Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02626:Trim43b'

301085

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trim43b

Ensembl Gene

ENSMUSG00000079162

Gene Name

tripartite motif-containing 43B

Synonyms

Gm8269

Accession Numbers

Essential gene?

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

Stock #

IGL02626

Quality Score

Status

Chromosome

Chromosomal Location

88966677-88974888 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88967541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 365 (Y365C)

Ref Sequence

ENSEMBL: ENSMUSP00000126594 (fasta)

Gene Model

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

AlphaFold

P86448

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167113
AA Change: Y365C

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126594
Gene: ENSMUSG00000079162
AA Change: Y365C

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

possibly damaging
Transcript: ENSMUST00000189557
AA Change: Y364C

PolyPhen 2 Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000139457
Gene: ENSMUSG00000079162
AA Change: Y364C

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,949,810 (GRCm39)	K1236E	probably damaging	Het
Actl7a	A	T	4: 56,744,353 (GRCm39)	E293D	possibly damaging	Het
Adamts2	T	C	11: 50,667,082 (GRCm39)	Y460H	probably damaging	Het
Aoc1	G	A	6: 48,883,044 (GRCm39)	V307I	probably benign	Het
Ar	C	T	X: 97,358,492 (GRCm39)	H756Y	probably damaging	Het
Atg3	C	T	16: 45,004,048 (GRCm39)	R224W	probably benign	Het
Atp5po	G	A	16: 91,483,201 (GRCm39)	P47S	probably damaging	Het
Bicd1	A	G	6: 149,311,054 (GRCm39)	E43G	probably damaging	Het
Ccdc88c	A	G	12: 100,934,059 (GRCm39)		probably benign	Het
Cd33	A	G	7: 43,179,736 (GRCm39)		probably benign	Het
Cd36	T	A	5: 18,002,126 (GRCm39)	R292*	probably null	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdh23	T	C	10: 60,227,580 (GRCm39)	D1167G	probably damaging	Het
Cdk5rap1	A	G	2: 154,207,880 (GRCm39)		probably null	Het
Chd6	A	G	2: 160,881,270 (GRCm39)		probably benign	Het
Chd7	A	T	4: 8,826,519 (GRCm39)	Y961F	probably damaging	Het
Cpe	T	C	8: 65,145,829 (GRCm39)	E52G	probably benign	Het
Cpne5	C	T	17: 29,379,311 (GRCm39)	G491S	probably damaging	Het
Csmd3	A	T	15: 47,567,503 (GRCm39)		probably benign	Het
Ctbp2	T	A	7: 132,600,940 (GRCm39)	T608S	probably benign	Het
Cybb	A	G	X: 9,335,439 (GRCm39)		probably null	Het
Daam2	T	C	17: 49,797,282 (GRCm39)	T168A	possibly damaging	Het
Dnah5	G	T	15: 28,307,422 (GRCm39)	V1717F	possibly damaging	Het
Dse	G	A	10: 34,029,158 (GRCm39)	T644I	probably damaging	Het
Dtd2	A	C	12: 52,051,708 (GRCm39)	Y45*	probably null	Het
Fgfr1op2	T	A	6: 146,491,509 (GRCm39)	M124K	probably benign	Het
Flii	T	C	11: 60,610,685 (GRCm39)	D537G	probably benign	Het
Fntb	T	A	12: 76,944,145 (GRCm39)	I217N	probably benign	Het
Foxi1	A	G	11: 34,155,860 (GRCm39)	S257P	probably benign	Het
Fyn	G	A	10: 39,402,798 (GRCm39)	R190H	probably damaging	Het
Gm28557	T	A	13: 67,223,008 (GRCm39)	T8S	probably benign	Het
Gramd1b	T	C	9: 40,209,306 (GRCm39)	K873E	probably damaging	Het
Grb10	T	C	11: 11,895,503 (GRCm39)	T329A	probably benign	Het
Haus5	A	G	7: 30,356,675 (GRCm39)	L477P	probably damaging	Het
Hectd4	A	T	5: 121,491,944 (GRCm39)	E3761V	possibly damaging	Het
Ift172	T	C	5: 31,421,840 (GRCm39)	I930V	probably benign	Het
Itprid1	T	A	6: 55,945,631 (GRCm39)	V784D	probably benign	Het
Izumo2	A	G	7: 44,358,560 (GRCm39)		probably benign	Het
Map4k4	A	G	1: 40,053,257 (GRCm39)		probably benign	Het
Morc1	A	G	16: 48,436,123 (GRCm39)	S753G	probably damaging	Het
Mpzl2	C	T	9: 44,955,590 (GRCm39)	T167I	probably damaging	Het
Mta2	T	A	19: 8,926,532 (GRCm39)	I491N	probably damaging	Het
Myo18b	A	T	5: 113,025,951 (GRCm39)	I33N	unknown	Het
Nub1	C	T	5: 24,908,462 (GRCm39)	H404Y	possibly damaging	Het
Or10ak13	T	C	4: 118,639,531 (GRCm39)	M84V	probably damaging	Het
Or4f58	A	T	2: 111,851,458 (GRCm39)	V247E	probably damaging	Het
Or5d47	T	C	2: 87,804,068 (GRCm39)	N314D	probably benign	Het
Or8d2b	T	C	9: 38,788,784 (GRCm39)	L104S	probably benign	Het
Ralyl	A	T	3: 13,842,094 (GRCm39)	M77L	probably benign	Het
Rap1gap	T	A	4: 137,454,364 (GRCm39)	V649E	probably benign	Het
Rnf40	C	A	7: 127,195,744 (GRCm39)	Q663K	probably damaging	Het
Slc22a18	T	C	7: 143,052,837 (GRCm39)	L354P	probably damaging	Het
Slc9a8	T	C	2: 167,309,597 (GRCm39)		probably benign	Het
Surf4	C	T	2: 26,815,619 (GRCm39)		probably null	Het
T	A	T	17: 8,654,069 (GRCm39)	N85Y	probably damaging	Het
Tanc1	A	G	2: 59,630,216 (GRCm39)	E732G	probably damaging	Het
Tas2r138	A	G	6: 40,589,649 (GRCm39)	V199A	possibly damaging	Het
Ubd	T	C	17: 37,506,573 (GRCm39)	L153P	probably damaging	Het
Xpnpep2	A	C	X: 47,215,786 (GRCm39)	M513L	probably benign	Het
Zar1l	C	T	5: 150,441,210 (GRCm39)	G139R	probably damaging	Het
Zc3hav1	T	G	6: 38,309,926 (GRCm39)	T299P	probably damaging	Het
Zfp236	C	A	18: 82,676,120 (GRCm39)		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
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
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

Posted On

2015-04-16