Mutagenetix > Incidental Mutation

Incidental Mutation 'R7946:Trim43b'

649366

Institutional Source

Beutler Lab

Gene Symbol

Trim43b

Ensembl Gene

ENSMUSG00000079162

Gene Name

tripartite motif-containing 43B

Synonyms

Gm8269

MMRRC Submission

045991-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R7946 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88966677-88974888 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88973538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 65 (I65T)

Ref Sequence

ENSEMBL: ENSMUSP00000126594 (fasta)

Gene Model

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

AlphaFold

P86448

Predicted Effect

probably damaging
Transcript: ENSMUST00000167113
AA Change: I65T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126594
Gene: ENSMUSG00000079162
AA Change: I65T

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: I65T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000139457
Gene: ENSMUSG00000079162
AA Change: I65T

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,126,398 (GRCm39)	T1186A	probably benign	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
Afap1	A	G	5: 36,092,995 (GRCm39)	N33S	probably benign	Het
Afap1	G	A	5: 36,141,396 (GRCm39)		probably null	Het
Ampd3	A	G	7: 110,377,147 (GRCm39)	D46G	probably damaging	Het
Anks4b	A	G	7: 119,781,707 (GRCm39)	K246R	probably benign	Het
Aqp9	C	T	9: 71,030,290 (GRCm39)	V192M	probably damaging	Het
Aspscr1	T	G	11: 120,599,443 (GRCm39)	S132A		Het
Atp2b4	C	A	1: 133,658,320 (GRCm39)	R530L	probably damaging	Het
Bahcc1	T	C	11: 120,163,325 (GRCm39)	V541A	probably benign	Het
Caprin1	A	T	2: 103,603,093 (GRCm39)	V490E	probably damaging	Het
Ccdc7a	T	A	8: 129,643,627 (GRCm39)	K734M	probably damaging	Het
Ccdc9b	G	T	2: 118,590,146 (GRCm39)	P233T	probably benign	Het
Cdc16	A	G	8: 13,812,882 (GRCm39)	K138R	probably benign	Het
Cela2a	A	G	4: 141,549,617 (GRCm39)	S53P	possibly damaging	Het
Clca3a2	A	G	3: 144,513,075 (GRCm39)		probably null	Het
Cntrob	T	C	11: 69,206,047 (GRCm39)	E373G	possibly damaging	Het
Csmd2	T	C	4: 128,414,058 (GRCm39)	Y2633H		Het
Ctbp1	A	T	5: 33,407,688 (GRCm39)	M296K	probably benign	Het
Dido1	G	T	2: 180,303,501 (GRCm39)	Q1468K	possibly damaging	Het
Dnah7b	T	C	1: 46,272,739 (GRCm39)	F2289S	probably damaging	Het
Fndc7	T	A	3: 108,779,452 (GRCm39)	D364V	possibly damaging	Het
Ggt7	G	T	2: 155,347,892 (GRCm39)	H180Q	probably damaging	Het
Gm14399	A	T	2: 174,973,273 (GRCm39)	C161S	probably damaging	Het
Gm17324	T	C	9: 78,355,794 (GRCm39)	T62A	unknown	Het
Gpr107	A	G	2: 31,078,716 (GRCm39)	I384V	probably damaging	Het
Igsf10	C	A	3: 59,227,125 (GRCm39)	V2183L	possibly damaging	Het
Il23r	T	A	6: 67,411,648 (GRCm39)	H363L	possibly damaging	Het
Inka2	T	A	3: 105,623,761 (GRCm39)	L45H	probably damaging	Het
Iqsec1	A	T	6: 90,667,252 (GRCm39)	I291N	probably damaging	Het
Kcnc3	A	T	7: 44,245,569 (GRCm39)	T620S	probably benign	Het
Kif2b	T	C	11: 91,466,571 (GRCm39)	N571D	probably benign	Het
Klrb1c	T	A	6: 128,766,072 (GRCm39)		probably benign	Het
Mgst2	A	G	3: 51,584,991 (GRCm39)	N55S	probably damaging	Het
Neb	T	C	2: 52,102,746 (GRCm39)	D4509G	probably damaging	Het
Obox1	G	T	7: 15,289,456 (GRCm39)	V82F	probably benign	Het
Or4k51	A	T	2: 111,585,163 (GRCm39)	M190L	probably benign	Het
Or5p59	A	G	7: 107,703,053 (GRCm39)	D179G	probably benign	Het
Or7e174	T	C	9: 20,012,780 (GRCm39)	S242P	probably damaging	Het
Pakap	A	T	4: 57,710,045 (GRCm39)	N330I	probably damaging	Het
Phf21a	A	T	2: 92,189,512 (GRCm39)	E590D	probably damaging	Het
Rai14	T	C	15: 10,574,287 (GRCm39)		probably null	Het
Rfx7	T	C	9: 72,524,096 (GRCm39)	Y429H	probably damaging	Het
Spata31d1d	G	T	13: 59,878,606 (GRCm39)	A77E	probably benign	Het
Stra8	A	G	6: 34,907,816 (GRCm39)		probably null	Het
Syne1	A	G	10: 5,200,919 (GRCm39)	S3550P	possibly damaging	Het
Tars2	A	T	3: 95,657,693 (GRCm39)	H249Q	probably damaging	Het
Tomm5	T	C	4: 45,107,969 (GRCm39)	E22G	probably benign	Het
Tor1a	A	G	2: 30,853,704 (GRCm39)		probably null	Het
Ubr3	T	C	2: 69,781,739 (GRCm39)	M640T	possibly damaging	Het
Vegfa	A	T	17: 46,336,377 (GRCm39)	Y248N	probably damaging	Het
Vmn1r172	T	G	7: 23,358,857 (GRCm39)		probably null	Het
Vmn1r29	G	T	6: 58,284,834 (GRCm39)	V185F	probably benign	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Wdfy4	T	C	14: 32,792,705 (GRCm39)	K2114E		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
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
R9751:Trim43b	UTSW	9	88,971,570 (GRCm39)	missense	probably benign	0.04
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'- TCCTGAACAGCTACATCAATGG -3'
(R):5'- TGGAATCAGACAATTTACAAGACCC -3'

Sequencing Primer
(F):5'- AACAGTGTGTGTGACCGC -3'
(R):5'- GACAATTTACAAGACCCTCAGGAG -3'

Posted On

2020-09-15