Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02148:Fbxo38'

281855

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fbxo38

Ensembl Gene

ENSMUSG00000042211

Gene Name

F-box protein 38

Synonyms

6030410I24Rik, SP329

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02148

Quality Score

Status

Chromosome

Chromosomal Location

62504069-62548743 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62536227 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 51 (M51V)

Ref Sequence

ENSEMBL: ENSMUSP00000047541 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000048688
AA Change: M51V

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000047541
Gene: ENSMUSG00000042211
AA Change: M51V

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024P04Rik	A	T	13: 98,984,183	F112I	probably damaging	Het
Akna	C	T	4: 63,382,479		probably benign	Het
AU040320	T	C	4: 126,839,676	V663A	possibly damaging	Het
Cdh13	A	G	8: 119,198,958	D355G	probably damaging	Het
Cdyl2	A	G	8: 116,589,244		probably benign	Het
Csnk1g3	C	T	18: 53,953,288	R422C	probably benign	Het
D430042O09Rik	A	T	7: 125,873,476		probably null	Het
Dclk1	T	A	3: 55,500,099	V233D	probably damaging	Het
Ddx59	T	C	1: 136,433,827	S477P	probably damaging	Het
Epb41l1	A	T	2: 156,511,828		probably benign	Het
Epha2	T	C	4: 141,318,524	L453P	probably damaging	Het
Esco2	T	C	14: 65,826,595	H380R	probably benign	Het
Fgb	T	C	3: 83,043,287	M387V	probably damaging	Het
Fryl	A	G	5: 73,075,959	L1522S	probably benign	Het
Gdf9	T	A	11: 53,436,742	M175K	probably benign	Het
Gm13023	T	A	4: 143,792,734	Y22N	probably benign	Het
Gm20547	C	T	17: 34,860,548	D243N	probably benign	Het
Gramd1b	T	A	9: 40,315,764	D299V	probably damaging	Het
Gsg1l	G	T	7: 125,923,499	Q186K	possibly damaging	Het
Kcnh5	A	G	12: 74,897,652	L941P	possibly damaging	Het
Lrrc8d	A	G	5: 105,812,387	D221G	possibly damaging	Het
Med19	T	C	2: 84,685,259	F96L	probably damaging	Het
Mei1	C	A	15: 82,092,711	S589*	probably null	Het
Myh15	G	T	16: 49,116,315	D708Y	probably damaging	Het
Naca	C	T	10: 128,043,884		probably benign	Het
Olfr1173	A	T	2: 88,274,222	Y276N	possibly damaging	Het
Otog	G	A	7: 46,300,587	C306Y	probably damaging	Het
Phldb1	T	C	9: 44,696,072	K1279E	probably damaging	Het
Pkd1	C	T	17: 24,579,836	T369I	probably damaging	Het
Plekha8	A	G	6: 54,615,286	S32G	probably damaging	Het
Sema4g	A	G	19: 44,996,469	T113A	probably damaging	Het
Setdb2	C	T	14: 59,402,315	R709Q	probably damaging	Het
Sh3rf3	T	C	10: 59,086,740	M546T	probably benign	Het
Slc27a5	A	G	7: 12,994,951	V328A	probably damaging	Het
Spef1	T	C	2: 131,172,768	N78S	probably benign	Het
Tln1	T	C	4: 43,555,388	T179A	probably damaging	Het
Tmc5	T	C	7: 118,645,324	I475T	probably damaging	Het
Top2b	A	G	14: 16,400,488	Y621C	probably damaging	Het
Ttf1	T	C	2: 29,079,426	F727L	probably benign	Het
Tufm	T	C	7: 126,489,160	L75P	probably damaging	Het
Ugt1a2	T	A	1: 88,201,074	D146E	probably damaging	Het
Usp15	G	A	10: 123,127,837	T533I	probably damaging	Het
Vmn1r113	A	G	7: 20,787,822	T180A	probably benign	Het
Vmn1r205	G	T	13: 22,592,225	P236T	probably damaging	Het
Vmn2r112	T	G	17: 22,619,032	C825G	probably damaging	Het
Zfp712	T	A	13: 67,042,158	I102F	probably damaging	Het

Other mutations in Fbxo38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00911:Fbxo38	APN	18	62530800	missense	possibly damaging	0.59
IGL01384:Fbxo38	APN	18	62522416	missense	probably damaging	0.98
IGL01443:Fbxo38	APN	18	62533670	missense	probably damaging	1.00
IGL01515:Fbxo38	APN	18	62518571	missense	probably benign	0.00
IGL01621:Fbxo38	APN	18	62522524	splice site	probably benign
IGL01975:Fbxo38	APN	18	62515413	missense	probably damaging	1.00
IGL02390:Fbxo38	APN	18	62533589	missense	probably damaging	1.00
IGL03040:Fbxo38	APN	18	62527252	missense	probably damaging	1.00
IGL03088:Fbxo38	APN	18	62522472	missense	possibly damaging	0.86
IGL03290:Fbxo38	APN	18	62526163	missense	probably benign	0.08
FR4976:Fbxo38	UTSW	18	62515347	small deletion	probably benign
R0526:Fbxo38	UTSW	18	62505980	missense	probably damaging	1.00
R0529:Fbxo38	UTSW	18	62505986	missense	probably damaging	1.00
R0789:Fbxo38	UTSW	18	62515499	missense	possibly damaging	0.84
R1232:Fbxo38	UTSW	18	62510811	missense	probably damaging	1.00
R1857:Fbxo38	UTSW	18	62515418	missense	probably damaging	1.00
R1859:Fbxo38	UTSW	18	62515418	missense	probably damaging	1.00
R1872:Fbxo38	UTSW	18	62517023	missense	probably benign	0.01
R2114:Fbxo38	UTSW	18	62506640	missense	possibly damaging	0.71
R2910:Fbxo38	UTSW	18	62519807	missense	probably benign	0.01
R2911:Fbxo38	UTSW	18	62519807	missense	probably benign	0.01
R3406:Fbxo38	UTSW	18	62514843	missense	probably damaging	0.99
R3731:Fbxo38	UTSW	18	62515328	small deletion	probably benign
R3792:Fbxo38	UTSW	18	62533462	splice site	probably null
R3848:Fbxo38	UTSW	18	62515073	missense	possibly damaging	0.87
R3948:Fbxo38	UTSW	18	62529544	splice site	probably benign
R4151:Fbxo38	UTSW	18	62515328	small deletion	probably benign
R4323:Fbxo38	UTSW	18	62515161	missense	probably benign
R4456:Fbxo38	UTSW	18	62526249	missense	probably damaging	1.00
R4786:Fbxo38	UTSW	18	62529674	missense	probably damaging	1.00
R4829:Fbxo38	UTSW	18	62518591	missense	probably benign
R4959:Fbxo38	UTSW	18	62522507	missense	probably benign	0.45
R5274:Fbxo38	UTSW	18	62515069	missense	probably damaging	0.98
R5288:Fbxo38	UTSW	18	62540971	missense	probably benign
R5384:Fbxo38	UTSW	18	62540971	missense	probably benign
R5385:Fbxo38	UTSW	18	62540971	missense	probably benign
R5448:Fbxo38	UTSW	18	62522457	missense	possibly damaging	0.59
R5540:Fbxo38	UTSW	18	62514793	critical splice donor site	probably null
R5588:Fbxo38	UTSW	18	62526177	missense	probably damaging	1.00
R5617:Fbxo38	UTSW	18	62505971	missense	probably damaging	1.00
R5636:Fbxo38	UTSW	18	62511018	missense	possibly damaging	0.80
R5769:Fbxo38	UTSW	18	62514965	missense	probably benign	0.10
R6254:Fbxo38	UTSW	18	62505500	splice site	probably null
R6315:Fbxo38	UTSW	18	62536147	nonsense	probably null
R6517:Fbxo38	UTSW	18	62533563	missense	probably damaging	1.00
R6673:Fbxo38	UTSW	18	62533915	missense	probably damaging	1.00
R6974:Fbxo38	UTSW	18	62506669	missense	possibly damaging	0.95
R7022:Fbxo38	UTSW	18	62536224	missense	probably damaging	1.00
R7175:Fbxo38	UTSW	18	62515473	missense	probably benign	0.11
R8013:Fbxo38	UTSW	18	62530811	missense	possibly damaging	0.63
Z1177:Fbxo38	UTSW	18	62515464	missense	probably damaging	1.00

Posted On

2015-04-16