Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00911:Fbxo38'

29403

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 #

IGL00911

Quality Score

Status

Chromosome

Chromosomal Location

62637226-62681766 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62663871 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 207 (I207F)

Ref Sequence

ENSEMBL: ENSMUSP00000047541 (fasta)

Gene Model

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

AlphaFold

Q8BMI0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048688
AA Change: I207F

PolyPhen 2 Score 0.589 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000047541
Gene: ENSMUSG00000042211
AA Change: I207F

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afm	T	C	5: 90,673,450 (GRCm39)	V234A	probably benign	Het
Alas1	T	A	9: 106,113,671 (GRCm39)	I525F	probably benign	Het
Ambra1	T	A	2: 91,598,027 (GRCm39)		probably benign	Het
Apbb2	G	A	5: 66,608,855 (GRCm39)	T264M	probably damaging	Het
Arb2a	T	A	13: 78,100,094 (GRCm39)		probably benign	Het
Arhgap40	A	G	2: 158,376,636 (GRCm39)		probably benign	Het
Chd9	C	T	8: 91,778,320 (GRCm39)	P2793L	probably damaging	Het
Clstn1	T	G	4: 149,727,648 (GRCm39)		probably benign	Het
Cyp2f2	T	C	7: 26,821,354 (GRCm39)	V13A	probably damaging	Het
Dnah1	C	T	14: 31,026,391 (GRCm39)		probably null	Het
Eogt	A	T	6: 97,096,961 (GRCm39)	V349E	probably damaging	Het
Epb41	T	C	4: 131,717,095 (GRCm39)	D353G	possibly damaging	Het
Frem2	T	C	3: 53,479,883 (GRCm39)	S1937G	probably damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Kcnh3	G	T	15: 99,130,882 (GRCm39)	G500*	probably null	Het
Khdc1b	A	T	1: 21,454,578 (GRCm39)	K94*	probably null	Het
Lpcat2	T	C	8: 93,617,338 (GRCm39)	Y367H	probably damaging	Het
Lrrd1	A	C	5: 3,915,689 (GRCm39)	N762T	probably benign	Het
Mbl2	T	A	19: 30,215,794 (GRCm39)	D100E	possibly damaging	Het
Mthfr	T	G	4: 148,125,759 (GRCm39)	S31A	probably benign	Het
Nrp1	T	A	8: 129,202,688 (GRCm39)	S558T	probably benign	Het
Nrxn3	T	C	12: 90,171,366 (GRCm39)	L1254P	probably damaging	Het
Or2ag12	A	T	7: 106,277,040 (GRCm39)	Y218N	probably damaging	Het
Pabpc1l	C	A	2: 163,884,343 (GRCm39)	T360K	probably damaging	Het
Pcgf1	G	A	6: 83,057,606 (GRCm39)	G92S	probably damaging	Het
Penk	T	C	4: 4,134,347 (GRCm39)	Y100C	probably damaging	Het
Pik3r1	T	C	13: 101,894,169 (GRCm39)		probably benign	Het
Pkhd1	T	A	1: 20,187,971 (GRCm39)	T3446S	probably benign	Het
Plcg2	G	A	8: 118,313,254 (GRCm39)	D473N	probably benign	Het
Poll	G	T	19: 45,542,040 (GRCm39)	T422K	probably damaging	Het
Skint3	T	A	4: 112,113,106 (GRCm39)		probably benign	Het
Stab2	C	A	10: 86,805,617 (GRCm39)	C243F	probably damaging	Het
Supt6	T	C	11: 78,122,007 (GRCm39)	E215G	possibly damaging	Het
Tas1r2	C	A	4: 139,387,602 (GRCm39)	P354T	probably benign	Het
Tenm2	G	A	11: 35,899,560 (GRCm39)	Q2533*	probably null	Het
Tmem121	C	T	12: 113,151,851 (GRCm39)	A23V	probably damaging	Het

Other mutations in Fbxo38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL03040:Fbxo38	APN	18	62,660,323 (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

2013-04-17