,967,411 (GRCm39)	nonsense	probably null
R1862:Trim43b	UTSW	9	88,967,624 (GRCm39)	missense	probably damaging	1.00
R2211:Trim43b	UTSW	9	88,967,302 (GRCm39)	missense	possibly damaging	0.91
R4039:Trim43b	UTSW	9	88,973,400 (GRCm39)	missense	probably damaging	1.00
R4222:Trim43b	UTSW	9	88,972,692 (GRCm39)	missense	probably benign	0.00
R4223:Trim43b	UTSW	9	88,972,692 (GRCm39)	missense	probably benign	0.00
R4224:Trim43b	UTSW	9	88,972,692 (GRCm39)	missense	probably benign	0.00
R4726:Trim43b	UTSW	9	88,971,538 (GRCm39)	missense	possibly damaging	0.70
R4812:Trim43b	UTSW	9	88,973,533 (GRCm39)	missense	probably benign	0.05
R4887:Trim43b	UTSW	9	88,973,365 (GRCm39)	missense	probably damaging	0.99
R5865:Trim43b	UTSW	9	88,967,659 (GRCm39)	missense	probably benign	0.19
R5909:Trim43b	UTSW	9	88,967,451 (GRCm39)	missense	possibly damaging	0.94
R6226:Trim43b	UTSW	9	88,973,328 (GRCm39)	missense	possibly damaging	0.82
R6378:Trim43b	UTSW	9	88,967,452 (GRCm39)	missense	probably benign	0.08
R6531:Trim43b	UTSW	9	88,967,418 (GRCm39)	missense	probably damaging	1.00
R7114:Trim43b	UTSW	9	88,967,661 (GRCm39)	missense	probably benign	0.04
R7946:Trim43b	UTSW	9	88,973,538 (GRCm39)	missense	probably damaging	0.98
R7972:Trim43b	UTSW	9	88,973,361 (GRCm39)	missense	probably damaging	1.00
R8270:Trim43b	UTSW	9	88,967,458 (GRCm39)	missense	possibly damaging	0.77
R8887:Trim43b	UTSW	9	88,969,642 (GRCm39)	missense	probably benign	0.04
R9142:Trim43b	UTSW	9	88,973,452 (GRCm39)	missense	possibly damaging	0.77
R9223:Trim43b	UTSW	9	88,967,663 (GRCm39)	missense	probably benign	0.41
R9370:Trim43b	UTSW	9	88,971,559 (GRCm39)	missense	probably benign	0.39
R9375:Trim43b	UTSW	9	88,967,619 (GRCm39)	missense	probably damaging	1.00
R9381:Trim43b	UTSW	9	88,969,642 (GRCm39)	missense	probably benign	0.04
R9451:Trim43b	UTSW	9	88,973,608 (GRCm39)	missense	possibly damaging	0.95
R9660:Trim43b	UTSW	9	88,973,395 (GRCm39)	missense	probably benign	0.14
R9728:Trim43b	UTSW	9	88,973,395 (GRCm39)	missense	probably benign	0.14
R9769:Trim43b	UTSW	9	88,967,458 (GRCm39)	missense	possibly damaging	0.59
V5622:Trim43b	UTSW	9	88,974,598 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTGGTCCTCAGATAATGAAGCTC -3'
(R):5'- GACAGTAAATCAGTGTGTGCAGC -3'

Sequencing Primer
(F):5'- GAAGCTCTTTCAAGCACTCCATG -3'
(R):5'- CAGCACTCTGATGGGCTCTTG -3'

Posted On

2022-11-14