Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03040:Fbxo38'

408856

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fbxo38

Ensembl Gene

ENSMUSG00000042211

Gene Name

F-box protein 38

Synonyms

SP329, 6030410I24Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03040

Quality Score

Status

Chromosome

Chromosomal Location

62637226-62681766 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62660323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 296 (H296R)

Ref Sequence

ENSEMBL: ENSMUSP00000047541 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048688]

AlphaFold

Q8BMI0

Predicted Effect

probably damaging
Transcript: ENSMUST00000048688
AA Change: H296R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047541
Gene: ENSMUSG00000042211
AA Change: H296R

Domain	Start	End	E-Value	Type
Pfam:F-box	29	66	2.6e-5	PFAM
SCOP:d1fqva2	127	357	6e-4	SMART
low complexity region	493	525	N/A	INTRINSIC
low complexity region	598	610	N/A	INTRINSIC
low complexity region	705	728	N/A	INTRINSIC
low complexity region	736	753	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	C	A	6: 142,598,323 (GRCm39)	G672*	probably null	Het
Adamts19	T	A	18: 59,036,080 (GRCm39)	S422T	probably benign	Het
Anapc7	T	A	5: 122,571,450 (GRCm39)	L175*	probably null	Het
Atp13a2	T	C	4: 140,733,484 (GRCm39)	L986P	probably damaging	Het
Atp6v1d	C	A	12: 78,904,122 (GRCm39)		probably benign	Het
Bnip5	A	G	17: 29,134,176 (GRCm39)	M11T	probably benign	Het
Cldn5	A	G	16: 18,596,380 (GRCm39)	Y212C	probably damaging	Het
Dgki	C	A	6: 37,126,599 (GRCm39)		probably benign	Het
Evi5	A	G	5: 107,969,672 (GRCm39)	S80P	probably damaging	Het
Extl1	A	T	4: 134,087,940 (GRCm39)		probably benign	Het
Fam237b	C	A	5: 5,625,566 (GRCm39)	Y87*	probably null	Het
Fras1	A	G	5: 96,857,960 (GRCm39)	I2085V	probably benign	Het
Gpd2	A	T	2: 57,245,805 (GRCm39)	E445V	probably benign	Het
Grm8	C	T	6: 28,126,122 (GRCm39)	M1I	probably null	Het
Hnf4g	T	A	3: 3,699,271 (GRCm39)		probably benign	Het
Hspg2	G	A	4: 137,289,136 (GRCm39)		probably null	Het
Kmt2c	T	C	5: 25,515,350 (GRCm39)	Q2831R	probably benign	Het
Nat10	C	A	2: 103,587,610 (GRCm39)		probably benign	Het
Pbx1	C	A	1: 168,255,515 (GRCm39)		probably benign	Het
Prkg2	C	T	5: 99,120,966 (GRCm39)		probably null	Het
Scn10a	T	A	9: 119,452,051 (GRCm39)	I1291F	probably damaging	Het
Sh3tc2	G	A	18: 62,122,481 (GRCm39)	G414D	probably benign	Het
Syn2	C	T	6: 115,240,926 (GRCm39)	T432I	possibly damaging	Het
Tnpo1	T	C	13: 98,996,463 (GRCm39)	E446G	probably damaging	Het
Topbp1	C	T	9: 103,205,866 (GRCm39)	L835F	possibly damaging	Het
Ubald1	G	T	16: 4,693,626 (GRCm39)	S96R	possibly damaging	Het
Utp6	C	A	11: 79,826,939 (GRCm39)		probably benign	Het
Vmn1r19	C	A	6: 57,382,347 (GRCm39)	P300Q	unknown	Het
Vmn1r220	T	C	13: 23,367,952 (GRCm39)	D248G	possibly damaging	Het
Zglp1	T	A	9: 20,974,622 (GRCm39)	S189C	probably damaging	Het

Other mutations in Fbxo38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00911:Fbxo38	APN	18	62,663,871 (GRCm39)	missense	possibly damaging	0.59
IGL01384:Fbxo38	APN	18	62,655,487 (GRCm39)	missense	probably damaging	0.98
IGL01443:Fbxo38	APN	18	62,666,741 (GRCm39)	missense	probably damaging	1.00
IGL01515:Fbxo38	APN	18	62,651,642 (GRCm39)	missense	probably benign	0.00
IGL01621:Fbxo38	APN	18	62,655,595 (GRCm39)	splice site	probably benign
IGL01975:Fbxo38	APN	18	62,648,484 (GRCm39)	missense	probably damaging	1.00
IGL02148:Fbxo38	APN	18	62,669,298 (GRCm39)	missense	probably benign	0.02
IGL02390:Fbxo38	APN	18	62,666,660 (GRCm39)	missense	probably damaging	1.00
IGL03088:Fbxo38	APN	18	62,655,543 (GRCm39)	missense	possibly damaging	0.86
IGL03290:Fbxo38	APN	18	62,659,234 (GRCm39)	missense	probably benign	0.08
FR4976:Fbxo38	UTSW	18	62,648,418 (GRCm39)	small deletion	probably benign
R0526:Fbxo38	UTSW	18	62,639,051 (GRCm39)	missense	probably damaging	1.00
R0529:Fbxo38	UTSW	18	62,639,057 (GRCm39)	missense	probably damaging	1.00
R0789:Fbxo38	UTSW	18	62,648,570 (GRCm39)	missense	possibly damaging	0.84
R1232:Fbxo38	UTSW	18	62,643,882 (GRCm39)	missense	probably damaging	1.00
R1857:Fbxo38	UTSW	18	62,648,489 (GRCm39)	missense	probably damaging	1.00
R1859:Fbxo38	UTSW	18	62,648,489 (GRCm39)	missense	probably damaging	1.00
R1872:Fbxo38	UTSW	18	62,650,094 (GRCm39)	missense	probably benign	0.01
R2114:Fbxo38	UTSW	18	62,639,711 (GRCm39)	missense	possibly damaging	0.71
R2910:Fbxo38	UTSW	18	62,652,878 (GRCm39)	missense	probably benign	0.01
R2911:Fbxo38	UTSW	18	62,652,878 (GRCm39)	missense	probably benign	0.01
R3406:Fbxo38	UTSW	18	62,647,914 (GRCm39)	missense	probably damaging	0.99
R3731:Fbxo38	UTSW	18	62,648,399 (GRCm39)	small deletion	probably benign
R3792:Fbxo38	UTSW	18	62,666,533 (GRCm39)	splice site	probably null
R3848:Fbxo38	UTSW	18	62,648,144 (GRCm39)	missense	possibly damaging	0.87
R3948:Fbxo38	UTSW	18	62,662,615 (GRCm39)	splice site	probably benign
R4151:Fbxo38	UTSW	18	62,648,399 (GRCm39)	small deletion	probably benign
R4323:Fbxo38	UTSW	18	62,648,232 (GRCm39)	missense	probably benign
R4456:Fbxo38	UTSW	18	62,659,320 (GRCm39)	missense	probably damaging	1.00
R4786:Fbxo38	UTSW	18	62,662,745 (GRCm39)	missense	probably damaging	1.00
R4829:Fbxo38	UTSW	18	62,651,662 (GRCm39)	missense	probably benign
R4959:Fbxo38	UTSW	18	62,655,578 (GRCm39)	missense	probably benign	0.45
R5274:Fbxo38	UTSW	18	62,648,140 (GRCm39)	missense	probably damaging	0.98
R5288:Fbxo38	UTSW	18	62,674,042 (GRCm39)	missense	probably benign
R5384:Fbxo38	UTSW	18	62,674,042 (GRCm39)	missense	probably benign
R5385:Fbxo38	UTSW	18	62,674,042 (GRCm39)	missense	probably benign
R5448:Fbxo38	UTSW	18	62,655,528 (GRCm39)	missense	possibly damaging	0.59
R5540:Fbxo38	UTSW	18	62,647,864 (GRCm39)	critical splice donor site	probably null
R5588:Fbxo38	UTSW	18	62,659,248 (GRCm39)	missense	probably damaging	1.00
R5617:Fbxo38	UTSW	18	62,639,042 (GRCm39)	missense	probably damaging	1.00
R5636:Fbxo38	UTSW	18	62,644,089 (GRCm39)	missense	possibly damaging	0.80
R5769:Fbxo38	UTSW	18	62,648,036 (GRCm39)	missense	probably benign	0.10
R6254:Fbxo38	UTSW	18	62,638,571 (GRCm39)	splice site	probably null
R6315:Fbxo38	UTSW	18	62,669,218 (GRCm39)	nonsense	probably null
R6517:Fbxo38	UTSW	18	62,666,634 (GRCm39)	missense	probably damaging	1.00
R6673:Fbxo38	UTSW	18	62,666,986 (GRCm39)	missense	probably damaging	1.00
R6974:Fbxo38	UTSW	18	62,639,740 (GRCm39)	missense	possibly damaging	0.95
R7022:Fbxo38	UTSW	18	62,669,295 (GRCm39)	missense	probably damaging	1.00
R7175:Fbxo38	UTSW	18	62,648,544 (GRCm39)	missense	probably benign	0.11
R8013:Fbxo38	UTSW	18	62,663,882 (GRCm39)	missense	possibly damaging	0.63
R8815:Fbxo38	UTSW	18	62,666,587 (GRCm39)	missense	probably damaging	1.00
R8885:Fbxo38	UTSW	18	62,659,272 (GRCm39)	missense	probably damaging	0.99
R9240:Fbxo38	UTSW	18	62,651,632 (GRCm39)	nonsense	probably null
R9427:Fbxo38	UTSW	18	62,644,160 (GRCm39)	missense	probably benign	0.00
R9750:Fbxo38	UTSW	18	62,674,061 (GRCm39)	missense	probably benign	0.14
R9796:Fbxo38	UTSW	18	62,674,055 (GRCm39)	missense	possibly damaging	0.92
Z1177:Fbxo38	UTSW	18	62,648,535 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02